Regulation of activated PAK-2p34 by proteasome mediated degradation

Pathway network for the Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

Sources:

Reactome
GeneGo (Thomson Reuters)
WikiPathways
QIAGEN
PubChem

Pathways in the Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

#	Name	Source	Genes
1	Regulation of activated PAK-2p34 by proteasome mediated degradation	Reactome	ADRM1 PAK2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 UBA52 UBB UBC (see all 37) (see less)
2	Beta-catenin independent WNT signaling	Reactome	ADRM1 AGO1 AGO2 AGO3 AGO4 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 ARRB2 CALM1 CALM2 CALM3 CAMK2A CLTA CLTB CLTC CTNNB1 DAAM1 DVL1 DVL2 DVL3 FZD1 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 GNAO1 GNAT2 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 ITPR1 ITPR2 ITPR3 KRAS LEF1 MAP3K7 MOV10 NFATC1 NLK PARD6A PDE6A PDE6B PDE6G PFN1 PLCB1 PLCB2 PLCB3 PPP3CA PPP3CB PPP3R1 PRICKLE1 PRKCA PRKCB PRKCG PRKG1 PRKG2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAC1 RAC2 RAC3 RHOA ROR1 ROR2 RPS27A RYK SCRIB SEM1 SMURF1 SMURF2 TCF7 TCF7L1 TCF7L2 TNRC6A TNRC6B TNRC6C UBA52 UBB UBC VANGL2 WNT1 WNT11 WNT4 WNT5A WNT5B (see all 133) (see less)
3	Circadian clock	Reactome	ADRM1 ATF2 AVP BHLHE40 BHLHE41 BMAL1 BMAL2 BTRC CARM1 CDK5 CHD9 CIPC CLOCK CPT1A CREB1 CREBBP CREM CRTC1 CRTC2 CRTC3 CRY1 CRY2 CSNK1D CSNK1E CSNK2A1 CSNK2A2 CSNK2B CUL1 DBP EP300 F7 FBXL3 FBXW11 HDAC3 HELZ2 KLF15 KMT2A LOC102724428 MED1 MEF2C MEF2D NAMPT NCOA1 NCOA2 NCOA6 NCOR1 NOCT NPAS2 NR1D1 NRIP1 PER1 PER2 PER3 PPARA PPARGC1A PPP1CA PPP1CB PPP1CC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAI1 RBM4 RBX1 RORA RORB RORC RPS27A RXRA SEM1 SERPINE1 SIK1 SIRT1 SKP1 SMARCD3 SREBF1 TBL1X TBL1XR1 TFEB TGS1 UBA52 UBB UBC UBE2D1 (see all 111) (see less)
4	Transcriptional regulation by RUNX2	Reactome	ABL1 ADRM1 AKT1 AKT2 AKT3 AR BGLAP BMP2 CBFB CCNB1 CCND1 CDK1 CDK4 CDKN1A COL1A1 CUL1 DLX5 DLX6 ESR1 ESRRA GLI2 GLI3 GSK3B HAND2 HDAC3 HDAC4 HDAC6 HES1 HEY1 HEY2 HIVEP3 IHH ITGA5 ITGBL1 LGALS3 MAF MAPK1 MAPK3 MMP13 MSX2 NKX3-2 NR3C1 PPARGC1A PPARGC1B PPM1D PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RB1 RBM14 RBM14-RBM4 RBX1 RPS27A RUNX1 RUNX2 SATB2 SEM1 SKP1 SKP2 SMAD1 SMAD4 SMAD6 SMURF1 SOX9 SP7 SRC STAT1 STUB1 TWIST1 TWIST2 UBA52 UBB UBC UCMA WWP1 WWTR1 YAP1 YES1 ZNF521 (see all 106) (see less)
5	Signaling by the B Cell Receptor (BCR)	Reactome	ADRM1 AHCYL1 BLK BLNK BTK BTRC CALM1 CALM2 CALM3 CD19 CD22 CD79A CD79B CHUK CUL1 DAPP1 FBXW11 FKBP1A FYN GRB2 HRAS IKBKB IKBKG ITPR1 ITPR2 ITPR3 KRAS LYN MAP3K7 NCK1 NFATC1 NFATC2 NFATC3 NFKB1 NFKBIA NFKBIB NFKBIE NRAS ORAI1 ORAI2 PIK3AP1 PIK3CD PIK3R1 PLCG2 PPIA PPP3CA PPP3CB PPP3R1 PRKCB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTPN6 RASGRP1 RASGRP3 REL RELA RPS27A SEM1 SH3KBP1 SKP1 SOS1 STIM1 SYK TRPC1 UBA52 UBB UBC VAV1 (see all 96) (see less)
6	ABC-family proteins mediated transport	Reactome	ABCA10 ABCA12 ABCA2 ABCA3 ABCA4 ABCA5 ABCA6 ABCA7 ABCA8 ABCA9 ABCB1 ABCB10 ABCB4 ABCB5 ABCB6 ABCB7 ABCB8 ABCB9 ABCC1 ABCC10 ABCC11 ABCC2 ABCC3 ABCC4 ABCC5 ABCC6 ABCC9 ABCD1 ABCD2 ABCD3 ABCF1 ABCG1 ABCG4 ABCG5 ABCG8 ADRM1 APOA1 CFTR DERL1 DERL2 DERL3 EIF2S1 EIF2S2 EIF2S3 ERLEC1 ERLIN1 ERLIN2 KCNJ11 OS9 PEX19 PEX3 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RNF185 RNF5 RPS27A SEL1L SEM1 UBA52 UBB UBC VCP (see all 90) (see less)
7	UCH proteinases	Reactome	ACTB ACTL6A ACTR5 ACTR8 ADRM1 ASXL1 ASXL2 BAP1 BARD1 FOXK1 FOXK2 H2AC1 H2AC11 H2AC12 H2AC13 H2AC14 H2AC15 H2AC16 H2AC17 H2AC18 H2AC19 H2AC20 H2AC21 H2AC25 H2AC4 H2AC6 H2AC7 H2AC8 HCFC1 INO80 INO80B INO80C INO80D INO80E KDM1B MBD5 MBD6 MCRS1 NEDD8 NFRKB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A RUVBL1 SEM1 SENP8 SMAD7 TFPT TGFB1 TGFBR1 TGFBR2 UBA52 UBB UBC UCHL1 UCHL3 UCHL5 USP15 YY1 (see all 87) (see less)
8	Transcriptional regulation by RUNX3	Reactome	ADRM1 BCL2L11 BRD2 CBFB CCN2 CCND1 CDKN1A CDKN2A CREBBP CTNNB1 EP300 FOXO3 HDAC4 HES1 ITGA4 ITGAL JAG1 KAT2A KAT2B KRAS LEF1 MAML1 MAML2 MAML3 MAMLD1 MDM2 MYC NOTCH1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBPJ RORC RPS27A RUNX1 RUNX3 SEM1 SMAD3 SMAD4 SMURF1 SMURF2 SNW1 SPP1 SRC TCF7 TCF7L1 TCF7L2 TEAD1 TEAD2 TEAD3 TEAD4 TGFB1 TP53 UBA52 UBB UBC WWTR1 YAP1 ZFHX3 (see all 86) (see less)
9	TNFR2 non-canonical NF-kB pathway	Reactome	ADRM1 BIRC2 BIRC3 BTRC CD27 CD40 CD40LG CD70 CHUK CUL1 EDA EDA2R EDAR EDARADD FASLG FBXW11 LTA LTB LTBR MAP3K14 NFKB2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RELB RPS27A SEM1 SKP1 TNFRSF11A TNFRSF11B TNFRSF12A TNFRSF13B TNFRSF13C TNFRSF14 TNFRSF17 TNFRSF18 TNFRSF1B TNFRSF25 TNFRSF4 TNFRSF6B TNFRSF8 TNFRSF9 TNFSF11 TNFSF12 TNFSF13 TNFSF13B TNFSF14 TNFSF15 TNFSF18 TNFSF4 TNFSF8 TNFSF9 TRAF2 TRAF3 UBA3 UBA52 UBB UBC UBE2M (see all 86) (see less)
10	PCP/CE pathway	Reactome	ADRM1 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 ARRB2 CLTA CLTB CLTC DAAM1 DVL1 DVL2 DVL3 FZD1 FZD2 FZD3 FZD4 FZD5 FZD6 FZD7 FZD8 PARD6A PFN1 PRICKLE1 PRKCA PRKCB PRKCG PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAC1 RAC2 RAC3 RHOA ROR1 ROR2 RPS27A RYK SCRIB SEM1 SMURF1 SMURF2 UBA52 UBB UBC VANGL2 WNT1 WNT11 WNT4 WNT5A WNT5B (see all 79) (see less)
11	MAPK6/MAPK4 signaling	Reactome	ADRM1 AGO1 AGO2 AGO3 AGO4 CCND3 CDC14A CDC14B CDC42 CDC42EP2 CDC42EP3 CDC42EP5 CDK1 DNAJB1 ETV4 FOXO1 FOXO3 HSPB1 IGF2BP1 JUN KALRN MAPK4 MAPK6 MAPKAPK5 MOV10 MYC NCOA3 PAK1 PAK2 PAK3 PRKACA PRKACB PRKACG PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RAC1 RAG1 RAG2 RPS27A SEM1 SEPTIN7 TNRC6A TNRC6B TNRC6C UBA52 UBB UBC XPO1 (see all 76) (see less)
12	Cyclin A:Cdk2-associated events at S phase entry	Reactome	ADRM1 AKT1 AKT2 AKT3 CABLES1 CCNA1 CCNA2 CCND1 CCNE1 CCNE2 CCNH CDC25A CDC25B CDK2 CDK4 CDK7 CDKN1A CDKN1B CKS1B CUL1 E2F1 E2F4 E2F5 FZR1 LIN37 LIN52 LIN54 LIN9 MAX MNAT1 MYC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTK6 RB1 RBBP4 RBL2 RPS27A SEM1 SKP1 SKP2 TFDP1 TFDP2 UBA52 UBB UBC WEE1 (see all 75) (see less)
13	Regulation of mRNA stability by proteins that bind AU-rich elements	Reactome	ADRM1 AKT1 ANP32A DCP1A DCP2 DIS3 EIF4G1 ELAVL1 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 HNRNPD HSPA1A HSPA1B HSPA8 HSPB1 KHSRP MAPK11 MAPK14 MAPKAPK2 NUP214 PABPC1 PARN PRKCA PRKCD PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 SET TNFSF13 TNPO1 UBA52 UBB UBC XPO1 XRN1 YWHAB YWHAZ ZFP36 ZFP36L1 (see all 75) (see less)
14	Immune response Antigen presentation by MHC class I	GeneGo (Thomson Reuters)	B2M CALR CANX CD247 CD3D CD3E CD3G CD8A CD8B HLA-A HLA-B HLA-C HSP90AA1 HSP90AB1 HSP90B1 PDIA3 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMA8 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 PSME1 PSME2 PSME3 SEC61A1 SEC61A2 SEC61B SEC61G TAP1 TAP2 TAPBP TRA TRAC TRAJ18 TRAP1 TRAV24 TRB TRBV11-1 TRBV11-2 TRBV11-3 TRBV17 (see all 74) (see less)
15	Parkin-ubiquitin proteasomal system pathway	WikiPathways	CASK CASP1 CASP8 CCNE1 CUL1 FBXW7 GPR37 HSPA14 HSPA1A HSPA1B HSPA1L HSPA2 HSPA4 HSPA5 HSPA6 HSPA7 HSPA8 HSPA9 PRKN PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 RNF19A SEPTIN5 SIAH1 SIAH2 SNCA SNCAIP STUB1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB7P TUBB8 UBA1 UBE2G1 UBE2G2 UBE2J1 UBE2J2 UBE2L3 UBE2L6 (see all 73) (see less)
16	Proteolysis Role of Parkin in the Ubiquitin-Proteasomal Pathway	GeneGo (Thomson Reuters)	CASK CASP1 CASP8 CCNE1 CUL1 FBXW7 GPR37 HSPA14 HSPA1A HSPA1B HSPA1L HSPA2 HSPA4 HSPA5 HSPA6 HSPA7 HSPA8 HSPA9 PRKN PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 RNF19A SEPTIN5 SIAH1 SIAH2 SNCA SNCAIP STUB1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB7P TUBB8 UBA1 UBE2G1 UBE2G2 UBE2J1 UBE2J2 UBE2L3 UBE2L6 (see all 73) (see less)
17	Cyclin E associated events during G1/S transition	Reactome	ADRM1 AKT1 AKT2 AKT3 CABLES1 CCNA1 CCNA2 CCND1 CCNE1 CCNE2 CCNH CDC25A CDK2 CDK4 CDK7 CDKN1A CDKN1B CKS1B CUL1 E2F1 E2F4 E2F5 LIN37 LIN52 LIN54 LIN9 MAX MNAT1 MYC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTK6 RB1 RBBP4 RBL2 RPS27A SEM1 SKP1 SKP2 TFDP1 TFDP2 UBA52 UBB UBC WEE1 (see all 73) (see less)
18	Signaling by NOTCH4	Reactome	ACTA2 ADAM10 ADRM1 AKT1 APH1A APH1B CREBBP CUL1 DLL4 EP300 FBXW7 FLT4 HES1 HES5 HEY1 HEY2 JAG1 KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 NCSTN NOTCH1 NOTCH2 NOTCH4 PSEN1 PSEN2 PSENEN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBPJ RBX1 RPS27A SEM1 SKP1 SMAD3 SNW1 TACC3 UBA52 UBB UBC YWHAZ (see all 72) (see less)
19	Degradation of beta-catenin by the destruction complex	Reactome	ADRM1 AMER1 APC AXIN1 BTRC CSNK1A1 CTBP1 CTBP2 CTNNB1 CUL1 FRAT1 FRAT2 GSK3B HDAC1 LEF1 PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 TCF7 TCF7L1 TCF7L2 TLE1 TLE2 TLE3 TLE4 TLE5 UBA52 UBB UBC ZRANB1 (see all 70) (see less)
20	Downstream signaling events of B Cell Receptor (BCR)	Reactome	ADRM1 BTRC CALM1 CALM2 CALM3 CHUK CUL1 FBXW11 FKBP1A HRAS IKBKB IKBKG KRAS MAP3K7 NFATC1 NFATC2 NFATC3 NFKB1 NFKBIA NFKBIB NFKBIE NRAS PPIA PPP3CA PPP3CB PPP3R1 PRKCB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RASGRP1 RASGRP3 REL RELA RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 67) (see less)
21	The role of GTSE1 in G2/M progression after G2 checkpoint	Reactome	ADRM1 CCNB1 CCNB2 CDK1 CDKN1A FKBPL GTSE1 HSP90AA1 HSP90AB1 MAPRE1 PLK1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 TP53 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B UBA52 UBB UBC (see all 66) (see less)
22	Parkinson's Disease Pathway	QIAGEN	ATXN1 ATXN10 ATXN2 ATXN3 ATXN7 CASP1 CASP8 CCNE1 CCNE2 EPRS1 GPR37 HSPA4 PARK7 PINK1 PRKN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 SEPTIN5 SLC6A3 SNCA SNCAIP STUB1 SYT11 TUBA3C TUBA4A TUBA8 TUBB1 TUBB2A TUBB7P TUBE1 TUBG1 TUBG2 TUBGCP2 TUBGCP3 TUBGCP5 TUBGCP6 UBB UBC UBD UBE2L3 UCHL1 (see all 65) (see less)
23	ABC transporter disorders	Reactome	ABCA1 ABCA12 ABCA3 ABCB11 ABCB4 ABCB6 ABCC2 ABCC6 ABCC8 ABCC9 ABCD1 ABCD4 ABCG5 ABCG8 ADRM1 APOA1 CFTR DERL1 DERL2 DERL3 ERLEC1 ERLIN1 ERLIN2 KCNJ11 LMBRD1 OS9 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RNF185 RNF5 RPS27A SEL1L SEM1 UBA52 UBB UBC VCP (see all 65) (see less)
24	Proteasome degradation	WikiPathways	H2AC4 H2AX H2AZ1 HLA-A HLA-B HLA-C HLA-E HLA-F HLA-G HLA-H HLA-J IFNG NEDD4 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 PSME1 PSME2 PSME3 RPN1 RPN2 UBA1 UBA7 UBB UBC UBE2B UBE2D1 UBE2D2 UBE2D3 UCHL1 UCHL3 (see all 64) (see less)
25	FCERI mediated NF-kB activation	Reactome	ADRM1 BTRC CDC34 CHUK CUL1 FBXW11 FCER1A FCER1G IKBKB IKBKG LYN MAP3K7 MS4A2 NFKB1 NFKBIA PDPK1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RASGRP1 RASGRP2 RASGRP4 RELA RPS27A SEM1 SKP1 TAB1 TAB2 TAB3 TRAF6 UBA52 UBB UBC UBE2D1 UBE2D2 UBE2N UBE2V1 (see all 64) (see less)
26	Ca2+ pathway	Reactome	AGO1 AGO2 AGO3 AGO4 CALM1 CALM2 CALM3 CAMK2A CTNNB1 FZD2 FZD3 FZD4 FZD5 FZD6 GNAO1 GNAT2 GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 ITPR1 ITPR2 ITPR3 KRAS LEF1 MAP3K7 MOV10 NFATC1 NLK PDE6A PDE6B PDE6G PLCB1 PLCB2 PLCB3 PPP3CA PPP3CB PPP3R1 PRKCA PRKG1 PRKG2 TCF7 TCF7L1 TCF7L2 TNRC6A TNRC6B TNRC6C WNT11 WNT5A (see all 62) (see less)
27	Cellular response to hypoxia	Reactome	ADRM1 AJUBA ARNT CA9 CITED2 CREBBP CUL2 EGLN1 EGLN2 EGLN3 ELOB ELOC EP300 EPAS1 EPO HIF1A HIF1AN HIF3A HIGD1A LIMD1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 UBA52 UBB UBC UBE2D1 UBE2D2 UBE2D3 VEGFA VHL WTIP (see all 62) (see less)
28	G1/S DNA Damage Checkpoints	Reactome	ADRM1 ATM BTRC CCNA1 CCNA2 CCNE1 CCNE2 CDC25A CDK2 CDKN1A CDKN1B CDKN2A CHEK1 CHEK2 COP1 CUL1 FBXW11 MDM2 MDM4 PCBP4 PHF20 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 TP53 UBA52 UBB UBC ZNF385A (see all 60) (see less)
29	Regulation of RUNX2 expression and activity	Reactome	ADRM1 BMP2 CBFB CUL1 DLX5 DLX6 ESR1 ESRRA GSK3B HIVEP3 MSX2 NKX3-2 NR3C1 PPARGC1A PPARGC1B PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A RUNX2 SEM1 SKP1 SKP2 SMURF1 STAT1 STUB1 TWIST1 UBA52 UBB UBC WWP1 (see all 59) (see less)
30	Regulation of RAS by GAPs	Reactome	ADRM1 CUL3 DAB2IP HRAS KBTBD7 KRAS NF1 NRAS PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RASA1 RASA2 RASA3 RASA4 RASAL1 RASAL2 RASAL3 RBX1 RPS27A SEM1 SPRED1 SPRED2 SPRED3 SYNGAP1 UBA52 UBB UBC (see all 55) (see less)
31	Regulation of PTEN stability and activity	Reactome	ADRM1 AKT1 AKT2 AKT3 CSNK2A1 CSNK2A2 CSNK2B FRK MKRN1 NEDD4 OTUD3 PREX2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTEN RNF146 RPS27A SEM1 STUB1 TNKS TNKS2 TRIM27 UBA52 UBB UBC USP13 WWP2 (see all 55) (see less)
32	p53-Dependent G1/S DNA damage checkpoint	Reactome	ADRM1 ATM CCNA1 CCNA2 CCNE1 CCNE2 CDK2 CDKN1A CDKN1B CDKN2A CHEK2 COP1 MDM2 MDM4 PCBP4 PHF20 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 TP53 UBA52 UBB UBC ZNF385A (see all 53) (see less)
33	p53-Dependent G1 DNA Damage Response	Reactome	ADRM1 ATM CCNA1 CCNA2 CCNE1 CCNE2 CDK2 CDKN1A CDKN1B CDKN2A CHEK2 COP1 MDM2 MDM4 PCBP4 PHF20 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 TP53 UBA52 UBB UBC ZNF385A (see all 53) (see less)
34	Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha	Reactome	ADRM1 AJUBA CUL2 EGLN1 EGLN2 EGLN3 ELOB ELOC EPAS1 HIF1A HIF3A LIMD1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 UBA52 UBB UBC UBE2D1 UBE2D2 UBE2D3 VHL WTIP (see all 53) (see less)
35	Proteasome assembly	Reactome	ADRM1 PAAF1 POMP PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMA8 PSMB1 PSMB10 PSMB11 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD10 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 PSMD8 PSMD9 PSME1 PSME2 PSME3 PSME4 PSMF1 PSMG1 PSMG2 PSMG3 PSMG4 SEM1 (see all 52) (see less)
36	Hedgehog ligand biogenesis	Reactome	ADAM17 ADRM1 DERL2 DHH DISP2 ERLEC1 GPC5 HHAT IHH NOTUM OS9 P4HB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SCUBE2 SEL1L SEM1 SHH SYVN1 UBA52 UBB UBC VCP (see all 52) (see less)
37	SREBP Proteolysis	QIAGEN	AMFR CASP2 FBXW7 GSK3A GSK3B INSIG1 IPO5 KPNB1 LDLR MBTPS1 MBTPS2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD2 PSMD3 PSMD4 PSMD5 PSMD6 PSMD7 SAR1A SCAP SEC23A SEC23B SEC24A SEC24B SEC24C SEC24D SREBF1 SREBF2 TNPO1 (see all 52) (see less)
38	Activation of NF-kappaB in B cells	Reactome	ADRM1 BTRC CHUK CUL1 FBXW11 IKBKB IKBKG MAP3K7 NFKB1 NFKBIA NFKBIB NFKBIE PRKCB PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 REL RELA RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 51) (see less)
39	Asymmetric localization of PCP proteins	Reactome	ADRM1 DVL2 FZD1 FZD2 FZD3 FZD4 FZD5 FZD7 FZD8 PARD6A PRICKLE1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SCRIB SEM1 SMURF1 SMURF2 UBA52 UBB UBC VANGL2 WNT5A (see all 51) (see less)
40	SCF(Skp2)-mediated degradation of p27/p21	Reactome	ADRM1 CCNA1 CCNA2 CCND1 CCNE1 CCNE2 CDK2 CDK4 CDKN1A CDKN1B CKS1B CUL1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PTK6 RPS27A SEM1 SKP1 SKP2 UBA52 UBB UBC (see all 50) (see less)
41	Degradation of CRY and PER proteins	Reactome	ADRM1 BTRC CRY1 CRY2 CUL1 FBXL3 FBXW11 PER1 PER2 PER3 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 UBA52 UBB UBC UBE2D1 (see all 48) (see less)
42	Defective CFTR causes cystic fibrosis	Reactome	ADRM1 CFTR DERL1 DERL2 DERL3 ERLEC1 ERLIN1 ERLIN2 OS9 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RNF185 RNF5 RPS27A SEL1L SEM1 UBA52 UBB UBC VCP (see all 48) (see less)
43	Dectin-1 mediated noncanonical NF-kB signaling	Reactome	ADRM1 BTRC CHUK CUL1 FBXW11 MAP3K14 NFKB2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RELA RELB RPS27A SEM1 SKP1 UBA3 UBA52 UBB UBC UBE2M (see all 47) (see less)
44	Degradation of GLI2 by the proteasome	Reactome	ADRM1 BTRC CSNK1A1 CUL1 GLI2 GSK3B PRKACA PRKACB PRKACG PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 SUFU UBA52 UBB UBC (see all 47) (see less)
45	GLI3 is processed to GLI3R by the proteasome	Reactome	ADRM1 BTRC CSNK1A1 CUL1 GLI3 GSK3B PRKACA PRKACB PRKACG PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 SUFU UBA52 UBB UBC (see all 47) (see less)
46	Degradation of GLI1 by the proteasome	Reactome	ADRM1 BTRC CUL1 GLI1 ITCH NUMB PRKACA PRKACB PRKACG PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 SUFU UBA52 UBB UBC (see all 47) (see less)
47	Metabolism of polyamines	Reactome	ADRM1 AGMAT AMD1 AZIN1 AZIN2 NQO1 OAZ1 OAZ2 OAZ3 ODC1 PAOX PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 SAT1 SEM1 SMOX SMS SRM (see all 46) (see less)
48	NIK-->noncanonical NF-kB signaling	Reactome	ADRM1 BTRC CHUK CUL1 FBXW11 MAP3K14 NFKB2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RELB RPS27A SEM1 SKP1 UBA3 UBA52 UBB UBC UBE2M (see all 46) (see less)
49	Hh mutants abrogate ligand secretion	Reactome	ADRM1 DERL2 DHH ERLEC1 HHAT IHH OS9 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEL1L SEM1 SHH SYVN1 UBA52 UBB UBC VCP (see all 46) (see less)
50	Regulation of RUNX3 expression and activity	Reactome	ADRM1 CBFB CDKN2A EP300 MDM2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A RUNX3 SEM1 SMURF1 SMURF2 SRC TGFB1 UBA52 UBB UBC (see all 45) (see less)
51	Ubiquitin-Mediated Degradation of Phosphorylated Cdc25A	Reactome	ADRM1 BTRC CDC25A CHEK1 CHEK2 CUL1 FBXW11 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 44) (see less)
52	Stabilization of p53	Reactome	ADRM1 ATM CDKN2A CHEK2 COP1 MDM2 MDM4 PHF20 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 TP53 UBA52 UBB UBC (see all 44) (see less)
53	p53-Independent G1/S DNA Damage Checkpoint	Reactome	ADRM1 BTRC CDC25A CHEK1 CHEK2 CUL1 FBXW11 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 44) (see less)
54	Negative regulation of NOTCH4 signaling	Reactome	ADRM1 AKT1 CUL1 FBXW7 NOTCH4 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 TACC3 UBA52 UBB UBC YWHAZ (see all 44) (see less)
55	Degradation of DVL	Reactome	ADRM1 CUL3 DACT1 DVL1 DVL2 DVL3 HECW1 KLHL12 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 UBA52 UBB UBC (see all 44) (see less)
56	Hh mutants are degraded by ERAD	Reactome	ADRM1 DERL2 ERLEC1 OS9 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEL1L SEM1 SHH SYVN1 UBA52 UBB UBC VCP (see all 43) (see less)
57	AUF1 (hnRNP D0) binds and destabilizes mRNA	Reactome	ADRM1 EIF4G1 HNRNPD HSPA1A HSPA1B HSPA8 HSPB1 PABPC1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 UBA52 UBB UBC (see all 43) (see less)
58	SCF-beta-TrCP mediated degradation of Emi1	Reactome	ADRM1 BTRC CDC20 CUL1 FBXO5 FZR1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 42) (see less)
59	Degradation of AXIN	Reactome	ADRM1 AXIN1 AXIN2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RNF146 RPS27A SEM1 SMURF2 TNKS TNKS2 UBA52 UBB UBC (see all 42) (see less)
60	GSK3B and BTRC:CUL1-mediated-degradation of NFE2L2	Reactome	ADRM1 BTRC CUL1 GSK3B NFE2L2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 42) (see less)
61	FBXL7 down-regulates AURKA during mitotic entry and in early mitosis	Reactome	ADRM1 AURKA CUL1 FBXL18 FBXL7 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 42) (see less)
62	Cross-presentation of soluble exogenous antigens (endosomes)	Reactome	ADRM1 CD207 FCGR1A MRC1 MRC2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSME1 PSME2 SEM1 (see all 41) (see less)
63	Vif-mediated degradation of APOBEC3G	Reactome	ADRM1 APOBEC3G CUL5 ELOB ELOC PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RBX1 RPS27A SEM1 UBA52 UBB UBC (see all 41) (see less)
64	Regulation of Apoptosis	Reactome	ADRM1 ARHGAP10 OMA1 OPA1 PAK2 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 UBA52 UBB UBC (see all 40) (see less)
65	Autodegradation of the E3 ubiquitin ligase COP1	Reactome	ADRM1 ATM COP1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 TP53 UBA52 UBB UBC (see all 39) (see less)
66	Ubiquitin-dependent degradation of Cyclin D	Reactome	ADRM1 CCND1 CDK4 GSK3B PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 UBA52 UBB UBC (see all 39) (see less)
67	Vpu mediated degradation of CD4	Reactome	ADRM1 BTRC CD4 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 RPS27A SEM1 SKP1 UBA52 UBB UBC (see all 39) (see less)
68	Regulation of ornithine decarboxylase (ODC)	Reactome	ADRM1 AZIN1 NQO1 OAZ1 OAZ2 OAZ3 ODC1 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 SEM1 (see all 38) (see less)
69	Antigen activates B Cell Receptor (BCR) leading to generation of second messengers	Reactome	AHCYL1 BLK BLNK BTK CALM1 CALM2 CALM3 CD19 CD22 CD79A CD79B DAPP1 FYN GRB2 ITPR1 ITPR2 ITPR3 LYN NCK1 ORAI1 ORAI2 PIK3AP1 PIK3CD PIK3R1 PLCG2 PTPN6 SH3KBP1 SOS1 STIM1 SYK TRPC1 VAV1 (see all 32) (see less)
70	NOTCH4 Intracellular Domain Regulates Transcription	Reactome	ACTA2 CREBBP EP300 FLT4 HES1 HES5 HEY1 HEY2 KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 NOTCH1 NOTCH2 NOTCH4 RBPJ SMAD3 SNW1 (see all 20) (see less)
71	Antigen processing: Ub, ATP-independent proteasomal degradation	Reactome	PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSME1 PSME2 (see all 19) (see less)
72	ABC transporters in lipid homeostasis	Reactome	ABCA10 ABCA12 ABCA2 ABCA3 ABCA5 ABCA6 ABCA7 ABCA9 ABCD1 ABCD2 ABCD3 ABCG1 ABCG4 ABCG5 ABCG8 APOA1 PEX19 PEX3 (see all 18) (see less)
73	TNF receptor superfamily (TNFSF) members mediating non-canonical NF-kB pathway	Reactome	BIRC2 BIRC3 CD40 CD40LG LTA LTB LTBR MAP3K14 TNFRSF11A TNFRSF12A TNFRSF13C TNFSF11 TNFSF12 TNFSF13B TNFSF14 TRAF2 TRAF3 (see all 17) (see less)
74	KSRP (KHSRP) binds and destabilizes mRNA	Reactome	AKT1 DCP2 DIS3 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 KHSRP MAPK11 MAPK14 PARN YWHAZ (see all 17) (see less)
75	Butyrate Response Factor 1 (BRF1) binds and destabilizes mRNA	Reactome	AKT1 DCP1A DCP2 DIS3 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 MAPKAPK2 XRN1 YWHAB ZFP36L1 (see all 17) (see less)
76	Tristetraprolin (TTP, ZFP36) binds and destabilizes mRNA	Reactome	DCP1A DCP2 DIS3 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 MAPKAPK2 TNPO1 XRN1 YWHAB ZFP36 (see all 17) (see less)
77	WNT5A-dependent internalization of FZD4	Reactome	AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 ARRB2 CLTA CLTB CLTC DVL2 FZD4 PRKCA PRKCB PRKCG WNT5A (see all 15) (see less)
78	RUNX3 regulates NOTCH signaling	Reactome	CREBBP EP300 HES1 JAG1 KAT2A KAT2B MAML1 MAML2 MAML3 MAMLD1 NOTCH1 RBPJ RUNX3 SNW1 (see all 14) (see less)
79	Phosphorylation and nuclear translocation of the CRY:PER:kinase complex	Reactome	CDK5 CRY1 CRY2 CSNK1D CSNK1E CSNK2A1 CSNK2A2 CSNK2B PER1 PER2 PER3 PPP1CA PPP1CB PPP1CC (see all 14) (see less)
80	WNT5A-dependent internalization of FZD2, FZD5 and ROR2	Reactome	AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 CLTA CLTB CLTC FZD2 FZD5 ROR1 ROR2 WNT5A (see all 13) (see less)
81	Repression of WNT target genes	Reactome	CTBP1 CTBP2 HDAC1 LEF1 TCF7 TCF7L1 TCF7L2 TLE1 TLE2 TLE3 TLE4 TLE5 (see all 12) (see less)
82	The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex	Reactome	BMAL1 CLOCK CREBBP CRY1 CRY2 CSNK1D CSNK1E KMT2A NPAS2 PER1 PER2 PER3 (see all 12) (see less)
83	Circadian Clock in Mammals	QIAGEN	BHLHE40 BHLHE41 BMAL1 CLOCK CRY1 CRY2 CSNK1E NR1D1 PER1 PER2 PER3 RORA (see all 12) (see less)
84	Calcineurin activates NFAT	Reactome	CALM1 CALM2 CALM3 FKBP1A NFATC1 NFATC2 NFATC3 PPIA PPP3CA PPP3CB PPP3R1 (see all 11) (see less)
85	Regulation of gene expression by Hypoxia-inducible Factor	Reactome	ARNT CA9 CITED2 CREBBP EP300 EPAS1 EPO HIF1A HIF3A HIGD1A VEGFA (see all 11) (see less)
86	NOTCH4 Activation and Transmission of Signal to the Nucleus	Reactome	ADAM10 APH1A APH1B DLL4 JAG1 NCSTN NOTCH4 PSEN1 PSEN2 PSENEN YWHAZ (see all 11) (see less)
87	RUNX3 regulates p14-ARF	Reactome	BRD2 CBFB CCND1 EP300 HDAC4 KRAS RUNX1 RUNX3 TGFB1 (see all 9) (see less)
88	RUNX2 regulates genes involved in cell migration	Reactome	AKT1 AKT2 AKT3 CBFB ITGA5 ITGBL1 MMP13 RUNX2 (see all 8) (see less)
89	Release of Hh-Np from the secreting cell	Reactome	ADAM17 DHH DISP2 GPC5 IHH NOTUM SCUBE2 SHH (see all 8) (see less)
90	RUNX3 regulates WNT signaling	Reactome	CCND1 CTNNB1 LEF1 MYC RUNX3 TCF7 TCF7L1 TCF7L2 (see all 8) (see less)
91	RUNX3 regulates YAP1-mediated transcription	Reactome	CCN2 RUNX3 TEAD1 TEAD2 TEAD3 TEAD4 WWTR1 YAP1 (see all 8) (see less)
92	HuR (ELAVL1) binds and stabilizes mRNA	Reactome	ANP32A ELAVL1 NUP214 PRKCA PRKCD SET TNFSF13 XPO1 (see all 8) (see less)
93	RAS signaling downstream of NF1 loss-of-function variants	Reactome	HRAS KRAS NF1 NRAS SPRED1 SPRED2 SPRED3 (see all 7) (see less)
94	RUNX3 regulates CDKN1A transcription	Reactome	CDKN1A RUNX3 SMAD3 SMAD4 TGFB1 TP53 ZFHX3 (see all 7) (see less)
95	RUNX3 Regulates Immune Response and Cell Migration	Reactome	CBFB ITGA4 ITGAL RORC RUNX3 SPP1 (see all 6) (see less)
96	CD22 mediated BCR regulation	Reactome	CD22 CD79A CD79B LYN PTPN6
97	RUNX3 regulates BCL2L11 (BIM) transcription	Reactome	BCL2L11 FOXO3 RUNX3 SMAD3 SMAD4
98	Phosphorylation and nuclear translocation of BMAL1 (ARNTL) and CLOCK	Reactome	BMAL1 CDK5 CLOCK CSNK2A1 CSNK2B
99	Mitochondrial ABC transporters	Reactome	ABCB10 ABCB6 ABCB7 ABCB8
100	superpathway of polyamine biosynthesis II	PubChem	AZIN2 ODC1 SMS SRM
101	Phosphorylation of CLOCK, acetylation of BMAL1 (ARNTL) at target gene promoters	Reactome	BMAL1 CLOCK CREBBP KMT2A
102	Interconversion of polyamines	Reactome	PAOX SAT1 SMOX
103	Signaling by TCF7L2 mutants	Reactome	CTBP1 CTBP2 TCF7L2
104	B-Cell Receptor Complex	QIAGEN	CD79A CD79B
105	PAOs oxidise polyamines to amines	Reactome	PAOX SMOX
106	Regulation of PAK-2p34 activity by PS-GAP/RHG10	Reactome	ARHGAP10 PAK2
107	spermine and spermidine degradation I	PubChem	SAT1 SMOX
108	RUNX3 regulates RUNX1-mediated transcription	Reactome	CBFB RUNX3
109	Defective ABCA12 causes ARCI4B	Reactome	ABCA12
110	Defective ABCB6 causes MCOPCB7	Reactome	ABCB6
111	Stimulation of the cell death response by PAK-2p34	Reactome	PAK2
112	putrescine biosynthesis III	PubChem	ODC1

Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways

#	Symbol	Description	Category	# Related Pathways
1	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	67
2	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	67
3	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	67
4	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	67
5	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	67
6	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	67
7	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	67
8	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	67
9	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	67
10	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	67
11	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	66
12	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	66
13	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	66
14	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	66
15	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	66
16	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	66
17	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	66
18	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	66
19	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	66
20	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	66
21	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	66
22	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	66
23	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	66
24	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	66
25	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	66
26	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	65
27	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	65
28	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	65
29	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	65
30	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	64
31	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	61
32	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	61
33	UBB	Ubiquitin B	Protein Coding	59
34	UBC	Ubiquitin C	Protein Coding	59
35	RPS27A	Ribosomal Protein S27a	Protein Coding	57
36	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	57
37	CUL1	Cullin 1	Protein Coding	28
38	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	27
39	RBX1	Ring-Box 1	Protein Coding	20
40	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	19
41	FBXW11	F-Box And WD Repeat Domain Containing 11	Protein Coding	12
42	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	10
43	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	10
44	RUNX3	RUNX Family Transcription Factor 3	Protein Coding	10
45	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	9
46	EP300	EP300 Lysine Acetyltransferase	Protein Coding	9
47	CCNE1	Cyclin E1	Protein Coding	9
48	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	8
49	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	8
50	CCND1	Cyclin D1	Protein Coding	8
51	CBFB	Core-Binding Factor Subunit Beta	Protein Coding	8
52	TP53	Tumor Protein P53	Protein Coding	8
53	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	7
54	TCF7L2	Transcription Factor 7 Like 2	Protein Coding	7
55	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	7
56	CCNE2	Cyclin E2	Protein Coding	7
57	PSMD4	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 4	Protein Coding	7
58	PSMD5	Proteasome 26S Subunit, Non-ATPase 5	Protein Coding	7
59	LEF1	Lymphoid Enhancer Binding Factor 1	Protein Coding	6
60	PRKCA	Protein Kinase C Alpha	Protein Coding	6
61	PRKCB	Protein Kinase C Beta	Protein Coding	6
62	SMURF2	SMAD Specific E3 Ubiquitin Protein Ligase 2	Protein Coding	6
63	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	6
64	TCF7	Transcription Factor 7	Protein Coding	6
65	WNT5A	Wnt Family Member 5A	Protein Coding	6
66	CALM1	Calmodulin 1	Protein Coding	6
67	CALM2	Calmodulin 2	Protein Coding	6
68	CALM3	Calmodulin 3	Protein Coding	6
69	TCF7L1	Transcription Factor 7 Like 1	Protein Coding	6
70	UBE2D1	Ubiquitin Conjugating Enzyme E2 D1	Protein Coding	6
71	STUB1	STIP1 Homology And U-Box Containing Protein 1	Protein Coding	6
72	OS9	OS9 Endoplasmic Reticulum Lectin	Protein Coding	6
73	ERLEC1	Endoplasmic Reticulum Lectin 1	Protein Coding	6
74	DERL2	Derlin 2	Protein Coding	6
75	SEL1L	SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase	Protein Coding	6
76	VCP	Valosin Containing Protein	Protein Coding	6
77	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	6
78	MDM2	MDM2 Proto-Oncogene	Protein Coding	6
79	CDK2	Cyclin Dependent Kinase 2	Protein Coding	6
80	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	6
81	CCNA2	Cyclin A2	Protein Coding	6
82	CCNA1	Cyclin A1	Protein Coding	6
83	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	6
84	PSMB9	Proteasome 20S Subunit Beta 9	Protein Coding	6
85	PSMB10	Proteasome 20S Subunit Beta 10	Protein Coding	6
86	CHEK2	Checkpoint Kinase 2	Protein Coding	6
87	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	5
88	CTNNB1	Catenin Beta 1	Protein Coding	5
89	DVL2	Dishevelled Segment Polarity Protein 2	Protein Coding	5
90	FZD2	Frizzled Class Receptor 2	Protein Coding	5
91	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	5
92	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	5
93	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	5
94	PPP3R1	Protein Phosphatase 3 Regulatory Subunit B, Alpha	Protein Coding	5
95	FZD5	Frizzled Class Receptor 5	Protein Coding	5
96	FZD4	Frizzled Class Receptor 4	Protein Coding	5
97	CRY1	Cryptochrome Circadian Regulator 1	Protein Coding	5
98	CRY2	Cryptochrome Circadian Regulator 2	Protein Coding	5
99	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	5
100	PER1	Period Circadian Regulator 1	Protein Coding	5
101	PER3	Period Circadian Regulator 3	Protein Coding	5
102	PER2	Period Circadian Regulator 2	Protein Coding	5
103	CLOCK	Clock Circadian Regulator	Protein Coding	5
104	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	5
105	CDK4	Cyclin Dependent Kinase 4	Protein Coding	5
106	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	5
107	HES1	Hes Family BHLH Transcription Factor 1	Protein Coding	5
108	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	5
109	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	5
110	TGFB1	Transforming Growth Factor Beta 1	Protein Coding	5
111	SMAD3	SMAD Family Member 3	Protein Coding	5
112	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	5
113	CDC25A	Cell Division Cycle 25A	Protein Coding	5
114	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	5
115	PSMD9	Proteasome 26S Subunit, Non-ATPase 9	Protein Coding	5
116	PSMD10	Proteasome 26S Subunit, Non-ATPase 10	Protein Coding	5
117	PSME1	Proteasome Activator Subunit 1	Protein Coding	5
118	PSME2	Proteasome Activator Subunit 2	Protein Coding	5
119	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	5
120	ATM	ATM Serine/Threonine Kinase	Protein Coding	5
121	COP1	COP1 E3 Ubiquitin Ligase	Protein Coding	5
122	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	4
123	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	4
124	CLTA	Clathrin Light Chain A	Protein Coding	4
125	CLTB	Clathrin Light Chain B	Protein Coding	4
126	CLTC	Clathrin Heavy Chain	Protein Coding	4
127	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	4
128	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	4
129	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	4
130	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	4
131	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	4
132	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	4
133	FZD3	Frizzled Class Receptor 3	Protein Coding	4
134	CSNK1E	Casein Kinase 1 Epsilon	Protein Coding	4
135	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	4
136	CSNK2B	Casein Kinase 2 Beta	Protein Coding	4
137	IHH	Indian Hedgehog Signaling Molecule	Protein Coding	4
138	SMAD4	SMAD Family Member 4	Protein Coding	4
139	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	4
140	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	4
141	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	4
142	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	4
143	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	4
144	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	4
145	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	4
146	CD79A	CD79a Molecule	Protein Coding	4
147	CD79B	CD79b Molecule	Protein Coding	4
148	ABCB6	ATP Binding Cassette Subfamily B Member 6 (LAN Blood Group)	Protein Coding	4
149	ABCA12	ATP Binding Cassette Subfamily A Member 12	Protein Coding	4
150	MAMLD1	Mastermind Like Domain Containing 1	Protein Coding	4
151	JAG1	Jagged Canonical Notch Ligand 1	Protein Coding	4
152	SNW1	SNW Domain Containing 1	Protein Coding	4
153	KAT2A	Lysine Acetyltransferase 2A	Protein Coding	4
154	RBPJ	Recombination Signal Binding Protein For Immunoglobulin Kappa J Region	Protein Coding	4
155	NOTCH1	Notch Receptor 1	Protein Coding	4
156	MAML3	Mastermind Like Transcriptional Coactivator 3	Protein Coding	4
157	MAML2	Mastermind Like Transcriptional Coactivator 2	Protein Coding	4
158	KAT2B	Lysine Acetyltransferase 2B	Protein Coding	4
159	MAML1	Mastermind Like Transcriptional Coactivator 1	Protein Coding	4
160	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	4
161	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	4
162	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	4
163	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	4
164	EXOSC8	Exosome Component 8	Protein Coding	4
165	EXOSC6	Exosome Component 6	Protein Coding	4
166	DCP2	Decapping MRNA 2	Protein Coding	4
167	DIS3	DIS3 Exosome Endoribonuclease And 3''''-5'''' Exoribonuclease	Protein Coding	4
168	EXOSC7	Exosome Component 7	Protein Coding	4
169	EXOSC2	Exosome Component 2	Protein Coding	4
170	HSPA1A	Heat Shock Protein Family A (Hsp70) Member 1A	Protein Coding	4
171	HSPA1B	Heat Shock Protein Family A (Hsp70) Member 1B	Protein Coding	4
172	HSPA8	Heat Shock Protein Family A (Hsp70) Member 8	Protein Coding	4
173	EXOSC3	Exosome Component 3	Protein Coding	4
174	EXOSC1	Exosome Component 1	Protein Coding	4
175	EXOSC9	Exosome Component 9	Protein Coding	4
176	EXOSC4	Exosome Component 4	Protein Coding	4
177	EXOSC5	Exosome Component 5	Protein Coding	4
178	TUBA3C	Tubulin Alpha 3c	Protein Coding	4
179	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	4
180	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	4
181	TUBA4A	Tubulin Alpha 4a	Protein Coding	4
182	TUBA8	Tubulin Alpha 8	Protein Coding	4
183	NOTCH4	Notch Receptor 4	Protein Coding	4
184	UBE2D2	Ubiquitin Conjugating Enzyme E2 D2	Protein Coding	4
185	MDM4	MDM4 Regulator Of P53	Protein Coding	4
186	PHF20	PHD Finger Protein 20	Protein Coding	4
187	SHH	Sonic Hedgehog Signaling Molecule	Protein Coding	4
188	ODC1	Ornithine Decarboxylase 1	Protein Coding	4
189	SMOX	Spermine Oxidase	Protein Coding	4
190	PRICKLE1	Prickle Planar Cell Polarity Protein 1	Protein Coding	3
191	DVL1	Dishevelled Segment Polarity Protein 1	Protein Coding	3
192	DVL3	Dishevelled Segment Polarity Protein 3	Protein Coding	3
193	AGO3	Argonaute RISC Catalytic Component 3	Protein Coding	3
194	AGO4	Argonaute RISC Component 4	Protein Coding	3
195	TNRC6B	Trinucleotide Repeat Containing Adaptor 6B	Protein Coding	3
196	SCRIB	Scribble Planar Cell Polarity Protein	Protein Coding	3
197	AGO1	Argonaute RISC Component 1	Protein Coding	3
198	AGO2	Argonaute RISC Catalytic Component 2	Protein Coding	3
199	TNRC6A	Trinucleotide Repeat Containing Adaptor 6A	Protein Coding	3
200	ARRB2	Arrestin Beta 2	Protein Coding	3
201	MOV10	Mov10 RNA Helicase	Protein Coding	3
202	ROR1	Receptor Tyrosine Kinase Like Orphan Receptor 1	Protein Coding	3
203	ROR2	Receptor Tyrosine Kinase Like Orphan Receptor 2	Protein Coding	3
204	PARD6A	Par-6 Family Cell Polarity Regulator Alpha	Protein Coding	3
205	PRKCG	Protein Kinase C Gamma	Protein Coding	3
206	VANGL2	VANGL Planar Cell Polarity Protein 2	Protein Coding	3
207	TNRC6C	Trinucleotide Repeat Containing Adaptor 6C	Protein Coding	3
208	RAC1	Rac Family Small GTPase 1	Protein Coding	3
209	WNT11	Wnt Family Member 11	Protein Coding	3
210	FZD1	Frizzled Class Receptor 1	Protein Coding	3
211	FZD6	Frizzled Class Receptor 6	Protein Coding	3
212	FZD7	Frizzled Class Receptor 7	Protein Coding	3
213	FZD8	Frizzled Class Receptor 8	Protein Coding	3
214	CDK5	Cyclin Dependent Kinase 5	Protein Coding	3
215	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	3
216	CSNK1D	Casein Kinase 1 Delta	Protein Coding	3
217	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	3
218	KMT2A	Lysine Methyltransferase 2A	Protein Coding	3
219	RORC	RAR Related Orphan Receptor C	Protein Coding	3
220	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	3
221	HEY1	Hes Related Family BHLH Transcription Factor With YRPW Motif 1	Protein Coding	3
222	HEY2	Hes Related Family BHLH Transcription Factor With YRPW Motif 2	Protein Coding	3
223	WWTR1	WW Domain Containing Transcription Regulator 1	Protein Coding	3
224	RB1	RB Transcriptional Corepressor 1	Protein Coding	3
225	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	3
226	RUNX2	RUNX Family Transcription Factor 2	Protein Coding	3
227	RUNX1	RUNX Family Transcription Factor 1	Protein Coding	3
228	HDAC4	Histone Deacetylase 4	Protein Coding	3
229	CDK1	Cyclin Dependent Kinase 1	Protein Coding	3
230	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	3
231	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	3
232	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	3
233	NFATC3	Nuclear Factor Of Activated T Cells 3	Protein Coding	3
234	NFKBIB	NFKB Inhibitor Beta	Protein Coding	3
235	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	3
236	PPIA	Peptidylprolyl Isomerase A	Protein Coding	3
237	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	3
238	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	3
239	CD22	CD22 Molecule	Protein Coding	3
240	ERLIN1	ER Lipid Raft Associated 1	Protein Coding	3
241	CFTR	CF Transmembrane Conductance Regulator	Protein Coding	3
242	ERLIN2	ER Lipid Raft Associated 2	Protein Coding	3
243	ABCA3	ATP Binding Cassette Subfamily A Member 3	Protein Coding	3
244	ABCD1	ATP Binding Cassette Subfamily D Member 1	Protein Coding	3
245	APOA1	Apolipoprotein A1	Protein Coding	3
246	RNF5	Ring Finger Protein 5	Protein Coding	3
247	ABCG5	ATP Binding Cassette Subfamily G Member 5	Protein Coding	3
248	ABCG8	ATP Binding Cassette Subfamily G Member 8	Protein Coding	3
249	DERL1	Derlin 1	Protein Coding	3
250	DERL3	Derlin 3	Protein Coding	3
251	RNF185	Ring Finger Protein 185	Protein Coding	3
252	UCHL1	Ubiquitin C-Terminal Hydrolase L1	Protein Coding	3
253	FOXO3	Forkhead Box O3	Protein Coding	3
254	NFKB2	Nuclear Factor Kappa B Subunit 2	Protein Coding	3
255	RELB	RELB Proto-Oncogene, NF-KB Subunit	Protein Coding	3
256	TNFSF13	TNF Superfamily Member 13	Protein Coding	3
257	UBA3	Ubiquitin Like Modifier Activating Enzyme 3	Protein Coding	3
258	UBE2M	Ubiquitin Conjugating Enzyme E2 M	Protein Coding	3
259	HSPB1	Heat Shock Protein Family B (Small) Member 1	Protein Coding	3
260	XPO1	Exportin 1	Protein Coding	3
261	CKS1B	CDC28 Protein Kinase Regulatory Subunit 1B	Protein Coding	3
262	PTK6	Protein Tyrosine Kinase 6	Protein Coding	3
263	TNPO1	Transportin 1	Protein Coding	3
264	XRN1	5''-3'' Exoribonuclease 1	Protein Coding	3
265	DCP1A	Decapping MRNA 1A	Protein Coding	3
266	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	3
267	MAPKAPK2	MAPK Activated Protein Kinase 2	Protein Coding	3
268	PSME3	Proteasome Activator Subunit 3	Protein Coding	3
269	TUBAL3	Tubulin Alpha Like 3	Protein Coding	3
270	TUBA3D	Tubulin Alpha 3d	Protein Coding	3
271	TUBA3E	Tubulin Alpha 3e	Protein Coding	3
272	SNCAIP	Synuclein Alpha Interacting Protein	Protein Coding	3
273	TUBA1C	Tubulin Alpha 1c	Protein Coding	3
274	TUBB6	Tubulin Beta 6 Class V	Protein Coding	3
275	CASP8	Caspase 8	Protein Coding	3
276	CASP1	Caspase 1	Protein Coding	3
277	TUBA1A	Tubulin Alpha 1a	Protein Coding	3
278	UBE2L3	Ubiquitin Conjugating Enzyme E2 L3	Protein Coding	3
279	UBA1	Ubiquitin Like Modifier Activating Enzyme 1	Protein Coding	3
280	SNCA	Synuclein Alpha	Protein Coding	3
281	SEPTIN5	Septin 5	Protein Coding	3
282	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	3
283	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	3
284	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	3
285	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	3
286	GPR37	G Protein-Coupled Receptor 37	Protein Coding	3
287	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	3
288	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	3
289	TUBB3	Tubulin Beta 3 Class III	Protein Coding	3
290	TUBA1B	Tubulin Alpha 1b	Protein Coding	3
291	TUBA4B	Tubulin Alpha 4b	Protein Coding	3
292	TUBB7P	Tubulin Beta 7 Pseudogene	Pseudogene	3
293	CSNK1A1	Casein Kinase 1 Alpha 1	Protein Coding	3
294	CTBP1	C-Terminal Binding Protein 1	Protein Coding	3
295	CTBP2	C-Terminal Binding Protein 2	Protein Coding	3
296	UBE2D3	Ubiquitin Conjugating Enzyme E2 D3	Protein Coding	3
297	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	3
298	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	3
299	HIF3A	Hypoxia Inducible Factor 3 Subunit Alpha	Protein Coding	3
300	ELOC	Elongin C	Protein Coding	3
301	ELOB	Elongin B	Protein Coding	3
302	CHEK1	Checkpoint Kinase 1	Protein Coding	3
303	ZNF385A	Zinc Finger Protein 385A	Protein Coding	3
304	PCBP4	Poly(RC) Binding Protein 4	Protein Coding	3
305	DHH	Desert Hedgehog Signaling Molecule	Protein Coding	3
306	SYVN1	Synoviolin 1	Protein Coding	3
307	SUFU	SUFU Negative Regulator Of Hedgehog Signaling	Protein Coding	3
308	PAOX	Polyamine Oxidase	Protein Coding	3
309	SAT1	Spermidine/Spermine N1-Acetyltransferase 1	Protein Coding	3
310	GNB5	G Protein Subunit Beta 5	Protein Coding	2
311	DAAM1	Dishevelled Associated Activator Of Morphogenesis 1	Protein Coding	2
312	PLCB1	Phospholipase C Beta 1	Protein Coding	2
313	GNAO1	G Protein Subunit Alpha O1	Protein Coding	2
314	GNAT2	G Protein Subunit Alpha Transducin 2	Protein Coding	2
315	GNB1	G Protein Subunit Beta 1	Protein Coding	2
316	GNB2	G Protein Subunit Beta 2	Protein Coding	2
317	GNB3	G Protein Subunit Beta 3	Protein Coding	2
318	GNG3	G Protein Subunit Gamma 3	Protein Coding	2
319	GNG4	G Protein Subunit Gamma 4	Protein Coding	2
320	GNG5	G Protein Subunit Gamma 5	Protein Coding	2
321	GNG7	G Protein Subunit Gamma 7	Protein Coding	2
322	GNG10	G Protein Subunit Gamma 10	Protein Coding	2
323	GNG11	G Protein Subunit Gamma 11	Protein Coding	2
324	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	2
325	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	2
326	RHOA	Ras Homolog Family Member A	Protein Coding	2
327	PDE6A	Phosphodiesterase 6A	Protein Coding	2
328	PDE6G	Phosphodiesterase 6G	Protein Coding	2
329	PDE6B	Phosphodiesterase 6B	Protein Coding	2
330	NLK	Nemo Like Kinase	Protein Coding	2
331	GNG13	G Protein Subunit Gamma 13	Protein Coding	2
332	PFN1	Profilin 1	Protein Coding	2
333	PLCB2	Phospholipase C Beta 2	Protein Coding	2
334	PLCB3	Phospholipase C Beta 3	Protein Coding	2
335	GNG2	G Protein Subunit Gamma 2	Protein Coding	2
336	WNT4	Wnt Family Member 4	Protein Coding	2
337	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	2
338	PRKG2	Protein Kinase CGMP-Dependent 2	Protein Coding	2
339	GNG12	G Protein Subunit Gamma 12	Protein Coding	2
340	RAC2	Rac Family Small GTPase 2	Protein Coding	2
341	RAC3	Rac Family Small GTPase 3	Protein Coding	2
342	GNB4	G Protein Subunit Beta 4	Protein Coding	2
343	RYK	Receptor Like Tyrosine Kinase	Protein Coding	2
344	WNT1	Wnt Family Member 1	Protein Coding	2
345	WNT5B	Wnt Family Member 5B	Protein Coding	2
346	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	2
347	GNG8	G Protein Subunit Gamma 8	Protein Coding	2
348	FBXL3	F-Box And Leucine Rich Repeat Protein 3	Protein Coding	2
349	NPAS2	Neuronal PAS Domain Protein 2	Protein Coding	2
350	PPP1CA	Protein Phosphatase 1 Catalytic Subunit Alpha	Protein Coding	2
351	PPP1CB	Protein Phosphatase 1 Catalytic Subunit Beta	Protein Coding	2
352	PPP1CC	Protein Phosphatase 1 Catalytic Subunit Gamma	Protein Coding	2
353	RORA	RAR Related Orphan Receptor A	Protein Coding	2
354	SREBF1	Sterol Regulatory Element Binding Transcription Factor 1	Protein Coding	2
355	BHLHE41	Basic Helix-Loop-Helix Family Member E41	Protein Coding	2
356	BHLHE40	Basic Helix-Loop-Helix Family Member E40	Protein Coding	2
357	HDAC3	Histone Deacetylase 3	Protein Coding	2
358	NR1D1	Nuclear Receptor Subfamily 1 Group D Member 1	Protein Coding	2
359	WWP1	WW Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	2
360	PPARGC1B	PPARG Coactivator 1 Beta	Protein Coding	2
361	DLX5	Distal-Less Homeobox 5	Protein Coding	2
362	DLX6	Distal-Less Homeobox 6	Protein Coding	2
363	ESR1	Estrogen Receptor 1	Protein Coding	2
364	ESRRA	Estrogen Related Receptor Alpha	Protein Coding	2
365	GLI2	GLI Family Zinc Finger 2	Protein Coding	2
366	GLI3	GLI Family Zinc Finger 3	Protein Coding	2
367	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	2
368	ITGA5	Integrin Subunit Alpha 5	Protein Coding	2
369	MMP13	Matrix Metallopeptidase 13	Protein Coding	2
370	MSX2	Msh Homeobox 2	Protein Coding	2
371	NKX3-2	NK3 Homeobox 2	Protein Coding	2
372	HIVEP3	HIVEP Zinc Finger 3	Protein Coding	2
373	BMP2	Bone Morphogenetic Protein 2	Protein Coding	2
374	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	2
375	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	2
376	CCNB1	Cyclin B1	Protein Coding	2
377	ITGBL1	Integrin Subunit Beta Like 1	Protein Coding	2
378	AHCYL1	Adenosylhomocysteinase Like 1	Protein Coding	2
379	PIK3AP1	Phosphoinositide-3-Kinase Adaptor Protein 1	Protein Coding	2
380	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
381	RASGRP3	RAS Guanyl Releasing Protein 3	Protein Coding	2
382	DAPP1	Dual Adaptor Of Phosphotyrosine And 3-Phosphoinositides 1	Protein Coding	2
383	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	2
384	BLNK	B Cell Linker	Protein Coding	2
385	SH3KBP1	SH3 Domain Containing Kinase Binding Protein 1	Protein Coding	2
386	NCK1	NCK Adaptor Protein 1	Protein Coding	2
387	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	2
388	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	2
389	PLCG2	Phospholipase C Gamma 2	Protein Coding	2
390	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	2
391	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	2
392	STIM1	Stromal Interaction Molecule 1	Protein Coding	2
393	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	2
394	BTK	Bruton Tyrosine Kinase	Protein Coding	2
395	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	2
396	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	2
397	ORAI2	ORAI Calcium Release-Activated Calcium Modulator 2	Protein Coding	2
398	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	2
399	CD19	CD19 Molecule	Protein Coding	2
400	ABCC9	ATP Binding Cassette Subfamily C Member 9	Protein Coding	2
401	ABCA7	ATP Binding Cassette Subfamily A Member 7	Protein Coding	2
402	ABCA10	ATP Binding Cassette Subfamily A Member 10	Protein Coding	2
403	ABCA9	ATP Binding Cassette Subfamily A Member 9	Protein Coding	2
404	ABCB8	ATP Binding Cassette Subfamily B Member 8	Protein Coding	2
405	ABCC2	ATP Binding Cassette Subfamily C Member 2	Protein Coding	2
406	ABCA2	ATP Binding Cassette Subfamily A Member 2	Protein Coding	2
407	ABCB7	ATP Binding Cassette Subfamily B Member 7	Protein Coding	2
408	ABCD2	ATP Binding Cassette Subfamily D Member 2	Protein Coding	2
409	ABCB10	ATP Binding Cassette Subfamily B Member 10	Protein Coding	2
410	ABCA6	ATP Binding Cassette Subfamily A Member 6	Protein Coding	2
411	ABCA5	ATP Binding Cassette Subfamily A Member 5	Protein Coding	2
412	ABCC6	ATP Binding Cassette Subfamily C Member 6	Protein Coding	2
413	KCNJ11	Potassium Inwardly Rectifying Channel Subfamily J Member 11	Protein Coding	2
414	ABCB4	ATP Binding Cassette Subfamily B Member 4	Protein Coding	2
415	PEX19	Peroxisomal Biogenesis Factor 19	Protein Coding	2
416	ABCD3	ATP Binding Cassette Subfamily D Member 3	Protein Coding	2
417	ABCG4	ATP Binding Cassette Subfamily G Member 4	Protein Coding	2
418	PEX3	Peroxisomal Biogenesis Factor 3	Protein Coding	2
419	ABCG1	ATP Binding Cassette Subfamily G Member 1	Protein Coding	2
420	UCHL3	Ubiquitin C-Terminal Hydrolase L3	Protein Coding	2
421	H2AC4	H2A Clustered Histone 4	Protein Coding	2
422	BCL2L11	BCL2 Like 11	Protein Coding	2
423	CCN2	Cellular Communication Network Factor 2	Protein Coding	2
424	ITGA4	Integrin Subunit Alpha 4	Protein Coding	2
425	ITGAL	Integrin Subunit Alpha L	Protein Coding	2
426	ZFHX3	Zinc Finger Homeobox 3	Protein Coding	2
427	BRD2	Bromodomain Containing 2	Protein Coding	2
428	SPP1	Secreted Phosphoprotein 1	Protein Coding	2
429	TEAD1	TEA Domain Transcription Factor 1	Protein Coding	2
430	TEAD4	TEA Domain Transcription Factor 4	Protein Coding	2
431	TEAD3	TEA Domain Transcription Factor 3	Protein Coding	2
432	TEAD2	TEA Domain Transcription Factor 2	Protein Coding	2
433	TNFSF13B	TNF Superfamily Member 13b	Protein Coding	2
434	TNFRSF13C	TNF Receptor Superfamily Member 13C	Protein Coding	2
435	BIRC2	Baculoviral IAP Repeat Containing 2	Protein Coding	2
436	BIRC3	Baculoviral IAP Repeat Containing 3	Protein Coding	2
437	LTA	Lymphotoxin Alpha	Protein Coding	2
438	LTB	Lymphotoxin Beta	Protein Coding	2
439	LTBR	Lymphotoxin Beta Receptor	Protein Coding	2
440	TNFRSF12A	TNF Receptor Superfamily Member 12A	Protein Coding	2
441	TRAF2	TNF Receptor Associated Factor 2	Protein Coding	2
442	TRAF3	TNF Receptor Associated Factor 3	Protein Coding	2
443	TNFSF11	TNF Superfamily Member 11	Protein Coding	2
444	TNFSF14	TNF Superfamily Member 14	Protein Coding	2
445	TNFSF12	TNF Superfamily Member 12	Protein Coding	2
446	TNFRSF11A	TNF Receptor Superfamily Member 11a	Protein Coding	2
447	CD40	CD40 Molecule	Protein Coding	2
448	CD40LG	CD40 Ligand	Protein Coding	2
449	CDK7	Cyclin Dependent Kinase 7	Protein Coding	2
450	LIN54	Lin-54 DREAM MuvB Core Complex Component	Protein Coding	2
451	E2F1	E2F Transcription Factor 1	Protein Coding	2
452	E2F4	E2F Transcription Factor 4	Protein Coding	2
453	E2F5	E2F Transcription Factor 5	Protein Coding	2
454	LIN9	Lin-9 DREAM MuvB Core Complex Component	Protein Coding	2
455	MAX	MYC Associated Transcriptional Regulator X	Protein Coding	2
456	MNAT1	MNAT1 Component Of CDK Activating Kinase	Protein Coding	2
457	FZR1	Fizzy And Cell Division Cycle 20 Related 1	Protein Coding	2
458	LIN37	Lin-37 DREAM MuvB Core Complex Component	Protein Coding	2
459	RBBP4	RB Binding Protein 4, Chromatin Remodeling Factor	Protein Coding	2
460	RBL2	RB Transcriptional Corepressor Like 2	Protein Coding	2
461	TFDP1	Transcription Factor Dp-1	Protein Coding	2
462	TFDP2	Transcription Factor Dp-2	Protein Coding	2
463	WEE1	WEE1 G2 Checkpoint Kinase	Protein Coding	2
464	CCNH	Cyclin H	Protein Coding	2
465	LIN52	Lin-52 DREAM MuvB Core Complex Component	Protein Coding	2
466	CABLES1	Cdk5 And Abl Enzyme Substrate 1	Protein Coding	2
467	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
468	EIF4G1	Eukaryotic Translation Initiation Factor 4 Gamma 1	Protein Coding	2
469	ELAVL1	ELAV Like RNA Binding Protein 1	Protein Coding	2
470	PABPC1	Poly(A) Binding Protein Cytoplasmic 1	Protein Coding	2
471	HNRNPD	Heterogeneous Nuclear Ribonucleoprotein D	Protein Coding	2
472	PARN	Poly(A)-Specific Ribonuclease	Protein Coding	2
473	PRKCD	Protein Kinase C Delta	Protein Coding	2
474	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	2
475	SET	SET Nuclear Proto-Oncogene	Protein Coding	2
476	ZFP36L1	ZFP36 Ring Finger Protein Like 1	Protein Coding	2
477	ZFP36	ZFP36 Ring Finger Protein	Protein Coding	2
478	NUP214	Nucleoporin 214	Protein Coding	2
479	ANP32A	Acidic Nuclear Phosphoprotein 32 Family Member A	Protein Coding	2
480	KHSRP	KH-Type Splicing Regulatory Protein	Protein Coding	2
481	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	2
482	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	2
483	HLA-C	Major Histocompatibility Complex, Class I, C	Protein Coding	2
484	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	2
485	HSP90AB1	Heat Shock Protein 90 Alpha Family Class B Member 1	Protein Coding	2
486	PSMA8	Proteasome 20S Subunit Alpha 8	Protein Coding	2
487	UBE2L6	Ubiquitin Conjugating Enzyme E2 L6	Protein Coding	2
488	CASK	Calcium/Calmodulin Dependent Serine Protein Kinase	Protein Coding	2
489	SIAH2	Siah E3 Ubiquitin Protein Ligase 2	Protein Coding	2
490	HSPA14	Heat Shock Protein Family A (Hsp70) Member 14	Protein Coding	2
491	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	2
492	HSPA6	Heat Shock Protein Family A (Hsp70) Member 6	Protein Coding	2
493	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	2
494	HSPA2	Heat Shock Protein Family A (Hsp70) Member 2	Protein Coding	2
495	HSPA1L	Heat Shock Protein Family A (Hsp70) Member 1 Like	Protein Coding	2
496	RNF19A	Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase	Protein Coding	2
497	TUBB	Tubulin Beta Class I	Protein Coding	2
498	UBE2J2	Ubiquitin Conjugating Enzyme E2 J2	Protein Coding	2
499	UBE2G2	Ubiquitin Conjugating Enzyme E2 G2	Protein Coding	2
500	UBE2G1	Ubiquitin Conjugating Enzyme E2 G1	Protein Coding	2
501	SIAH1	Siah E3 Ubiquitin Protein Ligase 1	Protein Coding	2
502	UBE2J1	Ubiquitin Conjugating Enzyme E2 J1	Protein Coding	2
503	HSPA7	Heat Shock Protein Family A (Hsp70) Member 7 (Pseudogene)	Pseudogene	2
504	ADAM10	ADAM Metallopeptidase Domain 10	Protein Coding	2
505	TACC3	Transforming Acidic Coiled-Coil Containing Protein 3	Protein Coding	2
506	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	2
507	NCSTN	Nicastrin	Protein Coding	2
508	HES5	Hes Family BHLH Transcription Factor 5	Protein Coding	2
509	NOTCH2	Notch Receptor 2	Protein Coding	2
510	APH1A	Aph-1A Gamma-Secretase Subunit	Protein Coding	2
511	DLL4	Delta Like Canonical Notch Ligand 4	Protein Coding	2
512	PSENEN	Presenilin Enhancer, Gamma-Secretase Subunit	Protein Coding	2
513	PSEN1	Presenilin 1	Protein Coding	2
514	PSEN2	Presenilin 2	Protein Coding	2
515	ACTA2	Actin Alpha 2, Smooth Muscle	Protein Coding	2
516	APH1B	Aph-1B Gamma-Secretase Subunit	Protein Coding	2
517	TLE5	TLE Family Member 5, Transcriptional Modulator	Protein Coding	2
518	HDAC1	Histone Deacetylase 1	Protein Coding	2
519	TLE1	TLE Family Member 1, Transcriptional Corepressor	Protein Coding	2
520	TLE2	TLE Family Member 2, Transcriptional Corepressor	Protein Coding	2
521	TLE3	TLE Family Member 3, Transcriptional Corepressor	Protein Coding	2
522	TLE4	TLE Family Member 4, Transcriptional Corepressor	Protein Coding	2
523	AXIN1	Axin 1	Protein Coding	2
524	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	2
525	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	2
526	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	2
527	EGLN3	Egl-9 Family Hypoxia Inducible Factor 3	Protein Coding	2
528	WTIP	WT1 Interacting Protein	Protein Coding	2
529	EPO	Erythropoietin	Protein Coding	2
530	HIGD1A	HIG1 Hypoxia Inducible Domain Family Member 1A	Protein Coding	2
531	ARNT	Aryl Hydrocarbon Receptor Nuclear Translocator	Protein Coding	2
532	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	2
533	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	2
534	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	2
535	CA9	Carbonic Anhydrase 9	Protein Coding	2
536	CUL2	Cullin 2	Protein Coding	2
537	AJUBA	Ajuba LIM Protein	Protein Coding	2
538	LIMD1	LIM Domain Containing 1	Protein Coding	2
539	SPRED1	Sprouty Related EVH1 Domain Containing 1	Protein Coding	2
540	SPRED2	Sprouty Related EVH1 Domain Containing 2	Protein Coding	2
541	SPRED3	Sprouty Related EVH1 Domain Containing 3	Protein Coding	2
542	NF1	Neurofibromin 1	Protein Coding	2
543	CUL3	Cullin 3	Protein Coding	2
544	TNKS2	Tankyrase 2	Protein Coding	2
545	RNF146	Ring Finger Protein 146	Protein Coding	2
546	TNKS	Tankyrase	Protein Coding	2
547	NOTUM	Notum, Palmitoleoyl-Protein Carboxylesterase	Protein Coding	2
548	GPC5	Glypican 5	Protein Coding	2
549	HHAT	Hedgehog Acyltransferase	Protein Coding	2
550	SCUBE2	Signal Peptide, CUB Domain And EGF Like Domain Containing 2	Protein Coding	2
551	ADAM17	ADAM Metallopeptidase Domain 17	Protein Coding	2
552	DISP2	Dispatched RND Transporter Family Member 2	Protein Coding	2
553	AZIN2	Antizyme Inhibitor 2	Protein Coding	2
554	NQO1	NAD(P)H Quinone Dehydrogenase 1	Protein Coding	2
555	OAZ1	Ornithine Decarboxylase Antizyme 1	Protein Coding	2
556	OAZ2	Ornithine Decarboxylase Antizyme 2	Protein Coding	2
557	AZIN1	Antizyme Inhibitor 1	Protein Coding	2
558	OAZ3	Ornithine Decarboxylase Antizyme 3	Protein Coding	2
559	SMS	Spermine Synthase	Protein Coding	2
560	SRM	Spermidine Synthase	Protein Coding	2
561	ARHGAP10	Rho GTPase Activating Protein 10	Protein Coding	2
562	NAMPT	Nicotinamide Phosphoribosyltransferase	Protein Coding	1
563	LOC102724428	Salt Inducible Kinase 1B (Putative)	Protein Coding	1
564	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	1
565	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	1
566	RAI1	Retinoic Acid Induced 1	Protein Coding	1
567	CPT1A	Carnitine Palmitoyltransferase 1A	Protein Coding	1
568	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	1
569	ATF2	Activating Transcription Factor 2	Protein Coding	1
570	CREM	CAMP Responsive Element Modulator	Protein Coding	1
571	SIK1	Salt Inducible Kinase 1	Protein Coding	1
572	DBP	D-Box Binding PAR BZIP Transcription Factor	Protein Coding	1
573	CRTC2	CREB Regulated Transcription Coactivator 2	Protein Coding	1
574	F7	Coagulation Factor VII	Protein Coding	1
575	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	1
576	CRTC1	CREB Regulated Transcription Coactivator 1	Protein Coding	1
577	SIRT1	Sirtuin 1	Protein Coding	1
578	NOCT	Nocturnin	Protein Coding	1
579	KLF15	KLF Transcription Factor 15	Protein Coding	1
580	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	1
581	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	1
582	SERPINE1	Serpin Family E Member 1	Protein Coding	1
583	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	1
584	MED1	Mediator Complex Subunit 1	Protein Coding	1
585	AVP	Arginine Vasopressin	Protein Coding	1
586	BMAL2	Basic Helix-Loop-Helix ARNT Like 2	Protein Coding	1
587	RBM4	RNA Binding Motif Protein 4	Protein Coding	1
588	RORB	RAR Related Orphan Receptor B	Protein Coding	1
589	RXRA	Retinoid X Receptor Alpha	Protein Coding	1
590	CRTC3	CREB Regulated Transcription Coactivator 3	Protein Coding	1
591	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	1
592	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	1
593	TFEB	Transcription Factor EB	Protein Coding	1
594	TBL1XR1	TBL1X/Y Related 1	Protein Coding	1
595	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	1
596	NRIP1	Nuclear Receptor Interacting Protein 1	Protein Coding	1
597	HELZ2	Helicase With Zinc Finger 2	Protein Coding	1
598	CIPC	CLOCK Interacting Pacemaker	Protein Coding	1
599	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	1
600	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	1
601	TGS1	Trimethylguanosine Synthase 1	Protein Coding	1
602	HDAC6	Histone Deacetylase 6	Protein Coding	1
603	RBM14-RBM4	RBM14-RBM4 Readthrough	Protein Coding	1
604	RBM14	RNA Binding Motif Protein 14	Protein Coding	1
605	TWIST2	Twist Family BHLH Transcription Factor 2	Protein Coding	1
606	SP7	Sp7 Transcription Factor	Protein Coding	1
607	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
608	UCMA	Upper Zone Of Growth Plate And Cartilage Matrix Associated	Protein Coding	1
609	SATB2	SATB Homeobox 2	Protein Coding	1
610	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
611	ZNF521	Zinc Finger Protein 521	Protein Coding	1
612	AR	Androgen Receptor	Protein Coding	1
613	LGALS3	Galectin 3	Protein Coding	1
614	SMAD1	SMAD Family Member 1	Protein Coding	1
615	SMAD6	SMAD Family Member 6	Protein Coding	1
616	MAF	MAF BZIP Transcription Factor	Protein Coding	1
617	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	1
618	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	1
619	BGLAP	Bone Gamma-Carboxyglutamate Protein	Protein Coding	1
620	SOX9	SRY-Box Transcription Factor 9	Protein Coding	1
621	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	1
622	PPM1D	Protein Phosphatase, Mg2+/Mn2+ Dependent 1D	Protein Coding	1
623	HAND2	Heart And Neural Crest Derivatives Expressed 2	Protein Coding	1
624	ABCC5	ATP Binding Cassette Subfamily C Member 5	Protein Coding	1
625	ABCC4	ATP Binding Cassette Subfamily C Member 4 (PEL Blood Group)	Protein Coding	1
626	ABCA8	ATP Binding Cassette Subfamily A Member 8	Protein Coding	1
627	EIF2S1	Eukaryotic Translation Initiation Factor 2 Subunit Alpha	Protein Coding	1
628	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	1
629	ABCF1	ATP Binding Cassette Subfamily F Member 1	Protein Coding	1
630	ABCB9	ATP Binding Cassette Subfamily B Member 9	Protein Coding	1
631	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	1
632	ABCB5	ATP Binding Cassette Subfamily B Member 5	Protein Coding	1
633	ABCC1	ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)	Protein Coding	1
634	ABCB1	ATP Binding Cassette Subfamily B Member 1	Protein Coding	1
635	ABCC11	ATP Binding Cassette Subfamily C Member 11	Protein Coding	1
636	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	1
637	EIF2S2	Eukaryotic Translation Initiation Factor 2 Subunit Beta	Protein Coding	1
638	ABCC10	ATP Binding Cassette Subfamily C Member 10	Protein Coding	1
639	MCRS1	Microspherule Protein 1	Protein Coding	1
640	MBD6	Methyl-CpG Binding Domain Protein 6	Protein Coding	1
641	SENP8	SUMO Peptidase Family Member, NEDD8 Specific	Protein Coding	1
642	INO80C	INO80 Complex Subunit C	Protein Coding	1
643	ASXL1	ASXL Transcriptional Regulator 1	Protein Coding	1
644	H2AC1	H2A Clustered Histone 1	Protein Coding	1
645	KDM1B	Lysine Demethylase 1B	Protein Coding	1
646	FOXK1	Forkhead Box K1	Protein Coding	1
647	INO80E	INO80 Complex Subunit E	Protein Coding	1
648	TFPT	TCF3 Fusion Partner	Protein Coding	1
649	H2AC8	H2A Clustered Histone 8	Protein Coding	1
650	H2AC7	H2A Clustered Histone 7	Protein Coding	1
651	HCFC1	Host Cell Factor C1	Protein Coding	1
652	H2AC21	H2A Clustered Histone 21	Protein Coding	1
653	FOXK2	Forkhead Box K2	Protein Coding	1
654	SMAD7	SMAD Family Member 7	Protein Coding	1
655	NEDD8	NEDD8 Ubiquitin Like Modifier	Protein Coding	1
656	NFRKB	Nuclear Factor Related To KappaB Binding Protein	Protein Coding	1
657	UCHL5	Ubiquitin C-Terminal Hydrolase L5	Protein Coding	1
658	INO80	INO80 Complex ATPase Subunit	Protein Coding	1
659	INO80D	INO80 Complex Subunit D	Protein Coding	1
660	ASXL2	ASXL Transcriptional Regulator 2	Protein Coding	1
661	MBD5	Methyl-CpG Binding Domain Protein 5	Protein Coding	1
662	BARD1	BRCA1 Associated RING Domain 1	Protein Coding	1
663	ACTB	Actin Beta	Protein Coding	1
664	TGFBR1	Transforming Growth Factor Beta Receptor 1	Protein Coding	1
665	TGFBR2	Transforming Growth Factor Beta Receptor 2	Protein Coding	1
666	H2AC19	H2A Clustered Histone 19	Protein Coding	1
667	YY1	YY1 Transcription Factor	Protein Coding	1
668	ACTR5	Actin Related Protein 5	Protein Coding	1
669	BAP1	BRCA1 Associated Deubiquitinase 1	Protein Coding	1
670	H2AC13	H2A Clustered Histone 13	Protein Coding	1
671	H2AC15	H2A Clustered Histone 15	Protein Coding	1
672	H2AC14	H2A Clustered Histone 14	Protein Coding	1
673	H2AC16	H2A Clustered Histone 16	Protein Coding	1
674	H2AC6	H2A Clustered Histone 6	Protein Coding	1
675	H2AC17	H2A Clustered Histone 17	Protein Coding	1
676	H2AC18	H2A Clustered Histone 18	Protein Coding	1
677	H2AC20	H2A Clustered Histone 20	Protein Coding	1
678	INO80B	INO80 Complex Subunit B	Protein Coding	1
679	H2AC12	H2A Clustered Histone 12	Protein Coding	1
680	ACTL6A	Actin Like 6A	Protein Coding	1
681	RUVBL1	RuvB Like AAA ATPase 1	Protein Coding	1
682	H2AC11	H2A Clustered Histone 11	Protein Coding	1
683	H2AC25	H2A Clustered Histone 25	Protein Coding	1
684	ACTR8	Actin Related Protein 8	Protein Coding	1
685	USP15	Ubiquitin Specific Peptidase 15	Protein Coding	1
686	EDAR	Ectodysplasin A Receptor	Protein Coding	1
687	EDARADD	EDAR Associated Via Death Domain	Protein Coding	1
688	EDA	Ectodysplasin A	Protein Coding	1
689	TNFRSF13B	TNF Receptor Superfamily Member 13B	Protein Coding	1
690	FASLG	Fas Ligand	Protein Coding	1
691	TNFRSF9	TNF Receptor Superfamily Member 9	Protein Coding	1
692	TNFRSF11B	TNF Receptor Superfamily Member 11b	Protein Coding	1
693	EDA2R	Ectodysplasin A2 Receptor	Protein Coding	1
694	TNFRSF17	TNF Receptor Superfamily Member 17	Protein Coding	1
695	TNFRSF1B	TNF Receptor Superfamily Member 1B	Protein Coding	1
696	TNFSF4	TNF Superfamily Member 4	Protein Coding	1
697	TNFRSF4	TNF Receptor Superfamily Member 4	Protein Coding	1
698	TNFRSF25	TNF Receptor Superfamily Member 25	Protein Coding	1
699	TNFSF9	TNF Superfamily Member 9	Protein Coding	1
700	TNFRSF14	TNF Receptor Superfamily Member 14	Protein Coding	1
701	TNFRSF6B	TNF Receptor Superfamily Member 6b	Protein Coding	1
702	TNFRSF18	TNF Receptor Superfamily Member 18	Protein Coding	1
703	TNFSF18	TNF Superfamily Member 18	Protein Coding	1
704	CD27	CD27 Molecule	Protein Coding	1
705	TNFRSF8	TNF Receptor Superfamily Member 8	Protein Coding	1
706	TNFSF8	TNF Superfamily Member 8	Protein Coding	1
707	CD70	CD70 Molecule	Protein Coding	1
708	TNFSF15	TNF Superfamily Member 15	Protein Coding	1
709	CDC42EP2	CDC42 Effector Protein 2	Protein Coding	1
710	CDC42EP3	CDC42 Effector Protein 3	Protein Coding	1
711	IGF2BP1	Insulin Like Growth Factor 2 MRNA Binding Protein 1	Protein Coding	1
712	CDC42EP5	CDC42 Effector Protein 5	Protein Coding	1
713	ETV4	ETS Variant Transcription Factor 4	Protein Coding	1
714	FOXO1	Forkhead Box O1	Protein Coding	1
715	DNAJB1	DnaJ Heat Shock Protein Family (Hsp40) Member B1	Protein Coding	1
716	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	1
717	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
718	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
719	MAPK4	Mitogen-Activated Protein Kinase 4	Protein Coding	1
720	MAPK6	Mitogen-Activated Protein Kinase 6	Protein Coding	1
721	RAG1	Recombination Activating 1	Protein Coding	1
722	RAG2	Recombination Activating 2	Protein Coding	1
723	NCOA3	Nuclear Receptor Coactivator 3	Protein Coding	1
724	MAPKAPK5	MAPK Activated Protein Kinase 5	Protein Coding	1
725	CDC14B	Cell Division Cycle 14B	Protein Coding	1
726	CDC14A	Cell Division Cycle 14A	Protein Coding	1
727	CCND3	Cyclin D3	Protein Coding	1
728	KALRN	Kalirin RhoGEF Kinase	Protein Coding	1
729	SEPTIN7	Septin 7	Protein Coding	1
730	CDC42	Cell Division Cycle 42	Protein Coding	1
731	CDC25B	Cell Division Cycle 25B	Protein Coding	1
732	B2M	Beta-2-Microglobulin	Protein Coding	1
733	CALR	Calreticulin	Protein Coding	1
734	CANX	Calnexin	Protein Coding	1
735	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	1
736	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	1
737	CD3G	CD3 Gamma Subunit Of T-Cell Receptor Complex	Protein Coding	1
738	CD247	CD247 Molecule	Protein Coding	1
739	CD8A	CD8 Subunit Alpha	Protein Coding	1
740	CD8B	CD8 Subunit Beta	Protein Coding	1
741	PDIA3	Protein Disulfide Isomerase Family A Member 3	Protein Coding	1
742	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	1
743	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	1
744	TAPBP	TAP Binding Protein	Protein Coding	1
745	TRA	T Cell Receptor Alpha Locus	Protein Coding	1
746	TRB	T Cell Receptor Beta Locus	Protein Coding	1
747	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	1
748	TRAP1	TNF Receptor Associated Protein 1	Protein Coding	1
749	SEC61B	SEC61 Translocon Subunit Beta	Protein Coding	1
750	SEC61G	SEC61 Translocon Subunit Gamma	Protein Coding	1
751	TRBV17	T Cell Receptor Beta Variable 17 (Non-Functional)	Protein Coding	1
752	TRBV11-3	T Cell Receptor Beta Variable 11-3	Protein Coding	1
753	TRBV11-2	T Cell Receptor Beta Variable 11-2	Protein Coding	1
754	TRBV11-1	T Cell Receptor Beta Variable 11-1	Protein Coding	1
755	TRAV24	T Cell Receptor Alpha Variable 24	Protein Coding	1
756	TRAJ18	T Cell Receptor Alpha Joining 18	Protein Coding	1
757	TRAC	T Cell Receptor Alpha Constant	Protein Coding	1
758	SEC61A1	SEC61 Translocon Subunit Alpha 1	Protein Coding	1
759	SEC61A2	SEC61 Translocon Subunit Alpha 2	Protein Coding	1
760	FRAT1	FRAT Regulator Of Wnt Signaling Pathway 1	Protein Coding	1
761	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	1
762	FRAT2	FRAT Regulator Of Wnt Signaling Pathway 2	Protein Coding	1
763	APC	APC Regulator Of Wnt Signaling Pathway	Protein Coding	1
764	ZRANB1	Zinc Finger RANBP2-Type Containing 1	Protein Coding	1
765	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
766	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
767	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
768	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
769	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
770	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
771	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
772	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
773	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
774	MAPRE1	Microtubule Associated Protein RP/EB Family Member 1	Protein Coding	1
775	TUBB8B	Tubulin Beta 8B	Protein Coding	1
776	GTSE1	G2 And S-Phase Expressed 1	Protein Coding	1
777	PLK1	Polo Like Kinase 1	Protein Coding	1
778	FKBPL	FKBP Prolyl Isomerase Like	Protein Coding	1
779	CCNB2	Cyclin B2	Protein Coding	1
780	ATXN10	Ataxin 10	Protein Coding	1
781	EPRS1	Glutamyl-Prolyl-TRNA Synthetase 1	Protein Coding	1
782	ATXN3	Ataxin 3	Protein Coding	1
783	PARK7	Parkinsonism Associated Deglycase	Protein Coding	1
784	PINK1	PTEN Induced Kinase 1	Protein Coding	1
785	ATXN1	Ataxin 1	Protein Coding	1
786	ATXN2	Ataxin 2	Protein Coding	1
787	ATXN7	Ataxin 7	Protein Coding	1
788	SLC6A3	Solute Carrier Family 6 Member 3	Protein Coding	1
789	SYT11	Synaptotagmin 11	Protein Coding	1
790	TUBE1	Tubulin Epsilon 1	Protein Coding	1
791	TUBG1	Tubulin Gamma 1	Protein Coding	1
792	TUBG2	Tubulin Gamma 2	Protein Coding	1
793	TUBGCP2	Tubulin Gamma Complex Component 2	Protein Coding	1
794	TUBGCP3	Tubulin Gamma Complex Component 3	Protein Coding	1
795	TUBGCP5	Tubulin Gamma Complex Component 5	Protein Coding	1
796	TUBGCP6	Tubulin Gamma Complex Component 6	Protein Coding	1
797	UBD	Ubiquitin Like Modifier D	Protein Coding	1
798	ABCA1	ATP Binding Cassette Subfamily A Member 1	Protein Coding	1
799	LMBRD1	LMBR1 Domain Containing 1	Protein Coding	1
800	ABCD4	ATP Binding Cassette Subfamily D Member 4	Protein Coding	1
801	ABCC8	ATP Binding Cassette Subfamily C Member 8	Protein Coding	1
802	ABCB11	ATP Binding Cassette Subfamily B Member 11	Protein Coding	1
803	RPN1	Ribophorin I	Protein Coding	1
804	UBA7	Ubiquitin Like Modifier Activating Enzyme 7	Protein Coding	1
805	RPN2	Ribophorin II	Protein Coding	1
806	IFNG	Interferon Gamma	Protein Coding	1
807	HLA-G	Major Histocompatibility Complex, Class I, G	Protein Coding	1
808	HLA-E	Major Histocompatibility Complex, Class I, E	Protein Coding	1
809	H2AX	H2A.X Variant Histone	Protein Coding	1
810	UBE2B	Ubiquitin Conjugating Enzyme E2 B	Protein Coding	1
811	HLA-J	Major Histocompatibility Complex, Class I, J (Pseudogene)	Pseudogene	1
812	HLA-H	Major Histocompatibility Complex, Class I, H (Pseudogene)	Pseudogene	1
813	HLA-F	Major Histocompatibility Complex, Class I, F	Protein Coding	1
814	H2AZ1	H2A.Z Variant Histone 1	Protein Coding	1
815	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1
816	TAB1	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 1	Protein Coding	1
817	RASGRP4	RAS Guanyl Releasing Protein 4	Protein Coding	1
818	FCER1A	Fc Epsilon Receptor Ia	Protein Coding	1
819	MS4A2	Membrane Spanning 4-Domains A2	Protein Coding	1
820	FCER1G	Fc Epsilon Receptor Ig	Protein Coding	1
821	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1
822	TAB3	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 3	Protein Coding	1
823	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
824	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	1
825	UBE2N	Ubiquitin Conjugating Enzyme E2 N	Protein Coding	1
826	UBE2V1	Ubiquitin Conjugating Enzyme E2 V1	Protein Coding	1
827	CDC34	Cell Division Cycle 34, Ubiquitin Conjugating Enzyme	Protein Coding	1
828	HIF1AN	Hypoxia Inducible Factor 1 Subunit Alpha Inhibitor	Protein Coding	1
829	RASA4	RAS P21 Protein Activator 4	Protein Coding	1
830	DAB2IP	DAB2 Interacting Protein	Protein Coding	1
831	RASA3	RAS P21 Protein Activator 3	Protein Coding	1
832	RASA1	RAS P21 Protein Activator 1	Protein Coding	1
833	RASA2	RAS P21 Protein Activator 2	Protein Coding	1
834	RASAL3	RAS Protein Activator Like 3	Protein Coding	1
835	KBTBD7	Kelch Repeat And BTB Domain Containing 7	Protein Coding	1
836	RASAL1	RAS Protein Activator Like 1	Protein Coding	1
837	SYNGAP1	Synaptic Ras GTPase Activating Protein 1	Protein Coding	1
838	RASAL2	RAS Protein Activator Like 2	Protein Coding	1
839	WWP2	WW Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	1
840	OTUD3	OTU Deubiquitinase 3	Protein Coding	1
841	MKRN1	Makorin Ring Finger Protein 1	Protein Coding	1
842	FRK	Fyn Related Src Family Tyrosine Kinase	Protein Coding	1
843	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
844	TRIM27	Tripartite Motif Containing 27	Protein Coding	1
845	PREX2	Phosphatidylinositol-3,4,5-Trisphosphate Dependent Rac Exchange Factor 2	Protein Coding	1
846	USP13	Ubiquitin Specific Peptidase 13	Protein Coding	1
847	PSMB11	Proteasome Subunit Beta 11	Protein Coding	1
848	PSME4	Proteasome Activator Subunit 4	Protein Coding	1
849	PSMG4	Proteasome Assembly Chaperone 4	Protein Coding	1
850	POMP	Proteasome Maturation Protein	Protein Coding	1
851	PSMG2	Proteasome Assembly Chaperone 2	Protein Coding	1
852	PAAF1	Proteasomal ATPase Associated Factor 1	Protein Coding	1
853	PSMG3	Proteasome Assembly Chaperone 3	Protein Coding	1
854	PSMG1	Proteasome Assembly Chaperone 1	Protein Coding	1
855	PSMF1	Proteasome Inhibitor Subunit 1	Protein Coding	1
856	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	1
857	AMFR	Autocrine Motility Factor Receptor	Protein Coding	1
858	CASP2	Caspase 2	Protein Coding	1
859	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	1
860	INSIG1	Insulin Induced Gene 1	Protein Coding	1
861	KPNB1	Karyopherin Subunit Beta 1	Protein Coding	1
862	IPO5	Importin 5	Protein Coding	1
863	LDLR	Low Density Lipoprotein Receptor	Protein Coding	1
864	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	1
865	MBTPS2	Membrane Bound Transcription Factor Peptidase, Site 2	Protein Coding	1
866	SAR1A	Secretion Associated Ras Related GTPase 1A	Protein Coding	1
867	SCAP	SREBF Chaperone	Protein Coding	1
868	SEC23A	SEC23 Homolog A, COPII Component	Protein Coding	1
869	SEC23B	SEC23 Homolog B, COPII Component	Protein Coding	1
870	SEC24A	SEC24 Homolog A, COPII Component	Protein Coding	1
871	SEC24B	SEC24 Homolog B, COPII Component	Protein Coding	1
872	SEC24C	SEC24 Homolog C, COPII Component	Protein Coding	1
873	SEC24D	SEC24 Homolog D, COPII Component	Protein Coding	1
874	SREBF2	Sterol Regulatory Element Binding Transcription Factor 2	Protein Coding	1
875	GLI1	GLI Family Zinc Finger 1	Protein Coding	1
876	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	1
877	NUMB	NUMB Endocytic Adaptor Protein	Protein Coding	1
878	AMD1	Adenosylmethionine Decarboxylase 1	Protein Coding	1
879	AGMAT	Agmatinase (Putative)	Protein Coding	1
880	HECW1	HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	1
881	DACT1	Dishevelled Binding Antagonist Of Beta Catenin 1	Protein Coding	1
882	KLHL12	Kelch Like Family Member 12	Protein Coding	1
883	FBXO5	F-Box Protein 5	Protein Coding	1
884	CDC20	Cell Division Cycle 20	Protein Coding	1
885	AXIN2	Axin 2	Protein Coding	1
886	NFE2L2	NFE2 Like BZIP Transcription Factor 2	Protein Coding	1
887	FBXL7	F-Box And Leucine Rich Repeat Protein 7	Protein Coding	1
888	AURKA	Aurora Kinase A	Protein Coding	1
889	FBXL18	F-Box And Leucine Rich Repeat Protein 18	Protein Coding	1
890	FCGR1A	Fc Gamma Receptor Ia	Protein Coding	1
891	MRC1	Mannose Receptor C-Type 1	Protein Coding	1
892	CD207	CD207 Molecule	Protein Coding	1
893	MRC2	Mannose Receptor C-Type 2	Protein Coding	1
894	APOBEC3G	Apolipoprotein B MRNA Editing Enzyme Catalytic Subunit 3G	Protein Coding	1
895	CUL5	Cullin 5	Protein Coding	1
896	OMA1	OMA1 Zinc Metallopeptidase	Protein Coding	1
897	OPA1	OPA1 Mitochondrial Dynamin Like GTPase	Protein Coding	1
898	CD4	CD4 Molecule	Protein Coding	1

Disorders associated with Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Cystic fibrosis	Direct
2	Holoprosencephaly	Direct
3	46,xy complete gonadal dysgenesis	Direct
4	Human immunodeficiency virus infectious disease	Direct
5	Neurofibromatosis	Direct
6	Autosomal recessive congenital ichthyosis	Direct
7	Microphthalmia	Direct
8	Autosomal non-syndromic agammaglobulinemia	Enrichment	BLNK, CD79A, CD79B, PIK3CD, PIK3R1	10.91
9	Robinow syndrome, autosomal recessive 1	Enrichment	DVL1, DVL3, FZD2, ROR2, WNT5A	10.42
10	Autosomal recessive robinow syndrome	Enrichment	DVL1, DVL3, FZD2, ROR2, WNT5A	10.29
11	Advanced sleep phase syndrome	Enrichment	CSNK1D, PER2, PER3	9.28
12	Immunodeficiency by defective expression of mhc class i	Enrichment	B2M, TAP1, TAP2, TAPBP	9.08
13	Robinow syndrome, autosomal dominant 1	Enrichment	DVL1, DVL3, FZD2, WNT5A	8.96
14	Autosomal dominant robinow syndrome	Enrichment	DVL1, DVL3, FZD2, WNT5A	8.96
15	Li-fraumeni syndrome	Enrichment	CDKN2A, CHEK2, MDM2, TP53	8.84
16	Early-onset parkinson's disease	Enrichment	PARK7, PINK1, PRKN, SNCA, UCHL1	8.77
17	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	7.65
18	Noonan syndrome 1	Enrichment	HRAS, KRAS, NRAS, RASA2, SPRED2	7.54
19	Pontocerebellar hypoplasia, type 1e	Enrichment	EXOSC3, EXOSC8, EXOSC9	7.49
20	Gallbladder cancer	Enrichment	CTNNB1, KRAS, SMAD4, TP53	7.28
21	Lissencephaly	Enrichment	TUBA1A, TUBA3E, TUBB, TUBB2B, TUBB3	7.13
22	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	6.96
23	T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	Enrichment	CD247, CD3D, CD3E	6.81
24	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	6.60
25	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, NRAS, SPRED1	6.50
26	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	6.36
27	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	ACTA2, HEY2, NOTCH1, SMAD3	6.35
28	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3	6.17
29	Bladder cancer	Enrichment	CDKN1A, CDKN2A, CTNNB1, KRAS, TP53	6.02
30	Pancreatic cancer	Enrichment	ATM, CDKN2A, CHEK2, TP53	5.94
31	Myeloma, multiple	Enrichment	CCND1, CREBBP, HDAC4, KRAS, TP53, YAP1	5.86
32	Gallbladder disease 4	Enrichment	ABCG5, ABCG8	5.78
33	Alzheimer disease 4	Enrichment	PSEN1, PSEN2	5.75
34	Autosomal dominant secondary polycythemia	Enrichment	EGLN1, EPAS1, EPO	5.74
35	Malignant epithelioid hemangioendothelioma	Enrichment	WWTR1, YAP1	5.74
36	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4, PSMB9	5.73
37	Robinow syndrome, autosomal dominant 2	Enrichment	DVL1, DVL3, FZD2	5.72
38	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	5.66
39	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS	5.66
40	Ellis-van creveld syndrome	Enrichment	GLI1, PRKACA, PRKACB	5.49
41	Rasopathy	Enrichment	HRAS, KRAS, NF1, NRAS	5.47
42	Isolated split hand-split foot malformation	Enrichment	DLX5, DLX6, SEM1	5.37
43	Parkinson disease, late-onset	Enrichment	ATXN2, ATXN3, PRKN, SNCA	5.32
44	Adrenocortical carcinoma	Enrichment	CDKN2A, CTNNB1, TP53	5.31
45	Adams-oliver syndrome	Enrichment	DLL4, NOTCH1, RBPJ	5.31
46	Sitosterolemia 1	Enrichment	ABCG5, ABCG8	5.30
47	Sitosterolemia	Enrichment	ABCG5, ABCG8	5.30
48	Stormorken syndrome	Enrichment	ORAI1, STIM1	5.27
49	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4, PSMB8	5.25
50	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4, PSMB8	5.25
51	Keratoacanthoma	Enrichment	NOTCH1, NOTCH2	5.21
52	Rare genetic intellectual disability	Enrichment	CREBBP, KMT2A	5.16
53	Tetralogy of fallot	Enrichment	FLT4, HEY2, NOTCH1	5.16
54	Leukemia, chronic myeloid	Enrichment	KRAS, RUNX1	5.09
55	Common variable immunodeficiency	Enrichment	CD40LG, NFKB2, TNFRSF13B	5.07
56	Coronary heart disease 5	Enrichment	ABCA1, ABCG5, ABCG8	5.06
57	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	5.05
58	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	5.05
59	Tooth agenesis	Enrichment	EDA, EDA2R, EDAR, EDARADD	5.00
60	Lung non-small cell carcinoma	Enrichment	HRAS, KRAS, NRAS	4.99
61	Li-fraumeni syndrome 1	Enrichment	CHEK2, TP53	4.99
62	Sarcoma	Enrichment	CHEK2, TP53	4.99
63	Gastric cancer	Enrichment	ATM, CDKN2A, CHEK2, TP53	4.97
64	Noonan syndrome 3	Enrichment	HRAS, KRAS, SOS1	4.93
65	Early-onset autosomal dominant alzheimer disease	Enrichment	PSEN1, PSEN2	4.90
66	Connective tissue disease	Enrichment	ACTA2, NOTCH1, SMAD3	4.88
67	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NF1, NRAS	4.87
68	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	4.86
69	Erythrocytosis, familial, 3	Enrichment	EGLN1, EPAS1	4.82
70	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	4.79
71	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	4.79
72	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	4.79
73	Colorectal cancer	Enrichment	CCND1, CTNNB1, EP300, SMAD4, SRC, TP53	4.74
74	Severe cutaneous adverse reaction	Enrichment	HLA-A, HLA-B	4.66
75	Cholestasis, progressive familial intrahepatic, 3	Enrichment	ABCB11, ABCB4	4.65
76	Cholestasis, intrahepatic, of pregnancy 3	Enrichment	ABCB11, ABCB4	4.65
77	Intrahepatic cholestasis	Enrichment	ABCB11, ABCB4	4.65
78	Adenocarcinoma	Enrichment	ATM, TP53	4.62
79	Lipid metabolism disorder	Enrichment	ABCG5, ABCG8	4.60
80	Osteopathia striata with cranial sclerosis	Enrichment	AMER1, CTNNB1	4.58
81	Severe combined immunodeficiency	Enrichment	CD247, CD3D, CD3E, CD3G	4.53
82	Osteogenic sarcoma	Enrichment	CHEK2, TP53	4.51
83	Bone osteosarcoma	Enrichment	CHEK2, TP53	4.51
84	Fibrolamellar carcinoma	Enrichment	DNAJB1, PRKACA	4.51
85	Robinow syndrome, autosomal dominant 3	Enrichment	DVL3, FZD2	4.48
86	Paget disease of bone 5, juvenile-onset	Enrichment	TNFRSF11A, TNFRSF11B	4.40
87	Ectodermal dysplasia 1, hypohidrotic, x-linked	Enrichment	EDA, EDA2R	4.40
88	Loeys-dietz syndrome 2	Enrichment	TGFBR1, TGFBR2	4.39
89	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	MBTPS2, SREBF1	4.37
90	Ovarian cancer	Enrichment	ATM, CDKN1B, CDKN2A, CHEK2, TP53	4.35
91	Homozygous familial hypercholesterolemia	Enrichment	ABCG5, ABCG8	4.33
92	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	4.32
93	Craniosynostosis 7	Enrichment	BMP2, SMAD6	4.22
94	Hypoalphalipoproteinemia, primary, 2	Enrichment	ABCA1, APOA1	4.17
95	Dend syndrome	Enrichment	ABCC8, KCNJ11	4.17
96	Knobloch syndrome 2	Enrichment	PAK2	4.13
97	Bachmann-bupp syndrome	Enrichment	ODC1	4.13
98	Precursor t-cell acute lymphoblastic leukemia	Enrichment	NUP214, SET	4.12
99	Desmoid disease, hereditary	Enrichment	APC, CTNNB1	4.11
100	Desmoid tumor	Enrichment	APC, CTNNB1	4.11
101	Immunodeficiency 7	Enrichment	TRA, TRAC	4.06
102	Prostate cancer	Enrichment	TP53, ZFHX3	4.04
103	Combined cellular and humoral immune defects with granulomas	Enrichment	RAG1, RAG2	4.03
104	Parkinson's disease	Enrichment	ATXN2, ATXN3, PRKN	4.02
105	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	4.02
106	Pilocytic astrocytoma	Enrichment	KRAS, NF1	4.02
107	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	EDAR, EDARADD	3.93
108	Loeys-dietz syndrome 1	Enrichment	TGFBR1, TGFBR2	3.92
109	Neonatal adrenoleukodystrophy	Enrichment	PEX19, PEX3	3.89
110	Hypoalphalipoproteinemia, primary, 1	Enrichment	ABCA1, APOA1	3.87
111	Neonatal diabetes mellitus	Enrichment	ABCC8, KCNJ11	3.87
112	Intrahepatic cholestasis of pregnancy	Enrichment	ABCB11, ABCB4	3.87
113	Agammaglobulinemia 3, autosomal recessive	Enrichment	CD79A	3.83
114	Agammaglobulinemia 3	Enrichment	CD79A	3.83
115	Myopathy, tubular aggregate, 1	Enrichment	ORAI1, STIM1	3.82
116	Craniopharyngioma	Enrichment	APC, CTNNB1	3.81
117	Inherited cancer-predisposing syndrome	Enrichment	ATM, CDKN1B, CDKN2A, CHEK2, TP53	3.80
118	Hemimegalencephaly	Enrichment	AKT3, PTEN	3.80
119	Peroxisome biogenesis disorder 1b	Enrichment	PEX19, PEX3	3.76
120	Zellweger syndrome	Enrichment	PEX19, PEX3	3.76
121	Mhc class i deficiency 1	Enrichment	TAP1, TAP2	3.76
122	Mhc class i deficiency	Enrichment	TAP1, TAP2	3.76
123	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1, SMAD3	3.73
124	Hepatocellular carcinoma	Enrichment	APC, AXIN1, CTNNB1	3.72
125	Exudative vitreoretinopathy 1	Enrichment	CTNNB1, FZD4	3.69
126	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	CDKN2A, TP53	3.67
127	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	3.67
128	Osteogenesis imperfecta, type i	Enrichment	MBTPS2, SEC24D	3.67
129	Complex neurodevelopmental disorder	Enrichment	AGO1, AGO2, GNB2, PSMD12, RAC3, TCF7L2, TNRC6B	3.67
130	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1, VHL	3.65
131	Pontocerebellar hypoplasia	Enrichment	EXOSC3, EXOSC9	3.65
132	Transient neonatal diabetes mellitus	Enrichment	ABCC8, KCNJ11	3.65
133	Hypoglycemia	Enrichment	ABCC8, KCNJ11	3.65
134	Lung sarcomatoid carcinoma	Enrichment	KRAS, TP53	3.63
135	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	EDA, EDAR	3.63
136	Immunodeficiency, common variable, 1	Enrichment	NFKB2, TNFRSF13B	3.63
137	Ectodermal dysplasia	Enrichment	EDA, EDAR	3.63
138	Long qt syndrome	Enrichment	CALM1, CALM2	3.56
139	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B	3.56
140	Agammaglobulinemia 6, autosomal recessive	Enrichment	CD79B	3.53
141	Agammaglobulinemia 6	Enrichment	CD79B	3.53
142	Cleidocranial dysplasia 2	Enrichment	CBFB	3.53
143	Spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia	Enrichment	ABCB7	3.53
144	Dyschromatosis universalis hereditaria 3	Enrichment	ABCB6	3.53
145	Blood group, langereis system	Enrichment	ABCB6	3.53
146	Microphthalmia/coloboma 7	Enrichment	ABCB6	3.53
147	Dyschromatosis universalis hereditaria	Enrichment	ABCB6	3.53
148	Pseudohyperkalemia, familial, 2, due to red cell leak	Enrichment	ABCB6	3.53
149	X-linked sideroblastic anemia with ataxia	Enrichment	ABCB7	3.53
150	Intellectual developmental disorder, x-linked, syndromic, snyder-robinson type	Enrichment	SMS	3.53
151	Syndromic x-linked intellectual disability snyder type	Enrichment	SMS	3.53
152	Menke-hennekam syndrome 1	Enrichment	CREBBP	3.53
153	Acute myeloid leukemia with mll rearrangement	Enrichment	KMT2A	3.53
154	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	3.53
155	Menke-hennekam syndrome	Enrichment	CREBBP	3.53
156	Knobloch syndrome	Enrichment	PAK2	3.53
157	Leukemia, acute myeloid	Enrichment	KRAS, RUNX1	3.52
158	Hepatoblastoma	Enrichment	CTNNB1, JAG1, TP53	3.52
159	Severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative	Enrichment	RAG1, RAG2	3.51
160	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A, VHL	3.51
161	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS	3.48
162	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, RASA1	3.48
163	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS	3.48
164	Parkinson disease 6, autosomal recessive early-onset	Enrichment	PARK7, PINK1	3.48
165	Hyperinsulinemic hypoglycemia, familial, 1	Enrichment	ABCC8, KCNJ11	3.48
166	Pseudoxanthoma elasticum	Enrichment	ABCC2, ABCC6	3.48
167	Patent ductus arteriosus	Enrichment	ABCC9, PSMC3	3.48
168	Nonsyndromic genetic hyperinsulinism	Enrichment	ABCC8, KCNJ11	3.48
169	Myocardial infarction	Enrichment	LTA, PSMA6, TNFSF4	3.46
170	Leukemia, chronic lymphocytic	Enrichment	ATM, TP53	3.45
171	Colonic benign neoplasm	Enrichment	ATM, CHEK2	3.44
172	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	3.43
173	Vegetative pyoderma gangrenosum	Enrichment	PTPN6	3.43
174	Bullous pyoderma gangrenosum	Enrichment	PTPN6	3.43
175	Pustular pyoderma gangrenosum	Enrichment	PTPN6	3.43
176	Classic pyoderma gangrenosum	Enrichment	PTPN6	3.43
177	Heritable thoracic aortic disease	Enrichment	SMAD4	3.43
178	Lissencephaly 7 with cerebellar hypoplasia	Enrichment	CDK5	3.43
179	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	3.43
180	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	3.43
181	Knobloch syndrome 1	Enrichment	PAK2	3.43
182	Hereditary breast carcinoma	Enrichment	ATM, CHEK2, TP53	3.42
183	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	EDAR, EDARADD	3.41
184	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	EDAR, EDARADD	3.41
185	Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome	Enrichment	CTBP1	3.35
186	Keratosis follicularis spinulosa decalvans	Enrichment	SAT1	3.35
187	Immunodeficiency 42	Enrichment	RORC	3.35
188	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS	3.35
189	Lynch syndrome 1	Enrichment	ATM, CHEK2	3.34
190	Melanoma	Enrichment	CDKN2A, CHEK2	3.34
191	Progressive familial intrahepatic cholestasis	Enrichment	ABCB11, ABCB4	3.33
192	Craniosynostosis	Enrichment	GLI2, GLI3, SMAD6	3.32
193	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	3.32
194	Bone marrow failure syndrome 5	Enrichment	TP53	3.29
195	Papilloma of choroid plexus	Enrichment	TP53	3.29
196	Basal cell carcinoma 7	Enrichment	TP53	3.29
197	Anaplastic thyroid carcinoma	Enrichment	TP53	3.29
198	Atrial fibrillation, familial, 8	Enrichment	ZFHX3	3.29
199	Ductal carcinoma in situ	Enrichment	TP53	3.29
200	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	3.29
201	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	3.29
202	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	3.29
203	Choroid plexus cancer	Enrichment	TP53	3.29
204	Pleomorphic xanthoastrocytoma	Enrichment	TP53	3.29
205	Uterine corpus cancer	Enrichment	ATM, CHEK2	3.26
206	Familial colorectal cancer type x	Enrichment	ATM, CHEK2	3.26
207	Exudative vitreoretinopathy	Enrichment	CTNNB1, FZD4	3.25
208	Neurofibromatosis, type i	Enrichment	NF1, SPRED1	3.24
209	Arteriovenous malformation	Enrichment	HRAS, RASA1	3.24
210	Cowden syndrome	Enrichment	AKT1, PTEN	3.24
211	Breast adenocarcinoma	Enrichment	KRAS, TP53	3.23
212	Lung squamous cell carcinoma	Enrichment	CDKN2A, KRAS	3.23
213	Thumb deformity	Enrichment	CREBBP	3.23
214	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	3.23
215	Acute myeloid leukemia with t(9;11)(p22;q23)	Enrichment	KMT2A	3.23
216	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	Enrichment	KMT2A	3.23
217	B-lymphoblastic leukemia/lymphoma with t	Enrichment	KMT2A	3.23
218	Pediatric systemic lupus erythematosus	Enrichment	SAT1	3.23
219	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	Enrichment	CBFB	3.23
220	Proteus syndrome	Enrichment	AKT1	3.23
221	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	3.23
222	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	3.23
223	Cowden syndrome 6	Enrichment	AKT1	3.23
224	Capillary hemangioma	Enrichment	AKT3	3.23
225	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	3.23
226	Holoprosencephaly 3	Enrichment	SHH	3.23
227	46,xy sex reversal 7	Enrichment	DHH	3.23
228	Microphthalmia/coloboma 5	Enrichment	SHH	3.23
229	Acrocapitofemoral dysplasia	Enrichment	IHH	3.23
230	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	Enrichment	SHH	3.23
231	Ectodermal dysplasia 17 with or without limb malformations	Enrichment	LEF1	3.23
232	Adenoid ameloblastoma	Enrichment	CTNNB1	3.23
233	Microcystic stromal tumor	Enrichment	CTNNB1	3.23
234	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	3.23
235	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	3.23
236	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	3.23
237	Encephalopathy, acute, infection-induced 9	Enrichment	NUP214	3.23
238	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	ABCD4, LMBRD1	3.21
239	Permanent neonatal diabetes mellitus	Enrichment	ABCC8, KCNJ11	3.21
240	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B	3.20
241	Oculoectodermal syndrome	Enrichment	KRAS	3.18
242	Chromosome 2q37 deletion syndrome	Enrichment	HDAC4	3.18
243	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	3.18
244	Neurodevelopmental disorder with central hypotonia and dysmorphic facies	Enrichment	HDAC4	3.18
245	Congenital pulmonary airway malformation	Enrichment	KRAS	3.18
246	Lip and oral cavity carcinoma	Enrichment	CDKN2A, TP53	3.18
247	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, RASA1	3.15
248	Polymicrogyria	Enrichment	AKT3, PSMC3	3.15
249	Myhre syndrome	Enrichment	SMAD4	3.13
250	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	Enrichment	SMAD4	3.13
251	Loeys-dietz syndrome 3	Enrichment	SMAD3	3.13
252	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	3.13
253	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, CHEK2, TP53	3.13
254	Breast-ovarian cancer, familial 1	Enrichment	ATM, CHEK2	3.11
255	Familial isolated dilated cardiomyopathy	Enrichment	PSEN1, PSEN2	3.09
256	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	3.09
257	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	3.09
258	Long qt syndrome 16	Enrichment	CALM3	3.09
259	Long qt syndrome 15	Enrichment	CALM2	3.09
260	Microvascular complications of diabetes 2	Enrichment	EPO	3.09
261	Microvascular complications of diabetes 1	Enrichment	VEGFA	3.09
262	Erythrocytosis, familial, 4	Enrichment	EPAS1	3.09
263	Atrial septal defect 8	Enrichment	CITED2	3.09
264	Erythrocytosis, familial, 5	Enrichment	EPO	3.09
265	Sinus venosus atrial septal defect	Enrichment	CITED2	3.09
266	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	3.09
267	Acne inversa, familial, 1	Enrichment	NCSTN	3.09
268	Charcot-marie-tooth disease, axonal, type 2hh	Enrichment	JAG1	3.09
269	Adams-oliver syndrome 6	Enrichment	DLL4	3.09
270	Cardiomyopathy, dilated, 1v	Enrichment	PSEN2	3.09
271	Alzheimer disease 18	Enrichment	ADAM10	3.09
272	Cardiomyopathy, dilated, 1u	Enrichment	PSEN1	3.09
273	Reticulate acropigmentation of kitamura	Enrichment	ADAM10	3.09
274	Acne inversa, familial, 2, with or without dowling-degos disease	Enrichment	PSENEN	3.09
275	Acne inversa, familial, 3	Enrichment	PSEN1	3.09
276	Deafness, congenital heart defects, and posterior embryotoxon	Enrichment	JAG1	3.09
277	Pash syndrome	Enrichment	NCSTN	3.09
278	Huntington's disease-like	Enrichment	PSEN2	3.09
279	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	3.09
280	Tethered spinal cord syndrome	Enrichment	CREBBP	3.05
281	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	3.05
282	Mixed phenotype acute leukemia with t	Enrichment	KMT2A	3.05
283	Advanced sleep phase syndrome, familial, 1	Enrichment	PER2	3.05
284	Advanced sleep phase syndrome, familial, 3	Enrichment	PER3	3.05
285	Advanced sleep phase syndrome, familial, 2	Enrichment	CSNK1D	3.05
286	Delayed sleep phase disorder	Enrichment	CRY1	3.05
287	Short sleep, familial natural, 1	Enrichment	BHLHE41	3.05
288	Diffuse large b-cell lymphoma	Enrichment	BTK, CD79B	3.05
289	Adult hepatocellular carcinoma	Enrichment	AXIN1, CTNNB1	3.03
290	Gliosarcoma	Enrichment	ATM, TP53	3.03
291	Brachydactyly, type b1	Enrichment	ROR2	3.02
292	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	3.02
293	Omodysplasia 2	Enrichment	FZD2	3.02
294	Deafness, autosomal recessive 108	Enrichment	ROR1	3.02
295	Microphthalmia/coloboma 11	Enrichment	FZD5	3.02
296	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	3.00
297	Adrenocortical carcinoma, hereditary	Enrichment	TP53	2.99
298	Camurati-engelmann disease 1	Enrichment	TGFB1	2.99
299	Cervical cancer	Enrichment	TP53	2.99
300	Lymphoma, hodgkin, classic	Enrichment	TP53	2.99
301	Inflammatory bowel disease, immunodeficiency, and encephalopathy	Enrichment	TGFB1	2.99
302	Camurati-engelmann disease	Enrichment	TGFB1	2.99
303	Congenital fibrosarcoma	Enrichment	TP53	2.99
304	Cervix carcinoma	Enrichment	TP53	2.99
305	Hodgkin's lymphoma	Enrichment	TP53	2.99
306	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	2.99
307	Hypospadias 2, x-linked	Enrichment	MAMLD1	2.99
308	46,xy ovotesticular disorder of sex development	Enrichment	MAMLD1	2.99
309	Noonan syndrome-like disorder with loose anagen hair 2	Enrichment	PPP1CB	2.99
310	Meningioma	Enrichment	AKT1, PTEN	2.98
311	Neural tube defects	Enrichment	SCRIB, VANGL2	2.98
312	Giant cell glioblastoma	Enrichment	ATM, TP53	2.97
313	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1, TNRC6B	2.96
314	Neutrophilic dermatosis, acute febrile	Enrichment	PTPN6	2.96
315	Juvenile polyposis syndrome	Enrichment	SMAD4	2.96
316	Prognathism, mandibular	Enrichment	CSNK2B	2.96
317	Spinocerebellar ataxia 14	Enrichment	PRKCG	2.96
318	Eyelid coloboma	Enrichment	ABCB6	2.93
319	Lens coloboma	Enrichment	ABCB6	2.93
320	Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly	Enrichment	RUNX2	2.93
321	Metaphyseal dysplasia, spahr type	Enrichment	MMP13	2.93
322	Spondyloepimetaphyseal dysplasia, missouri type	Enrichment	MMP13	2.93
323	Senior-loken syndrome 7	Enrichment	AKT3	2.93
324	Bardet-biedl syndrome 16	Enrichment	AKT3	2.93
325	Metaphyseal anadysplasia	Enrichment	MMP13	2.93
326	46,xy gonadal dysgenesis with minifascicular neuropathy	Enrichment	DHH	2.93
327	Solitary median maxillary central incisor	Enrichment	SHH	2.93
328	Inflammatory skin and bowel disease, neonatal, 1	Enrichment	ADAM17	2.93
329	Isolated radial hemimelia	Enrichment	SHH	2.93
330	Ectrodactyly and ectodermal dysplasia without cleft lip/palate	Enrichment	LEF1	2.93
331	Burkitt lymphoma	Enrichment	MYC	2.93
332	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	2.93
333	Split hand-foot malformation	Enrichment	LEF1	2.93
334	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	2.93
335	Teratoma	Enrichment	CTNNB1	2.93
336	Sveinsson chorioretinal atrophy	Enrichment	TEAD1	2.93
337	Kyphomelic dysplasia	Enrichment	CCN2	2.93
338	Spondyloepimetaphyseal dysplasia, li-shao-li type	Enrichment	CCN2	2.93
339	Retinitis pigmentosa 14	Enrichment	TEAD3	2.93
340	Intellectual developmental disorder, autosomal dominant 58	Enrichment	SET	2.93
341	Acute myeloid leukemia with t(6;9) (p23;q34.1)	Enrichment	NUP214	2.93
342	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	2.93
343	Osteopetrosis, autosomal recessive 7	Enrichment	TNFRSF11A	2.90
344	Leprosy 4	Enrichment	LTA	2.90
345	Immunodeficiency with hyper-igm, type 1	Enrichment	CD40LG	2.90
346	Immunodeficiency 132a	Enrichment	TRAF3	2.90
347	Immunodeficiency 132b	Enrichment	TRAF3	2.90
348	Immunodeficiency with hyper-igm, type 3	Enrichment	CD40	2.90
349	Immunodeficiency 112	Enrichment	MAP3K14	2.90
350	Cd40 ligand deficiency	Enrichment	CD40LG	2.90
351	Common variable immunodeficiency phenotype due to tweak deficiency	Enrichment	TNFSF12	2.90
352	Nik deficiency	Enrichment	MAP3K14	2.90
353	Dyskeratosis congenita, autosomal recessive 6	Enrichment	PARN	2.90
354	Pontocerebellar hypoplasia, type 1f	Enrichment	EXOSC1	2.90
355	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Enrichment	EXOSC5	2.90
356	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	Enrichment	PARN	2.90
357	Pontocerebellar hypoplasia, type 1c	Enrichment	EXOSC8	2.90
358	Pontocerebellar hypoplasia, type 1d	Enrichment	EXOSC9	2.90
359	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	Enrichment	EXOSC2	2.90
360	Wolf-hirschhorn syndrome	Enrichment	CTBP1	2.88
361	Storage pool platelet disease	Enrichment	RUNX1	2.88
362	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	2.88
363	Menke-hennekam syndrome 2	Enrichment	EP300	2.88
364	Tafro syndrome	Enrichment	RUNX1	2.88
365	Hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia	Enrichment	ABCA5	2.88
366	Peroxisome biogenesis disorder 10a	Enrichment	PEX3	2.88
367	Hypoadrenocorticism, familial	Enrichment	ABCD1	2.88
368	Peroxisome biogenesis disorder 12a	Enrichment	PEX19	2.88
369	Peroxisome biogenesis disorder 10b	Enrichment	PEX3	2.88
370	Encephalitis	Enrichment	ABCD1	2.88
371	Bile acid synthesis defect, congenital, 5	Enrichment	ABCD3	2.88
372	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	Enrichment	ABCA3	2.88
373	X-linked cerebral adrenoleukodystrophy	Enrichment	ABCD1	2.88
374	Adrenomyeloneuropathy	Enrichment	ABCD1	2.88
375	Chronic primary adrenal insufficiency	Enrichment	ABCD1	2.88
376	Omenn syndrome	Enrichment	RAG1, RAG2	2.87
377	Microform holoprosencephaly	Enrichment	GLI2, SUFU	2.86
378	Tooth agenesis, selective, 1	Enrichment	EDA, EDA2R	2.86
379	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	2.85
380	Proteasome-associated autoinflammatory syndrome 6	Enrichment	PSMB9	2.85
381	Loeys-dietz syndrome	Enrichment	TGFBR1, TGFBR2	2.85
382	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CLTC, GNB1, PPP3CA	2.84
383	Aortic aneurysm	Enrichment	SMAD3	2.83
384	Enophthalmos	Enrichment	CSNK2B	2.83
385	Syndactyly	Enrichment	CSNK2B	2.83
386	Coloboma of choroid and retina	Enrichment	ABCB6	2.83
387	Smith-magenis syndrome	Enrichment	SMS	2.83
388	Acute megakaryocytic leukemia	Enrichment	KMT2A	2.83
389	Hajdu-cheney syndrome	Enrichment	NOTCH2	2.83
390	Alagille syndrome 2	Enrichment	NOTCH2	2.83
391	Congenital heart defects, multiple types, 7	Enrichment	FLT4	2.83
392	Spinocerebellar ataxia 4	Enrichment	ZFHX3	2.81
393	Nasopharyngeal carcinoma	Enrichment	TP53	2.81
394	Atypical teratoid rhabdoid tumor	Enrichment	TP53	2.81
395	Anaplastic astrocytoma	Enrichment	TP53	2.81
396	Squamous cell carcinoma	Enrichment	TP53	2.81
397	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	2.79
398	Long qt syndrome 14	Enrichment	CALM1	2.79
399	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	2.79
400	Diamond-blackfan anemia-like	Enrichment	EPO	2.79
401	Ventricular septal defect 2	Enrichment	CITED2	2.79
402	Alzheimer disease 3	Enrichment	PSEN1	2.79
403	Pick disease of brain	Enrichment	PSEN1	2.79
404	Retinitis pigmentosa 26	Enrichment	ITGA4	2.75
405	Coloboma of optic nerve	Enrichment	ABCB6	2.75
406	Kabuki syndrome 1	Enrichment	KMT2A	2.75
407	Wiedemann-steiner syndrome	Enrichment	KMT2A	2.75
408	Hypertrichosis	Enrichment	CREBBP	2.75
409	Cleidocranial dysplasia 1	Enrichment	RUNX2	2.75
410	Cleidocranial dysplasia	Enrichment	RUNX2	2.75
411	Brachydactyly, type a1	Enrichment	IHH	2.75
412	Syndactyly, type iv	Enrichment	SHH	2.75
413	Hypoplastic or aplastic tibia with polydactyly	Enrichment	SHH	2.75
414	Neonatal inflammatory skin and bowel disease	Enrichment	ADAM17	2.75
415	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	2.75
416	Anus, imperforate	Enrichment	CTNNB1	2.75
417	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	2.75
418	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	MYC	2.75
419	Homocystinuria-megaloblastic anemia, cble type	Enrichment	PER3	2.75
420	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	NR1D1	2.75
421	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Enrichment	RORA	2.75
422	Marfan syndrome	Enrichment	TGFBR1, TGFBR2	2.75
423	Cone-rod dystrophy 6	Enrichment	GNAT2, PDE6B	2.74
424	Breast cancer	Enrichment	ATM, CHEK2, TP53	2.74
425	Generalized juvenile polyposis/juvenile polyposis coli	Enrichment	SMAD4	2.73
426	Rhabdomyosarcoma	Enrichment	HRAS, NF1	2.73
427	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	2.72
428	Platelet disorder, familial, with associated myeloid malignancy	Enrichment	RUNX1	2.70
429	Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with runx1	Enrichment	RUNX1	2.70
430	Small cell cancer of the lung	Enrichment	TP53	2.69
431	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	2.69
432	Embryonal rhabdomyosarcoma	Enrichment	TP53	2.69
433	Adams-oliver syndrome 5	Enrichment	NOTCH1	2.69
434	Adams-oliver syndrome 3	Enrichment	RBPJ	2.69
435	Posterior hypospadias	Enrichment	MAMLD1	2.69
436	X-linked myotubular myopathy-abnormal genitalia syndrome	Enrichment	MAMLD1	2.69
437	Noonan syndrome-like disorder with loose anagen hair	Enrichment	PPP1CB	2.69
438	Endometrial cancer	Enrichment	ATM, CHEK2	2.68
439	Medulloblastoma	Enrichment	APC, CTNNB1	2.64
440	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3	2.63
441	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3	2.63
442	Polydactyly, preaxial ii	Enrichment	SHH	2.63
443	Schizencephaly	Enrichment	SHH	2.63
444	Pilomatrixoma	Enrichment	CTNNB1	2.63
445	Alazami syndrome	Enrichment	CTNNB1	2.63
446	Mantle cell lymphoma	Enrichment	CCND1	2.63
447	Pseudomyogenic hemangioendothelioma	Enrichment	WWTR1	2.63
448	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	2.63
449	Immunodeficiency 61	Enrichment	SH3KBP1	2.63
450	Noonan syndrome 4	Enrichment	SOS1	2.63
451	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	2.63
452	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	2.63
453	Short syndrome	Enrichment	PIK3R1	2.63
454	Isolated growth hormone deficiency type iii	Enrichment	BTK	2.63
455	Immunodeficiency 10	Enrichment	STIM1	2.63
456	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	2.63
457	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	2.63
458	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	2.63
459	Immunodeficiency, common variable, 3	Enrichment	CD19	2.63
460	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	2.63
461	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	2.63
462	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	2.63
463	Colitis	Enrichment	SYK	2.63
464	Enchondromatosis	Enrichment	HIF1A	2.61
465	Alagille syndrome 1	Enrichment	JAG1	2.61
466	Familial expansile osteolysis	Enrichment	TNFRSF11A	2.60
467	Osteopetrosis, autosomal recessive 2	Enrichment	TNFSF11	2.60
468	Immunodeficiency, common variable, 4	Enrichment	TNFRSF13C	2.60
469	Congenital pontocerebellar hypoplasia type 1	Enrichment	EXOSC3	2.60
470	Rhabdomyosarcoma 2	Enrichment	TP53	2.59
471	Lymphoma	Enrichment	TP53	2.59
472	Hereditary hemorrhagic telangiectasia	Enrichment	SMAD4	2.59
473	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS	2.58
474	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	2.58
475	Cardiofaciocutaneous syndrome	Enrichment	KRAS	2.58
476	Blood platelet disease	Enrichment	RUNX1	2.58
477	Cornelia de lange syndrome 1	Enrichment	KMT2A	2.58
478	Cornelia de lange syndrome	Enrichment	KMT2A	2.58
479	Ichthyosis, congenital, autosomal recessive 4b	Enrichment	ABCA12	2.58
480	Carbamoyl phosphate synthetase i deficiency, hyperammonemia due to	Enrichment	ABCA3	2.58
481	Spondyloepimetaphyseal dysplasia, x-linked	Enrichment	ABCD1	2.58
482	Surfactant metabolism dysfunction, pulmonary, 1	Enrichment	ABCA3	2.58
483	Adrenoleukodystrophy	Enrichment	ABCD1	2.58
484	Ichthyosis, congenital, autosomal recessive 4a	Enrichment	ABCA12	2.58
485	Alzheimer disease 9	Enrichment	ABCA7	2.58
486	Sitosterolemia 2	Enrichment	ABCG5	2.58
487	Surfactant metabolism dysfunction, pulmonary, 3	Enrichment	ABCA3	2.58
488	Short-rib thoracic dysplasia 15 with polydactyly	Enrichment	ABCG5	2.58
489	Intellectual developmental disorder with poor growth and with or without seizures or ataxia	Enrichment	ABCA2	2.58
490	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	2.58
491	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	2.58
492	Cadds	Enrichment	ABCD1	2.58
493	Stankiewicz-isidor syndrome	Enrichment	PSMD12	2.56
494	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	2.56
495	Proteasome-associated autoinflammatory syndrome 5	Enrichment	PSMB10	2.55
496	Immunodeficiency 121 with autoinflammation	Enrichment	PSMB10	2.55
497	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	2.54
498	Endometrial serous adenocarcinoma	Enrichment	ATM	2.54
499	B-cell non-hodgkin lymphoma	Enrichment	ATM	2.54
500	Melanoma, cutaneous malignant 3	Enrichment	CDK4	2.54
501	Von hippel-lindau syndrome	Enrichment	CCND1	2.53
502	Diffuse cutaneous systemic sclerosis	Enrichment	CCN2	2.53
503	Cat eye syndrome	Enrichment	ABCB6	2.53
504	Lymphatic malformation 1	Enrichment	FLT4	2.53
505	Intracranial hypertension, idiopathic	Enrichment	FLT4	2.53
506	Aortic aneurysm, familial thoracic 2	Enrichment	ACTA2	2.53
507	Smooth muscle dysfunction syndrome	Enrichment	ACTA2	2.53
508	Aortic aneurysm, familial thoracic 6	Enrichment	ACTA2	2.53
509	Moyamoya disease 5	Enrichment	ACTA2	2.53
510	Hereditary lymphedema i	Enrichment	FLT4	2.53
511	Dominant hereditary optic atrophy	Enrichment	OPA1	2.53
512	Patent foramen ovale	Enrichment	CITED2, PSMC3	2.52
513	Birbeck granule deficiency	Enrichment	CD207	2.52
514	Inflammatory bowel disease 25, autosomal recessive	Enrichment	TGFB1	2.51
515	Il10-related early-onset inflammatory bowel disease	Enrichment	TGFB1	2.51
516	Oocyte/zygote/embryo maturation arrest 14	Enrichment	CDC20	2.51
517	Developmental and epileptic encephalopathy 109	Enrichment	FZR1	2.51
518	Oligodontia-colorectal cancer syndrome	Enrichment	AXIN2	2.51
519	Caudal duplication anomaly	Enrichment	AXIN1	2.51
520	Craniometadiaphyseal osteosclerosis with hip dysplasia	Enrichment	AXIN1	2.51
521	Immunodeficiency, developmental delay, and hypohomocysteinemia	Enrichment	NFE2L2	2.51
522	Parkinson disease 18, autosomal dominant	Enrichment	EIF4G1	2.50
523	Charcot-marie-tooth disease, axonal, type 2f	Enrichment	HSPB1	2.50
524	Human immunodeficiency virus type 1	Enrichment	HLA-C, IFNG	2.50
525	Dowling-degos disease 1	Enrichment	ADAM10	2.49
526	Dowling-degos disease	Enrichment	PSENEN	2.49
527	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	YWHAZ	2.49
528	Middle aortic syndrome	Enrichment	JAG1	2.49
529	Neurodevelopmental, jaw, eye, and digital syndrome	Enrichment	FBXW11	2.49
530	Tumor predisposition syndrome 4	Enrichment	CHEK2	2.49
531	Leiomyosarcoma	Enrichment	CHEK2	2.49
532	Oocyte/zygote/embryo maturation arrest 21	Enrichment	CHEK1	2.49
533	Accelerated tumor formation	Enrichment	MDM2	2.49
534	Lessel-kubisch syndrome	Enrichment	MDM2	2.49
535	Bone marrow failure syndrome 6	Enrichment	MDM4	2.49
536	Cdkn2a cancer predisposition	Enrichment	CDKN2A	2.49
537	Developmental delay, hypotonia, and impaired language	Enrichment	FBXW7	2.49
538	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	2.49
539	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	2.49
540	Townes-brocks syndrome 2	Enrichment	DACT1	2.49
541	Craniorachischisis	Enrichment	DACT1	2.49
542	Isolated congenital microcephaly	Enrichment	CASK, TUBA3E	2.49
543	Rubinstein-taybi syndrome 2	Enrichment	EP300	2.48
544	Aggressive systemic mastocytosis	Enrichment	RUNX1	2.48
545	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	Enrichment	RUNX1	2.48
546	Familial thoracic aortic aneurysm and dissection	Enrichment	SMAD3	2.48
547	Thrombocytopenia 6	Enrichment	SRC	2.48
548	Fetal encasement syndrome	Enrichment	CHUK	2.47
549	Deficiency in anterior pituitary function - variable immunodeficiency syndrome	Enrichment	NFKB2	2.47
550	Immunodeficiency 53	Enrichment	RELB	2.47
551	Bartsocas-papas syndrome 2	Enrichment	CHUK	2.47
552	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	2.47
553	Lung cancer susceptibility 3	Enrichment	KRAS, TP53	2.46
554	Thrombocytopenia	Enrichment	RUNX1, SMAD4, SRC	2.46
555	Culler-jones syndrome	Enrichment	GLI2	2.46
556	Joubert syndrome 32	Enrichment	SUFU	2.46
557	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	2.46
558	Holoprosencephaly 9	Enrichment	GLI2	2.46
559	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	2.46
560	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	2.46
561	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	Enrichment	GLI2	2.46
562	Pallister-hall syndrome	Enrichment	GLI3	2.46
563	Greig cephalopolysyndactyly syndrome	Enrichment	GLI3	2.46
564	Polydactyly, preaxial iv	Enrichment	GLI3	2.46
565	Polydactyly, preaxial i	Enrichment	GLI1	2.46
566	Polydactyly, postaxial, type a8	Enrichment	GLI1	2.46
567	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	2.46
568	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	2.46
569	Weyers acrofacial dysostosis	Enrichment	CTNNB1	2.45
570	Split-hand/foot malformation 1	Enrichment	LEF1	2.45
571	Limited scleroderma	Enrichment	CCN2	2.45
572	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	Enrichment	FBXL3	2.45
573	Esophageal cancer	Enrichment	TP53	2.44
574	Squamous cell carcinoma, head and neck	Enrichment	TP53	2.44
575	Essential thrombocythemia	Enrichment	TP53	2.44
576	Neuroendocrine tumor	Enrichment	CDKN1B	2.43
577	Dysosteosclerosis	Enrichment	TNFRSF11A	2.43
578	Psoriatic arthritis	Enrichment	LTA	2.43
579	Adult-onset myasthenia gravis	Enrichment	TNFRSF11A	2.43
580	Pontocerebellar hypoplasia, type 1b	Enrichment	EXOSC3	2.43
581	Cerebellar disease	Enrichment	EXOSC3	2.43
582	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	2.42
583	Incontinentia pigmenti	Enrichment	IKBKG	2.42
584	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	2.42
585	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	2.42
586	Immunodeficiency 15b	Enrichment	IKBKB	2.42
587	Immunodeficiency 15a	Enrichment	IKBKB	2.42
588	Immunodeficiency 92	Enrichment	REL	2.42
589	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	2.42
590	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	2.42
591	Proteasome-associated autoinflammatory syndrome 4	Enrichment	PSMG2	2.42
592	Keratosis linearis with ichthyosis congenita and sclerosing keratoderma	Enrichment	POMP	2.42
593	Proteasome-associated autoinflammatory syndrome 2	Enrichment	POMP	2.42
594	Cole-carpenter syndrome 1	Enrichment	P4HB	2.42
595	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	2.42
596	Nivelon-nivelon-mabille syndrome	Enrichment	HHAT	2.42
597	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	2.42
598	Neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies	Enrichment	SEL1L	2.42
599	Multisystem proteinopathy	Enrichment	VCP	2.42
600	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	2.42
601	Olmsted syndrome, x-linked	Enrichment	MBTPS2	2.42
602	Osteogenesis imperfecta, type xix	Enrichment	MBTPS2	2.42
603	Keratosis follicularis spinulosa decalvans, x-linked	Enrichment	MBTPS2	2.42
604	Craniolenticulosutural dysplasia	Enrichment	SEC23A	2.42
605	Mucoepithelial dysplasia, hereditary	Enrichment	SREBF1	2.42
606	Cole-carpenter syndrome 2	Enrichment	SEC24D	2.42
607	Ifap syndrome 2	Enrichment	SREBF1	2.42
608	Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome	Enrichment	MBTPS1	2.42
609	Ifap syndrome	Enrichment	MBTPS2	2.42
610	Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly	Enrichment	CASP2	2.42
611	Bresek syndrome	Enrichment	MBTPS2	2.42
612	Hemoglobin, high altitude adaptation	Enrichment	EGLN1	2.41
613	Retinal hemangioblastoma	Enrichment	VHL	2.41
614	Pancytopenia	Enrichment	RUNX1	2.40
615	Ehlers-danlos syndrome, kyphoscoliotic type, 1	Enrichment	ABCD1	2.40
616	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	2.40
617	Plod1-related kyphoscoliotic ehlers-danlos syndrome	Enrichment	ABCD1	2.40
618	Pediatric acute respiratory distress syndrome	Enrichment	ABCA3	2.40
619	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	2.39
620	Aplasia cutis congenita	Enrichment	DLL4	2.39
621	Dementia	Enrichment	PSEN1	2.39
622	Cystic angiomatosis of bone, diffuse	Enrichment	RASA1	2.39
623	Legius syndrome	Enrichment	SPRED1	2.39
624	Melanosis, neurocutaneous	Enrichment	NRAS	2.39
625	Noonan syndrome 6	Enrichment	NRAS	2.39
626	Noonan syndrome 14	Enrichment	SPRED2	2.39
627	Plexiform neurofibroma	Enrichment	NF1	2.39
628	Neurofibroma	Enrichment	NF1	2.39
629	Chromosome 17q11.2 deletion syndrome	Enrichment	NF1	2.39
630	Optic nerve glioma	Enrichment	NF1	2.39
631	Gorham's disease	Enrichment	RASA1	2.39
632	Phakomatosis pigmentokeratotica	Enrichment	HRAS	2.39
633	Neurocutaneous melanocytosis	Enrichment	NRAS	2.39
634	Vacterl association with hydrocephalus	Enrichment	PTEN	2.39
635	Papillary tumor of the pineal region	Enrichment	PTEN	2.39
636	Glioma susceptibility 2	Enrichment	PTEN	2.39
637	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	2.39
638	Maturity-onset diabetes of the young	Enrichment	ABCC8, KCNJ11	2.39
639	Megacolon	Enrichment	AKT3	2.38
640	Glioma susceptibility 1	Enrichment	TP53	2.38
641	Lymphoma, non-hodgkin, familial	Enrichment	TP53	2.38
642	Heart disease	Enrichment	CREBBP	2.38
643	Parietal foramina with cleidocranial dysplasia	Enrichment	MSX2	2.36
644	Split-hand/foot malformation 1 with sensorineural hearing loss, autosomal recessive	Enrichment	DLX5	2.36
645	Parietal foramina 1	Enrichment	MSX2	2.36
646	Glucocorticoid resistance, generalized	Enrichment	NR3C1	2.36
647	Craniosynostosis 2	Enrichment	MSX2	2.36
648	Immunodeficiency 31a	Enrichment	STAT1	2.36
649	Immunodeficiency 31b	Enrichment	STAT1	2.36
650	Spondylo-megaepiphyseal-metaphyseal dysplasia	Enrichment	NKX3-2	2.36
651	20p12.3 microdeletion syndrome	Enrichment	BMP2	2.36
652	Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1	Enrichment	BMP2	2.36
653	Split hand-foot malformation 1 with sensorineural hearing loss	Enrichment	DLX5	2.36
654	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	DVL2	2.35
655	Hereditary ataxia	Enrichment	PRKCG	2.35
656	Retinopathy of prematurity	Enrichment	FZD4	2.35
657	Coloboma of macula	Enrichment	ABCB6	2.35
658	Corpus callosum, agenesis of	Enrichment	CREBBP	2.35
659	Isolated corpus callosum agenesis	Enrichment	CREBBP	2.35
660	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP	2.35
661	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, SP7	2.35
662	Nail disorder, nonsyndromic congenital, 1	Enrichment	FZD6	2.34
663	Retinitis pigmentosa 57	Enrichment	PDE6G	2.34
664	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	2.34
665	Neurodevelopmental disorder with involuntary movements	Enrichment	GNAO1	2.34
666	Global developmental delay with speech and behavioral abnormalities	Enrichment	TNRC6B	2.34
667	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	2.34
668	Spondylometaphyseal dysplasia, pagnamenta type	Enrichment	PRKG2	2.34
669	Spondylometaphyseal dysplasia with corneal dystrophy	Enrichment	PLCB3	2.34
670	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	2.34
671	Developmental and epileptic encephalopathy 17	Enrichment	GNAO1	2.34
672	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	2.34
673	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	2.34
674	Retinitis pigmentosa 43	Enrichment	PDE6A	2.34
675	Epilepsy, familial adult myoclonic, 6	Enrichment	TNRC6A	2.34
676	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	2.34
677	Sick sinus syndrome 4	Enrichment	GNB2	2.34
678	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	2.34
679	Gnao1-related disorder	Enrichment	GNAO1	2.34
680	Pilomyxoid astrocytoma	Enrichment	KRAS	2.33
681	Primary hyperaldosteronism	Enrichment	TP53	2.33
682	Spinocerebellar ataxia 29	Enrichment	ITPR1	2.33
683	Fibromatosis, gingival, 1	Enrichment	SOS1	2.33
684	Pulmonic stenosis	Enrichment	SOS1	2.33
685	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	2.33
686	Agammaglobulinemia 4, autosomal recessive	Enrichment	BLNK	2.33
687	Immunodeficiency 9	Enrichment	ORAI1	2.33
688	Roifman-chitayat syndrome	Enrichment	PIK3CD	2.33
689	Maturity-onset diabetes of the young, type 11	Enrichment	BLK	2.33
690	Agammaglobulinemia, x-linked	Enrichment	BTK	2.33
691	Myopathy, tubular aggregate, 2	Enrichment	ORAI1	2.33
692	Agammaglobulinemia 4	Enrichment	BLNK	2.33
693	Immune system disease	Enrichment	PIK3CD	2.33
694	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19	2.33
695	Arthritis	Enrichment	SYK	2.33
696	Spondyloarthropathy 1	Enrichment	HLA-B	2.33
697	Psoriasis 1	Enrichment	HLA-C	2.33
698	Immunodeficiency 69	Enrichment	IFNG	2.33
699	Ankylosing spondylitis 1	Enrichment	HLA-B	2.33
700	Birdshot chorioretinopathy	Enrichment	HLA-A	2.33
701	Parkinson disease 5, autosomal dominant	Enrichment	UCHL1	2.33
702	Reactive arthritis	Enrichment	HLA-B	2.33
703	Pulmonary arterial hypertension associated with connective tissue disease	Enrichment	HLA-B	2.33
704	Bleeding disorder, platelet-type, 18	Enrichment	RASGRP2	2.33
705	Immunodeficiency 64 with lymphoproliferation	Enrichment	RASGRP1	2.33
706	Immunodeficiency 64	Enrichment	RASGRP1	2.33
707	Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency	Enrichment	RASGRP1	2.33
708	Polyvalvular heart disease syndrome	Enrichment	TAB2	2.33
709	Parkinson disease 1, autosomal dominant	Enrichment	SNCA	2.32
710	Caspase 8 deficiency	Enrichment	CASP8	2.32
711	Parkinson disease 4, autosomal dominant	Enrichment	SNCA	2.32
712	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	2.32
713	Leprosy 2	Enrichment	PRKN	2.32
714	Parkinsonism-dystonia 1, infantile-onset	Enrichment	SLC6A3	2.32
715	Parkinson disease 7, autosomal recessive early-onset	Enrichment	PARK7	2.32
716	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	2.32
717	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	2.32
718	Leukodystrophy, hypomyelinating, 15	Enrichment	EPRS1	2.32
719	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	2.32
720	Classic dopamine transporter deficiency syndrome	Enrichment	SLC6A3	2.32
721	Congenital myopathy 26	Enrichment	TUBA4A	2.32
722	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	2.32
723	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	2.32
724	Amyotrophic lateral sclerosis type 13	Enrichment	ATXN2	2.32
725	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	2.32
726	Parkinsonism-dystonia, infantile	Enrichment	SLC6A3	2.32
727	Methylmalonic aciduria and homocystinuria, cblf type	Enrichment	LMBRD1	2.32
728	Hyperinsulinemic hypoglycemia, familial, 2	Enrichment	KCNJ11	2.32
729	Spastic paraplegia 18b, autosomal recessive	Enrichment	ERLIN2	2.32
730	Arterial calcification, generalized, of infancy, 2	Enrichment	ABCC6	2.32
731	Pseudoxanthoma elasticum, forme fruste	Enrichment	ABCC6	2.32
732	Gallbladder disease 1	Enrichment	ABCB4	2.32
733	Intellectual disability and myopathy syndrome	Enrichment	ABCC9	2.32
734	Maturity-onset diabetes of the young, type 12	Enrichment	ABCC8	2.32
735	Diabetes mellitus, transient neonatal, 3	Enrichment	KCNJ11	2.32
736	Hereditary spastic paraplegia 18	Enrichment	ERLIN2	2.32
737	Diabetes mellitus, permanent neonatal, 2	Enrichment	KCNJ11	2.32
738	Methylmalonic aciduria and homocystinuria, cblj type	Enrichment	ABCD4	2.32
739	Maturity-onset diabetes of the young, type 13	Enrichment	KCNJ11	2.32
740	Autosomal dominant hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	2.32
741	Spastic paraplegia 62, autosomal recessive	Enrichment	ERLIN1	2.32
742	Diazoxide-resistant focal hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	2.32
743	Spastic paraplegia 18a, autosomal dominant	Enrichment	ERLIN2	2.32
744	Aquagenic palmoplantar keratoderma	Enrichment	CFTR	2.32
745	Congestive heart failure	Enrichment	ABCC8	2.32
746	Intermediate dend syndrome	Enrichment	KCNJ11	2.32
747	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	Enrichment	ERLIN2	2.32
748	Diazoxide-resistant focal hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.32
749	Autosomal recessive hyperinsulinism due to sur1 deficiency	Enrichment	ABCC8	2.32
750	Hypoalphalipoproteinemia	Enrichment	ABCA1	2.32
751	Autosomal dominant hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.32
752	Autosomal recessive hyperinsulinism due to kir6.2 deficiency	Enrichment	KCNJ11	2.32
753	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	2.31
754	Telangiectasia, hereditary hemorrhagic, type 1	Enrichment	PSEN1	2.31
755	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	2.31
756	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	2.31
757	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	2.31
758	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	2.31
759	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	2.31
760	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	2.31
761	Congenital stationary night blindness	Enrichment	GNB3, PDE6B	2.31
762	Paget disease of bone 2, early-onset	Enrichment	TNFRSF11A	2.30
763	Autosomal recessive osteopetrosis	Enrichment	TNFSF11	2.30
764	Paget's disease of bone 2	Enrichment	TNFRSF11A	2.30
765	Familial colorectal cancer	Enrichment	TP53	2.29
766	Houge-janssens syndrome 4	Enrichment	PPP2R5C	2.29
767	Houge-janssens syndrome 2	Enrichment	PPP2R1A	2.29
768	Familial adenomatous polyposis	Enrichment	APC	2.29
769	Gardner syndrome	Enrichment	APC	2.29
770	5q22 microdeletion syndrome	Enrichment	APC	2.29
771	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	2.29
772	Attenuated familial adenomatous polyposis	Enrichment	APC	2.29
773	Osteoporosis	Enrichment	COL1A1, SRC	2.29
774	Skin creases, congenital symmetric circumferential, 1	Enrichment	TUBB	2.27
775	Cortical dysplasia, complex, with other brain malformations 6	Enrichment	TUBB	2.27
776	Even-plus syndrome	Enrichment	HSPA9	2.27
777	Anemia, sideroblastic, 4	Enrichment	HSPA9	2.27
778	Cask-related intellectual disability	Enrichment	CASK	2.27
779	Brunet-wagner neurodevelopmental syndrome	Enrichment	RBL2	2.27
780	Polydactyly-macrocephaly syndrome	Enrichment	MAX	2.27
781	Trilateral retinoblastoma	Enrichment	RB1	2.27
782	Lung oat cell carcinoma	Enrichment	RB1	2.27
783	Birk-aharoni syndrome	Enrichment	PSMC1	2.26
784	17q24.2 microdeletion syndrome	Enrichment	PSMD12	2.26
785	Submucosal cleft palate	Enrichment	UBB	2.26
786	Cleft hard palate	Enrichment	UBB	2.26
787	Immunodeficiency 116	Enrichment	CD8A	2.26
788	Immunodeficiency 43	Enrichment	B2M	2.26
789	Mhc class i deficiency 3	Enrichment	TAPBP	2.26
790	Immunodeficiency 18	Enrichment	CD3E	2.26
791	Dialysis-related amyloidosis	Enrichment	B2M	2.26
792	Tubulointerstitial kidney disease, autosomal dominant 5	Enrichment	SEC61A1	2.26
793	Immunodeficiency 25	Enrichment	CD247	2.26
794	Amyloidosis, hereditary systemic 6	Enrichment	B2M	2.26
795	Neutropenia, severe congenital, 11, autosomal dominant	Enrichment	SEC61A1	2.26
796	Immunodeficiency 19, severe combined	Enrichment	CD3D	2.26
797	Immunodeficiency 19	Enrichment	CD3D	2.26
798	Norrie disease	Enrichment	FZD4	2.26
799	Persistent hyperplastic primary vitreous	Enrichment	FZD4	2.26
800	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	2.25
801	Deafness, autosomal recessive 32, with or without immotile sperm	Enrichment	CDC14A	2.25
802	Alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity	Enrichment	RAG1	2.25
803	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	2.25
804	Recombinase activating gene 1 deficiency	Enrichment	RAG1	2.25
805	Neurocardiofaciodigital syndrome	Enrichment	MAPKAPK5	2.25
806	Takenouchi-kosaki syndrome	Enrichment	CDC42	2.25
807	Autosomal recessive nonsyndromic deafness 32	Enrichment	CDC14A	2.25
808	Recombinase activating gene 2 deficiency	Enrichment	RAG2	2.25
809	Nocarh syndrome	Enrichment	CDC42	2.25
810	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	2.25
811	Combined immunodeficiency due to partial rag1 deficiency	Enrichment	RAG1	2.25
812	Semantic dementia	Enrichment	PSEN1	2.25
813	Myelodysplastic syndrome	Enrichment	TP53	2.25
814	Inflammatory myofibroblastic tumor	Enrichment	CLTC	2.24
815	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	2.24
816	High grade glioma	Enrichment	ATM	2.24
817	T-cell prolymphocytic leukemia	Enrichment	ATM	2.24
818	Mullerian aplasia and hyperandrogenism	Enrichment	WNT4	2.23
819	46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs	Enrichment	WNT4	2.23
820	Immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis	Enrichment	RAC2	2.23
821	Amyotrophic lateral sclerosis 18	Enrichment	PFN1	2.23
822	Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies	Enrichment	RAC3	2.23
823	Immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia	Enrichment	RAC2	2.23
824	Bone mineral density quantitative trait locus 16	Enrichment	WNT1	2.23
825	Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies	Enrichment	RHOA	2.23
826	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	Enrichment	RHOA	2.23
827	Immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia	Enrichment	RAC2	2.23
828	Infantile lad-like disease due to rac2 deficiency	Enrichment	RAC2	2.23
829	Reticular dysgenesis-like severe combined immunodeficiency	Enrichment	RAC2	2.23
830	Rac2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	Enrichment	RAC2	2.23
831	Autoimmune lymphoproliferative syndrome	Enrichment	ACTA2	2.23
832	Macs syndrome	Enrichment	ABCB6	2.23
833	Optic atrophy 1	Enrichment	OPA1	2.23
834	Behr syndrome	Enrichment	OPA1	2.23
835	Mitochondrial dna depletion syndrome 14	Enrichment	OPA1	2.23
836	Optic atrophy 8	Enrichment	OPA1	2.23
837	Charge syndrome	Enrichment	EP300	2.22
838	Atypical chronic myeloid leukemia, bcr-abl1 negative	Enrichment	RUNX1	2.22
839	Isolated macular dystrophy	Enrichment	ITGA4	2.21
840	Lymphoma, mucosa-associated lymphoid type	Enrichment	BIRC3	2.20
841	Herpes simplex virus encephalitis	Enrichment	TRAF3	2.20
842	Neuronopathy, distal hereditary motor, autosomal dominant 3	Enrichment	HSPB1	2.20
843	Immune deficiency, familial variable	Enrichment	TNFRSF13B	2.20
844	Immunodeficiency 16	Enrichment	TNFRSF4	2.20
845	Lymphoproliferative syndrome 3	Enrichment	CD70	2.20
846	Tooth agenesis, selective, x-linked, 1	Enrichment	EDA	2.20
847	Immunoglobulin a deficiency 2	Enrichment	TNFRSF13B	2.20
848	Hair morphology 1	Enrichment	EDAR	2.20
849	Ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant	Enrichment	EDARADD	2.20
850	Immunodeficiency 109 with lymphoproliferation	Enrichment	TNFRSF9	2.20
851	Common variable immunodeficiency phenotype due to homozygous taci deficiency	Enrichment	TNFRSF13B	2.20
852	Torticollis	Enrichment	ACTL6A	2.19
853	Baraitser-winter syndrome 1	Enrichment	ACTB	2.19
854	Melanoma, uveal 2	Enrichment	BAP1	2.19
855	Multiple self-healing squamous epithelioma	Enrichment	TGFBR1	2.19
856	Shashi-pena syndrome	Enrichment	ASXL2	2.19
857	Congenital smooth muscle hamartoma, with or without hemihypertrophy	Enrichment	ACTB	2.19
858	Becker nevus syndrome	Enrichment	ACTB	2.19
859	Dystonia-deafness syndrome 1	Enrichment	ACTB	2.19
860	Colorectal cancer, hereditary nonpolyposis, type 6	Enrichment	TGFBR2	2.19
861	Colorectal cancer 3	Enrichment	SMAD7	2.19
862	Mbd5 haploinsufficiency	Enrichment	MBD5	2.19
863	Thrombocytopenia 8, with dysmorphic features and developmental delay	Enrichment	ACTB	2.19
864	Baraitser-winter syndrome	Enrichment	ACTB	2.19
865	Congenital smooth muscle hamartoma	Enrichment	ACTB	2.19
866	Developmental malformations-deafness-dystonia syndrome	Enrichment	ACTB	2.19
867	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	2.19
868	Congenital heart defects, multiple types, 3	Enrichment	CHEK2	2.19
869	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	2.19
870	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	2.19
871	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	2.19
872	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	2.19
873	Townes-brocks syndrome	Enrichment	DACT1	2.19
874	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	2.18
875	Hereditary pulmonary alveolar proteinosis	Enrichment	ABCA3	2.18
876	Apocrine gland secretion, variation in	Enrichment	ABCC11	2.18
877	Colchicine resistance	Enrichment	ABCB1	2.18
878	Mandibulofacial dysostosis with impaired intellectual development	Enrichment	ABCA4	2.18
879	Mehmo syndrome	Enrichment	EIF2S3	2.18
880	Encephalopathy, acute transient	Enrichment	ABCB1	2.18
881	Deafness, autosomal dominant 77	Enrichment	ABCC1	2.18
882	Inflammatory bowel disease 13	Enrichment	ABCB1	2.18
883	Retinal disease	Enrichment	ABCA4	2.18
884	Renal cell carcinoma with mit translocations	Enrichment	CLTC	2.17
885	Developmental and epileptic encephalopathy 87	Enrichment	AMD1	2.17
886	Immunodeficiency, common variable, 10	Enrichment	NFKB2	2.17
887	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	2.16
888	Rela fusion-positive ependymoma	Enrichment	RELA	2.16
889	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	2.16
890	White-sutton syndrome	Enrichment	GLI2	2.16
891	Basal cell nevus syndrome 2	Enrichment	SUFU	2.16
892	Tibial hemimelia	Enrichment	GLI3	2.16
893	Synpolydactyly	Enrichment	GLI3	2.16
894	Postaxial polydactyly type b	Enrichment	GLI3	2.16
895	Non-immune hydrops fetalis	Enrichment	HRAS, KRAS	2.16
896	Ehlers-danlos syndrome	Enrichment	SMAD3	2.16
897	Septooptic dysplasia	Enrichment	SHH	2.15
898	Scoliosis	Enrichment	CREBBP	2.15
899	Gillespie syndrome	Enrichment	ITPR1	2.15
900	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	2.15
901	Nuchal bleb, familial	Enrichment	SOS1	2.15
902	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3R1	2.15
903	Agammaglobulinemia 1	Enrichment	BTK	2.15
904	Progressive non-fluent aphasia	Enrichment	PSEN1	2.14
905	Behavioral variant of frontotemporal dementia	Enrichment	PSEN1	2.14
906	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	2.13
907	Pulmonary fibrosis	Enrichment	PARN	2.13
908	Hoyeraal-hreidarsson syndrome	Enrichment	PARN	2.13
909	Immunodeficiency 33	Enrichment	IKBKG	2.12
910	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	2.12
911	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	2.12
912	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	2.12
913	Common variable immunodeficiency 12	Enrichment	NFKB1	2.12
914	Isolated anencephaly	Enrichment	VANGL2	2.12
915	Isolated exencephaly	Enrichment	VANGL2	2.12
916	Microphthalmia/coloboma 12	Enrichment	YAP1	2.12
917	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	2.12
918	Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia	Enrichment	SEL1L	2.12
919	Spastic paraplegia-paget disease of bone syndrome	Enrichment	VCP	2.12
920	Anemia, congenital dyserythropoietic, type ii	Enrichment	SEC23B	2.12
921	Hyperlipoproteinemia, type iii	Enrichment	LDLR	2.12
922	Cowden syndrome 7	Enrichment	SEC23B	2.12
923	Congenital dyserythropoietic anemia	Enrichment	SEC23B	2.12
924	Spastic paraplegia 89, autosomal recessive	Enrichment	AMFR	2.12
925	Spondyloepiphyseal dysplasia, kondo-fu type	Enrichment	MBTPS1	2.12
926	Coats disease	Enrichment	FZD4	2.11
927	Acute leukemia of ambiguous lineage	Enrichment	VHL	2.11
928	Barber-say syndrome	Enrichment	TWIST2	2.11
929	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	2.11
930	Prostate cancer, hereditary, x-linked 3	Enrichment	AR	2.11
931	Androgen insensitivity, partial	Enrichment	AR	2.11
932	Cataract 21, multiple types	Enrichment	MAF	2.11
933	Focal facial dermal dysplasia 2, brauer-setleis type	Enrichment	TWIST2	2.11
934	Focal facial dermal dysplasia 3, setleis type	Enrichment	TWIST2	2.11
935	Radioulnar synostosis, nonsyndromic	Enrichment	SMAD6	2.11
936	Ablepharon-macrostomia syndrome	Enrichment	TWIST2	2.11
937	Noonan syndrome 13	Enrichment	MAPK1	2.11
938	46,xy sex reversal 10	Enrichment	SOX9	2.11
939	46,xx sex reversal 2	Enrichment	SOX9	2.11
940	Ayme-gripp syndrome	Enrichment	MAF	2.11
941	Jansen-de vries syndrome	Enrichment	PPM1D	2.11
942	Asphyxia neonatorum	Enrichment	COL1A1	2.11
943	Complete androgen insensitivity syndrome	Enrichment	AR	2.11
944	Peroxisome biogenesis disorder 1a	Enrichment	PEX3	2.10
945	Cafe-au-lait spots, multiple	Enrichment	NF1	2.09
946	Costello syndrome	Enrichment	HRAS	2.09
947	Intellectual developmental disorder, autosomal recessive 5	Enrichment	SYNGAP1	2.09
948	Chromosome 17q11.2 duplication syndrome, 1.4-mb	Enrichment	NF1	2.09
949	Bardet-biedl syndrome 9	Enrichment	NF1	2.09
950	Wooly hair nevus	Enrichment	HRAS	2.09
951	Spondyloepiphyseal dysplasia, nishimura type	Enrichment	WWP2	2.09
952	Spinocerebellar ataxia 48	Enrichment	STUB1	2.09
953	Vacterl with hydrocephalus	Enrichment	PTEN	2.09
954	Juvenile polyposis of infancy	Enrichment	PTEN	2.09
955	Uvula, bifid	Enrichment	UBB	2.09
956	Cleft soft palate	Enrichment	UBB	2.09
957	Thyroid hemiagenesis	Enrichment	PSMD3	2.09
958	Diabetes insipidus, neurohypophyseal	Enrichment	AVP	2.09
959	Factor vii deficiency	Enrichment	F7	2.09
960	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	2.09
961	Epilepsy, idiopathic generalized 15	Enrichment	RORB	2.09
962	Plasminogen activator inhibitor-1 deficiency	Enrichment	SERPINE1	2.09
963	Central diabetes insipidus	Enrichment	AVP	2.09
964	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	2.09
965	Congenital anomalies of kidney and urinary tract 3	Enrichment	NRIP1	2.09
966	5q14.3 microdeletion syndrome	Enrichment	MEF2C	2.09
967	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	2.09
968	Congenital plasminogen activator inhibitor type 1 deficiency	Enrichment	SERPINE1	2.09
969	Mef2c-related disorder	Enrichment	MEF2C	2.09
970	Congenital factor vii deficiency	Enrichment	F7	2.09
971	Hereditary arginine vasopressin deficiency	Enrichment	AVP	2.09
972	Language disorder	Enrichment	SIK1	2.09
973	Hypoplastic left heart syndrome	Enrichment	NOTCH1	2.08
974	Heart, malformation of	Enrichment	MAPK1, SMAD6	2.07
975	Myoclonic-atonic epilepsy	Enrichment	AP2M1	2.07
976	Ataxia-telangiectasia	Enrichment	ATM	2.07
977	Polycythemia vera	Enrichment	ATM	2.07
978	Koolen-de vries syndrome	Enrichment	ATM	2.07
979	Dedifferentiated liposarcoma	Enrichment	CDK4	2.07
980	Well-differentiated liposarcoma	Enrichment	CDK4	2.07
981	Galactosemia ii	Enrichment	NR3C1	2.06
982	Robinow-sorauf syndrome	Enrichment	TWIST1	2.06
983	Immunodeficiency 31c	Enrichment	STAT1	2.06
984	Sweeney-cox syndrome	Enrichment	TWIST1	2.06
985	Parietal foramina	Enrichment	MSX2	2.06
986	Non-syndromic sagittal craniosynostosis	Enrichment	TWIST1	2.06
987	Septopreoptic holoprosencephaly	Enrichment	SHH	2.05
988	Midline interhemispheric variant of holoprosencephaly	Enrichment	SHH	2.05
989	Moyamoya disease 1	Enrichment	ACTA2	2.05
990	Hemangioma, capillary infantile	Enrichment	FLT4	2.05
991	Glaucoma, normal tension	Enrichment	OPA1	2.05
992	Autosomal dominant optic atrophy, classic form	Enrichment	OPA1	2.05
993	Frontotemporal dementia 1	Enrichment	PSEN1	2.05
994	Premature ovarian failure 3	Enrichment	AGO2	2.04
995	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	2.04
996	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Enrichment	AGO1	2.04
997	Acromesomelic dysplasia 4	Enrichment	PRKG2	2.04
998	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	2.04
999	Cerebral visual impairment	Enrichment	GNB1	2.04
1000	Oculopharyngodistal myopathy 1	Enrichment	ABCD3	2.03
1001	Type 2 diabetes mellitus	Enrichment	TCF7L2	2.03
1002	Lobar holoprosencephaly	Enrichment	SHH	2.03
1003	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	STIM1	2.03
1004	Spinocerebellar ataxia 15	Enrichment	ITPR1	2.03
1005	Gingival fibromatosis	Enrichment	SOS1	2.03
1006	Vexas syndrome	Enrichment	UBA1	2.03
1007	Spastic paraplegia 79b, autosomal recessive	Enrichment	UCHL1	2.03
1008	Spinal muscular atrophy, x-linked 2	Enrichment	UBA1	2.03
1009	Stevens-johnson syndrome	Enrichment	HLA-B	2.03
1010	Hereditary spastic paraplegia 79a	Enrichment	UCHL1	2.03
1011	Spastic paraplegia 79a, autosomal dominant, with ataxia	Enrichment	UCHL1	2.03
1012	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	Enrichment	RPN1	2.03
1013	Congenital heart defects, multiple types, 2	Enrichment	TAB2	2.03
1014	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	Enrichment	TAB2	2.03
1015	Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1	Enrichment	PARK7	2.02
1016	Spinocerebellar ataxia 1	Enrichment	ATXN1	2.02
1017	Spinocerebellar ataxia 7	Enrichment	ATXN7	2.02
1018	Microcephaly and chorioretinopathy, autosomal recessive, 1	Enrichment	TUBGCP6	2.02
1019	Parkinson disease 12	Enrichment	PRKN	2.02
1020	Spinocerebellar ataxia 2	Enrichment	ATXN2	2.02
1021	Cortical dysplasia, complex, with other brain malformations 4	Enrichment	TUBG1	2.02
1022	Cortical dysplasia, complex, with other brain malformations 15	Enrichment	TUBGCP2	2.02
1023	Parkinson disease 15, autosomal recessive early-onset	Enrichment	SNCA	2.02
1024	Microcephaly and chorioretinopathy 1	Enrichment	TUBGCP6	2.02
1025	Tangier disease	Enrichment	ABCA1	2.02
1026	Spermatogenic failure, y-linked, 2	Enrichment	CFTR	2.02
1027	Cardiomyopathy, dilated, 1o	Enrichment	ABCC9	2.02
1028	Cholestasis, benign recurrent intrahepatic, 2	Enrichment	ABCB11	2.02
1029	Diabetes mellitus, permanent neonatal, 1	Enrichment	KCNJ11	2.02
1030	Primary lateral sclerosis, juvenile	Enrichment	ERLIN2	2.02
1031	Hypoglycemia, leucine-induced	Enrichment	ABCC8	2.02
1032	Cholestasis, progressive familial intrahepatic, 4	Enrichment	ABCB11	2.02
1033	Atrial fibrillation, familial, 12	Enrichment	ABCC9	2.02
1034	Diabetes mellitus, transient neonatal, 2	Enrichment	ABCC8	2.02
1035	Cholestasis, progressive familial intrahepatic, 2	Enrichment	ABCB11	2.02
1036	Diabetes mellitus, permanent neonatal, 3	Enrichment	ABCC8	2.02
1037	Arterial calcification of infancy	Enrichment	ABCC6	2.02
1038	Hyperinsulinism	Enrichment	KCNJ11	2.02
1039	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	2.01
1040	Occipital encephalocele	Enrichment	DACT1	2.01
1041	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	2.01
1042	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	2.01
1043	Keratoconus 9	Enrichment	TUBA3D	2.01
1044	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	2.01
1045	Lissencephaly 3	Enrichment	TUBA1A	2.01
1046	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	2.01
1047	Torsion dystonia 4	Enrichment	TUBB4A	2.01
1048	Continuous spikes and waves during sleep	Enrichment	TUBA1A	2.01
1049	Polydactyly, postaxial, type a1	Enrichment	EP300	2.00
1050	Lynch syndrome	Enrichment	KRAS	2.00
1051	Alobar holoprosencephaly	Enrichment	SHH	2.00
1052	Polycystic liver disease	Enrichment	CTNNB1	2.00
1053	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	2.00
1054	Lung cancer	Enrichment	CASP8, PRKN	1.99
1055	Houge-janssens syndrome 1	Enrichment	PPP2R5D	1.99
1056	Periampullary adenoma	Enrichment	APC	1.99
1057	Gastric adenocarcinoma and proximal polyposis of the stomach	Enrichment	APC	1.99
1058	Houge-janssens syndrome 3	Enrichment	PPP2CA	1.99
1059	Hereditary retinal dystrophy	Enrichment	FZD4, GNAT2, PDE6A, PDE6B, PDE6G	1.99
1060	Fundus dystrophy	Enrichment	FZD4, GNAT2, PDE6A, PDE6B, PDE6G	1.99
1061	Desmoplastic/nodular medulloblastoma	Enrichment	SUFU	1.98
1062	Acrocallosal syndrome	Enrichment	GLI3	1.98
1063	Aarskog-scott syndrome	Enrichment	GLI3	1.98
1064	Umbilical hernia	Enrichment	GLI3	1.98
1065	Alzheimer's disease	Enrichment	PSEN1	1.98
1066	Myocarditis	Enrichment	ABCD1	1.98
1067	Zellweger spectrum disorder	Enrichment	PEX19	1.98
1068	Semilobar holoprosencephaly	Enrichment	SHH	1.98
1069	Fg syndrome 4	Enrichment	CASK	1.97
1070	Syndromic x-linked intellectual disability	Enrichment	CASK	1.97
1071	Autosomal recessive sideroblastic anemia	Enrichment	HSPA9	1.97
1072	Buratti-harel syndrome	Enrichment	SIAH1	1.97
1073	Multiple benign circumferential skin creases on limbs	Enrichment	TUBB	1.97
1074	Chromosome 13q14 deletion syndrome	Enrichment	RB1	1.97
1075	Familial retinoblastoma	Enrichment	RB1	1.97
1076	Immunodeficiency, common variable, 15	Enrichment	SEC61A1	1.96
1077	Trypsinogen deficiency	Enrichment	TRB	1.96
1078	Immunodeficiency 17	Enrichment	CD3G	1.96
1079	Arteriovenous malformations of the brain	Enrichment	SCUBE2	1.95
1080	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	1.95
1081	Frontometaphyseal dysplasia	Enrichment	MAP3K7	1.95
1082	Epilepsy, progressive myoclonic, 1b	Enrichment	PRICKLE1	1.95
1083	Oculomotor apraxia	Enrichment	ATM	1.94
1084	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	1.94
1085	Cole-carpenter syndrome	Enrichment	P4HB	1.94
1086	Hypercholesterolemia, familial, 2	Enrichment	LDLR	1.94
1087	Intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia	Enrichment	LDLR	1.94
1088	Hypercholesterolemia, familial, 4	Enrichment	LDLR	1.94
1089	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	MBTPS2	1.94
1090	Syndromic x-linked intellectual disability najm type	Enrichment	LDLR	1.94
1091	Osteogenesis imperfecta, type xv	Enrichment	WNT1	1.94
1092	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	VHL	1.93
1093	Primary polycythemia	Enrichment	VHL	1.93
1094	Diamond-blackfan anemia 1	Enrichment	TP53	1.93
1095	Watson syndrome	Enrichment	NF1	1.92
1096	Langerhans cell histiocytosis	Enrichment	NRAS	1.92
1097	Intellectual developmental disorder, autosomal dominant 5	Enrichment	SYNGAP1	1.92
1098	Neurofibromatosis, familial spinal	Enrichment	NF1	1.92
1099	Chromosome 17q11.2 deletion syndrome, 1.4-mb	Enrichment	NF1	1.92
1100	Wieacker-wolff syndrome	Enrichment	RASA1	1.92
1101	Brain cancer	Enrichment	NF1	1.92
1102	Spermatocytoma	Enrichment	HRAS	1.92
1103	Laryngeal squamous cell carcinoma	Enrichment	PTEN	1.92
1104	Congenital nervous system abnormality	Enrichment	CTNNB1, GNAO1, GNB5	1.90
1105	Nervous system disease	Enrichment	CTNNB1, GNAO1, GNB5	1.90
1106	Immunodeficiency, common variable, 2	Enrichment	TNFRSF13B	1.90
1107	Immunodeficiency with hyper-igm, type 2	Enrichment	TNFRSF13B	1.90
1108	Microvascular complications of diabetes 5	Enrichment	TGFBR2	1.89
1109	Gabriele-de vries syndrome	Enrichment	YY1	1.89
1110	Bohring-opitz syndrome	Enrichment	ASXL1	1.89
1111	Ocular melanoma	Enrichment	BAP1	1.89
1112	Developmental and epileptic encephalopathy 78	Enrichment	YY1	1.89
1113	Insulinoma	Enrichment	YY1	1.89
1114	Baraitser-winter cerebrofrontofacial syndrome	Enrichment	ACTB	1.89
1115	Kury-isidor syndrome	Enrichment	BAP1	1.89
1116	Hemoglobin c disease	Enrichment	CHEK2	1.89
1117	Male infertility due to gonadal dysgenesis or sperm disorder	Enrichment	CHEK1	1.89
1118	Craniosynostosis 1	Enrichment	TWIST1	1.89
1119	Transposition of the great arteries, dextro-looped	Enrichment	BMP2	1.89
1120	Estrogen resistance	Enrichment	ESR1	1.89
1121	Migraine without aura	Enrichment	ESR1	1.89
1122	Congenital nonbullous ichthyosiform erythroderma	Enrichment	ABCA12	1.88
1123	Stargardt disease 3	Enrichment	ABCA4	1.88
1124	Cone-rod dystrophy 3	Enrichment	ABCA4	1.88
1125	Leber congenital amaurosis 14	Enrichment	ABCA4	1.88
1126	Aortic valve disease 1	Enrichment	NOTCH1	1.87
1127	Night blindness, congenital stationary, autosomal dominant 2	Enrichment	PDE6B	1.86
1128	Retinitis pigmentosa 40	Enrichment	PDE6B	1.86
1129	Nail disease	Enrichment	FZD6	1.86
1130	Lessel-kreienkamp syndrome	Enrichment	AGO2	1.86
1131	Sudden infant death syndrome	Enrichment	CALM2	1.86
1132	Alzheimer disease, familial, 1	Enrichment	PSEN1	1.86
1133	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1	1.85
1134	Takayasu arteritis	Enrichment	HLA-B	1.85
1135	Tuberous sclerosis 1	Enrichment	IFNG	1.85
1136	Hepatitis c virus	Enrichment	IFNG	1.85
1137	Tuberous sclerosis 2	Enrichment	IFNG	1.85
1138	Pelvic organ prolapse	Enrichment	TAB2	1.85
1139	Glioblastoma	Enrichment	ATM	1.84
1140	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	1.84
1141	Spinocerebellar ataxia 10	Enrichment	ATXN10	1.84
1142	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	1.84
1143	Dubin-johnson syndrome	Enrichment	ABCC2	1.84
1144	Cantu syndrome	Enrichment	ABCC9	1.84
1145	Hyperinsulinemic hypoglycemia	Enrichment	ABCC8	1.84
1146	Ichthyosis	Enrichment	ABCA12	1.84
1147	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	1.84
1148	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	1.84
1149	3-methylglutaconic aciduria, type iii	Enrichment	OPA1	1.83
1150	Primary hyperparathyroidism	Enrichment	CDKN1B	1.83
1151	Cerebral palsy	Enrichment	TUBA1A, TUBB4A	1.81
1152	Cenani-lenz syndactyly syndrome	Enrichment	APC	1.81
1153	Colon adenocarcinoma	Enrichment	APC	1.81
1154	Apc-associated polyposis conditions	Enrichment	APC	1.81
1155	Erythrocytosis, familial, 2	Enrichment	VHL	1.81
1156	Au-kline syndrome	Enrichment	VHL	1.81
1157	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	1.81
1158	Campomelic dysplasia	Enrichment	SOX9	1.81
1159	Craniodiaphyseal dysplasia	Enrichment	SP7	1.81
1160	Spinal and bulbar muscular atrophy, x-linked 1	Enrichment	AR	1.81
1161	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	1.81
1162	Osteogenesis imperfecta, type xii	Enrichment	SP7	1.81
1163	Developmental and epileptic encephalopathy 28	Enrichment	MAF	1.81
1164	Spinocerebellar ataxia, autosomal recessive 12	Enrichment	MAF	1.81
1165	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	1.81
1166	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	1.81
1167	46,xy sex reversal 1	Enrichment	AR	1.81
1168	Androgen insensitivity syndrome	Enrichment	AR	1.81
1169	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1	1.81
1170	Hypospadias 1, x-linked	Enrichment	AR	1.81
1171	Stickler syndrome, type ii	Enrichment	COL1A1	1.81
1172	Aortic valve disease 2	Enrichment	SMAD6	1.81
1173	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1	1.81
1174	Radioulnar synostosis	Enrichment	SMAD6	1.81
1175	Campomelic dysplasia and related disorders	Enrichment	SOX9	1.81
1176	Microcephaly	Enrichment	ABL1, MAPK1, PSMC3, SATB2	1.80
1177	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB1	1.80
1178	Autism	Enrichment	TCF7L2	1.80
1179	Retinoblastoma	Enrichment	RB1	1.79
1180	Woolly hair, autosomal recessive 3	Enrichment	RB1	1.79
1181	Hypotrichosis 8	Enrichment	RB1	1.79
1182	Pervasive developmental disorder	Enrichment	FBXW7	1.79
1183	Rare pervasive developmental disorder	Enrichment	FBXW7	1.79
1184	Neurofibromatosis-noonan syndrome	Enrichment	NF1	1.79
1185	Epidermolytic nevus	Enrichment	HRAS	1.79
1186	Glioma	Enrichment	PTEN	1.79
1187	Developmental dysplasia of the hip 1	Enrichment	PSMC3	1.79
1188	Thrombocythemia 1	Enrichment	CALR	1.79
1189	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	1.79
1190	Yuan-harel-lupski syndrome	Enrichment	RAI1	1.79
1191	Carnitine palmitoyltransferase i deficiency	Enrichment	CPT1A	1.79
1192	Developmental and epileptic encephalopathy 30	Enrichment	SIK1	1.79
1193	Overgrowth syndrome	Enrichment	PIK3R1	1.79
1194	Cardiomyopathy, dilated, 1a	Enrichment	NFATC2	1.77
1195	Hirschsprung disease 1	Enrichment	IHH	1.77
1196	Clear cell renal cell carcinoma	Enrichment	ATM	1.77
1197	Systemic lupus erythematosus	Enrichment	SPP1	1.77
1198	West syndrome	Enrichment	GNAO1, PLCB1	1.76
1199	Hereditary spastic paraplegia	Enrichment	ERLIN1, ERLIN2	1.76
1200	Brachydactyly, type a2	Enrichment	BMP2	1.76
1201	Saethre-chotzen syndrome	Enrichment	TWIST1	1.76
1202	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	1.76
1203	Non-syndromic bicoronal craniosynostosis	Enrichment	TWIST1	1.76
1204	Mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies	Enrichment	WNT4	1.76
1205	Osteoporosis, juvenile	Enrichment	WNT1	1.76
1206	Dandy-walker syndrome	Enrichment	PPP1CB	1.76
1207	Skin disease	Enrichment	NCSTN	1.75
1208	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	1.74
1209	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	1.74
1210	Developmental and epileptic encephalopathy 12	Enrichment	PLCB1	1.74
1211	Achromatopsia 4	Enrichment	GNAT2	1.74
1212	Familial sick sinus syndrome	Enrichment	GNB2	1.74
1213	Diamond-blackfan anemia	Enrichment	TP53	1.73
1214	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	1.73
1215	Temporal arteritis	Enrichment	HLA-B	1.73
1216	Mycosis fungoides	Enrichment	TNFRSF1B	1.72
1217	Immunodeficiency 98 with autoinflammation, x-linked	Enrichment	FASLG	1.72
1218	Tooth agenesis, selective, 2	Enrichment	EDA	1.72
1219	Saczary syndrome	Enrichment	TNFRSF1B	1.72
1220	Dementia, lewy body	Enrichment	VCP	1.72
1221	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.72
1222	Hyperlipidemia, familial combined, 3	Enrichment	LDLR	1.72
1223	Tobacco addiction	Enrichment	SLC6A3	1.72
1224	Autosomal recessive chorioretinopathy-microcephaly syndrome	Enrichment	TUBGCP6	1.72
1225	Complex hereditary spastic paraplegia	Enrichment	PRKN	1.72
1226	Dermatitis, atopic	Enrichment	KCNJ11	1.72
1227	Newborn respiratory distress syndrome	Enrichment	ABCC8	1.72
1228	Idiopathic bronchiectasis	Enrichment	CFTR	1.72
1229	Mesothelioma, malignant	Enrichment	BAP1	1.72
1230	Methylmalonic aciduria and homocystinuria, cblx type	Enrichment	HCFC1	1.72
1231	Tumor predisposition syndrome 1	Enrichment	BAP1	1.72
1232	Neurodevelopmental disorder with progressive spasticity and brain abnormalities	Enrichment	RUVBL1	1.72
1233	Bap1 tumor predisposition syndrome	Enrichment	BAP1	1.72
1234	Wilms tumor 5	Enrichment	CHEK2	1.71
1235	Fanconi anemia, complementation group d2	Enrichment	VHL	1.71
1236	Macular degeneration, age-related, 2	Enrichment	ABCA4	1.70
1237	Retinitis pigmentosa 1	Enrichment	ABCA4	1.70
1238	Bietti crystalline corneoretinal dystrophy	Enrichment	ABCA4	1.70
1239	Retinitis pigmentosa 19	Enrichment	ABCA4	1.70
1240	Age related macular degeneration	Enrichment	ABCA4	1.70
1241	Renal cell carcinoma, papillary, 1	Enrichment	ATM	1.70
1242	Capillary malformations, congenital	Enrichment	RASA1	1.70
1243	Macrocephaly/autism syndrome	Enrichment	PTEN	1.70
1244	Hemangioma	Enrichment	PTEN	1.70
1245	Basal cell nevus syndrome 1	Enrichment	SUFU	1.69
1246	Interstitial lung disease 2	Enrichment	PARN	1.68
1247	Lynch syndrome 4	Enrichment	RB1	1.67
1248	Ventricular septal defect 1	Enrichment	BMP2	1.67
1249	Budd-chiari syndrome	Enrichment	CALR	1.66
1250	Developmental and epileptic encephalopathy 1	Enrichment	CSNK1E	1.66
1251	Infantile sialic acid storage disease	Enrichment	RAG2	1.65
1252	Salla disease	Enrichment	RAG2	1.65
1253	Multicystic kidney dysplasia	Enrichment	FZD3	1.65
1254	Multicystic dysplastic kidney	Enrichment	FZD3	1.65
1255	Eye disease	Enrichment	ABCA4, ABCC6	1.65
1256	Albinism, oculocutaneous, type ii	Enrichment	PDE6B	1.64
1257	Cowden syndrome 1	Enrichment	LDLR	1.64
1258	Myelofibrosis	Enrichment	SRC	1.64
1259	46,xx sex reversal 1	Enrichment	SOX9	1.63
1260	Glass syndrome	Enrichment	SATB2	1.63
1261	Caffey disease	Enrichment	COL1A1	1.63
1262	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	1.63
1263	High bone mass osteogenesis imperfecta	Enrichment	COL1A1	1.63
1264	Idiopathic aplastic anemia	Enrichment	IFNG	1.63
1265	Moyamoya angiopathy	Enrichment	AGMAT	1.63
1266	Congenital myopathy	Enrichment	EXOSC3	1.63
1267	Dyskeratosis congenita	Enrichment	PARN	1.63
1268	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PRKN	1.62
1269	Chromosome 15q11.2 deletion syndrome	Enrichment	TUBG1	1.62
1270	Parkin type of early-onset parkinson disease	Enrichment	PRKN	1.62
1271	Polyhydramnios	Enrichment	ABCC8	1.62
1272	Klippel-trenaunay-weber syndrome	Enrichment	RASA1	1.62
1273	Basal cell carcinoma 1	Enrichment	RASA1	1.62
1274	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	1.62
1275	Pierpont syndrome	Enrichment	TBL1XR1	1.61
1276	Potocki-lupski syndrome	Enrichment	RAI1	1.61
1277	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	1.61
1278	Melanoma of soft tissue	Enrichment	CREB1	1.61
1279	Distal arthrogryposis	Enrichment	FZD3, ROR2	1.61
1280	Visceral heterotaxy 5	Enrichment	CITED2	1.60
1281	Nephrotic syndrome	Enrichment	RUNX2	1.60
1282	Lymphoproliferative syndrome 2	Enrichment	CD27	1.60
1283	Chondrocalcinosis 2	Enrichment	TNFRSF11B	1.60
1284	Intellectual developmental disorder, autosomal dominant 1	Enrichment	MBD5	1.59
1285	Aminoacylase 1 deficiency	Enrichment	ACTB	1.59
1286	Chronic myelomonocytic leukemia	Enrichment	ASXL1	1.59
1287	Systemic mastocytosis with associated hematologic neoplasm	Enrichment	ASXL1	1.59
1288	Familial adenomatous polyposis 1	Enrichment	APC	1.59
1289	Immune deficiency disease	Enrichment	SYK	1.59
1290	Atrial septal defect 1	Enrichment	BMP2	1.59
1291	Chronic mucocutaneous candidiasis	Enrichment	STAT1	1.59
1292	Autosomal dominant cerebellar ataxia	Enrichment	OPA1	1.58
1293	Retinitis pigmentosa 91	Enrichment	ABCA4	1.58
1294	Vitreoretinopathy	Enrichment	ABCA4	1.58
1295	Vitamin d-dependent rickets, type 2a	Enrichment	TRB	1.57
1296	Multisystem inflammatory syndrome in children	Enrichment	TRAF3	1.56
1297	Combined pituitary hormone deficiency	Enrichment	GLI2	1.56
1298	Free sialic acid storage disorder	Enrichment	RAG2	1.56
1299	Congenital long qt syndrome	Enrichment	ITPR3	1.55
1300	Machado-joseph disease	Enrichment	ATXN3	1.55
1301	Cholestasis, progressive familial intrahepatic, 1	Enrichment	ABCB4	1.55
1302	Kleefstra syndrome 1	Enrichment	ABCC9	1.55
1303	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	1.54
1304	Early myoclonic encephalopathy	Enrichment	TUBA1A	1.54
1305	Cone-rod dystrophy 2	Enrichment	ITGA4	1.53
1306	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1	1.51
1307	Phenylketonuria	Enrichment	COL1A1	1.51
1308	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	1.51
1309	Congenital blue dot cataract	Enrichment	MAF	1.51
1310	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1	1.51
1311	2q23.1 microduplication syndrome	Enrichment	MBD5	1.50
1312	Ewing sarcoma	Enrichment	NF1	1.50
1313	Congenital anomalies of kidney and urinary tract 1	Enrichment	TRAP1	1.49
1314	Diabetes insipidus	Enrichment	AVP	1.49
1315	Multiple sclerosis	Enrichment	ITPR1	1.49
1316	46,xy partial gonadal dysgenesis	Enrichment	SOS1	1.49
1317	Macular degeneration	Enrichment	ABCA4	1.48
1318	Autoinflammatory disease	Enrichment	PSMB8	1.48
1319	Hemochromatosis, type 1	Enrichment	BMP2	1.46
1320	Optic atrophy plus syndrome	Enrichment	ABCA4, ABCC6	1.46
1321	Hemihyperplasia, isolated	Enrichment	RHOA	1.46
1322	Anterior segment dysgenesis	Enrichment	ITPR1	1.46
1323	Fetal akinesia deformation sequence 1	Enrichment	ROR2	1.46
1324	Leukemia, acute lymphoblastic	Enrichment	CDKN2A	1.45
1325	Leukemia, acute lymphoblastic 3	Enrichment	NF1	1.44
1326	Hypothyroidism	Enrichment	GNB1	1.44
1327	Choreatic disease	Enrichment	GNAO1	1.44
1328	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	1.43
1329	Meningioma, familial	Enrichment	SUFU	1.43
1330	Oligoarticular juvenile idiopathic arthritis	Enrichment	CD247	1.43
1331	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	CD247	1.43
1332	Hydrops fetalis, nonimmune	Enrichment	FLT4	1.42
1333	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	VCP	1.42
1334	Gastroesophageal reflux	Enrichment	ABCC8	1.42
1335	Fanconi anemia, complementation group c	Enrichment	ABCC9	1.42
1336	Melanoma, uveal	Enrichment	BAP1	1.42
1337	Inguinal hernia	Enrichment	ACTL6A	1.42
1338	Classic ehlers-danlos syndrome	Enrichment	TGFBR1	1.42
1339	Cryptorchidism	Enrichment	TUBA1A	1.42
1340	Nonsyndromic 46,xx testicular disorders/differences of sex development	Enrichment	SOX9	1.41
1341	Syndromic rod-cone dystrophy	Enrichment	ABCA4	1.41
1342	Developmental and epileptic encephalopathy 14	Enrichment	PLCB1	1.39
1343	Nk-cell enteropathy	Enrichment	CHEK2	1.38
1344	Renal cell carcinoma, nonpapillary	Enrichment	ATM	1.37
1345	Bronchiectasis with or without elevated sweat chloride 1	Enrichment	CFTR	1.37
1346	Vas deferens, congenital bilateral aplasia of	Enrichment	CFTR	1.37
1347	Juvenile amyotrophic lateral sclerosis	Enrichment	ERLIN1	1.37
1348	Short-rib thoracic dysplasia 1 with or without polydactyly	Enrichment	ABCG5	1.37
1349	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	1.37
1350	Mitochondrial dna depletion syndrome 4a	Enrichment	EDAR	1.36
1351	Diaphragmatic hernia, congenital	Enrichment	GLI3	1.36
1352	Undetermined early-onset epileptic encephalopathy	Enrichment	PPP3CA	1.35
1353	Achromatopsia	Enrichment	GNAT2	1.35
1354	Digeorge syndrome	Enrichment	SEC24C	1.35
1355	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1	1.34
1356	Pierre robin syndrome	Enrichment	SOX9	1.34
1357	Keratoconus	Enrichment	COL1A1	1.34
1358	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	PSEN1	1.34
1359	Aplastic anemia	Enrichment	IFNG	1.34
1360	Migraine with or without aura 1	Enrichment	ESR1	1.33
1361	Wilms tumor 1	Enrichment	CHEK2	1.32
1362	Melanoma, cutaneous malignant 1	Enrichment	CDK4	1.32
1363	Epilepsy, childhood absence 1	Enrichment	RORB	1.32
1364	Hypercholesterolemia, familial, 1	Enrichment	LDLR	1.31
1365	Movement disease	Enrichment	GNAO1	1.31
1366	Narcolepsy 1	Enrichment	TNFSF4	1.30
1367	Mitochondrial dna depletion syndrome 4b	Enrichment	EDAR	1.30
1368	Asthma	Enrichment	HLA-G	1.29
1369	Myoclonic epilepsy of unverricht and lundborg	Enrichment	PRICKLE1	1.29
1370	Stereotypic movement disorder	Enrichment	SYNGAP1	1.29
1371	Protein-deficiency anemia	Enrichment	NRAS	1.29
1372	Atrial heart septal defect	Enrichment	ABCC8	1.29
1373	Diabetes mellitus	Enrichment	KCNJ11	1.29
1374	Interatrial communication	Enrichment	ABCC8	1.29
1375	Pheochromocytoma	Enrichment	VHL	1.27
1376	Osteogenesis imperfecta, type ii	Enrichment	COL1A1	1.27
1377	Leber plus disease	Enrichment	TEAD3	1.26
1378	Hydrocephalus	Enrichment	FZD3	1.26
1379	Primary biliary cholangitis	Enrichment	TNFSF15	1.25
1380	Osteogenesis imperfecta, type iii	Enrichment	MBTPS2	1.25
1381	Familial hypercholesterolemia	Enrichment	LDLR	1.25
1382	Congenital hypothyroidism	Enrichment	TUBB1	1.25
1383	Epicanthus	Enrichment	ABCC9	1.25
1384	Cutis laxa	Enrichment	ABCC6	1.25
1385	Mhc class ii deficiency 1	Enrichment	TAP2	1.23
1386	Male infertility with spermatogenesis disorder	Enrichment	SPRED1	1.23
1387	Centronuclear myopathy	Enrichment	OPA1	1.22
1388	Cataract - microcornea syndrome	Enrichment	MAF	1.22
1389	Difference of sex development	Enrichment	AR	1.22
1390	Benign epilepsy with centrotemporal spikes	Enrichment	PLCB1, PRICKLE1	1.21
1391	Spastic ataxia	Enrichment	EXOSC8	1.19
1392	Hereditary chronic pancreatitis	Enrichment	CFTR	1.19
1393	Centralopathic epilepsy	Enrichment	PLCB1, PRICKLE1	1.18
1394	Combined immunodeficiency	Enrichment	CD27	1.17
1395	Combined t cell and b cell immunodeficiency	Enrichment	CD27	1.17
1396	Combined t and b cell immunodeficiency	Enrichment	CD27	1.17
1397	Polydactyly	Enrichment	SMAD6	1.17
1398	Pectus excavatum	Enrichment	TGFBR1	1.17
1399	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	VCP	1.15
1400	Epilepsy, idiopathic generalized	Enrichment	ABCB1	1.15
1401	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	AR, GLI2	1.15
1402	Retinitis pigmentosa	Enrichment	PDE6A, PDE6B, PDE6G	1.14
1403	Auditory neuropathy	Enrichment	OPA1	1.13
1404	Wolff-parkinson-white syndrome	Enrichment	ABCC9	1.13
1405	Autosomal recessive non-syndromic intellectual disability	Enrichment	ABCA2	1.13
1406	Hypertension, essential	Enrichment	GNB3	1.13
1407	Cleft palate, isolated	Enrichment	GNB1	1.13
1408	Cataract 30, multiple types	Enrichment	MAF	1.12
1409	Primary bone dysplasia	Enrichment	COL1A1	1.12
1410	Pancreatitis, hereditary	Enrichment	CFTR	1.11
1411	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	VHL	1.10
1412	Early infantile developmental and epileptic encephalopathy	Enrichment	GNAO1	1.10
1413	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ROR1	1.09
1414	Osteochondrodysplasia	Enrichment	COL1A1	1.08
1415	Specific learning disability	Enrichment	MAPK1	1.08
1416	Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay	Enrichment	CASK	1.08
1417	Hydrocephalus, congenital, 1	Enrichment	TUBB	1.08
1418	Malaria	Enrichment	IKBKG	1.08
1419	Primary ovarian insufficiency	Enrichment	NOTCH2	1.08
1420	Stargardt disease 1	Enrichment	OPA1	1.07
1421	Behcet syndrome	Enrichment	HLA-B	1.07
1422	Attention deficit-hyperactivity disorder	Enrichment	GNB5	1.02
1423	Isolated joubert syndrome	Enrichment	SUFU	1.00
1424	Pulmonary disease, chronic obstructive	Enrichment	BMAL2	0.99
1425	Acute promyelocytic leukemia	Enrichment	TBL1XR1	0.99
1426	Cone dystrophy	Enrichment	GNAT2	0.98
1427	Severe covid-19	Enrichment	SEC23B	0.98
1428	Familial atrial fibrillation	Enrichment	ABCC9	0.96
1429	Strabismus	Enrichment	GNB1	0.93
1430	Brugada syndrome	Enrichment	ABCC9	0.93
1431	Charcot-marie-tooth disease	Enrichment	HSPB1	0.91
1432	Brittle bone disorder	Enrichment	WNT1	0.90
1433	Ear malformation	Enrichment	CDC14A	0.90
1434	Fanconi anemia, complementation group a	Enrichment	VHL	0.89
1435	Developmental and epileptic encephalopathy	Enrichment	SEC24C	0.89
1436	Syndromic intellectual disability	Enrichment	RAI1	0.88
1437	Dystonia	Enrichment	GNB1	0.83
1438	Male infertility	Enrichment	CFTR	0.82
1439	Cakut	Enrichment	TRAP1	0.77
1440	Non-syndromic x-linked intellectual disability	Enrichment	CASK	0.75
1441	Mitochondrial disease	Enrichment	OPA1	0.64
1442	Sensorineural hearing loss	Enrichment	CDC14A	0.63
1443	Schizophrenia	Enrichment	PRKN	0.61
1444	Epilepsy	Enrichment	RORB	0.55
1445	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ABCC1	0.53
1446	Dilated cardiomyopathy	Enrichment	TAB2	0.50
1447	Hypertelorism	Enrichment	COL1A1	0.47
1448	Rare genetic deafness	Enrichment	CDC14A	0.44

¹ WikiPathways

² PubChem

³ R&D Systems

⁴ Reactome

⁵ GeneGo (Thomson Reuters)

⁶ QIAGEN

⁷ PharmGKB

⁸ Cell Signaling Technology

⁹ Sino Biological

¹⁰ Tocris

¹¹ MalaCards

Regulation of activated PAK-2p34 by proteasome mediated degradation

Pathway Network for Regulation of activated PAK-2p34 by proteasome mediated degradation

Pathway network for the Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

Member Pathways for Regulation of activated PAK-2p34 by proteasome mediated degradation

Pathways in the Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

Associated Genes for Regulation of activated PAK-2p34 by proteasome mediated degradation

Associated Disorders for Regulation of activated PAK-2p34 by proteasome mediated degradation

Disorders associated with Regulation of activated PAK-2p34 by proteasome mediated degradation SuperPath

STRING Interaction Network for Regulation of activated PAK-2p34 by proteasome mediated degradation

Sources for Regulation of activated PAK-2p34 by proteasome mediated degradation