Cellular responses to stimuli

No Pathway Network information available for Cellular responses to stimuli

Pathways in the Cellular responses to stimuli SuperPath

#	Name	Source	Genes
1	Cellular responses to stimuli	Reactome	AAAS ABCC1 ABCC3 ABCF2 ABCG2 ABL1 ACADVL ACD ACTR10 ACTR1A ADCY1 ADCY2 ADCY3 ADCY4 ADCY5 ADCY6 ADCY7 ADCY8 ADCY9 ADM ADRM1 AGO1 AGO3 AGO4 AJUBA AKT1 AKT1S1 AKT2 AKT3 ALB AMER1 ANAPC1 ANAPC10 ANAPC11 ANAPC15 ANAPC16 ANAPC2 ANAPC4 ANAPC5 ANAPC7 ANXA2 APOA1 APOB AQP8 AR AREG ARFGAP1 ARNT ASF1A ASNS ATF2 ATF3 ATF4 ATF5 ATF6 ATF6B ATM ATOX1 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0D2 ATP6V0E1 ATP6V0E2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C1 ATP6V1C2 ATP6V1D ATP6V1E1 ATP6V1E2 ATP6V1F ATP6V1G1 ATP6V1G2 ATP6V1G3 ATP6V1H ATP7A ATR BACH1 BAG1 BAG2 BAG3 BAG5 BCL2 BCL2L1 BLVRA BLVRB BMAL1 BMI1 BRCA1 BTRC CA9 CABIN1 CACNA1H CACNA2D1 CACNB1 CACNB2 CACNB3 CACNG7 CALCRL CALM1 CALM2 CALM3 CALR CAMK2A CAMK2B CAMK2D CAMK2G CAPN2 CAPNS1 CAPNS2 CAPZA1 CAPZA2 CAPZA3 CAPZB CARM1 CASTOR1 CASTOR2 CAT CBX2 CBX4 CBX6 CBX8 CCAR2 CCL2 CCNA1 CCNA2 CCNE1 CCNE2 CCS CDC16 CDC23 CDC26 CDC27 CDH5 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDKN2D CEBPB CEBPG CHAC1 CHD6 CHD9 CHUK CITED2 CLEC1B CLOCK COMMD3-BMI1 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7C COX8A COX8C COXFA4 CREB1 CREB3 CREB3L1 CREB3L2 CREB3L3 CREB3L4 CREBBP CREBRF CRTC1 CRTC2 CRTC3 CRYAB CSNK2A1 CSNK2A2 CSNK2B CSRP1 CTDSP2 CTNNB1 CUL1 CUL2 CUL3 CUL7 CXCL8 CXXC1 CYBA CYBB DCP2 DCSTAMP DCTN1 DCTN2 DCTN3 DCTN4 DCTN5 DCTN6 DDIT3 DDX11 DEFA5 DELE1 DEPDC5 DIS3 DNAJA1 DNAJA2 DNAJA4 DNAJB1 DNAJB11 DNAJB6 DNAJB9 DNAJC2 DNAJC3 DNAJC7 DPP3 DYNC1H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNLL1 DYNLL2 E2F1 E2F2 E2F3 EDEM1 EED EEF1A1 EGF EGLN1 EGLN2 EGLN3 EHMT1 EHMT2 EIF2AK1 EIF2AK3 EIF2AK4 EIF2S1 EIF2S2 EIF2S3 ELOB ELOC EP300 EP400 EPAS1 EPO ERF ERN1 ERO1A ESR1 ETS1 ETS2 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 EXTL1 EXTL2 EXTL3 EZH2 FABP1 FAU FBXL17 FKBP14 FKBP4 FKBP5 FLCN FLT4 FN1 FNIP1 FNIP2 FOS FOXO3 FYN FZR1 G6PD GCLC GCLM GCN1 GFPT1 GJA1 GNA11 GNAQ GNAS GNB1 GNB2 GNB3 GNB4 GNB5 GNG10 GNG11 GNG12 GNG13 GNG2 GNG3 GNG4 GNG5 GNG7 GNG8 GNGT1 GNGT2 GOSR2 GPX1 GPX2 GPX3 GPX5 GPX6 GPX7 GPX8 GRB10 GSK3A GSK3B GSR GSTA1 GSTA3 GSTP1 H2AB1 H2AC14 H2AC18 H2AC19 H2AC20 H2AC4 H2AC6 H2AC7 H2AC8 H2AJ H2AX H2AZ2 H2BC1 H2BC10 H2BC11 H2BC12 H2BC12L H2BC13 H2BC14 H2BC15 H2BC17 H2BC21 H2BC26 H2BC3 H2BC4 H2BC5 H2BC6 H2BC7 H2BC8 H2BC9 H3-3A H3-3B H3-4 H3C1 H3C10 H3C11 H3C12 H3C13 H3C14 H3C15 H3C2 H3C3 H3C4 H3C6 H3C7 H3C8 H4C1 H4C11 H4C12 H4C13 H4C14 H4C15 H4C16 H4C2 H4C3 H4C4 H4C5 H4C6 H4C8 H4C9 HBA1 HBA2 HBB HDAC3 HDAC6 HDGF HELZ2 HERPUD1 HIF1A HIF1AN HIF3A HIGD1A HIGD1C HIKESHI HIRA HM13 HMGA1 HMGA2 HMOX1 HMOX2 HSBP1 HSF1 HSP90AA1 HSP90AB1 HSP90B1 HSPA12A HSPA12B HSPA13 HSPA14 HSPA1A HSPA1B HSPA1L HSPA2 HSPA4 HSPA4L HSPA5 HSPA6 HSPA8 HSPA9 HSPB8 HSPD1 HSPE1 HSPG2 HSPH1 HTRA2 HYOU1 ID1 IDH1 IFNB1 IGFBP1 IGFBP7 IKBKB IKBKE IKBKG IL1A IL6 IMPACT ITFG2 ITGA5 ITGAV ITGB1 ITGB3 JUN KAT5 KDELR3 KDM6B KDR KEAP1 KHSRP KICS2 KLHDC3 KPTN LAMTOR1 LAMTOR2 LAMTOR3 LAMTOR4 LAMTOR5 LIMD1 LMNA LMNB1 LONP1 LY96 MAFG MAFK MAP1LC3B MAP2K3 MAP2K4 MAP2K6 MAP2K7 MAP3K5 MAP4K4 MAPK1 MAPK10 MAPK11 MAPK14 MAPK3 MAPK7 MAPK8 MAPK9 MAPKAP1 MAPKAPK2 MAPKAPK3 MAPKAPK5 MBTPS1 MBTPS2 MDM2 MDM4 ME1 MED1 MEF2C MEF2D MINK1 MIOS MLST8 MMP14 MOV10 MRE11 MT-CO1 MT-CO2 MT-CO3 MT1A MT1B MT1E MT1F MT1G MT1H MT1M MT1X MT2A MT3 MT4 MTF1 MTOR MUL1 MYC MYDGF NBN NCF1 NCF2 NCF4 NCOA1 NCOA2 NCOA6 NCOR1 NCOR2 NDC1 NFE2L2 NFKB1 NFKBIA NFYA NFYB NFYC NLRP3 NOS3 NOTCH1 NOX4 NOX5 NPAS2 NPLOC4 NPRL2 NPRL3 NQO1 NR1D1 NR3C1 NR3C2 NRF1 NRIP1 NUDT2 NUP107 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP214 NUP35 NUP37 NUP42 NUP43 NUP50 NUP54 NUP58 NUP62 NUP85 NUP88 NUP93 NUP98 OMA1 P2RX7 P2RY2 P4HB PALB2 PANX1 PARN PDE4D PDGFA PDIA5 PDIA6 PDPK1 PECAM1 PGD PGR PGRMC2 PHB2 PHC1 PHC2 PHC3 PIEZO1 PIK3CA PIK3CB PIK3CD PIK3R2 PKN2 PLA2G4B POM121 POT1 PPARA PPARGC1A PPP1R15A PPP2CA PPP2R1A PPP2R1B PPP2R2A PPP2R5B PRDX1 PRDX2 PRDX3 PRDX5 PRDX6 PREB PRKAA2 PRKACA PRKACB PRKACG PRKAR1A PRKAR1B PRKAR2A PRKAR2B PRKCD PRKCI PRR5 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 PTGES3 PTK2 PTK6 PTPN1 RAD50 RAE1 RAI1 RAMP2 RANBP2 RB1 RBBP4 RBBP7 RBX1 RELA RHEB RICTOR RING1 RNF2 RORA RPA1 RPA2 RPA3 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS19BP1 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS7 RPS8 RPS9 RPSA RPTOR RRAGA RRAGB RRAGC RRAGD RXRA SAMTOR SCMH1 SEC13 SEC31A SEH1L SEM1 SERP1 SESN1 SESN2 SH3BP4 SHC1 SIN3A SIN3B SIRT1 SIRT3 SKP1 SKP2 SLC38A9 SLC46A1 SLC7A11 SMARCD3 SNCB SOD1 SOD2 SOD3 SP1 SPP1 SQSTM1 SRPRA SRPRB SRXN1 SSR1 ST13 STAP2 STAT1 STAT3 STIP1 STOML2 SULT1A3 SULT1A4 SUZ12 SYVN1 SZT2 TALDO1 TATDN2 TBL1X TBL1XR1 TCIRG1 TERF1 TERF2 TERF2IP TFDP1 TFDP2 TGS1 TINF2 TKT TLN1 TLR4 TNIK TNRC6A TNRC6B TNRC6C TP53 TPP1 TPR TRIB3 TRIM21 TRPV4 TSPYL2 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TXN TXN2 TXNIP TXNRD1 TXNRD2 UBA52 UBB UBC UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2S UBN1 UBXN7 UFD1 VCL VCP VEGFA VENTX VHL WDR24 WDR59 WFS1 WIPI1 WTIP XBP1 XPO1 YAP1 YIF1A YME1L1 YWHAE ZBTB17 (see all 902) (see less)
2	Cellular responses to stress	Reactome	AAAS ABCC1 ABCC3 ABCF2 ABCG2 ACADVL ACD ACTR10 ACTR1A ADRM1 AGO1 AGO3 AGO4 AJUBA AKT1 AKT1S1 AKT2 AKT3 ALB AMER1 ANAPC1 ANAPC10 ANAPC11 ANAPC15 ANAPC16 ANAPC2 ANAPC4 ANAPC5 ANAPC7 APOA1 APOB AQP8 AR AREG ARFGAP1 ARNT ASF1A ASNS ATF2 ATF3 ATF4 ATF5 ATF6 ATF6B ATM ATOX1 ATP6V0B ATP6V0C ATP6V0D1 ATP6V0D2 ATP6V0E1 ATP6V0E2 ATP6V1A ATP6V1B1 ATP6V1B2 ATP6V1C1 ATP6V1C2 ATP6V1D ATP6V1E1 ATP6V1E2 ATP6V1F ATP6V1G1 ATP6V1G2 ATP6V1G3 ATP6V1H ATP7A ATR BACH1 BAG1 BAG2 BAG3 BAG5 BCL2 BCL2L1 BLVRA BLVRB BMAL1 BMI1 BRCA1 BTRC CA9 CABIN1 CALR CAMK2A CAMK2B CAMK2D CAMK2G CAPZA1 CAPZA2 CAPZA3 CAPZB CARM1 CASTOR1 CASTOR2 CAT CBX2 CBX4 CBX6 CBX8 CCAR2 CCL2 CCNA1 CCNA2 CCNE1 CCNE2 CCS CDC16 CDC23 CDC26 CDC27 CDK2 CDK4 CDK6 CDKN1A CDKN1B CDKN2A CDKN2B CDKN2C CDKN2D CEBPB CEBPG CHAC1 CHD6 CHD9 CITED2 CLEC1B CLOCK COMMD3-BMI1 COX4I1 COX4I2 COX5A COX5B COX6A1 COX6A2 COX6B1 COX6B2 COX6C COX7A1 COX7A2 COX7A2L COX7B COX7C COX8A COX8C COXFA4 CREB1 CREB3 CREB3L1 CREB3L2 CREB3L3 CREB3L4 CREBBP CREBRF CRTC1 CRTC2 CRTC3 CRYAB CSNK2A1 CSNK2A2 CSNK2B CTDSP2 CUL1 CUL2 CUL3 CUL7 CXCL8 CXXC1 CYBA CYBB DCP2 DCSTAMP DCTN1 DCTN2 DCTN3 DCTN4 DCTN5 DCTN6 DDIT3 DDX11 DEFA5 DELE1 DEPDC5 DIS3 DNAJA1 DNAJA2 DNAJA4 DNAJB1 DNAJB11 DNAJB6 DNAJB9 DNAJC2 DNAJC3 DNAJC7 DPP3 DYNC1H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNLL1 DYNLL2 E2F1 E2F2 E2F3 EDEM1 EED EEF1A1 EGF EGLN1 EGLN2 EGLN3 EHMT1 EHMT2 EIF2AK1 EIF2AK3 EIF2AK4 EIF2S1 EIF2S2 EIF2S3 ELOB ELOC EP300 EP400 EPAS1 EPO ERF ERN1 ERO1A ESR1 ETS1 ETS2 EXOSC1 EXOSC2 EXOSC3 EXOSC4 EXOSC5 EXOSC6 EXOSC7 EXOSC8 EXOSC9 EXTL1 EXTL2 EXTL3 EZH2 FABP1 FAU FBXL17 FKBP14 FKBP4 FKBP5 FLCN FNIP1 FNIP2 FOS FOXO3 FZR1 G6PD GCLC GCLM GCN1 GFPT1 GOSR2 GPX1 GPX2 GPX3 GPX5 GPX6 GPX7 GPX8 GRB10 GSK3A GSK3B GSR GSTA1 GSTA3 GSTP1 H2AB1 H2AC14 H2AC18 H2AC19 H2AC20 H2AC4 H2AC6 H2AC7 H2AC8 H2AJ H2AX H2AZ2 H2BC1 H2BC10 H2BC11 H2BC12 H2BC12L H2BC13 H2BC14 H2BC15 H2BC17 H2BC21 H2BC26 H2BC3 H2BC4 H2BC5 H2BC6 H2BC7 H2BC8 H2BC9 H3-3A H3-3B H3-4 H3C1 H3C10 H3C11 H3C12 H3C13 H3C14 H3C15 H3C2 H3C3 H3C4 H3C6 H3C7 H3C8 H4C1 H4C11 H4C12 H4C13 H4C14 H4C15 H4C16 H4C2 H4C3 H4C4 H4C5 H4C6 H4C8 H4C9 HBA1 HBA2 HBB HDAC3 HDAC6 HDGF HELZ2 HERPUD1 HIF1A HIF1AN HIF3A HIGD1A HIGD1C HIKESHI HIRA HM13 HMGA1 HMGA2 HMOX1 HMOX2 HSBP1 HSF1 HSP90AA1 HSP90AB1 HSP90B1 HSPA12A HSPA12B HSPA13 HSPA14 HSPA1A HSPA1B HSPA1L HSPA2 HSPA4 HSPA4L HSPA5 HSPA6 HSPA8 HSPA9 HSPB8 HSPD1 HSPE1 HSPH1 HTRA2 HYOU1 ID1 IDH1 IFNB1 IGFBP1 IGFBP7 IL1A IL6 IMPACT ITFG2 JUN KAT5 KDELR3 KDM6B KEAP1 KHSRP KICS2 KLHDC3 KPTN LAMTOR1 LAMTOR2 LAMTOR3 LAMTOR4 LAMTOR5 LIMD1 LMNA LMNB1 LONP1 LY96 MAFG MAFK MAP1LC3B MAP2K3 MAP2K4 MAP2K6 MAP2K7 MAP3K5 MAP4K4 MAPK1 MAPK10 MAPK11 MAPK14 MAPK3 MAPK7 MAPK8 MAPK9 MAPKAPK2 MAPKAPK3 MAPKAPK5 MBTPS1 MBTPS2 MDM2 MDM4 ME1 MED1 MEF2C MEF2D MINK1 MIOS MLST8 MOV10 MRE11 MT-CO1 MT-CO2 MT-CO3 MTOR MUL1 MYC MYDGF NBN NCF1 NCF2 NCF4 NCOA1 NCOA2 NCOA6 NCOR1 NCOR2 NDC1 NFE2L2 NFKB1 NFYA NFYB NFYC NLRP3 NOTCH1 NOX4 NOX5 NPAS2 NPLOC4 NPRL2 NPRL3 NQO1 NR1D1 NR3C1 NR3C2 NRF1 NRIP1 NUDT2 NUP107 NUP133 NUP153 NUP155 NUP160 NUP188 NUP205 NUP210 NUP214 NUP35 NUP37 NUP42 NUP43 NUP50 NUP54 NUP58 NUP62 NUP85 NUP88 NUP93 NUP98 OMA1 P4HB PALB2 PARN PDGFA PDIA5 PDIA6 PGD PGR PGRMC2 PHB2 PHC1 PHC2 PHC3 PLA2G4B POM121 POT1 PPARA PPARGC1A PPP1R15A PPP2R5B PRDX1 PRDX2 PRDX3 PRDX5 PRDX6 PREB PRKAA2 PRKCD PRKCI 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 PTGES3 PTK6 RAD50 RAE1 RAI1 RANBP2 RB1 RBBP4 RBBP7 RBX1 RELA RHEB RING1 RNF2 RORA RPA1 RPA2 RPA3 RPL10 RPL10A RPL10L RPL11 RPL12 RPL13 RPL13A RPL14 RPL15 RPL17 RPL18 RPL18A RPL19 RPL21 RPL22 RPL22L1 RPL23 RPL23A RPL24 RPL26 RPL26L1 RPL27 RPL27A RPL28 RPL29 RPL3 RPL30 RPL31 RPL32 RPL34 RPL35 RPL35A RPL36 RPL36A RPL36AL RPL37 RPL37A RPL38 RPL39 RPL39L RPL3L RPL4 RPL41 RPL5 RPL6 RPL7 RPL7A RPL8 RPL9 RPLP0 RPLP1 RPLP2 RPS10 RPS11 RPS12 RPS13 RPS14 RPS15 RPS15A RPS16 RPS17 RPS18 RPS19 RPS19BP1 RPS2 RPS20 RPS21 RPS23 RPS24 RPS25 RPS26 RPS27 RPS27A RPS27L RPS28 RPS29 RPS3 RPS3A RPS4X RPS4Y1 RPS4Y2 RPS5 RPS6 RPS6KA1 RPS6KA2 RPS6KA3 RPS7 RPS8 RPS9 RPSA RPTOR RRAGA RRAGB RRAGC RRAGD RXRA SAMTOR SCMH1 SEC13 SEC31A SEH1L SEM1 SERP1 SESN1 SESN2 SH3BP4 SHC1 SIN3A SIN3B SIRT1 SIRT3 SKP1 SKP2 SLC38A9 SLC46A1 SLC7A11 SMARCD3 SOD1 SOD2 SOD3 SP1 SQSTM1 SRPRA SRPRB SRXN1 SSR1 ST13 STAP2 STAT3 STIP1 STOML2 SULT1A3 SULT1A4 SUZ12 SYVN1 SZT2 TALDO1 TATDN2 TBL1X TBL1XR1 TCIRG1 TERF1 TERF2 TERF2IP TFDP1 TFDP2 TGS1 TINF2 TKT TLN1 TLR4 TNIK TNRC6A TNRC6B TNRC6C TP53 TPP1 TPR TRIB3 TRIM21 TSPYL2 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TXN TXN2 TXNIP TXNRD1 TXNRD2 UBA52 UBB UBC UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2E1 UBE2S UBN1 UBXN7 UFD1 VCP VEGFA VENTX VHL WDR24 WDR59 WFS1 WIPI1 WTIP XBP1 XPO1 YIF1A YME1L1 YWHAE ZBTB17 (see all 790) (see less)

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

#	Symbol	Description	Category	# Related Pathways
1	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	2
2	HDAC6	Histone Deacetylase 6	Protein Coding	2
3	PLA2G4B	Phospholipase A2 Group IVB	Protein Coding	2
4	DNAJB6	DnaJ Heat Shock Protein Family (Hsp40) Member B6	Protein Coding	2
5	COMMD3-BMI1	COMMD3-BMI1 Readthrough	Protein Coding	2
6	ABCF2	ATP Binding Cassette Subfamily F Member 2	Protein Coding	2
7	DPP3	Dipeptidyl Peptidase 3	Protein Coding	2
8	CTDSP2	CTD Small Phosphatase 2	Protein Coding	2
9	RAD50	RAD50 Double Strand Break Repair Protein	Protein Coding	2
10	PREB	Prolactin Regulatory Element Binding	Protein Coding	2
11	ACTR1A	Actin Related Protein 1A	Protein Coding	2
12	PDIA6	Protein Disulfide Isomerase Family A Member 6	Protein Coding	2
13	CDK2	Cyclin Dependent Kinase 2	Protein Coding	2
14	CDK4	Cyclin Dependent Kinase 4	Protein Coding	2
15	CDK6	Cyclin Dependent Kinase 6	Protein Coding	2
16	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	2
17	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	2
18	CDKN1B	Cyclin Dependent Kinase Inhibitor 1B	Protein Coding	2
19	CDKN2A	Cyclin Dependent Kinase Inhibitor 2A	Protein Coding	2
20	DNAJA2	DnaJ Heat Shock Protein Family (Hsp40) Member A2	Protein Coding	2
21	CDKN2B	Cyclin Dependent Kinase Inhibitor 2B	Protein Coding	2
22	CDKN2C	Cyclin Dependent Kinase Inhibitor 2C	Protein Coding	2
23	TCIRG1	T Cell Immune Regulator 1, ATPase H+ Transporting V0 Subunit A3	Protein Coding	2
24	CDKN2D	Cyclin Dependent Kinase Inhibitor 2D	Protein Coding	2
25	RRAGB	Ras Related GTP Binding B	Protein Coding	2
26	CITED2	Cbp/P300 Interacting Transactivator With Glu/Asp Rich Carboxy-Terminal Domain 2	Protein Coding	2
27	TUBA1B	Tubulin Alpha 1b	Protein Coding	2
28	TUBB3	Tubulin Beta 3 Class III	Protein Coding	2
29	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	2
30	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	2
31	ANAPC10	Anaphase Promoting Complex Subunit 10	Protein Coding	2
32	PGRMC2	Progesterone Receptor Membrane Component 2	Protein Coding	2
33	CREB3	CAMP Responsive Element Binding Protein 3	Protein Coding	2
34	CARM1	Coactivator Associated Arginine Methyltransferase 1	Protein Coding	2
35	NCOA2	Nuclear Receptor Coactivator 2	Protein Coding	2
36	CEBPB	CCAAT Enhancer Binding Protein Beta	Protein Coding	2
37	KAT5	Lysine Acetyltransferase 5	Protein Coding	2
38	HYOU1	Hypoxia Up-Regulated 1	Protein Coding	2
39	CEBPG	CCAAT Enhancer Binding Protein Gamma	Protein Coding	2
40	DCTN2	Dynactin Subunit 2	Protein Coding	2
41	LAMTOR5	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 5	Protein Coding	2
42	TXNRD2	Thioredoxin Reductase 2	Protein Coding	2
43	TXNIP	Thioredoxin Interacting Protein	Protein Coding	2
44	NPRL2	NPR2 Like, GATOR1 Complex Subunit	Protein Coding	2
45	RRAGA	Ras Related GTP Binding A	Protein Coding	2
46	DCTN6	Dynactin Subunit 6	Protein Coding	2
47	PTGES3	Prostaglandin E Synthase 3	Protein Coding	2
48	YME1L1	YME1 Like 1 ATPase	Protein Coding	2
49	RAI1	Retinoic Acid Induced 1	Protein Coding	2
50	NUP50	Nucleoporin 50	Protein Coding	2
51	HSPH1	Heat Shock Protein Family H (Hsp110) Member 1	Protein Coding	2
52	PPARGC1A	PPARG Coactivator 1 Alpha	Protein Coding	2
53	YIF1A	Yip1 Interacting Factor Homolog A, Membrane Trafficking Protein	Protein Coding	2
54	EHMT2	Euchromatic Histone Lysine Methyltransferase 2	Protein Coding	2
55	PRDX3	Peroxiredoxin 3	Protein Coding	2
56	PDIA5	Protein Disulfide Isomerase Family A Member 5	Protein Coding	2
57	STIP1	Stress Induced Phosphoprotein 1	Protein Coding	2
58	GCN1	GCN1 Activator Of EIF2AK4	Protein Coding	2
59	KDELR3	KDEL Endoplasmic Reticulum Protein Retention Receptor 3	Protein Coding	2
60	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	2
61	UBE2C	Ubiquitin Conjugating Enzyme E2 C	Protein Coding	2
62	NUP42	Nucleoporin 42	Protein Coding	2
63	KPTN	Kaptin, Actin Binding Protein	Protein Coding	2
64	RPL35	Ribosomal Protein L35	Protein Coding	2
65	EGLN2	Egl-9 Family Hypoxia Inducible Factor 2	Protein Coding	2
66	EGLN3	Egl-9 Family Hypoxia Inducible Factor 3	Protein Coding	2
67	DCTN3	Dynactin Subunit 3	Protein Coding	2
68	TUBA3E	Tubulin Alpha 3e	Protein Coding	2
69	SLC46A1	Solute Carrier Family 46 Member 1	Protein Coding	2
70	PHB2	Prohibitin 2	Protein Coding	2
71	EXOSC8	Exosome Component 8	Protein Coding	2
72	TUBA3D	Tubulin Alpha 3d	Protein Coding	2
73	NLRP3	NLR Family Pyrin Domain Containing 3	Protein Coding	2
74	OMA1	OMA1 Zinc Metallopeptidase	Protein Coding	2
75	KLHDC3	Kelch Domain Containing 3	Protein Coding	2
76	RPL39L	Ribosomal Protein L39 Like	Protein Coding	2
77	HSPA12B	Heat Shock Protein Family A (Hsp70) Member 12B	Protein Coding	2
78	EXOSC6	Exosome Component 6	Protein Coding	2
79	ANAPC16	Anaphase Promoting Complex Subunit 16	Protein Coding	2
80	TPP1	Tripeptidyl Peptidase 1	Protein Coding	2
81	H4C16	H4 Histone 16	Protein Coding	2
82	COX6B2	Cytochrome C Oxidase Subunit 6B2	Protein Coding	2
83	WTIP	WT1 Interacting Protein	Protein Coding	2
84	H3C14	H3 Clustered Histone 14	Protein Coding	2
85	ATP6V1G3	ATPase H+ Transporting V1 Subunit G3	Protein Coding	2
86	H2BC26	H2B Clustered Histone 26	Protein Coding	2
87	NUP35	Nucleoporin 35	Protein Coding	2
88	COX4I1	Cytochrome C Oxidase Subunit 4I1	Protein Coding	2
89	COX5B	Cytochrome C Oxidase Subunit 5B	Protein Coding	2
90	COX6A1	Cytochrome C Oxidase Subunit 6A1	Protein Coding	2
91	COX6A2	Cytochrome C Oxidase Subunit 6A2	Protein Coding	2
92	COX6B1	Cytochrome C Oxidase Subunit 6B1	Protein Coding	2
93	COX6C	Cytochrome C Oxidase Subunit 6C	Protein Coding	2
94	COX7A1	Cytochrome C Oxidase Subunit 7A1	Protein Coding	2
95	COX7A2	Cytochrome C Oxidase Subunit 7A2	Protein Coding	2
96	COX7B	Cytochrome C Oxidase Subunit 7B	Protein Coding	2
97	COX7C	Cytochrome C Oxidase Subunit 7C	Protein Coding	2
98	COX8A	Cytochrome C Oxidase Subunit 8A	Protein Coding	2
99	CREB1	CAMP Responsive Element Binding Protein 1	Protein Coding	2
100	ATF2	Activating Transcription Factor 2	Protein Coding	2
101	CREBBP	CREB Binding Lysine Acetyltransferase	Protein Coding	2
102	ATF6B	Activating Transcription Factor 6 Beta	Protein Coding	2
103	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	2
104	RPS4Y2	Ribosomal Protein S4 Y-Linked 2	Protein Coding	2
105	DYNLL2	Dynein Light Chain LC8-Type 2	Protein Coding	2
106	RPL10L	Ribosomal Protein L10 Like	Protein Coding	2
107	SRXN1	Sulfiredoxin 1	Protein Coding	2
108	CRYAB	Crystallin Alpha B	Protein Coding	2
109	MAPK14	Mitogen-Activated Protein Kinase 14	Protein Coding	2
110	KICS2	KICSTOR Subunit 2	Protein Coding	2
111	CSNK2A1	Casein Kinase 2 Alpha 1	Protein Coding	2
112	CSNK2A2	Casein Kinase 2 Alpha 2	Protein Coding	2
113	CSNK2B	Casein Kinase 2 Beta	Protein Coding	2
114	CREB3L4	CAMP Responsive Element Binding Protein 3 Like 4	Protein Coding	2
115	SLC38A9	Solute Carrier Family 38 Member 9	Protein Coding	2
116	CREBRF	CREB3 Regulatory Factor	Protein Coding	2
117	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	2
118	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	2
119	SAMTOR	S-Adenosylmethionine Sensor Upstream Of MTORC1	Protein Coding	2
120	ATP6V0E2	ATPase H+ Transporting V0 Subunit E2	Protein Coding	2
121	DCTN1	Dynactin Subunit 1	Protein Coding	2
122	DDIT3	DNA Damage Inducible Transcript 3	Protein Coding	2
123	DDX11	DEAD/H-Box Helicase 11	Protein Coding	2
124	DEFA5	Defensin Alpha 5	Protein Coding	2
125	DCP2	Decapping MRNA 2	Protein Coding	2
126	NQO1	NAD(P)H Quinone Dehydrogenase 1	Protein Coding	2
127	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	2
128	DYNC1I1	Dynein Cytoplasmic 1 Intermediate Chain 1	Protein Coding	2
129	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	2
130	DYNC1LI2	Dynein Cytoplasmic 1 Light Intermediate Chain 2	Protein Coding	2
131	E2F1	E2F Transcription Factor 1	Protein Coding	2
132	E2F2	E2F Transcription Factor 2	Protein Coding	2
133	E2F3	E2F Transcription Factor 3	Protein Coding	2
134	PHC1	Polyhomeotic Homolog 1	Protein Coding	2
135	PHC2	Polyhomeotic Homolog 2	Protein Coding	2
136	EEF1A1	Eukaryotic Translation Elongation Factor 1 Alpha 1	Protein Coding	2
137	AGO3	Argonaute RISC Catalytic Component 3	Protein Coding	2
138	AGO4	Argonaute RISC Component 4	Protein Coding	2
139	EGF	Epidermal Growth Factor	Protein Coding	2
140	EIF2S1	Eukaryotic Translation Initiation Factor 2 Subunit Alpha	Protein Coding	2
141	EIF2S3	Eukaryotic Translation Initiation Factor 2 Subunit Gamma	Protein Coding	2
142	CRTC2	CREB Regulated Transcription Coactivator 2	Protein Coding	2
143	RPL22L1	Ribosomal Protein L22 Like 1	Protein Coding	2
144	FLCN	Folliculin	Protein Coding	2
145	EP300	EP300 Lysine Acetyltransferase	Protein Coding	2
146	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	2
147	EPO	Erythropoietin	Protein Coding	2
148	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	2
149	ERF	ETS2 Repressor Factor	Protein Coding	2
150	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	2
151	ERN1	Endoplasmic Reticulum To Nucleus Signaling 1	Protein Coding	2
152	ESR1	Estrogen Receptor 1	Protein Coding	2
153	ETS1	ETS Proto-Oncogene 1, Transcription Factor	Protein Coding	2
154	ETS2	ETS Proto-Oncogene 2, Transcription Factor	Protein Coding	2
155	ALB	Albumin	Protein Coding	2
156	EXTL1	Exostosin Like Glycosyltransferase 1	Protein Coding	2
157	EXTL2	Exostosin Like Glycosyltransferase 2	Protein Coding	2
158	EXTL3	Exostosin Like Glycosyltransferase 3	Protein Coding	2
159	EZH2	Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit	Protein Coding	2
160	FABP1	Fatty Acid Binding Protein 1	Protein Coding	2
161	FAU	FAU Ubiquitin Like And Ribosomal Protein S30 Fusion	Protein Coding	2
162	ATF5	Activating Transcription Factor 5	Protein Coding	2
163	HSPA4L	Heat Shock Protein Family A (Hsp70) Member 4 Like	Protein Coding	2
164	SEC31A	SEC31 Homolog A, COPII Component	Protein Coding	2
165	FKBP4	FKBP Prolyl Isomerase 4	Protein Coding	2
166	FKBP5	FKBP Prolyl Isomerase 5	Protein Coding	2
167	DIS3	DIS3 Exosome Endoribonuclease And 3''''-5'''' Exoribonuclease	Protein Coding	2
168	ATF6	Activating Transcription Factor 6	Protein Coding	2
169	SCMH1	Scm Polycomb Group Protein Homolog 1	Protein Coding	2
170	EXOSC7	Exosome Component 7	Protein Coding	2
171	TNIK	TRAF2 And NCK Interacting Kinase	Protein Coding	2
172	NCOA6	Nuclear Receptor Coactivator 6	Protein Coding	2
173	FOXO3	Forkhead Box O3	Protein Coding	2
174	TNRC6B	Trinucleotide Repeat Containing Adaptor 6B	Protein Coding	2
175	KDM6B	Lysine Demethylase 6B	Protein Coding	2
176	NUP205	Nucleoporin 205	Protein Coding	2
177	NUP210	Nucleoporin 210	Protein Coding	2
178	NUP160	Nucleoporin 160	Protein Coding	2
179	SIN3B	SIN3 Transcription Regulator Family Member B	Protein Coding	2
180	SZT2	SZT2 Subunit Of KICSTOR Complex	Protein Coding	2
181	CRTC1	CREB Regulated Transcription Coactivator 1	Protein Coding	2
182	EXOSC2	Exosome Component 2	Protein Coding	2
183	SIRT3	Sirtuin 3	Protein Coding	2
184	SIRT1	Sirtuin 1	Protein Coding	2
185	CBX6	Chromobox 6	Protein Coding	2
186	NUP188	Nucleoporin 188	Protein Coding	2
187	SUZ12	SUZ12 Polycomb Repressive Complex 2 Subunit	Protein Coding	2
188	RPL13A	Ribosomal Protein L13a	Protein Coding	2
189	CABIN1	Calcineurin Binding Protein 1	Protein Coding	2
190	FOS	Fos Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
191	NUP62	Nucleoporin 62	Protein Coding	2
192	LY96	Lymphocyte Antigen 96	Protein Coding	2
193	PPP1R15A	Protein Phosphatase 1 Regulatory Subunit 15A	Protein Coding	2
194	SLC7A11	Solute Carrier Family 7 Member 11	Protein Coding	2
195	SH3BP4	SH3 Domain Binding Protein 4	Protein Coding	2
196	ATP6V0D2	ATPase H+ Transporting V0 Subunit D2	Protein Coding	2
197	ATP6V1C2	ATPase H+ Transporting V1 Subunit C2	Protein Coding	2
198	CDC26	Cell Division Cycle 26	Protein Coding	2
199	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	2
200	G6PD	Glucose-6-Phosphate Dehydrogenase	Protein Coding	2
201	H2BC1	H2B Clustered Histone 1	Protein Coding	2
202	GPX6	Glutathione Peroxidase 6	Protein Coding	2
203	PRDX5	Peroxiredoxin 5	Protein Coding	2
204	TXN2	Thioredoxin 2	Protein Coding	2
205	ASF1A	Anti-Silencing Function 1A Histone Chaperone	Protein Coding	2
206	RPL36	Ribosomal Protein L36	Protein Coding	2
207	ANAPC15	Anaphase Promoting Complex Subunit 15	Protein Coding	2
208	POT1	Protection Of Telomeres 1	Protein Coding	2
209	HSPA12A	Heat Shock Protein Family A (Hsp70) Member 12A	Protein Coding	2
210	SIN3A	SIN3 Transcription Regulator Family Member A	Protein Coding	2
211	HIGD1A	HIG1 Hypoxia Inducible Domain Family Member 1A	Protein Coding	2
212	TUBB8B	Tubulin Beta 8B	Protein Coding	2
213	UBXN7	UBX Domain Protein 7	Protein Coding	2
214	TINF2	TERF1 Interacting Nuclear Factor 2	Protein Coding	2
215	HSPB8	Heat Shock Protein Family B (Small) Member 8	Protein Coding	2
216	AGO1	Argonaute RISC Component 1	Protein Coding	2
217	GFPT1	Glutamine--Fructose-6-Phosphate Transaminase 1	Protein Coding	2
218	DNAJC2	DnaJ Heat Shock Protein Family (Hsp40) Member C2	Protein Coding	2
219	EIF2AK1	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 1	Protein Coding	2
220	SERP1	Stress Associated Endoplasmic Reticulum Protein 1	Protein Coding	2
221	SESN1	Sestrin 1	Protein Coding	2
222	VENTX	VENT Homeobox	Protein Coding	2
223	GCLC	Glutamate-Cysteine Ligase Catalytic Subunit	Protein Coding	2
224	GCLM	Glutamate-Cysteine Ligase Modifier Subunit	Protein Coding	2
225	TNRC6A	Trinucleotide Repeat Containing Adaptor 6A	Protein Coding	2
226	UBE2S	Ubiquitin Conjugating Enzyme E2 S	Protein Coding	2
227	HTRA2	HtrA Serine Peptidase 2	Protein Coding	2
228	GPX1	Glutathione Peroxidase 1	Protein Coding	2
229	GPX2	Glutathione Peroxidase 2	Protein Coding	2
230	GPX3	Glutathione Peroxidase 3	Protein Coding	2
231	GPX5	Glutathione Peroxidase 5	Protein Coding	2
232	GPX7	Glutathione Peroxidase 7	Protein Coding	2
233	GRB10	Growth Factor Receptor Bound Protein 10	Protein Coding	2
234	LAMTOR2	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 2	Protein Coding	2
235	NR3C1	Nuclear Receptor Subfamily 3 Group C Member 1	Protein Coding	2
236	GSK3A	Glycogen Synthase Kinase 3 Alpha	Protein Coding	2
237	GSK3B	Glycogen Synthase Kinase 3 Beta	Protein Coding	2
238	GSR	Glutathione-Disulfide Reductase	Protein Coding	2
239	GSTA1	Glutathione S-Transferase Alpha 1	Protein Coding	2
240	GSTA3	Glutathione S-Transferase Alpha 3	Protein Coding	2
241	GSTP1	Glutathione S-Transferase Pi 1	Protein Coding	2
242	UBN1	Ubinuclein 1	Protein Coding	2
243	ANAPC2	Anaphase Promoting Complex Subunit 2	Protein Coding	2
244	ANAPC4	Anaphase Promoting Complex Subunit 4	Protein Coding	2
245	ERO1A	Endoplasmic Reticulum Oxidoreductase 1 Alpha	Protein Coding	2
246	H2AC8	H2A Clustered Histone 8	Protein Coding	2
247	H2AC7	H2A Clustered Histone 7	Protein Coding	2
248	H2AX	H2A.X Variant Histone	Protein Coding	2
249	H2BC5	H2B Clustered Histone 5	Protein Coding	2
250	H2BC3	H2B Clustered Histone 3	Protein Coding	2
251	H3-3A	H3.3 Histone A	Protein Coding	2
252	H3-3B	H3.3 Histone B	Protein Coding	2
253	HBA1	Hemoglobin Subunit Alpha 1	Protein Coding	2
254	HBA2	Hemoglobin Subunit Alpha 2	Protein Coding	2
255	HBB	Hemoglobin Subunit Beta	Protein Coding	2
256	HDGF	Heparin Binding Growth Factor	Protein Coding	2
257	CXXC1	CXXC Finger Protein 1	Protein Coding	2
258	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	2
259	STOML2	Stomatin Like 2	Protein Coding	2
260	HMGA1	High Mobility Group AT-Hook 1	Protein Coding	2
261	HMOX1	Heme Oxygenase 1	Protein Coding	2
262	HMOX2	Heme Oxygenase 2	Protein Coding	2
263	NUDT2	Nudix Hydrolase 2	Protein Coding	2
264	HSBP1	Heat Shock Factor Binding Protein 1	Protein Coding	2
265	HSF1	Heat Shock Transcription Factor 1	Protein Coding	2
266	DNAJA1	DnaJ Heat Shock Protein Family (Hsp40) Member A1	Protein Coding	2
267	HSPA1A	Heat Shock Protein Family A (Hsp70) Member 1A	Protein Coding	2
268	HSPA1B	Heat Shock Protein Family A (Hsp70) Member 1B	Protein Coding	2
269	HSPA1L	Heat Shock Protein Family A (Hsp70) Member 1 Like	Protein Coding	2
270	HSPA2	Heat Shock Protein Family A (Hsp70) Member 2	Protein Coding	2
271	HSPA4	Heat Shock Protein Family A (Hsp70) Member 4	Protein Coding	2
272	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	2
273	HSPA6	Heat Shock Protein Family A (Hsp70) Member 6	Protein Coding	2
274	HSPA8	Heat Shock Protein Family A (Hsp70) Member 8	Protein Coding	2
275	HSPA9	Heat Shock Protein Family A (Hsp70) Member 9	Protein Coding	2
276	HSP90AA1	Heat Shock Protein 90 Alpha Family Class A Member 1	Protein Coding	2
277	HSP90AB1	Heat Shock Protein 90 Alpha Family Class B Member 1	Protein Coding	2
278	HSPD1	Heat Shock Protein Family D (Hsp60) Member 1	Protein Coding	2
279	HSPE1	Heat Shock Protein Family E (Hsp10) Member 1	Protein Coding	2
280	DNAJB1	DnaJ Heat Shock Protein Family (Hsp40) Member B1	Protein Coding	2
281	H3C15	H3 Clustered Histone 15	Protein Coding	2
282	APOA1	Apolipoprotein A1	Protein Coding	2
283	APOB	Apolipoprotein B	Protein Coding	2
284	ID1	Inhibitor Of DNA Binding 1	Protein Coding	2
285	IDH1	Isocitrate Dehydrogenase (NADP(+)) 1	Protein Coding	2
286	COX8C	Cytochrome C Oxidase Subunit 8C	Protein Coding	2
287	AQP8	Aquaporin 8	Protein Coding	2
288	IFNB1	Interferon Beta 1	Protein Coding	2
289	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	2
290	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	2
291	IGFBP1	Insulin Like Growth Factor Binding Protein 1	Protein Coding	2
292	NUP43	Nucleoporin 43	Protein Coding	2
293	IGFBP7	Insulin Like Growth Factor Binding Protein 7	Protein Coding	2
294	IL1A	Interleukin 1 Alpha	Protein Coding	2
295	IL6	Interleukin 6	Protein Coding	2
296	CXCL8	C-X-C Motif Chemokine Ligand 8	Protein Coding	2
297	AR	Androgen Receptor	Protein Coding	2
298	ACADVL	Acyl-CoA Dehydrogenase Very Long Chain	Protein Coding	2
299	JUN	Jun Proto-Oncogene, AP-1 Transcription Factor Subunit	Protein Coding	2
300	AREG	Amphiregulin	Protein Coding	2
301	LAMTOR4	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 4	Protein Coding	2
302	RPSA	Ribosomal Protein SA	Protein Coding	2
303	LMNA	Lamin A/C	Protein Coding	2
304	LMNB1	Lamin B1	Protein Coding	2
305	ARNT	Aryl Hydrocarbon Receptor Nuclear Translocator	Protein Coding	2
306	BMAL1	Basic Helix-Loop-Helix ARNT Like 1	Protein Coding	2
307	MAFG	MAF BZIP Transcription Factor G	Protein Coding	2
308	DNAJB9	DnaJ Heat Shock Protein Family (Hsp40) Member B9	Protein Coding	2
309	MDM2	MDM2 Proto-Oncogene	Protein Coding	2
310	MDM4	MDM4 Regulator Of P53	Protein Coding	2
311	ME1	Malic Enzyme 1	Protein Coding	2
312	MEF2C	Myocyte Enhancer Factor 2C	Protein Coding	2
313	MEF2D	Myocyte Enhancer Factor 2D	Protein Coding	2
314	MAP3K5	Mitogen-Activated Protein Kinase Kinase Kinase 5	Protein Coding	2
315	NR3C2	Nuclear Receptor Subfamily 3 Group C Member 2	Protein Coding	2
316	MOV10	Mov10 RNA Helicase	Protein Coding	2
317	MRE11	MRE11 Double Strand Break Repair Nuclease	Protein Coding	2
318	ABCC1	ATP Binding Cassette Subfamily C Member 1 (ABCC1 Blood Group)	Protein Coding	2
319	ASNS	Asparagine Synthetase (Glutamine-Hydrolyzing)	Protein Coding	2
320	EIF2AK4	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 4	Protein Coding	2
321	SULT1A4	Sulfotransferase Family 1A Member 4	Protein Coding	2
322	MT-CO1	Mitochondrially Encoded Cytochrome C Oxidase I	Protein Coding	2
323	MT-CO2	Mitochondrially Encoded Cytochrome C Oxidase II	Protein Coding	2
324	MT-CO3	Mitochondrially Encoded Cytochrome C Oxidase III	Protein Coding	2
325	MYC	MYC Proto-Oncogene, BHLH Transcription Factor	Protein Coding	2
326	ATF3	Activating Transcription Factor 3	Protein Coding	2
327	ATF4	Activating Transcription Factor 4	Protein Coding	2
328	NBN	Nibrin	Protein Coding	2
329	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	2
330	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	2
331	COXFA4	Cytochrome C Oxidase Associated Subunit FA4	Protein Coding	2
332	ATM	ATM Serine/Threonine Kinase	Protein Coding	2
333	RPL10A	Ribosomal Protein L10a	Protein Coding	2
334	H2AB1	H2A.B Variant Histone 1	Protein Coding	2
335	ATOX1	Antioxidant 1 Copper Chaperone	Protein Coding	2
336	NFE2L2	NFE2 Like BZIP Transcription Factor 2	Protein Coding	2
337	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	2
338	NFYA	Nuclear Transcription Factor Y Subunit Alpha	Protein Coding	2
339	NFYB	Nuclear Transcription Factor Y Subunit Beta	Protein Coding	2
340	NFYC	Nuclear Transcription Factor Y Subunit Gamma	Protein Coding	2
341	NOTCH1	Notch Receptor 1	Protein Coding	2
342	NPAS2	Neuronal PAS Domain Protein 2	Protein Coding	2
343	NRF1	Nuclear Respiratory Factor 1	Protein Coding	2
344	NUP88	Nucleoporin 88	Protein Coding	2
345	NUP98	Nucleoporin 98 And 96 Precursor	Protein Coding	2
346	GPX8	Glutathione Peroxidase 8 (Putative)	Protein Coding	2
347	P4HB	Prolyl 4-Hydroxylase Subunit Beta	Protein Coding	2
348	MINK1	Misshapen Like Kinase 1	Protein Coding	2
349	NOX4	NADPH Oxidase 4	Protein Coding	2
350	PRDX1	Peroxiredoxin 1	Protein Coding	2
351	PARN	Poly(A)-Specific Ribonuclease	Protein Coding	2
352	EXOSC3	Exosome Component 3	Protein Coding	2
353	EXOSC1	Exosome Component 1	Protein Coding	2
354	RPS27L	Ribosomal Protein S27 Like	Protein Coding	2
355	RPL26L1	Ribosomal Protein L26 Like 1	Protein Coding	2
356	DYNC1LI1	Dynein Cytoplasmic 1 Light Intermediate Chain 1	Protein Coding	2
357	DCTN4	Dynactin Subunit 4	Protein Coding	2
358	HSPA14	Heat Shock Protein Family A (Hsp70) Member 14	Protein Coding	2
359	CLEC1B	C-Type Lectin Domain Family 1 Member B	Protein Coding	2
360	FZR1	Fizzy And Cell Division Cycle 20 Related 1	Protein Coding	2
361	MBTPS2	Membrane Bound Transcription Factor Peptidase, Site 2	Protein Coding	2
362	ATP6V1D	ATPase H+ Transporting V1 Subunit D	Protein Coding	2
363	ANAPC5	Anaphase Promoting Complex Subunit 5	Protein Coding	2
364	ANAPC7	Anaphase Promoting Complex Subunit 7	Protein Coding	2
365	HIKESHI	Heat Shock Protein Nuclear Import Factor Hikeshi	Protein Coding	2
366	ANAPC11	Anaphase Promoting Complex Subunit 11	Protein Coding	2
367	PDGFA	Platelet Derived Growth Factor Subunit A	Protein Coding	2
368	ATP6V1H	ATPase H+ Transporting V1 Subunit H	Protein Coding	2
369	DNAJB11	DnaJ Heat Shock Protein Family (Hsp40) Member B11	Protein Coding	2
370	TUBA8	Tubulin Alpha 8	Protein Coding	2
371	PGD	Phosphogluconate Dehydrogenase	Protein Coding	2
372	ATP6V1A	ATPase H+ Transporting V1 Subunit A	Protein Coding	2
373	PGR	Progesterone Receptor	Protein Coding	2
374	ATP6V1B1	ATPase H+ Transporting V1 Subunit B1	Protein Coding	2
375	ATP6V1B2	ATPase H+ Transporting V1 Subunit B2	Protein Coding	2
376	ATP6V0C	ATPase H+ Transporting V0 Subunit C	Protein Coding	2
377	ATP6V1C1	ATPase H+ Transporting V1 Subunit C1	Protein Coding	2
378	ATP6V1E1	ATPase H+ Transporting V1 Subunit E1	Protein Coding	2
379	ATP6V0B	ATPase H+ Transporting V0 Subunit B	Protein Coding	2
380	NUP54	Nucleoporin 54	Protein Coding	2
381	ATP6V1G2	ATPase H+ Transporting V1 Subunit G2	Protein Coding	2
382	ATP7A	ATPase Copper Transporting Alpha	Protein Coding	2
383	EXOSC9	Exosome Component 9	Protein Coding	2
384	H2BC12L	H2B Clustered Histone 12 Like	Protein Coding	2
385	TERF2IP	TERF2 Interacting Protein	Protein Coding	2
386	MIOS	Meiosis Regulator For Oocyte Development	Protein Coding	2
387	ATR	ATR Checkpoint Kinase	Protein Coding	2
388	EXOSC4	Exosome Component 4	Protein Coding	2
389	EGLN1	Egl-9 Family Hypoxia Inducible Factor 1	Protein Coding	2
390	PPARA	Peroxisome Proliferator Activated Receptor Alpha	Protein Coding	2
391	MED1	Mediator Complex Subunit 1	Protein Coding	2
392	LAMTOR1	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 1	Protein Coding	2
393	FKBP14	FKBP Prolyl Isomerase 14	Protein Coding	2
394	WIPI1	WD Repeat Domain, Phosphoinositide Interacting 1	Protein Coding	2
395	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	2
396	IMPACT	Impact RWD Domain Protein	Protein Coding	2
397	H4C15	H4 Clustered Histone 15	Protein Coding	2
398	DNAJA4	DnaJ Heat Shock Protein Family (Hsp40) Member A4	Protein Coding	2
399	STAP2	Signal Transducing Adaptor Family Member 2	Protein Coding	2
400	PRKAA2	Protein Kinase AMP-Activated Catalytic Subunit Alpha 2	Protein Coding	2
401	HIF1AN	Hypoxia Inducible Factor 1 Subunit Alpha Inhibitor	Protein Coding	2
402	NPLOC4	NPL4 Homolog, Ubiquitin Recognition Factor	Protein Coding	2
403	NDC1	NDC1 Transmembrane Nucleoporin	Protein Coding	2
404	ARFGAP1	ARF GTPase Activating Protein 1	Protein Coding	2
405	NUP133	Nucleoporin 133	Protein Coding	2
406	H2AJ	H2A.J Histone	Protein Coding	2
407	PRKCD	Protein Kinase C Delta	Protein Coding	2
408	PRKCI	Protein Kinase C Iota	Protein Coding	2
409	ITFG2	Integrin Alpha FG-GAP Repeat Containing 2	Protein Coding	2
410	ACTR10	Actin Related Protein 10	Protein Coding	2
411	MAPK1	Mitogen-Activated Protein Kinase 1	Protein Coding	2
412	MAPK3	Mitogen-Activated Protein Kinase 3	Protein Coding	2
413	MAPK7	Mitogen-Activated Protein Kinase 7	Protein Coding	2
414	MAPK8	Mitogen-Activated Protein Kinase 8	Protein Coding	2
415	MAPK11	Mitogen-Activated Protein Kinase 11	Protein Coding	2
416	MYDGF	Myeloid Derived Growth Factor	Protein Coding	2
417	MAPK9	Mitogen-Activated Protein Kinase 9	Protein Coding	2
418	MAPK10	Mitogen-Activated Protein Kinase 10	Protein Coding	2
419	MAP2K3	Mitogen-Activated Protein Kinase Kinase 3	Protein Coding	2
420	MAP2K6	Mitogen-Activated Protein Kinase Kinase 6	Protein Coding	2
421	MAP2K7	Mitogen-Activated Protein Kinase Kinase 7	Protein Coding	2
422	DNAJC3	DnaJ Heat Shock Protein Family (Hsp40) Member C3	Protein Coding	2
423	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	2
424	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	2
425	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	2
426	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	2
427	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	2
428	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	2
429	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	2
430	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	2
431	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	2
432	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	2
433	EXOSC5	Exosome Component 5	Protein Coding	2
434	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	2
435	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	2
436	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	2
437	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	2
438	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	2
439	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	2
440	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	2
441	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	2
442	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	2
443	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	2
444	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	2
445	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	2
446	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	2
447	BACH1	BACH Transcriptional Regulator 1	Protein Coding	2
448	NUP107	Nucleoporin 107	Protein Coding	2
449	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	2
450	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	2
451	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	2
452	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	2
453	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	2
454	BAG1	BAG Cochaperone 1	Protein Coding	2
455	CBX8	Chromobox 8	Protein Coding	2
456	RPTOR	Regulatory Associated Protein Of MTOR Complex 1	Protein Coding	2
457	PTK6	Protein Tyrosine Kinase 6	Protein Coding	2
458	FNIP2	Folliculin Interacting Protein 2	Protein Coding	2
459	EP400	E1A Binding Protein P400	Protein Coding	2
460	TNRC6C	Trinucleotide Repeat Containing Adaptor 6C	Protein Coding	2
461	TRIB3	Tribbles Pseudokinase 3	Protein Coding	2
462	CCAR2	Cell Cycle And Apoptosis Regulator 2	Protein Coding	2
463	SRPRB	SRP Receptor Subunit Beta	Protein Coding	2
464	RRAGD	Ras Related GTP Binding D	Protein Coding	2
465	RANBP2	RAN Binding Protein 2	Protein Coding	2
466	RB1	RB Transcriptional Corepressor 1	Protein Coding	2
467	RBBP4	RB Binding Protein 4, Chromatin Remodeling Factor	Protein Coding	2
468	RBBP7	RB Binding Protein 7, Chromatin Remodeling Factor	Protein Coding	2
469	BCL2	BCL2 Apoptosis Regulator	Protein Coding	2
470	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	2
471	BCL2L1	BCL2 Like 1	Protein Coding	2
472	RHEB	Ras Homolog, MTORC1 Binding	Protein Coding	2
473	RING1	Ring Finger Protein 1	Protein Coding	2
474	RNF2	Ring Finger Protein 2	Protein Coding	2
475	RORA	RAR Related Orphan Receptor A	Protein Coding	2
476	RPA1	Replication Protein A1	Protein Coding	2
477	RPA2	Replication Protein A2	Protein Coding	2
478	RPA3	Replication Protein A3	Protein Coding	2
479	RPL3	Ribosomal Protein L3	Protein Coding	2
480	RPL3L	Ribosomal Protein L3 Like	Protein Coding	2
481	RPL4	Ribosomal Protein L4	Protein Coding	2
482	RPL5	Ribosomal Protein L5	Protein Coding	2
483	RPL6	Ribosomal Protein L6	Protein Coding	2
484	RPL7	Ribosomal Protein L7	Protein Coding	2
485	RPL7A	Ribosomal Protein L7a	Protein Coding	2
486	RPL8	Ribosomal Protein L8	Protein Coding	2
487	HIGD1C	HIG1 Hypoxia Inducible Domain Family Member 1C	Protein Coding	2
488	RPL9	Ribosomal Protein L9	Protein Coding	2
489	RPL10	Ribosomal Protein L10	Protein Coding	2
490	RPL11	Ribosomal Protein L11	Protein Coding	2
491	RPL12	Ribosomal Protein L12	Protein Coding	2
492	RPL13	Ribosomal Protein L13	Protein Coding	2
493	RPL15	Ribosomal Protein L15	Protein Coding	2
494	RPL17	Ribosomal Protein L17	Protein Coding	2
495	RPL18	Ribosomal Protein L18	Protein Coding	2
496	RPL18A	Ribosomal Protein L18a	Protein Coding	2
497	RPL19	Ribosomal Protein L19	Protein Coding	2
498	RPL21	Ribosomal Protein L21	Protein Coding	2
499	RPL22	Ribosomal Protein L22	Protein Coding	2
500	RPL23A	Ribosomal Protein L23a	Protein Coding	2
501	RPL24	Ribosomal Protein L24	Protein Coding	2
502	RPL26	Ribosomal Protein L26	Protein Coding	2
503	RPL27	Ribosomal Protein L27	Protein Coding	2
504	RPL30	Ribosomal Protein L30	Protein Coding	2
505	RPL27A	Ribosomal Protein L27a	Protein Coding	2
506	RPL28	Ribosomal Protein L28	Protein Coding	2
507	RPL29	Ribosomal Protein L29	Protein Coding	2
508	RPL31	Ribosomal Protein L31	Protein Coding	2
509	RPL32	Ribosomal Protein L32	Protein Coding	2
510	RPL34	Ribosomal Protein L34	Protein Coding	2
511	RPL35A	Ribosomal Protein L35a	Protein Coding	2
512	RPL36AL	Ribosomal Protein L36a Like	Protein Coding	2
513	RPL37	Ribosomal Protein L37	Protein Coding	2
514	RPL37A	Ribosomal Protein L37a	Protein Coding	2
515	RPL38	Ribosomal Protein L38	Protein Coding	2
516	RPL39	Ribosomal Protein L39	Protein Coding	2
517	RPL41	Ribosomal Protein L41	Protein Coding	2
518	RPL36A	Ribosomal Protein L36a	Protein Coding	2
519	RPLP0	Ribosomal Protein Lateral Stalk Subunit P0	Protein Coding	2
520	RPLP1	Ribosomal Protein Lateral Stalk Subunit P1	Protein Coding	2
521	RPLP2	Ribosomal Protein Lateral Stalk Subunit P2	Protein Coding	2
522	RPS2	Ribosomal Protein S2	Protein Coding	2
523	RPS3	Ribosomal Protein S3	Protein Coding	2
524	RPS3A	Ribosomal Protein S3A	Protein Coding	2
525	RPS4X	Ribosomal Protein S4 X-Linked	Protein Coding	2
526	RPS4Y1	Ribosomal Protein S4 Y-Linked 1	Protein Coding	2
527	RPS5	Ribosomal Protein S5	Protein Coding	2
528	RPS6	Ribosomal Protein S6	Protein Coding	2
529	RPS6KA1	Ribosomal Protein S6 Kinase A1	Protein Coding	2
530	RPS6KA2	Ribosomal Protein S6 Kinase A2	Protein Coding	2
531	RPS6KA3	Ribosomal Protein S6 Kinase A3	Protein Coding	2
532	RPS7	Ribosomal Protein S7	Protein Coding	2
533	RPS8	Ribosomal Protein S8	Protein Coding	2
534	RPS9	Ribosomal Protein S9	Protein Coding	2
535	RPS10	Ribosomal Protein S10	Protein Coding	2
536	RPS11	Ribosomal Protein S11	Protein Coding	2
537	RPS12	Ribosomal Protein S12	Protein Coding	2
538	RPS13	Ribosomal Protein S13	Protein Coding	2
539	RPS14	Ribosomal Protein S14	Protein Coding	2
540	RPS15	Ribosomal Protein S15	Protein Coding	2
541	RPS15A	Ribosomal Protein S15a	Protein Coding	2
542	RPS16	Ribosomal Protein S16	Protein Coding	2
543	RPS17	Ribosomal Protein S17	Protein Coding	2
544	RPS18	Ribosomal Protein S18	Protein Coding	2
545	RPS19	Ribosomal Protein S19	Protein Coding	2
546	RPS20	Ribosomal Protein S20	Protein Coding	2
547	RPS21	Ribosomal Protein S21	Protein Coding	2
548	RPS23	Ribosomal Protein S23	Protein Coding	2
549	RPS24	Ribosomal Protein S24	Protein Coding	2
550	RPS25	Ribosomal Protein S25	Protein Coding	2
551	RPS26	Ribosomal Protein S26	Protein Coding	2
552	RPS27	Ribosomal Protein S27	Protein Coding	2
553	RPS27A	Ribosomal Protein S27a	Protein Coding	2
554	RPS28	Ribosomal Protein S28	Protein Coding	2
555	RPS29	Ribosomal Protein S29	Protein Coding	2
556	RXRA	Retinoid X Receptor Alpha	Protein Coding	2
557	CCL2	C-C Motif Chemokine Ligand 2	Protein Coding	2
558	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	2
559	TSPYL2	TSPY Like 2	Protein Coding	2
560	RRAGC	Ras Related GTP Binding C	Protein Coding	2
561	MAP2K4	Mitogen-Activated Protein Kinase Kinase 4	Protein Coding	2
562	MLST8	MTOR Associated Protein MLST8	Protein Coding	2
563	HIF3A	Hypoxia Inducible Factor 3 Subunit Alpha	Protein Coding	2
564	BLVRA	Biliverdin Reductase A	Protein Coding	2
565	BLVRB	Biliverdin Reductase B	Protein Coding	2
566	SHC1	SHC Adaptor Protein 1	Protein Coding	2
567	ANAPC1	Anaphase Promoting Complex Subunit 1	Protein Coding	2
568	CREB3L2	CAMP Responsive Element Binding Protein 3 Like 2	Protein Coding	2
569	CRTC3	CREB Regulated Transcription Coactivator 3	Protein Coding	2
570	BMI1	BMI1 Proto-Oncogene, Polycomb Ring Finger	Protein Coding	2
571	FBXL17	F-Box And Leucine Rich Repeat Protein 17	Protein Coding	2
572	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	2
573	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	2
574	ACD	ACD Shelterin Complex Subunit And Telomerase Recruitment Factor	Protein Coding	2
575	CASTOR1	Cytosolic Arginine Sensor For MTORC1 Subunit 1	Protein Coding	2
576	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	2
577	H3C13	H3 Clustered Histone 13	Protein Coding	2
578	SMARCD3	SWI/SNF Related BAF Chromatin Remodeling Complex Subunit D3	Protein Coding	2
579	SOD1	Superoxide Dismutase 1	Protein Coding	2
580	SOD2	Superoxide Dismutase 2	Protein Coding	2
581	SOD3	Superoxide Dismutase 3	Protein Coding	2
582	SP1	Sp1 Transcription Factor	Protein Coding	2
583	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	2
584	SRPRA	SRP Receptor Subunit Alpha	Protein Coding	2
585	TRIM21	Tripartite Motif Containing 21	Protein Coding	2
586	SSR1	Signal Sequence Receptor Subunit 1	Protein Coding	2
587	ST13	ST13 Hsp70 Interacting Protein	Protein Coding	2
588	STAT3	Signal Transducer And Activator Of Transcription 3	Protein Coding	2
589	HSPA13	Heat Shock Protein Family A (Hsp70) Member 13	Protein Coding	2
590	SULT1A3	Sulfotransferase Family 1A Member 3	Protein Coding	2
591	TALDO1	Transaldolase 1	Protein Coding	2
592	TBL1X	Transducin Beta Like 1 X-Linked	Protein Coding	2
593	ELOC	Elongin C	Protein Coding	2
594	ELOB	Elongin B	Protein Coding	2
595	PRDX2	Peroxiredoxin 2	Protein Coding	2
596	TERF1	Telomeric Repeat Binding Factor 1	Protein Coding	2
597	TERF2	Telomeric Repeat Binding Factor 2	Protein Coding	2
598	TFDP1	Transcription Factor Dp-1	Protein Coding	2
599	TFDP2	Transcription Factor Dp-2	Protein Coding	2
600	TKT	Transketolase	Protein Coding	2
601	TLN1	Talin 1	Protein Coding	2
602	TLR4	Toll Like Receptor 4	Protein Coding	2
603	TP53	Tumor Protein P53	Protein Coding	2
604	TPR	Translocated Promoter Region, Nuclear Basket Protein	Protein Coding	2
605	HSP90B1	Heat Shock Protein 90 Beta Family Member 1	Protein Coding	2
606	H2AC19	H2A Clustered Histone 19	Protein Coding	2
607	DNAJC7	DnaJ Heat Shock Protein Family (Hsp40) Member C7	Protein Coding	2
608	TUBA4A	Tubulin Alpha 4a	Protein Coding	2
609	TUBA3C	Tubulin Alpha 3c	Protein Coding	2
610	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	2
611	HIRA	Histone Cell Cycle Regulator	Protein Coding	2
612	CASTOR2	Cytosolic Arginine Sensor For MTORC1 Subunit 2	Protein Coding	2
613	TXN	Thioredoxin	Protein Coding	2
614	TXNRD1	Thioredoxin Reductase 1	Protein Coding	2
615	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	2
616	UBB	Ubiquitin B	Protein Coding	2
617	UBC	Ubiquitin C	Protein Coding	2
618	UBE2D1	Ubiquitin Conjugating Enzyme E2 D1	Protein Coding	2
619	UBE2D2	Ubiquitin Conjugating Enzyme E2 D2	Protein Coding	2
620	UBE2D3	Ubiquitin Conjugating Enzyme E2 D3	Protein Coding	2
621	UBE2E1	Ubiquitin Conjugating Enzyme E2 E1	Protein Coding	2
622	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	2
623	VCP	Valosin Containing Protein	Protein Coding	2
624	VEGFA	Vascular Endothelial Growth Factor A	Protein Coding	2
625	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	2
626	WFS1	Wolframin ER Transmembrane Glycoprotein	Protein Coding	2
627	XBP1	X-Box Binding Protein 1	Protein Coding	2
628	XPO1	Exportin 1	Protein Coding	2
629	YWHAE	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Epsilon	Protein Coding	2
630	CA9	Carbonic Anhydrase 9	Protein Coding	2
631	ZBTB17	Zinc Finger And BTB Domain Containing 17	Protein Coding	2
632	TUBA1A	Tubulin Alpha 1a	Protein Coding	2
633	MAPKAPK3	MAPK Activated Protein Kinase 3	Protein Coding	2
634	NUP37	Nucleoporin 37	Protein Coding	2
635	CHAC1	ChaC Glutathione Specific Gamma-Glutamylcyclotransferase 1	Protein Coding	2
636	NOX5	NADPH Oxidase 5	Protein Coding	2
637	MUL1	Mitochondrial E3 Ubiquitin Protein Ligase 1	Protein Coding	2
638	TBL1XR1	TBL1X/Y Related 1	Protein Coding	2
639	WDR59	WD Repeat Domain 59	Protein Coding	2
640	PALB2	Partner And Localizer Of BRCA2	Protein Coding	2
641	MAFK	MAF BZIP Transcription Factor K	Protein Coding	2
642	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	2
643	EHMT1	Euchromatic Histone Lysine Methyltransferase 1	Protein Coding	2
644	TUBAL3	Tubulin Alpha Like 3	Protein Coding	2
645	NUP85	Nucleoporin 85	Protein Coding	2
646	PHC3	Polyhomeotic Homolog 3	Protein Coding	2
647	TUBA4B	Tubulin Alpha 4b	Protein Coding	2
648	CHD9	Chromodomain Helicase DNA Binding Protein 9	Protein Coding	2
649	NUP214	Nucleoporin 214	Protein Coding	2
650	AAAS	Aladin WD Repeat Nucleoporin	Protein Coding	2
651	HMGA2	High Mobility Group AT-Hook 2	Protein Coding	2
652	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	2
653	CALR	Calreticulin	Protein Coding	2
654	NPRL3	NPR3 Like, GATOR1 Complex Subunit	Protein Coding	2
655	CAMK2A	Calcium/Calmodulin Dependent Protein Kinase II Alpha	Protein Coding	2
656	DCSTAMP	Dendrocyte Expressed Seven Transmembrane Protein	Protein Coding	2
657	HM13	Histocompatibility Minor 13	Protein Coding	2
658	CAMK2B	Calcium/Calmodulin Dependent Protein Kinase II Beta	Protein Coding	2
659	MAP1LC3B	Microtubule Associated Protein 1 Light Chain 3 Beta	Protein Coding	2
660	CAMK2D	Calcium/Calmodulin Dependent Protein Kinase II Delta	Protein Coding	2
661	CAMK2G	Calcium/Calmodulin Dependent Protein Kinase II Gamma	Protein Coding	2
662	SEH1L	SEH1 Like Nucleoporin	Protein Coding	2
663	NRIP1	Nuclear Receptor Interacting Protein 1	Protein Coding	2
664	CAPZA1	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 1	Protein Coding	2
665	H3-4	H3.4 Histone, Cluster Member	Protein Coding	2
666	H4C9	H4 Clustered Histone 9	Protein Coding	2
667	CAPZA2	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2	Protein Coding	2
668	CAPZB	Capping Actin Protein Of Muscle Z-Line Subunit Beta	Protein Coding	2
669	H2AC14	H2A Clustered Histone 14	Protein Coding	2
670	H2AC6	H2A Clustered Histone 6	Protein Coding	2
671	H2AC4	H2A Clustered Histone 4	Protein Coding	2
672	H2AC18	H2A Clustered Histone 18	Protein Coding	2
673	H2AC20	H2A Clustered Histone 20	Protein Coding	2
674	H2BC8	H2B Clustered Histone 8	Protein Coding	2
675	H2BC13	H2B Clustered Histone 13	Protein Coding	2
676	H2BC15	H2B Clustered Histone 15	Protein Coding	2
677	H2BC14	H2B Clustered Histone 14	Protein Coding	2
678	H2BC7	H2B Clustered Histone 7	Protein Coding	2
679	H2BC6	H2B Clustered Histone 6	Protein Coding	2
680	H2BC9	H2B Clustered Histone 9	Protein Coding	2
681	H2BC10	H2B Clustered Histone 10	Protein Coding	2
682	H2BC4	H2B Clustered Histone 4	Protein Coding	2
683	H2BC17	H2B Clustered Histone 17	Protein Coding	2
684	H2BC21	H2B Clustered Histone 21	Protein Coding	2
685	H3C1	H3 Clustered Histone 1	Protein Coding	2
686	H3C4	H3 Clustered Histone 4	Protein Coding	2
687	H3C3	H3 Clustered Histone 3	Protein Coding	2
688	H3C6	H3 Clustered Histone 6	Protein Coding	2
689	H3C11	H3 Clustered Histone 11	Protein Coding	2
690	H3C8	H3 Clustered Histone 8	Protein Coding	2
691	H3C12	H3 Clustered Histone 12	Protein Coding	2
692	H3C10	H3 Clustered Histone 10	Protein Coding	2
693	H3C2	H3 Clustered Histone 2	Protein Coding	2
694	H4C1	H4 Clustered Histone 1	Protein Coding	2
695	H4C4	H4 Clustered Histone 4	Protein Coding	2
696	H4C6	H4 Clustered Histone 6	Protein Coding	2
697	H4C12	H4 Clustered Histone 12	Protein Coding	2
698	H4C11	H4 Clustered Histone 11	Protein Coding	2
699	H4C3	H4 Clustered Histone 3	Protein Coding	2
700	H4C8	H4 Clustered Histone 8	Protein Coding	2
701	H4C2	H4 Clustered Histone 2	Protein Coding	2
702	SESN2	Sestrin 2	Protein Coding	2
703	H4C5	H4 Clustered Histone 5	Protein Coding	2
704	H4C13	H4 Clustered Histone 13	Protein Coding	2
705	H4C14	H4 Clustered Histone 14	Protein Coding	2
706	CHD6	Chromodomain Helicase DNA Binding Protein 6	Protein Coding	2
707	WDR24	WD Repeat Domain 24	Protein Coding	2
708	AKT1S1	AKT1 Substrate 1	Protein Coding	2
709	SYVN1	Synoviolin 1	Protein Coding	2
710	DCTN5	Dynactin Subunit 5	Protein Coding	2
711	CUL3	Cullin 3	Protein Coding	2
712	CUL2	Cullin 2	Protein Coding	2
713	CUL1	Cullin 1	Protein Coding	2
714	TUBB6	Tubulin Beta 6 Class V	Protein Coding	2
715	CREB3L3	CAMP Responsive Element Binding Protein 3 Like 3	Protein Coding	2
716	CAT	Catalase	Protein Coding	2
717	COX4I2	Cytochrome C Oxidase Subunit 4I2	Protein Coding	2
718	CBX2	Chromobox 2	Protein Coding	2
719	TUBA1C	Tubulin Alpha 1c	Protein Coding	2
720	RAE1	Ribonucleic Acid Export 1	Protein Coding	2
721	AJUBA	Ajuba LIM Protein	Protein Coding	2
722	H2BC12	H2B Clustered Histone 12	Protein Coding	2
723	CBX4	Chromobox 4	Protein Coding	2
724	HELZ2	Helicase With Zinc Finger 2	Protein Coding	2
725	MAPKAPK5	MAPK Activated Protein Kinase 5	Protein Coding	2
726	KHSRP	KH-Type Splicing Regulatory Protein	Protein Coding	2
727	NCOA1	Nuclear Receptor Coactivator 1	Protein Coding	2
728	LAMTOR3	Late Endosomal/Lysosomal Adaptor, MAPK And MTOR Activator 3	Protein Coding	2
729	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	2
730	CDC23	Cell Division Cycle 23	Protein Coding	2
731	ABCC3	ATP Binding Cassette Subfamily C Member 3	Protein Coding	2
732	MBTPS1	Membrane Bound Transcription Factor Peptidase, Site 1	Protein Coding	2
733	EED	Embryonic Ectoderm Development	Protein Coding	2
734	HDAC3	Histone Deacetylase 3	Protein Coding	2
735	SQSTM1	Sequestosome 1	Protein Coding	2
736	CDC16	Cell Division Cycle 16	Protein Coding	2
737	EIF2S2	Eukaryotic Translation Initiation Factor 2 Subunit Beta	Protein Coding	2
738	CCNA2	Cyclin A2	Protein Coding	2
739	CCNA1	Cyclin A1	Protein Coding	2
740	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	2
741	H3C7	H3 Clustered Histone 7	Protein Coding	2
742	H2BC11	H2B Clustered Histone 11	Protein Coding	2
743	CCNE1	Cyclin E1	Protein Coding	2
744	ATP6V0E1	ATPase H+ Transporting V0 Subunit E1	Protein Coding	2
745	LIMD1	LIM Domain Containing 1	Protein Coding	2
746	ATP6V1E2	ATPase H+ Transporting V1 Subunit E2	Protein Coding	2
747	RPL14	Ribosomal Protein L14	Protein Coding	2
748	CREB3L1	CAMP Responsive Element Binding Protein 3 Like 1	Protein Coding	2
749	ATP6V0D1	ATPase H+ Transporting V0 Subunit D1	Protein Coding	2
750	CCNE2	Cyclin E2	Protein Coding	2
751	RPS19BP1	Ribosomal Protein S19 Binding Protein 1	Protein Coding	2
752	COX7A2L	Cytochrome C Oxidase Subunit 7A2 Like	Protein Coding	2
753	MAPKAPK2	MAPK Activated Protein Kinase 2	Protein Coding	2
754	ATP6V1F	ATPase H+ Transporting V1 Subunit F	Protein Coding	2
755	RPL23	Ribosomal Protein L23	Protein Coding	2
756	LONP1	Lon Peptidase 1, Mitochondrial	Protein Coding	2
757	CAPZA3	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 3	Protein Coding	2
758	COX5A	Cytochrome C Oxidase Subunit 5A	Protein Coding	2
759	H2AZ2	H2A.Z Variant Histone 2	Protein Coding	2
760	ABCG2	ATP Binding Cassette Subfamily G Member 2 (JR Blood Group)	Protein Coding	2
761	MAP4K4	Mitogen-Activated Protein Kinase Kinase Kinase Kinase 4	Protein Coding	2
762	EIF2AK3	Eukaryotic Translation Initiation Factor 2 Alpha Kinase 3	Protein Coding	2
763	BAG5	BAG Cochaperone 5	Protein Coding	2
764	BAG3	BAG Cochaperone 3	Protein Coding	2
765	BAG2	BAG Cochaperone 2	Protein Coding	2
766	ATP6V1G1	ATPase H+ Transporting V1 Subunit G1	Protein Coding	2
767	GOSR2	Golgi SNAP Receptor Complex Member 2	Protein Coding	2
768	NR1D1	Nuclear Receptor Subfamily 1 Group D Member 1	Protein Coding	2
769	CLOCK	Clock Circadian Regulator	Protein Coding	2
770	PRDX6	Peroxiredoxin 6	Protein Coding	2
771	NCOR1	Nuclear Receptor Corepressor 1	Protein Coding	2
772	NCOR2	Nuclear Receptor Corepressor 2	Protein Coding	2
773	NUP155	Nucleoporin 155	Protein Coding	2
774	FNIP1	Folliculin Interacting Protein 1	Protein Coding	2
775	TGS1	Trimethylguanosine Synthase 1	Protein Coding	2
776	DEPDC5	DEP Domain Containing 5, GATOR1 Subcomplex Subunit	Protein Coding	2
777	NUP93	Nucleoporin 93	Protein Coding	2
778	EDEM1	ER Degradation Enhancing Alpha-Mannosidase Like Protein 1	Protein Coding	2
779	HERPUD1	Homocysteine Inducible ER Protein With Ubiquitin Like Domain 1	Protein Coding	2
780	TATDN2	TatD DNase Domain Containing 2	Protein Coding	2
781	DELE1	DAP3 Binding Cell Death Enhancer 1	Protein Coding	2
782	KEAP1	Kelch Like ECH Associated Protein 1	Protein Coding	2
783	NUP58	Nucleoporin 58	Protein Coding	2
784	CUL7	Cullin 7	Protein Coding	2
785	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	2
786	POM121	POM121 Transmembrane Nucleoporin	Protein Coding	2
787	CDC27	Cell Division Cycle 27	Protein Coding	2
788	NUP153	Nucleoporin 153	Protein Coding	2
789	CCS	Copper Chaperone For Superoxide Dismutase	Protein Coding	2
790	RBX1	Ring-Box 1	Protein Coding	2
791	CDH5	Cadherin 5	Protein Coding	1
792	CALCRL	Calcitonin Receptor Like Receptor	Protein Coding	1
793	RAMP2	Receptor Activity Modifying Protein 2	Protein Coding	1
794	YAP1	Yes1 Associated Transcriptional Regulator	Protein Coding	1
795	GNB5	G Protein Subunit Beta 5	Protein Coding	1
796	ADCY1	Adenylate Cyclase 1	Protein Coding	1
797	ADCY2	Adenylate Cyclase 2	Protein Coding	1
798	ADCY3	Adenylate Cyclase 3	Protein Coding	1
799	ADCY5	Adenylate Cyclase 5	Protein Coding	1
800	ADCY6	Adenylate Cyclase 6	Protein Coding	1
801	ADCY7	Adenylate Cyclase 7	Protein Coding	1
802	ADCY8	Adenylate Cyclase 8	Protein Coding	1
803	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	1
804	ADCY9	Adenylate Cyclase 9	Protein Coding	1
805	ADM	Adrenomedullin	Protein Coding	1
806	CSRP1	Cysteine And Glycine Rich Protein 1	Protein Coding	1
807	CTNNB1	Catenin Beta 1	Protein Coding	1
808	ADCY4	Adenylate Cyclase 4	Protein Coding	1
809	FLT4	Fms Related Receptor Tyrosine Kinase 4	Protein Coding	1
810	FN1	Fibronectin 1	Protein Coding	1
811	PANX1	Pannexin 1	Protein Coding	1
812	ABL1	ABL Proto-Oncogene 1, Non-Receptor Tyrosine Kinase	Protein Coding	1
813	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
814	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
815	GJA1	Gap Junction Protein Alpha 1	Protein Coding	1
816	GNA11	G Protein Subunit Alpha 11	Protein Coding	1
817	GNAQ	G Protein Subunit Alpha Q	Protein Coding	1
818	GNAS	GNAS Complex Locus	Protein Coding	1
819	GNB1	G Protein Subunit Beta 1	Protein Coding	1
820	GNB2	G Protein Subunit Beta 2	Protein Coding	1
821	GNB3	G Protein Subunit Beta 3	Protein Coding	1
822	GNG3	G Protein Subunit Gamma 3	Protein Coding	1
823	GNG4	G Protein Subunit Gamma 4	Protein Coding	1
824	GNG5	G Protein Subunit Gamma 5	Protein Coding	1
825	GNG7	G Protein Subunit Gamma 7	Protein Coding	1
826	GNG10	G Protein Subunit Gamma 10	Protein Coding	1
827	GNG11	G Protein Subunit Gamma 11	Protein Coding	1
828	GNGT1	G Protein Subunit Gamma Transducin 1	Protein Coding	1
829	GNGT2	G Protein Subunit Gamma Transducin 2	Protein Coding	1
830	ANXA2	Annexin A2	Protein Coding	1
831	HSPG2	Heparan Sulfate Proteoglycan 2	Protein Coding	1
832	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	1
833	ITGA5	Integrin Subunit Alpha 5	Protein Coding	1
834	ITGAV	Integrin Subunit Alpha V	Protein Coding	1
835	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
836	ITGB3	Integrin Subunit Beta 3	Protein Coding	1
837	KDR	Kinase Insert Domain Receptor	Protein Coding	1
838	MMP14	Matrix Metallopeptidase 14	Protein Coding	1
839	MT1A	Metallothionein 1A	Protein Coding	1
840	MT1B	Metallothionein 1B	Protein Coding	1
841	MT1E	Metallothionein 1E	Protein Coding	1
842	MT1F	Metallothionein 1F	Protein Coding	1
843	MT1G	Metallothionein 1G	Protein Coding	1
844	MT1H	Metallothionein 1H	Protein Coding	1
845	MT1M	Metallothionein 1M	Protein Coding	1
846	MT1X	Metallothionein 1X	Protein Coding	1
847	MT2A	Metallothionein 2A	Protein Coding	1
848	MT3	Metallothionein 3	Protein Coding	1
849	MTF1	Metal Regulatory Transcription Factor 1	Protein Coding	1
850	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	1
851	NOS3	Nitric Oxide Synthase 3	Protein Coding	1
852	P2RX7	Purinergic Receptor P2X 7	Protein Coding	1
853	P2RY2	Purinergic Receptor P2Y2	Protein Coding	1
854	PDE4D	Phosphodiesterase 4D	Protein Coding	1
855	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
856	PECAM1	Platelet And Endothelial Cell Adhesion Molecule 1	Protein Coding	1
857	GNG13	G Protein Subunit Gamma 13	Protein Coding	1
858	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
859	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
860	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	1
861	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
862	GNG2	G Protein Subunit Gamma 2	Protein Coding	1
863	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
864	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
865	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
866	PPP2R2A	Protein Phosphatase 2 Regulatory Subunit Balpha	Protein Coding	1
867	PRR5	Proline Rich 5	Protein Coding	1
868	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
869	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
870	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
871	PRKAR1A	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha	Protein Coding	1
872	PRKAR1B	Protein Kinase CAMP-Dependent Type I Regulatory Subunit Beta	Protein Coding	1
873	PRKAR2A	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Alpha	Protein Coding	1
874	PRKAR2B	Protein Kinase CAMP-Dependent Type II Regulatory Subunit Beta	Protein Coding	1
875	PKN2	Protein Kinase N2	Protein Coding	1
876	GNG12	G Protein Subunit Gamma 12	Protein Coding	1
877	PTK2	Protein Tyrosine Kinase 2	Protein Coding	1
878	PTPN1	Protein Tyrosine Phosphatase Non-Receptor Type 1	Protein Coding	1
879	CACNG7	Calcium Voltage-Gated Channel Auxiliary Subunit Gamma 7	Protein Coding	1
880	TRPV4	Transient Receptor Potential Cation Channel Subfamily V Member 4	Protein Coding	1
881	GNB4	G Protein Subunit Beta 4	Protein Coding	1
882	SNCB	Synuclein Beta	Protein Coding	1
883	SPP1	Secreted Phosphoprotein 1	Protein Coding	1
884	STAT1	Signal Transducer And Activator Of Transcription 1	Protein Coding	1
885	VCL	Vinculin	Protein Coding	1
886	CACNA2D1	Calcium Voltage-Gated Channel Auxiliary Subunit Alpha2delta 1	Protein Coding	1
887	CACNB1	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 1	Protein Coding	1
888	CACNB2	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2	Protein Coding	1
889	CACNB3	Calcium Voltage-Gated Channel Auxiliary Subunit Beta 3	Protein Coding	1
890	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
891	CALM1	Calmodulin 1	Protein Coding	1
892	CALM2	Calmodulin 2	Protein Coding	1
893	CALM3	Calmodulin 3	Protein Coding	1
894	CAPN2	Calpain 2	Protein Coding	1
895	CAPNS1	Calpain Small Subunit 1	Protein Coding	1
896	CAPNS2	Calpain Small Subunit 2	Protein Coding	1
897	MT4	Metallothionein 4	Protein Coding	1
898	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	1
899	CACNA1H	Calcium Voltage-Gated Channel Subunit Alpha1 H	Protein Coding	1
900	GNG8	G Protein Subunit Gamma 8	Protein Coding	1
901	IKBKE	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Epsilon	Protein Coding	1
902	PIEZO1	Piezo Type Mechanosensitive Ion Channel Component 1 (Er Blood Group)	Protein Coding	1

Disorders associated with Cellular responses to stimuli SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Diamond-blackfan anemia	Enrichment	RPL11, RPL15, RPL17, RPL18, RPL26, RPL27, RPL31, RPL35, RPL35A, RPL5, RPL8, RPL9, RPS10, RPS15A, RPS17, RPS19, RPS20, RPS24, RPS26, RPS27, RPS28, RPS29, RPS7, TP53	10.98
2	Diamond-blackfan anemia 1	Enrichment	RPL11, RPL17, RPL35A, RPL5, RPL9, RPS10, RPS17, RPS19, RPS20, RPS24, RPS26, RPS7, TP53	10.10
3	Autosomal dominant secondary polycythemia	Enrichment	EGLN1, EPAS1, EPO, HBA1, HBA2, HBB	7.42
4	Cox deficiency, benign infantile mitochondrial myopathy	Enrichment	COX4I1, COX5A, COX6A2, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3	6.55
5	Breast cancer	Enrichment	AKT1, ATM, BRCA1, CACNA2D1, CDKN2B, DCTN5, ESR1, GNG3, JUN, MRE11, NBN, PALB2, PIK3CA, RAD50, SHC1, TP53	4.58
6	Chronic granulomatous disease	Enrichment	CYBA, CYBB, NCF1, NCF2, NCF4	4.16
7	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, RHEB	4.04
8	Lissencephaly	Enrichment	DYNC1H1, EXOSC3, NBN, TUBA1A, TUBA3E, TUBB2B, TUBB3	3.90
9	Tessadori-bicknell-van haaften neurodevelopmental syndrome 4	Enrichment	H2BC12, H4C1, H4C9	3.71
10	Dedifferentiated liposarcoma	Enrichment	CDK4, HMGA2, MDM2	3.71
11	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	3.71
12	Well-differentiated liposarcoma	Enrichment	CDK4, HMGA2, MDM2	3.71
13	Leukemia, chronic lymphocytic	Enrichment	ATM, P2RX7, POT1, RPS15, TP53	3.61
14	Adrenocortical carcinoma	Enrichment	CDKN2A, CTNNB1, PRKAR1A, TP53	3.58
15	Melanoma, cutaneous malignant 1	Enrichment	ACD, CDK4, CDKN2A, CDKN2B, POT1, TERF2IP	3.57
16	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A, CDKN1B, CDKN2B, CDKN2C	3.46
17	Bladder cancer	Enrichment	ATM, BRCA1, CDKN1A, CDKN2A, CTNNB1, PIK3CA, RB1, TP53	3.34
18	Hereditary breast carcinoma	Enrichment	AKT1, ATM, BRCA1, DCTN5, ESR1, NBN, PALB2, PIK3CA, RAD50, TP53	3.30
19	Protein-deficiency anemia	Enrichment	HBA1, HBA2, HBB, RPL11, RPS26	3.24
20	Glioma susceptibility 1	Enrichment	H3-3A, H3C1, IDH1, TP53	3.18
21	Lip and oral cavity carcinoma	Enrichment	ABL1, CDKN2A, PIK3CA, RB1, TP53	3.16
22	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	3.12
23	Myeloma, multiple	Enrichment	ATM, CDKN2C, CREBBP, DIS3, ERF, H3C1, NCOR2, PIK3R2, RXRA, TP53, YAP1	3.00
24	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	2.95
25	Tetralogy of fallot	Enrichment	CITED2, FLT4, KDR, MT-CO1, MT-CO2, MT-CO3, NOTCH1	2.92
26	Mitochondrial complex iv deficiency, nuclear type 1	Enrichment	COX4I1, COX6B1, COX8A, MT-CO1, MT-CO2, MT-CO3	2.89
27	Inherited cancer-predisposing syndrome	Enrichment	ATM, BRCA1, CDK4, CDKN1B, CDKN2A, DCTN5, EZH2, FLCN, MRE11, NBN, PALB2, POT1, RAD50, RB1, RPS20, TP53, VHL	2.77
28	Polymicrogyria	Enrichment	AKT3, DYNC1H1, EHMT1, PSMC3	2.74
29	Adult hepatocellular carcinoma	Enrichment	CTNNB1, EGF, PIK3CA, TP53	2.73
30	Primary hyperaldosteronism	Enrichment	CACNA1H, GNAS, NR3C1, TP53	2.73
31	Prostate cancer	Enrichment	AR, ATM, BRCA1, NBN, PALB2, PIK3CA, TP53	2.62
32	Pancreatic cancer	Enrichment	ATM, BRCA1, CDKN2A, NBN, PALB2, TP53	2.58
33	Capillary malformations, congenital	Enrichment	GNA11, GNAQ, PIK3CA	2.58
34	Ovarian cancer	Enrichment	AKT1, AR, ATM, BRCA1, CDKN1B, CDKN2A, CTNNB1, FLCN, MRE11, NBN, PALB2, PIK3CA, RAD50, RB1, TP53	2.57
35	Genetic steroid-resistant nephrotic syndrome	Enrichment	NUP107, NUP133, NUP160, NUP205, NUP37, NUP85, NUP93	2.52
36	Fanconi anemia, complementation group n	Enrichment	DCTN5, PALB2	2.47
37	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3, NR3C2	2.47
38	Pancreatic cancer 3	Enrichment	DCTN5, PALB2	2.47
39	Tessadori-bicknell-van haaften neurodevelopmental syndrome 1	Enrichment	H4C1, H4C3	2.47
40	Tessadori-bicknell-van haaften neurodevelopmental syndrome 2	Enrichment	H4C1, H4C11	2.47
41	Erythrocytosis, familial, 3	Enrichment	EGLN1, EPAS1	2.47
42	Witteveen-kolk syndrome	Enrichment	SIN3A, SIN3B	2.47
43	Bryant-li-bhoj neurodevelopmental syndrome 2	Enrichment	H3-3A, H3-3B	2.47
44	Spastic paraplegia-paget disease of bone syndrome	Enrichment	SQSTM1, VCP	2.47
45	Li-fraumeni syndrome	Enrichment	CDKN2A, MDM2, TP53	2.46
46	Pontocerebellar hypoplasia, type 1e	Enrichment	EXOSC3, EXOSC8, EXOSC9	2.46
47	Methemoglobinemia, beta type	Enrichment	HBA1, HBA2, HBB	2.46
48	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	2.46
49	Hoyeraal-hreidarsson syndrome	Enrichment	ACD, PARN, TINF2	2.46
50	Diffuse large b-cell lymphoma	Enrichment	CREBBP, NBN, STAT3, TBL1XR1, TP53	2.41
51	Hereditary breast ovarian cancer syndrome	Enrichment	ATM, BRCA1, DCTN5, HERPUD1, MRE11, NBN, PALB2, RAD50, TP53	2.38
52	Osteopathia striata with cranial sclerosis	Enrichment	AMER1, CTNNB1	2.35
53	Pigmented nodular adrenocortical disease, primary, 1	Enrichment	GNAS, PRKAR1A	2.35
54	Hallermann-streiff syndrome	Enrichment	CHD6, GJA1	2.35
55	Acrodysostosis	Enrichment	PDE4D, PRKAR1A	2.35
56	Fibrolamellar carcinoma	Enrichment	DNAJB1, PRKACA	2.35
57	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	2.35
58	Glucosephosphate dehydrogenase deficiency	Enrichment	G6PD, IKBKG	2.35
59	Phakomatosis cesioflammea	Enrichment	GNA11, GNAQ	2.35
60	Colorectal cancer	Enrichment	AKT1, AMER1, ATM, BRCA1, CTNNB1, DCTN5, EP300, FLCN, MT-CO1, NFE2L2, PALB2, PIK3CA, TP53	2.32
61	Breast adenocarcinoma	Enrichment	AKT1, PIK3CA, TP53	2.30
62	Breast-ovarian cancer, familial 1	Enrichment	ATM, BRCA1, NBN, PALB2	2.27
63	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B, WFS1	2.24
64	Epilepsy, familial focal, with variable foci 1	Enrichment	DEPDC5, NPRL2, NPRL3	2.24
65	Renal cell carcinoma, papillary, 1	Enrichment	ATM, MTOR, VHL	2.24
66	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A, IDH1, VHL	2.24
67	Gastric cancer	Enrichment	ATM, BRCA1, CDK4, CDKN2A, NBN, PALB2, PIK3CA, TP53	2.17
68	Gallbladder cancer	Enrichment	CTNNB1, PIK3CA, TP53	2.08
69	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	ABL1, CDKN2A, TP53	2.08
70	Heinz body anemias	Enrichment	HBA1, HBA2, HBB	2.05
71	Heinz body anemia	Enrichment	HBA1, HBA2, HBB	2.05
72	Renal cell carcinoma, nonpapillary	Enrichment	ATM, FLCN, MTOR, VHL	2.03
73	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	2.01
74	Weaver syndrome	Enrichment	EZH2, SUZ12	2.01
75	Menkes disease	Enrichment	ATP7A, EIF2AK3	2.01
76	Osteogenic sarcoma	Enrichment	RB1, TP53	2.01
77	Diamond-blackfan anemia 15 with mandibulofacial dysostosis	Enrichment	RPS26, RPS28	2.01
78	Deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome	Enrichment	ATP6V1B2, ATP6V1C1	2.01
79	Breast-ovarian cancer, familial 5	Enrichment	DCTN5, PALB2	2.01
80	Tessadori-bicknell-van haaften neurodevelopmental syndrome 3	Enrichment	H4C1, H4C5	2.01
81	Autosomal recessive cutis laxa type ii classic type	Enrichment	ATP6V1A, ATP6V1E1	2.01
82	High-grade b-cell lymphoma double-hit/triple-hit	Enrichment	BCL2, MYC	2.01
83	Alpha thalassemia-intellectual disability syndrome type 1	Enrichment	HBA1, HBA2	2.01
84	Potocki-lupski syndrome	Enrichment	FLCN, RAI1	2.01
85	Squamous cell carcinoma	Enrichment	RB1, TP53	2.01
86	Adenocarcinoma	Enrichment	ATM, TP53	2.01
87	Bone osteosarcoma	Enrichment	RB1, TP53	2.01
88	Myxofibrosarcoma	Enrichment	CREB3L1, CREB3L2	2.01
89	Enchondromatosis	Enrichment	HIF1A, IDH1	2.01
90	Hyper-ige syndrome 1, autosomal dominant, with recurrent infections	Enrichment	ITGB3, STAT3	1.90
91	Nasopharyngeal carcinoma	Enrichment	NFKBIA, TP53	1.90
92	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	GNA11, PIK3CA	1.90
93	Anus, imperforate	Enrichment	CTNNB1, MAP4K4	1.90
94	Anastomosing haemangioma	Enrichment	GNA11, GNAQ	1.90
95	Keratoacanthoma	Enrichment	NOTCH1, PIK3CA	1.90
96	Mitochondrial myopathy, infantile, transient	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.90
97	Alpha-thalassemia	Enrichment	HBA1, HBA2, HBB	1.90
98	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B, WFS1	1.90
99	Colonic benign neoplasm	Enrichment	ATM, MRE11, PALB2	1.90
100	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	1.89
101	Hepatocellular carcinoma	Enrichment	CTNNB1, NBN, PIK3CA, RAD50, TP53	1.88
102	Myocardial infarction	Enrichment	ESR1, GCLC, GCLM, ITGB3, PSMA6	1.88
103	Familial colorectal cancer	Enrichment	MT-CO1, MT-CO2, TP53	1.76
104	Mitochondrial myopathy with reversible cytochrome c oxidase deficiency	Enrichment	MT-CO1, MT-CO2, MT-CO3	1.76
105	Coronary heart disease 5	Enrichment	APOB, G6PD, IKBKG	1.74
106	Gliosarcoma	Enrichment	ATM, IDH1, NFKBIA, TP53	1.73
107	Small cell cancer of the lung	Enrichment	RB1, TP53	1.73
108	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	1.73
109	Focal cortical dysplasia, type ii	Enrichment	MTOR, RHEB	1.73
110	Erythrocytosis, familial, 7	Enrichment	HBA1, HBA2	1.73
111	Hemoglobin h disease	Enrichment	HBA1, HBA2	1.73
112	Nijmegen breakage syndrome-like disorder	Enrichment	MRE11, RAD50	1.73
113	Hereditary recurrent myoglobinuria	Enrichment	MT-CO1, MT-CO3	1.73
114	Isolated focal cortical dysplasia type ii	Enrichment	MTOR, RHEB	1.73
115	Familial infantile bilateral striatal necrosis	Enrichment	NUP54, NUP62	1.73
116	Uterine corpus cancer	Enrichment	ATM, BRCA1, PALB2	1.64
117	Giant cell glioblastoma	Enrichment	ATM, IDH1, NFKBIA, TP53	1.64
118	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	1.62
119	Autosomal dominant macrothrombocytopenia	Enrichment	ITGB3, TUBA8, TUBB1	1.61
120	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A, IDH1	1.52
121	Thalassemia	Enrichment	HBA2, HBB	1.52
122	Histiocytoid hemangioma	Enrichment	FOS, LMNA	1.52
123	Endometrial stromal sarcoma	Enrichment	SUZ12, YWHAE	1.52
124	Leukemia, acute lymphoblastic	Enrichment	CDKN2A, GNB1, NBN	1.49
125	Dementia, lewy body	Enrichment	SNCB, VCP	1.41
126	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	G6PD, IKBKG	1.41
127	Female infertility due to oocyte meiotic arrest	Enrichment	PANX1, TUBB8	1.41
128	Genetic motor neuron disease	Enrichment	DCTN1, TRPV4	1.41
129	Osteogenesis imperfecta, type i	Enrichment	MBTPS2, P4HB	1.36
130	Renal tubular acidosis, distal, 1	Enrichment	ATP6V1B1, ATP6V1C2	1.36
131	Rubinstein-taybi syndrome 1	Enrichment	CREBBP, EP300	1.36
132	Chromosome 16p13.3 deletion syndrome, proximal	Enrichment	CREBBP, EP300	1.36
133	Distal renal tubular acidosis	Enrichment	ATP6V1B1, ATP6V1C2	1.36
134	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1, VHL	1.36
135	Acute promyelocytic leukemia	Enrichment	PRKAR1A, STAT3, TBL1XR1	1.29
136	Non-immune hydrops fetalis	Enrichment	CALCRL, FLT4, HBA2, PIEZO1, UBN1	1.29
137	Rare genetic intellectual disability	Enrichment	CREBBP, EP300, MTOR	1.28
138	Klippel-trenaunay-weber syndrome	Enrichment	GNAQ, PIK3CA	1.26
139	Melanoma, uveal	Enrichment	GNA11, GNAQ	1.26
140	Hemangioma, capillary infantile	Enrichment	FLT4, KDR	1.26
141	Lung squamous cell carcinoma	Enrichment	CDKN2A, PIK3CA	1.26
142	Lung cancer	Enrichment	BRCA1, NFE2L2, PALB2, PIK3CA, PPP2R1B	1.24
143	Cole-carpenter syndrome 1	Enrichment	P4HB	1.23
144	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.23
145	Leukodystrophy, demyelinating, adult-onset, autosomal dominant, typical	Enrichment	LMNB1	1.23
146	Proteus syndrome	Enrichment	AKT1	1.23
147	Cataract 41	Enrichment	WFS1	1.23
148	Perry syndrome	Enrichment	DCTN1	1.23
149	Deafness, congenital, with onychodystrophy, autosomal dominant	Enrichment	ATP6V1B2	1.23
150	Paget disease of bone 3	Enrichment	SQSTM1	1.23
151	Pneumothorax, primary spontaneous	Enrichment	FLCN	1.23
152	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.23
153	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	1.23
154	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	Enrichment	HDAC6	1.23
155	Linear skin defects with multiple congenital anomalies 2	Enrichment	COX7B	1.23
156	Olmsted syndrome, x-linked	Enrichment	MBTPS2	1.23
157	Prostate cancer, hereditary, x-linked 3	Enrichment	AR	1.23
158	Wolfram syndrome 1	Enrichment	WFS1	1.23
159	Coffin-lowry syndrome	Enrichment	RPS6KA3	1.23
160	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.23
161	Intellectual developmental disorder, x-linked, syndromic 35	Enrichment	RPL10	1.23
162	Osteogenesis imperfecta, type xix	Enrichment	MBTPS2	1.23
163	Deafness, autosomal dominant 6	Enrichment	WFS1	1.23
164	Androgen insensitivity, partial	Enrichment	AR	1.23
165	Spermatogenic failure, x-linked, 9	Enrichment	RBBP7	1.23
166	Keratosis follicularis spinulosa decalvans, x-linked	Enrichment	MBTPS2	1.23
167	Asplenia, isolated congenital	Enrichment	RPSA	1.23
168	Neuronopathy, distal hereditary motor, x-linked	Enrichment	ATP7A	1.23
169	Hypothyroidism, congenital, nongoitrous, 8	Enrichment	TBL1X	1.23
170	Immunodeficiency 34	Enrichment	CYBB	1.23
171	Immunodeficiency due to defect in mapbp-interacting protein	Enrichment	LAMTOR2	1.23
172	Myoglobinuria, recurrent	Enrichment	MT-CO1	1.23
173	Codas syndrome	Enrichment	LONP1	1.23
174	Hypomagnesemia 4, renal	Enrichment	EGF	1.23
175	Craniosynostosis 4	Enrichment	ERF	1.23
176	Cinca syndrome	Enrichment	NLRP3	1.23
177	46,xy sex reversal 5	Enrichment	CBX2	1.23
178	Parkinson disease 13, autosomal dominant	Enrichment	HTRA2	1.23
179	Diamond-blackfan anemia 10	Enrichment	RPS26	1.23
180	Keratoendotheliitis fugax hereditaria	Enrichment	NLRP3	1.23
181	Melanoma, cutaneous malignant 3	Enrichment	CDK4	1.23
182	Muscular dystrophy, limb-girdle, autosomal dominant 1	Enrichment	DNAJB6	1.23
183	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	1.23
184	Cardiomyopathy, dilated, 1ii	Enrichment	CRYAB	1.23
185	Microvascular complications of diabetes 6	Enrichment	SOD2	1.23
186	Familial cold autoinflammatory syndrome 1	Enrichment	NLRP3	1.23
187	Hypotrichosis 12	Enrichment	RPL21	1.23
188	Spinocerebellar ataxia, autosomal recessive 7	Enrichment	TPP1	1.23
189	Uric acid concentration, serum, quantitative trait locus 1	Enrichment	ABCG2	1.23
190	Diamond-blackfan anemia 13	Enrichment	RPS29	1.23
191	Seckel syndrome 1	Enrichment	ATR	1.23
192	Dyskeratosis congenita, autosomal recessive 6	Enrichment	PARN	1.23
193	Microcephaly 12, primary, autosomal recessive	Enrichment	CDK6	1.23
194	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	1.23
195	Glucocorticoid resistance, generalized	Enrichment	NR3C1	1.23
196	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.23
197	Even-plus syndrome	Enrichment	HSPA9	1.23
198	Short stature, developmental delay, and congenital heart defects	Enrichment	TKT	1.23
199	Osteogenesis imperfecta, type xvi	Enrichment	CREB3L1	1.23
200	Microcephaly 11, primary, autosomal recessive	Enrichment	PHC1	1.23
201	Anemia, congenital, nonspherocytic hemolytic, 7	Enrichment	GCLC	1.23
202	Wolfram-like syndrome, autosomal dominant	Enrichment	WFS1	1.23
203	Cutis laxa, autosomal recessive, type iid	Enrichment	ATP6V1A	1.23
204	Leukodystrophy, hypomyelinating, 13	Enrichment	HIKESHI	1.23
205	Microvascular complications of diabetes 2	Enrichment	EPO	1.23
206	Cardiomyopathy, dilated, 1hh	Enrichment	BAG3	1.23
207	Hyperbiliverdinemia	Enrichment	BLVRA	1.23
208	Hyperthyroxinemia, familial dysalbuminemic	Enrichment	ALB	1.23
209	Accelerated tumor formation	Enrichment	MDM2	1.23
210	Anemia, sideroblastic, 4	Enrichment	HSPA9	1.23
211	Diamond-blackfan anemia 7	Enrichment	RPL11	1.23
212	Autoimmune lymphoproliferative syndrome, type iii	Enrichment	PRKCD	1.23
213	Muckle-wells syndrome	Enrichment	NLRP3	1.23
214	Tumor predisposition syndrome 3	Enrichment	POT1	1.23
215	Diamond-blackfan anemia 18	Enrichment	RPL18	1.23
216	Fetal akinesia deformation sequence 4	Enrichment	NUP88	1.23
217	Global developmental delay with speech and behavioral abnormalities	Enrichment	TNRC6B	1.23
218	Hypertriglyceridemia 2	Enrichment	CREB3L3	1.23
219	Neurodevelopmental disorder with achalasia, polyneuropathy, and alacrima	Enrichment	NDC1	1.23
220	Halperin-birk syndrome	Enrichment	SEC31A	1.23
221	Spondyloepimetaphyseal dysplasia, isidor-toutain type	Enrichment	RPL13	1.23
222	Luo-schoch-yamamoto syndrome	Enrichment	RNF2	1.23
223	Anemia, congenital, nonspherocytic hemolytic, 10	Enrichment	GSR	1.23
224	Spermatogenic failure 63	Enrichment	RPL10L	1.23
225	Atrial fibrillation, familial, 15	Enrichment	NUP155	1.23
226	Myopathy, distal, with rimmed vacuoles	Enrichment	SQSTM1	1.23
227	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 6	Enrichment	RPA1	1.23
228	Noonan syndrome 13	Enrichment	MAPK1	1.23
229	Spinocerebellar ataxia, autosomal recessive 32	Enrichment	PRDX3	1.23
230	Mitochondrial complex iv deficiency, nuclear type 18	Enrichment	COX6A2	1.23
231	Pontocerebellar hypoplasia, type 1f	Enrichment	EXOSC1	1.23
232	Mehmo syndrome	Enrichment	EIF2S3	1.23
233	Deafness, autosomal dominant 34, with or without inflammation	Enrichment	NLRP3	1.23
234	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.23
235	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	1.23
236	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Enrichment	SQSTM1	1.23
237	Autism x-linked 5	Enrichment	RPL10	1.23
238	Cerebellar ataxia, brain abnormalities, and cardiac conduction defects	Enrichment	EXOSC5	1.23
239	Dystonia 37, early-onset, with striatal lesions	Enrichment	NUP54	1.23
240	Combined oxidative phosphorylation deficiency 29	Enrichment	TXN2	1.23
241	Developmental and epileptic encephalopathy 111	Enrichment	DEPDC5	1.23
242	Cardiomyopathy, dilated, 2f	Enrichment	BAG5	1.23
243	Nephrotic syndrome, type 19	Enrichment	NUP160	1.23
244	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 8	Enrichment	POT1	1.23
245	Intellectual developmental disorder, autosomal recessive 63	Enrichment	CAMK2A	1.23
246	Intellectual developmental disorder, autosomal dominant 54	Enrichment	CAMK2B	1.23
247	Lessel-kubisch syndrome	Enrichment	MDM2	1.23
248	Diamond-blackfan anemia 20	Enrichment	RPS15A	1.23
249	Bone marrow failure syndrome 6	Enrichment	MDM4	1.23
250	Silver-russell syndrome 5	Enrichment	HMGA2	1.23
251	Deafness, autosomal dominant 77	Enrichment	ABCC1	1.23
252	Bone marrow failure syndrome 5	Enrichment	TP53	1.23
253	Progesterone resistance	Enrichment	PGR	1.23
254	Immunoskeletal dysplasia with neurodevelopmental abnormalities	Enrichment	EXTL3	1.23
255	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.23
256	Myopathy, myofibrillar, 2b, infantile-onset	Enrichment	CRYAB	1.23
257	Immunodeficiency, developmental delay, and hypohomocysteinemia	Enrichment	NFE2L2	1.23
258	Birt-hogg-dube syndrome	Enrichment	FLCN	1.23
259	Papilloma of choroid plexus	Enrichment	TP53	1.23
260	Galloway-mowat syndrome 8	Enrichment	NUP133	1.23
261	Basal cell carcinoma 7	Enrichment	TP53	1.23
262	Hemoglobin, high altitude adaptation	Enrichment	EGLN1	1.23
263	Imagawa-matsumoto syndrome	Enrichment	SUZ12	1.23
264	Intellectual developmental disorder, x-linked 19	Enrichment	RPS6KA3	1.23
265	Leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome	Enrichment	EIF2AK1	1.23
266	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	1.23
267	Diamond-blackfan anemia 3	Enrichment	RPS24	1.23
268	Anaplastic thyroid carcinoma	Enrichment	TP53	1.23
269	Occipital horn syndrome	Enrichment	ATP7A	1.23
270	T-cell large granular lymphocyte leukemia	Enrichment	STAT3	1.23
271	Infant-type hemispheric glioma	Enrichment	BRCA1	1.23
272	Adult onset demyelinating leukodystrophy	Enrichment	LMNB1	1.23
273	Nephrotic syndrome, type 13	Enrichment	NUP205	1.23
274	Ferguson-bonni neurodevelopmental syndrome	Enrichment	ANAPC7	1.23
275	Diamond-blackfan anemia 8	Enrichment	RPS7	1.23
276	Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language	Enrichment	MEF2C	1.23
277	Intellectual developmental disorder, autosomal recessive 54	Enrichment	TNIK	1.23
278	Hypertension, early-onset, autosomal dominant, with severe exacerbation in pregnancy	Enrichment	NR3C2	1.23
279	Developmental and epileptic encephalopathy 109	Enrichment	FZR1	1.23
280	Charcot-marie-tooth disease, axonal, type 2l	Enrichment	HSPB8	1.23
281	Myopathy, myofibrillar, 2a, adult-onset	Enrichment	CRYAB	1.23
282	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.23
283	Microvascular complications of diabetes 1	Enrichment	VEGFA	1.23
284	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.23
285	Major affective disorder 7	Enrichment	XBP1	1.23
286	Myopathy, myofibrillar, 6	Enrichment	BAG3	1.23
287	Glucocorticoid deficiency 5	Enrichment	TXNRD2	1.23
288	Ataxia-telangiectasia-like disorder 1	Enrichment	MRE11	1.23
289	Microcephaly 24, primary, autosomal recessive	Enrichment	NUP37	1.23
290	Spastic paraplegia 13, autosomal dominant	Enrichment	HSPD1	1.23
291	Neuronopathy, distal hereditary motor, autosomal dominant 14	Enrichment	DCTN1	1.23
292	Galloway-mowat syndrome 7	Enrichment	NUP107	1.23
293	Rothmund-thomson syndrome, type 1	Enrichment	ANAPC1	1.23
294	Neuroendocrine tumor	Enrichment	CDKN1B	1.23
295	Acatalasemia	Enrichment	CAT	1.23
296	Stature quantitative trait locus 9	Enrichment	HMGA2	1.23
297	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.23
298	Diamond-blackfan anemia 4	Enrichment	RPS17	1.23
299	Erythrocytosis, familial, 4	Enrichment	EPAS1	1.23
300	High-grade astrocytoma with piloid features	Enrichment	POT1	1.23
301	Cutaneous telangiectasia and cancer syndrome, familial	Enrichment	ATR	1.23
302	Glutathione peroxidase deficiency	Enrichment	GPX1	1.23
303	Retinal arterial macroaneurysm with supravalvular pulmonic stenosis	Enrichment	IGFBP7	1.23
304	Warsaw breakage syndrome	Enrichment	DDX11	1.23
305	Diamond-blackfan anemia 11	Enrichment	RPL26	1.23
306	Cerebroretinal microangiopathy with calcifications and cysts 3	Enrichment	POT1	1.23
307	Metaphyseal enchondromatosis with d-2-hydroxyglutaric aciduria	Enrichment	IDH1	1.23
308	Zimmermann-laband syndrome 2	Enrichment	ATP6V1B2	1.23
309	Cowden syndrome 6	Enrichment	AKT1	1.23
310	Nephrotic syndrome, type 12	Enrichment	NUP93	1.23
311	Myopathy, myofibrillar, 13, with rimmed vacuoles	Enrichment	HSPB8	1.23
312	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	1.23
313	Cataract, alopecia, oral mucosal disorder, and psoriasis-like syndrome	Enrichment	MBTPS1	1.23
314	Microcephaly 26, primary, autosomal dominant	Enrichment	LMNB1	1.23
315	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	1.23
316	Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 4	Enrichment	PARN	1.23
317	Achromatopsia 7	Enrichment	ATF6	1.23
318	Pontocerebellar hypoplasia, type 1c	Enrichment	EXOSC8	1.23
319	Endometrial serous adenocarcinoma	Enrichment	ATM	1.23
320	Macular degeneration, age-related, 10	Enrichment	TLR4	1.23
321	Neurocardiofaciodigital syndrome	Enrichment	MAPKAPK5	1.23
322	Corneal dystrophy, punctiform and polychromatic pre-descemet	Enrichment	PRDX3	1.23
323	Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis	Enrichment	COX4I2	1.23
324	Macular dystrophy, patterned, 3	Enrichment	MAPKAPK3	1.23
325	Ductal carcinoma in situ	Enrichment	TP53	1.23
326	Atrial septal defect 8	Enrichment	CITED2	1.23
327	Blood group, junior system	Enrichment	ABCG2	1.23
328	Nephrotic syndrome, type 11	Enrichment	NUP107	1.23
329	Spondyloepimetaphyseal dysplasia	Enrichment	RPL13	1.23
330	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	1.23
331	Heme oxygenase 1 deficiency	Enrichment	HMOX1	1.23
332	Erythrocytosis, familial, 5	Enrichment	EPO	1.23
333	Pontocerebellar hypoplasia, type 1d	Enrichment	EXOSC9	1.23
334	Epilepsy, familial adult myoclonic, 6	Enrichment	TNRC6A	1.23
335	Dync1h1-related disorders	Enrichment	DYNC1H1	1.23
336	Chitayat syndrome	Enrichment	ERF	1.23
337	Autoimmune disease, multisystem, infantile-onset, 1	Enrichment	STAT3	1.23
338	Optic atrophy 11	Enrichment	YME1L1	1.23
339	Congenital anomalies of kidney and urinary tract 3	Enrichment	NRIP1	1.23
340	Diamond-blackfan anemia 19	Enrichment	RPL35	1.23
341	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	1.23
342	Cohen-gibson syndrome	Enrichment	EED	1.23
343	Encephalopathy, acute, infection-induced 9	Enrichment	NUP214	1.23
344	Atypical werner syndrome	Enrichment	LMNA	1.23
345	Bryant-li-bhoj neurodevelopmental syndrome 1	Enrichment	H3-3A	1.23
346	Sandestig-stefanova syndrome	Enrichment	NUP188	1.23
347	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.23
348	Okur-chung neurodevelopmental syndrome	Enrichment	CSNK2A1	1.23
349	Short stature, hearing loss, retinitis pigmentosa, and distinctive facies	Enrichment	EXOSC2	1.23
350	Congenital analbuminemia	Enrichment	ALB	1.23
351	Mitochondrial complex iv deficiency, nuclear type 7	Enrichment	COX6B1	1.23
352	Mitochondrial complex iv deficiency, nuclear type 20	Enrichment	COX5A	1.23
353	Cutis laxa, autosomal recessive, type iic	Enrichment	ATP6V1E1	1.23
354	Ovarian dysgenesis 6	Enrichment	NUP107	1.23
355	Intellectual developmental disorder, autosomal recessive 79	Enrichment	TPR	1.23
356	Menke-hennekam syndrome 1	Enrichment	CREBBP	1.23
357	Nephrotic syndrome, type 18	Enrichment	NUP133	1.23
358	Ifap syndrome	Enrichment	MBTPS2	1.23
359	Neurodevelopmental disorder with microcephaly and structural brain anomalies	Enrichment	DYNC1I2	1.23
360	Brachycephaly, trichomegaly, and developmental delay	Enrichment	RPS23	1.23
361	Cardiomyopathy, dilated, 2d	Enrichment	RPL3L	1.23
362	Mitochondrial complex iv deficiency, nuclear type 16	Enrichment	COX4I1	1.23
363	Mitochondrial complex iv deficiency, nuclear type 21	Enrichment	COXFA4	1.23
364	Intellectual developmental disorder, autosomal dominant 53	Enrichment	CAMK2A	1.23
365	Multisystem proteinopathy	Enrichment	VCP	1.23
366	Mitochondrial complex iv deficiency, nuclear type 15	Enrichment	COX8A	1.23
367	Polycystic kidney disease 6 with or without polycystic liver disease	Enrichment	DNAJB11	1.23
368	Sickle cell-beta-thalassemia disease syndrome	Enrichment	HBB	1.23
369	Thyroid gland undifferentiated carcinoma	Enrichment	TP53	1.23
370	Intellectual developmental disorder, autosomal dominant 59	Enrichment	CAMK2G	1.23
371	Trilateral retinoblastoma	Enrichment	RB1	1.23
372	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.23
373	Intellectual developmental disorder with or without peripheral neuropathy	Enrichment	NUDT2	1.23
374	Small-cell carcinoma of the ovary of hypercalcemic type	Enrichment	TP53	1.23
375	Analbuminemia	Enrichment	ALB	1.23
376	Charcot-marie-tooth disease, recessive intermediate d	Enrichment	COX6A1	1.23
377	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	1.23
378	Cdkn2a cancer predisposition	Enrichment	CDKN2A	1.23
379	Congenital myopathy 26	Enrichment	TUBA4A	1.23
380	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	1.23
381	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	1.23
382	Mandibuloacral dysplasia	Enrichment	LMNA	1.23
383	Atrioventricular block	Enrichment	LMNA	1.23
384	Rubinstein-taybi syndrome due to 16p13.3 microdeletion	Enrichment	CREBBP	1.23
385	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	1.23
386	Symptomatic form of coffin-lowry syndrome in female carriers	Enrichment	RPS6KA3	1.23
387	Craniodigital syndrome and intellectual disability syndrome	Enrichment	CSNK2B	1.23
388	Charcot-marie-tooth disease, axonal, type 2jj	Enrichment	BAG3	1.23
389	Capillary hemangioma	Enrichment	AKT3	1.23
390	Diffuse pediatric-type high-grade glioma, h3-wildtype and idh-wildtype	Enrichment	TP53	1.23
391	Pancreatic insufficiency-anemia-hyperostosis syndrome	Enrichment	COX4I2	1.23
392	Sinus venosus atrial septal defect	Enrichment	CITED2	1.23
393	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	1.23
394	Epilepsy, early-onset, 3, with or without developmental delay	Enrichment	ATP6V0C	1.23
395	Chromosome 15q24 deletion syndrome	Enrichment	SIN3A	1.23
396	Hemoglobin c-beta-thalassemia syndrome	Enrichment	HBB	1.23
397	Pseudohyperaldosteronism type 2	Enrichment	NR3C2	1.23
398	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	Enrichment	RPL10	1.23
399	Wolfram-like syndrome	Enrichment	WFS1	1.23
400	Stat3-related early-onset multisystem autoimmune disease	Enrichment	STAT3	1.23
401	Basal cell carcinoma	Enrichment	PALB2	1.23
402	5q14.3 microdeletion syndrome	Enrichment	MEF2C	1.23
403	B-cell non-hodgkin lymphoma	Enrichment	ATM	1.23
404	Choroid plexus cancer	Enrichment	TP53	1.23
405	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.23
406	Neuronopathy, distal hereditary motor, autosomal dominant 15	Enrichment	BAG3	1.23
407	Congenital nonspherocytic hemolytic anemia	Enrichment	G6PD	1.23
408	Autosomal dominant spastic ataxia	Enrichment	MT-CO3	1.23
409	Complete atrioventricular septal defect without ventricular hypoplasia	Enrichment	MEF2C	1.23
410	Sickle cell s-o arab disease	Enrichment	HBB	1.23
411	Complete androgen insensitivity syndrome	Enrichment	AR	1.23
412	Pure red-cell aplasia	Enrichment	RPS26	1.23
413	Capillary leak syndrome	Enrichment	TLN1	1.23
414	Sickle cell-beta zero-thalassemia	Enrichment	HBB	1.23
415	Menke-hennekam syndrome	Enrichment	CREBBP	1.23
416	Autosomal dominant deafness - onychodystrophy syndrome	Enrichment	ATP6V1B2	1.23
417	Familial spontaneous pneumothorax	Enrichment	FLCN	1.23
418	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	Enrichment	HSPB8	1.23
419	Cryopyrin associated periodic syndrome	Enrichment	NLRP3	1.23
420	Diamond-blackfan anemia 22	Enrichment	RPL17	1.23
421	Pleomorphic xanthoastrocytoma	Enrichment	TP53	1.23
422	Immunodeficiency 93 and hypertrophic cardiomyopathy	Enrichment	FNIP1	1.23
423	Bresek syndrome	Enrichment	MBTPS2	1.23
424	C11orf73-related autosomal recessive hypomyelinating leukodystrophy	Enrichment	HIKESHI	1.23
425	Familial amyloid nephropathy with urticaria and deafness	Enrichment	NLRP3	1.23
426	Lmna-related cardiocutaneous progeria syndrome	Enrichment	LMNA	1.23
427	Familial acute necrotizing encephalopathy	Enrichment	RANBP2	1.23
428	Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome	Enrichment	ATR	1.23
429	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	Enrichment	RPL10	1.23
430	Skeletal dysplasia-t-cell immunodeficiency-developmental delay syndrome	Enrichment	EXTL3	1.23
431	Sickle cell s-d punjab disease	Enrichment	HBB	1.23
432	Kptn-related disorder	Enrichment	KPTN	1.23
433	Mef2c-related disorder	Enrichment	MEF2C	1.23
434	Primary immunodeficiency syndrome due to p14 deficiency	Enrichment	LAMTOR2	1.23
435	Autosomal semi-dominant severe lipodystrophic laminopathy	Enrichment	LMNA	1.23
436	Sickle cell s-c disease	Enrichment	HBB	1.23
437	Silver-russell syndrome due to maternal uniparental disomy of chromosome 7	Enrichment	GRB10	1.23
438	Chronic lymphoproliferative disorder of natural killer cells	Enrichment	STAT3	1.23
439	Egf-related primary hypomagnesemia with intellectual disability	Enrichment	EGF	1.23
440	Distal 17p13.3 microdeletion syndrome	Enrichment	YWHAE	1.23
441	Wfs1 spectrum disorder	Enrichment	WFS1	1.23
442	Tubular renal disease-cardiomyopathy syndrome	Enrichment	RRAGD	1.23
443	Primary peritoneal carcinoma	Enrichment	BRCA1	1.23
444	Sickle cell s-e disease	Enrichment	HBB	1.23
445	Autosomal recessive axonal hereditary motor and sensory neuropathy	Enrichment	LMNA	1.23
446	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.23
447	Laminopathy	Enrichment	LMNA	1.23
448	Retinal hemangioblastoma	Enrichment	VHL	1.23
449	Homozygous hemoglobin o arab disease	Enrichment	HBB	1.23
450	Sickle cell s-other specified hemoglobin variant	Enrichment	HBB	1.23
451	Lung oat cell carcinoma	Enrichment	RB1	1.23
452	Beta-thalassemia	Enrichment	HBA2, HBB	1.23
453	Beta-thalassemia major	Enrichment	HBA2, HBB	1.23
454	Essential thrombocythemia	Enrichment	CALR, TP53	1.23
455	Familial isolated dilated cardiomyopathy	Enrichment	BAG3, BAG5, CRYAB, LMNA, RPL3L, TXNRD2, VCL	1.22
456	Malaria	Enrichment	G6PD, HBB, IKBKG, MAPKAPK3	1.20
457	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ABL1, CDKN2A, MYC, NUP214	1.20
458	Palmoplantar keratoderma and congenital alopecia 1	Enrichment	GJA1	1.18
459	Metatropic dysplasia	Enrichment	TRPV4	1.18
460	Macrodactyly	Enrichment	PIK3CA	1.18
461	Hypocalciuric hypercalcemia, familial, type ii	Enrichment	GNA11	1.18
462	Acrodysostosis 1 with or without hormone resistance	Enrichment	PRKAR1A	1.18
463	Parastremmatic dwarfism	Enrichment	TRPV4	1.18
464	Hypoplastic left heart syndrome 1	Enrichment	GJA1	1.18
465	Spondylometaphyseal dysplasia, kozlowski type	Enrichment	TRPV4	1.18
466	Incontinentia pigmenti	Enrichment	IKBKG	1.18
467	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	1.18
468	Neuronopathy, distal hereditary motor, autosomal dominant 8	Enrichment	TRPV4	1.18
469	Pseudohypoparathyroidism, type ic	Enrichment	GNAS	1.18
470	Carney complex, type 1	Enrichment	PRKAR1A	1.18
471	Brugada syndrome 4	Enrichment	CACNB2	1.18
472	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.18
473	Oculodentodigital dysplasia	Enrichment	GJA1	1.18
474	Osseous heteroplasia, progressive	Enrichment	GNAS	1.18
475	Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development	Enrichment	YAP1	1.18
476	Brachyolmia type 3	Enrichment	TRPV4	1.18
477	Sodium serum level quantitative trait locus 1	Enrichment	TRPV4	1.18
478	Cowden syndrome 5	Enrichment	PIK3CA	1.18
479	Spondyloepiphyseal dysplasia, maroteaux type	Enrichment	TRPV4	1.18
480	Dyskinesia with orofacial involvement, autosomal dominant	Enrichment	ADCY5	1.18
481	Scapuloperoneal spinal muscular atrophy	Enrichment	TRPV4	1.18
482	Fetal encasement syndrome	Enrichment	CHUK	1.18
483	Deafness, autosomal recessive 44	Enrichment	ADCY1	1.18
484	Avascular necrosis of femoral head, primary, 2	Enrichment	TRPV4	1.18
485	Sturge-weber syndrome	Enrichment	GNAQ	1.18
486	Craniometaphyseal dysplasia, autosomal recessive	Enrichment	GJA1	1.18
487	Acth-independent macronodular adrenal hyperplasia 1	Enrichment	GNAS	1.18
488	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.18
489	Immunodeficiency 15b	Enrichment	IKBKB	1.18
490	Neurodevelopmental disorder with hypotonia and dysmorphic facies	Enrichment	GNB2	1.18
491	Neurodevelopmental disorder with hyperkinetic movements and dyskinesia	Enrichment	ADCY5	1.18
492	Immunodeficiency 15a	Enrichment	IKBKB	1.18
493	Pituitary adenoma 3, multiple types	Enrichment	GNAS	1.18
494	Pulmonary hypertension, primary, 6	Enrichment	CAPNS1	1.18
495	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	1.18
496	Winchester syndrome	Enrichment	MMP14	1.18
497	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.18
498	Myxoma, intracardiac	Enrichment	PRKAR1A	1.18
499	Oculodentodigital dysplasia, autosomal recessive	Enrichment	GJA1	1.18
500	Uveal coloboma-cleft lip and palate-intellectual disability	Enrichment	YAP1	1.18
501	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.18
502	Dyskinesia with orofacial involvement, autosomal recessive	Enrichment	ADCY5	1.18
503	Cardiomyopathy, dilated, 1w	Enrichment	VCL	1.18
504	Lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia	Enrichment	GNB5	1.18
505	Epilepsy, childhood absence 6	Enrichment	CACNA1H	1.18
506	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.18
507	Skeletal dysplasia and progressive central nervous system degeneration, lethal	Enrichment	TRPV4	1.18
508	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.18
509	Digital arthropathy-brachydactyly, familial	Enrichment	TRPV4	1.18
510	Cardiomyopathy, familial hypertrophic, 15	Enrichment	VCL	1.18
511	Immunodeficiency 31a	Enrichment	STAT1	1.18
512	Long qt syndrome 16	Enrichment	CALM3	1.18
513	Hypocalcemia, autosomal dominant 2	Enrichment	GNA11	1.18
514	Acrodysostosis 2 with or without hormone resistance	Enrichment	PDE4D	1.18
515	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.18
516	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.18
517	Charcot-marie-tooth disease, dominant intermediate f	Enrichment	GNB4	1.18
518	Immunodeficiency 31b	Enrichment	STAT1	1.18
519	Developmental and epileptic encephalopathy 110	Enrichment	CACNA2D1	1.18
520	Disorders of gnas inactivation	Enrichment	GNAS	1.18
521	Blood group, er	Enrichment	PIEZO1	1.18
522	Congenital heart defects, multiple types, 7	Enrichment	FLT4	1.18
523	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.18
524	Erythrokeratodermia variabilis et progressiva 3	Enrichment	GJA1	1.18
525	Intellectual developmental disorder, autosomal dominant 42	Enrichment	GNB1	1.18
526	Hyperaldosteronism, familial, type iv	Enrichment	CACNA1H	1.18
527	Bartsocas-papas syndrome 2	Enrichment	CHUK	1.18
528	Sick sinus syndrome 4	Enrichment	GNB2	1.18
529	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.18
530	Tufted angioma of skin	Enrichment	KDR	1.18
531	Adenoid ameloblastoma	Enrichment	CTNNB1	1.18
532	Long qt syndrome 15	Enrichment	CALM2	1.18
533	Hypospadias	Enrichment	PIK3CA	1.18
534	Prkar1b-related neurodegenerative dementia with intermediate filaments	Enrichment	PRKAR1B	1.18
535	Conn's syndrome	Enrichment	CACNA1H	1.18
536	Rare venous malformation	Enrichment	PIK3CA	1.18
537	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.18
538	Diaphragmatic eventration	Enrichment	PIK3CA	1.18
539	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.18
540	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	1.18
541	Rare combined vascular malformation	Enrichment	PIK3CA	1.18
542	Cavernous lymphangioma	Enrichment	PIK3CA	1.18
543	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.18
544	Monostotic fibrous dysplasia	Enrichment	GNAS	1.18
545	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.18
546	Phakomatosis cesiomarmorata	Enrichment	GNA11	1.18
547	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.18
548	Mazabraud syndrome	Enrichment	GNAS	1.18
549	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.18
550	Macrodactyly of toe	Enrichment	PIK3CA	1.18
551	Microcystic stromal tumor	Enrichment	CTNNB1	1.18
552	Diffuse lymphatic malformation	Enrichment	PIEZO1	1.18
553	Trpv4-related bone disorder	Enrichment	TRPV4	1.18
554	Severe congenital neutropenia	Enrichment	SRPRA, TCIRG1	1.12
555	Congenital muscular dystrophy	Enrichment	FKBP14, LMNA	1.12
556	Myocarditis	Enrichment	BAG3, LMNA	1.12
557	Isolated split hand-split foot malformation	Enrichment	BTRC, SEM1	1.12
558	Hydrops fetalis, nonimmune	Enrichment	FLT4, HBA1, HBA2, PIEZO1	1.04
559	Behavioral variant of frontotemporal dementia	Enrichment	SQSTM1, VCP	1.03
560	Hypoplastic left heart syndrome	Enrichment	GJA1, NOTCH1	1.02
561	Arteriovenous malformations of the brain	Enrichment	IL6, MAP4K4, NLRP3	1.02
562	Dyskeratosis congenita	Enrichment	PARN, POT1, TINF2	1.02
563	Amyotrophic lateral sclerosis 1	Enrichment	DCTN1, SOD1	0.95
564	Lynch syndrome 1	Enrichment	ATM, PALB2	0.95
565	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	SQSTM1, VCP	0.95
566	Aplastic anemia	Enrichment	NBN, RPL5	0.95
567	Myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency	Enrichment	GFPT1, MINK1	0.95
568	Galloway-mowat syndrome	Enrichment	NUP107, NUP133	0.95
569	Peripheral nervous system disease	Enrichment	BAG3, COX6A1, DYNC1H1, LMNA	0.95
570	Neuropathy	Enrichment	BAG3, COX6A1, DYNC1H1, LMNA	0.95
571	Birt-hogg-dube syndrome 1	Enrichment	FLCN	0.95
572	Melanoma-astrocytoma syndrome	Enrichment	CDKN2A	0.95
573	Burkitt lymphoma	Enrichment	MYC	0.95
574	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	0.95
575	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	0.95
576	Cardiomyopathy, familial restrictive, 1	Enrichment	CRYAB	0.95
577	Chromosome 5q deletion syndrome	Enrichment	RPS14	0.95
578	Scoliosis, isolated 1	Enrichment	MAPK7	0.95
579	Adrenocortical carcinoma, hereditary	Enrichment	TP53	0.95
580	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	0.95
581	Epiphyseal dysplasia, multiple, with early-onset diabetes mellitus	Enrichment	EIF2AK3	0.95
582	Galactosemia ii	Enrichment	NR3C1	0.95
583	Mandibuloacral dysplasia with type a lipodystrophy	Enrichment	LMNA	0.95
584	Thumb deformity	Enrichment	CREBBP	0.95
585	Renal tubular acidosis, distal, 2, with progressive sensorineural hearing loss	Enrichment	ATP6V1B1	0.95
586	Ceroid lipofuscinosis, neuronal, 2	Enrichment	TPP1	0.95
587	Camptodactyly-arthropathy-coxa vara-pericarditis syndrome	Enrichment	TPR	0.95
588	Spinal and bulbar muscular atrophy, x-linked 1	Enrichment	AR	0.95
589	Striatonigral degeneration, infantile	Enrichment	NUP62	0.95
590	Immunodeficiency 59 and hypoglycemia	Enrichment	HYOU1	0.95
591	Pulmonary venoocclusive disease 1, autosomal dominant	Enrichment	EIF2AK4	0.95
592	Revesz syndrome	Enrichment	TINF2	0.95
593	Cervical cancer	Enrichment	TP53	0.95
594	Leukodystrophy, hypomyelinating, 4	Enrichment	HSPD1	0.95
595	Histiocytoma, angiomatoid fibrous	Enrichment	CREB1	0.95
596	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	0.95
597	Diamond-blackfan anemia 6	Enrichment	RPL5	0.95
598	Diamond-blackfan anemia 9	Enrichment	RPS10	0.95
599	Welander distal myopathy	Enrichment	SQSTM1	0.95
600	Heart-hand syndrome, slovenian type	Enrichment	LMNA	0.95
601	Salivary gland adenoma, pleomorphic	Enrichment	HMGA2	0.95
602	Charcot-marie-tooth disease, axonal, type 2b1	Enrichment	LMNA	0.95
603	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	0.95
604	Diamond-blackfan anemia 5	Enrichment	RPL35A	0.95
605	Melanoma, cutaneous malignant 2	Enrichment	CDKN2A	0.95
606	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	KEAP1	0.95
607	Adams-oliver syndrome 5	Enrichment	NOTCH1	0.95
608	Cardiomyopathy, dilated, with hypergonadotropic hypogonadism	Enrichment	LMNA	0.95
609	Yuan-harel-lupski syndrome	Enrichment	RAI1	0.95
610	Pulmonary venoocclusive disease 2, autosomal recessive	Enrichment	EIF2AK4	0.95
611	Chromosome 13q14 deletion syndrome	Enrichment	RB1	0.95
612	Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus	Enrichment	DNAJC3	0.95
613	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	0.95
614	Lymphoma, hodgkin, classic	Enrichment	TP53	0.95
615	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	0.95
616	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Enrichment	DYNC1I2	0.95
617	Myasthenic syndrome, congenital, 12	Enrichment	GFPT1	0.95
618	Epilepsy, familial focal, with variable foci 3	Enrichment	NPRL3	0.95
619	Multiple endocrine neoplasia, type iv	Enrichment	CDKN1B	0.95
620	Albinism, oculocutaneous, type ia	Enrichment	NOX4	0.95
621	Hypothyroidism, congenital, nongoitrous, 6	Enrichment	NR1D1	0.95
622	Diamond-blackfan anemia 12	Enrichment	RPL15	0.95
623	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	0.95
624	Ceroid lipofuscinosis, neuronal, 3	Enrichment	TPP1	0.95
625	Cardiomyopathy, dilated, 1d	Enrichment	LMNA	0.95
626	Hypobetalipoproteinemia, familial, 1	Enrichment	APOB	0.95
627	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Enrichment	SQSTM1	0.95
628	Restrictive dermopathy 2	Enrichment	LMNA	0.95
629	Neurodevelopmental disorder with dysmorphic facies, sleep disturbance, and brain abnormalities	Enrichment	KAT5	0.95
630	Diamond-blackfan anemia-like	Enrichment	EPO	0.95
631	Methemoglobinemia, alpha type	Enrichment	HBA1	0.95
632	Hypomagnesemia 7, renal, with or without dilated cardiomyopathy	Enrichment	RRAGD	0.95
633	Emery-dreifuss muscular dystrophy 3, autosomal recessive	Enrichment	LMNA	0.95
634	Developmental and epileptic encephalopathy 93	Enrichment	ATP6V1A	0.95
635	Fanconi anemia, complementation group s	Enrichment	BRCA1	0.95
636	Birk-aharoni syndrome	Enrichment	PSMC1	0.95
637	Intellectual developmental disorder, autosomal recessive 83	Enrichment	KICS2	0.95
638	Cardiac valvular dysplasia, x-linked	Enrichment	ATM	0.95
639	46,xy sex reversal 1	Enrichment	AR	0.95
640	Neurodevelopmental disorder with language delay and behavioral abnormalities, with or without seizures	Enrichment	AGO1	0.95
641	Androgen insensitivity syndrome	Enrichment	AR	0.95
642	Poirier-bienvenu neurodevelopmental syndrome	Enrichment	CSNK2B	0.95
643	Nephrotic syndrome, type 17	Enrichment	NUP85	0.95
644	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA	0.95
645	Osteopetrosis, autosomal recessive 1	Enrichment	TCIRG1	0.95
646	Cebalid syndrome	Enrichment	MTOR	0.95
647	Keratoconus 9	Enrichment	TUBA3D	0.95
648	Menke-hennekam syndrome 2	Enrichment	EP300	0.95
649	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4	0.95
650	Dyskeratosis congenita, autosomal dominant 3	Enrichment	TINF2	0.95
651	Pulmonary venoocclusive disease 1	Enrichment	EIF2AK4	0.95
652	Pulmonary venoocclusive disease 2	Enrichment	EIF2AK4	0.95
653	Intravascular large b-cell lymphoma	Enrichment	BCL2	0.95
654	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	0.95
655	Leukodystrophy, hypomyelinating, 17	Enrichment	EIF2AK1	0.95
656	Pancreatic cancer 4	Enrichment	BRCA1	0.95
657	Ehlers-danlos syndrome, kyphoscoliotic type, 2	Enrichment	FKBP14	0.95
658	Hypospadias 1, x-linked	Enrichment	AR	0.95
659	Rela fusion-positive ependymoma	Enrichment	RELA	0.95
660	Kala-azar 2	Enrichment	GSTP1	0.95
661	Lissencephaly 3	Enrichment	TUBA1A	0.95
662	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	0.95
663	Acute myeloid leukemia with kat6a-crebbp fusion	Enrichment	CREBBP	0.95
664	Senior-loken syndrome 7	Enrichment	AKT3	0.95
665	Kleefstra syndrome	Enrichment	EHMT1	0.95
666	Melanoma-pancreatic cancer syndrome	Enrichment	CDKN2A	0.95
667	Transaldolase deficiency	Enrichment	TALDO1	0.95
668	Lipodystrophy, familial partial, type 1	Enrichment	LMNA	0.95
669	Developmental and epileptic encephalopathy 18	Enrichment	SZT2	0.95
670	Oligodendroglioma	Enrichment	POT1	0.95
671	Renal tubular acidosis	Enrichment	ATP6V1B1	0.95
672	Congenital fibrosarcoma	Enrichment	TP53	0.95
673	High grade glioma	Enrichment	ATM	0.95
674	Li-fraumeni syndrome 1	Enrichment	TP53	0.95
675	Sarcoma	Enrichment	TP53	0.95
676	Wolfram syndrome	Enrichment	WFS1	0.95
677	Pericardial effusion	Enrichment	NLRP3	0.95
678	Congenital hemolytic anemia	Enrichment	G6PD	0.95
679	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	0.95
680	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	0.95
681	Ventricular septal defect 2	Enrichment	CITED2	0.95
682	Spastic tetraplegia and axial hypotonia, progressive	Enrichment	SOD1	0.95
683	Hemoglobin lepore-beta-thalassemia syndrome	Enrichment	HBB	0.95
684	Intellectual developmental disorder, autosomal recessive 41	Enrichment	KPTN	0.95
685	Hypobetalipoproteinemia	Enrichment	APOB	0.95
686	Cervix carcinoma	Enrichment	TP53	0.95
687	Hodgkin's lymphoma	Enrichment	TP53	0.95
688	Autosomal dominant primary microcephaly	Enrichment	LMNB1	0.95
689	Bardet-biedl syndrome 16	Enrichment	AKT3	0.95
690	T-cell prolymphocytic leukemia	Enrichment	ATM	0.95
691	Paget's disease of bone	Enrichment	SQSTM1	0.95
692	Cataract 16, multiple types	Enrichment	CRYAB	0.95
693	Smith-kingsmore syndrome	Enrichment	MTOR	0.95
694	Diamond-blackfan anemia 16	Enrichment	RPL27	0.95
695	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia	Enrichment	RORA	0.95
696	Inflammatory breast carcinoma	Enrichment	BRCA1	0.95
697	17q24.2 microdeletion syndrome	Enrichment	PSMD12	0.95
698	Stolerman neurodevelopmental syndrome	Enrichment	KDM6B	0.95
699	Diamond-blackfan anemia 17	Enrichment	RPS27	0.95
700	Autosomal recessive sideroblastic anemia	Enrichment	HSPA9	0.95
701	Anaplastic oligodendroglioma	Enrichment	POT1	0.95
702	Hypoalphalipoproteinemia, primary, 2, intermediate	Enrichment	APOA1	0.95
703	Torsion dystonia 4	Enrichment	TUBB4A	0.95
704	Congenital pontocerebellar hypoplasia type 1	Enrichment	EXOSC3	0.95
705	Familial isolated congenital asplenia	Enrichment	RPSA	0.95
706	Peritoneum cancer	Enrichment	BRCA1	0.95
707	Spondyloepiphyseal dysplasia, kondo-fu type	Enrichment	MBTPS1	0.95
708	Childhood-onset epilepsy syndrome	Enrichment	ATP6V0C	0.95
709	Amyloidosis, hereditary systemic 3	Enrichment	APOA1	0.95
710	Distal hereditary motor neuropathy type 7	Enrichment	DCTN1	0.95
711	Bilateral breast cancer	Enrichment	BRCA1	0.95
712	Long-olsen-distelmaier syndrome	Enrichment	RRAGC	0.95
713	Familial partial lipodystrophy	Enrichment	LMNA	0.95
714	12q14 microdeletion syndrome	Enrichment	HMGA2	0.95
715	Acute myeloid leukemia with t(6;9) (p23;q34.1)	Enrichment	NUP214	0.95
716	Transient infantile hypertriglyceridemia and hepatosteatosis	Enrichment	CREB3L3	0.95
717	Posterior hypospadias	Enrichment	AR	0.95
718	Acute leukemia of ambiguous lineage	Enrichment	VHL	0.95
719	Kleefstra syndrome due to a point mutation	Enrichment	EHMT1	0.95
720	Pulmonary venoocclusive disease	Enrichment	EIF2AK4	0.95
721	Primary mediastinal large b-cell lymphoma	Enrichment	XPO1	0.95
722	Familial retinoblastoma	Enrichment	RB1	0.95
723	Sickle cell s-lepore disease	Enrichment	HBB	0.95
724	Common variable immunodeficiency 12	Enrichment	NFKB1	0.95
725	Charcot-marie-tooth disease type 2b1	Enrichment	LMNA	0.95
726	Acute necrotizing encephalopathy of childhood	Enrichment	RANBP2	0.95
727	Pseudohypoaldosteronism	Enrichment	NR3C2	0.95
728	Pleomorphic rhabdomyosarcoma	Enrichment	TP53	0.95
729	Continuous spikes and waves during sleep	Enrichment	TUBA1A	0.95
730	Submucosal cleft palate	Enrichment	UBB	0.95
731	Cleft hard palate	Enrichment	UBB	0.95
732	Neuroendocrine tumor of pancreas	Enrichment	PALB2	0.95
733	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	0.93
734	Cowden syndrome	Enrichment	AKT1, PIK3CA	0.93
735	Microcephaly	Enrichment	ABL1, CAMK2B, CTNNB1, DYNC1H1, EP300, EXOSC3, GNB1, MAPK1, NBN, NUP188, PSMC3, TUBB4A	0.93
736	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	DCTN1, MEF2C, PPARGC1A, SOD1, SQSTM1, VCP	0.92
737	Complex neurodevelopmental disorder	Enrichment	AGO1, CSNK2A1, CUL3, GNB2, H4C3, H4C5, H4C9, PPP2CA, PSMD12, RNF2, RORA, TNRC6B	0.91
738	Lymphatic malformation 1	Enrichment	FLT4	0.89
739	Pseudohypoparathyroidism, type ia	Enrichment	GNAS	0.89
740	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	FN1	0.89
741	Amelogenesis imperfecta, type ig	Enrichment	PRKAR1A	0.89
742	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	FN1	0.89
743	Cutis marmorata telangiectatica congenita	Enrichment	GNA11	0.89
744	Intracranial hypertension, idiopathic	Enrichment	FLT4	0.89
745	Immunodeficiency 33	Enrichment	IKBKG	0.89
746	Pseudopseudohypoparathyroidism	Enrichment	GNAS	0.89
747	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	0.89
748	Hereditary motor and sensory neuropathy, type iic	Enrichment	TRPV4	0.89
749	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	0.89
750	Keratosis, seborrheic	Enrichment	PIK3CA	0.89
751	Roifman-chitayat syndrome	Enrichment	PIK3CD	0.89
752	Lethal congenital contracture syndrome 8	Enrichment	ADCY6	0.89
753	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	0.89
754	Chromosome 5q12 deletion syndrome	Enrichment	PDE4D	0.89
755	Angioma, tufted	Enrichment	KDR	0.89
756	Night blindness, congenital stationary, type 1h	Enrichment	GNB3	0.89
757	Noonan syndrome 8	Enrichment	PIK3CA	0.89
758	Schwartz-jampel syndrome, type 1	Enrichment	HSPG2	0.89
759	Syndactyly, type iii	Enrichment	GJA1	0.89
760	Syndactyly, type v	Enrichment	GJA1	0.89
761	Long qt syndrome 14	Enrichment	CALM1	0.89
762	Immunodeficiency 31c	Enrichment	STAT1	0.89
763	Oocyte/zygote/embryo maturation arrest 7	Enrichment	PANX1	0.89
764	Marbach-schaaf neurodevelopmental syndrome	Enrichment	PRKAR1B	0.89
765	Congenital heart defects and skeletal malformations syndrome	Enrichment	ABL1	0.89
766	Usher syndrome, type iv	Enrichment	PRKAR1A	0.89
767	Childhood hepatocellular carcinoma	Enrichment	CTNNB1	0.89
768	Craniometaphyseal dysplasia	Enrichment	GJA1	0.89
769	Lymphatic malformation 6	Enrichment	PIEZO1	0.89
770	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	0.89
771	Autosomal dominant hypocalcemia	Enrichment	GNA11	0.89
772	Pseudohypoparathyroidism	Enrichment	GNAS	0.89
773	Body mass index quantitative trait locus 19	Enrichment	ADCY3	0.89
774	Lymphatic malformation 8	Enrichment	CALCRL	0.89
775	Familial avascular necrosis of the femoral head	Enrichment	TRPV4	0.89
776	Immune system disease	Enrichment	PIK3CD	0.89
777	Ciliary dyskinesia, primary, 18	Enrichment	PRKAR1B	0.89
778	Lodder-merla syndrome, type 1, with impaired intellectual development and cardiac arrhythmia	Enrichment	GNB5	0.89
779	Hereditary lymphedema i	Enrichment	FLT4	0.89
780	Houge-janssens syndrome 3	Enrichment	PPP2CA	0.89
781	Juvenile nasopharyngeal angiofibroma	Enrichment	CTNNB1	0.89
782	Isolated primary pigmented nodular adrenocortical disease	Enrichment	PRKAR1A	0.89
783	Acth-independent macronodular adrenal hyperplasia	Enrichment	GNAS	0.89
784	Teratoma	Enrichment	CTNNB1	0.89
785	Cerebral visual impairment	Enrichment	GNB1	0.89
786	46,xy complete gonadal dysgenesis	Enrichment	AR, CBX2	0.88
787	Familial colorectal cancer type x	Enrichment	ATM, RPS20	0.88
788	Specific learning disability	Enrichment	MAPK1, RPS6KA3	0.88
789	Type 2 diabetes mellitus	Enrichment	AKT2, HMGA1, IL6, PTPN1, WFS1	0.84
790	Digeorge syndrome	Enrichment	HIRA, UFD1	0.82
791	Endometrial cancer	Enrichment	ATM, BRCA1, PIK3CA	0.80
792	Myelodysplastic syndrome	Enrichment	GNB1, TP53	0.79
793	Crouzon syndrome	Enrichment	ERF	0.78
794	Craniosynostosis 1	Enrichment	ERF	0.78
795	Jacobsen syndrome	Enrichment	ETS1	0.78
796	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	0.78
797	Zimmermann-laband syndrome 1	Enrichment	ATP6V1B2	0.78
798	Prognathism, mandibular	Enrichment	CSNK2B	0.78
799	Hypercholesterolemia, familial, 2	Enrichment	APOB	0.78
800	Retinoblastoma	Enrichment	RB1	0.78
801	Pseudohypoaldosteronism, type iia	Enrichment	CUL3	0.78
802	Keratoderma, palmoplantar, with deafness	Enrichment	MT-CO1	0.78
803	Ataxia-telangiectasia	Enrichment	ATM	0.78
804	Choreoacanthocytosis	Enrichment	TCIRG1	0.78
805	Thrombocythemia 1	Enrichment	CALR	0.78
806	Neutropenia, severe congenital, 1, autosomal dominant	Enrichment	TCIRG1	0.78
807	Nijmegen breakage syndrome	Enrichment	NBN	0.78
808	Dysosteosclerosis	Enrichment	TCIRG1	0.78
809	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	0.78
810	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4	0.78
811	Polycythemia vera	Enrichment	ATM	0.78
812	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	VHL	0.78
813	Uvula, bifid	Enrichment	UBB	0.78
814	Three m syndrome 1	Enrichment	CUL7	0.78
815	Ifap syndrome 1, with or without bresheck syndrome	Enrichment	MBTPS2	0.78
816	Pierpont syndrome	Enrichment	TBL1XR1	0.78
817	Linear skin defects with multiple congenital anomalies 1	Enrichment	COX7B	0.78
818	Heart defects, congenital, and other congenital anomalies	Enrichment	ACADVL	0.78
819	Restrictive dermopathy 1	Enrichment	LMNA	0.78
820	Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss	Enrichment	ATP6V1B1	0.78
821	Cleft soft palate	Enrichment	UBB	0.78
822	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	0.78
823	Estrogen resistance	Enrichment	ESR1	0.78
824	Lipodystrophy, familial partial, type 2	Enrichment	LMNA	0.78
825	Folate malabsorption, hereditary	Enrichment	SLC46A1	0.78
826	Woolly hair, autosomal recessive 3	Enrichment	RB1	0.78
827	Dyskeratosis congenita, autosomal dominant 6	Enrichment	ACD	0.78
828	Epilepsy, familial focal, with variable foci 2	Enrichment	NPRL2	0.78
829	Ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	0.78
830	Miller-dieker lissencephaly syndrome	Enrichment	YWHAE	0.78
831	Muscular dystrophy, congenital, lmna-related	Enrichment	LMNA	0.78
832	Chromosome 17p13.3, centromeric, duplication syndrome	Enrichment	YWHAE	0.78
833	Epilepsy, progressive myoclonic, 6	Enrichment	GOSR2	0.78
834	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	0.78
835	Pontocerebellar hypoplasia, type 1b	Enrichment	EXOSC3	0.78
836	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	0.78
837	Hypoalphalipoproteinemia, primary, 2	Enrichment	APOA1	0.78
838	Hypotrichosis 8	Enrichment	RB1	0.78
839	Muscular dystrophy, congenital, with or without seizures	Enrichment	GOSR2	0.78
840	Keratosis follicularis spinulosa decalvans	Enrichment	MBTPS2	0.78
841	Primary polycythemia	Enrichment	VHL	0.78
842	Tethered spinal cord syndrome	Enrichment	CREBBP	0.78
843	Distal myopathy	Enrichment	HSPB8	0.78
844	Bacteremia 2	Enrichment	MAPKAPK3	0.78
845	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	0.78
846	Intellectual developmental disorder, autosomal dominant 62	Enrichment	ACADVL	0.78
847	Breast implant-associated anaplastic large cell lymphoma	Enrichment	STAT3	0.78
848	Koolen-de vries syndrome	Enrichment	ATM	0.78
849	Hyper ige syndrome	Enrichment	STAT3	0.78
850	Osteopetrosis, autosomal recessive 6	Enrichment	TCIRG1	0.78
851	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4	0.78
852	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	Enrichment	MBTPS2	0.78
853	Cerebellar disease	Enrichment	EXOSC3	0.78
854	Asparagine synthetase deficiency	Enrichment	ASNS	0.78
855	Atypical teratoid rhabdoid tumor	Enrichment	TP53	0.78
856	Anaplastic astrocytoma	Enrichment	TP53	0.78
857	Chromophobe renal cell carcinoma	Enrichment	FLCN	0.78
858	Myxoid liposarcoma	Enrichment	DDIT3	0.78
859	Hemoglobin e disease	Enrichment	HBB	0.78
860	Macrocytic anemia	Enrichment	RPL17	0.78
861	Intraocular pressure quantitative trait locus	Enrichment	CREBBP	0.78
862	Migraine without aura	Enrichment	ESR1	0.78
863	Intellectual developmental disorder, autosomal dominant 41	Enrichment	TBL1XR1	0.78
864	3-methylglutaconic aciduria	Enrichment	YME1L1	0.78
865	Spastic paraplegia 50, autosomal recessive	Enrichment	APOA1	0.78
866	Dlg4-related synaptopathy	Enrichment	ACADVL	0.78
867	Restrictive dermopathy	Enrichment	LMNA	0.78
868	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Enrichment	ASNS	0.78
869	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	0.78
870	Cole-carpenter syndrome	Enrichment	P4HB	0.78
871	Sickle cell-hemoglobin c disease	Enrichment	HBB	0.78
872	Spinocerebellar ataxia, autosomal recessive 29	Enrichment	ASNS	0.78
873	Melanoma of soft tissue	Enrichment	CREB1	0.78
874	Hemoglobin d disease	Enrichment	HBB	0.78
875	Myelodysplastic syndrome with ring sideroblasts	Enrichment	MT-CO1	0.78
876	Delta beta-thalassemia	Enrichment	HBB	0.78
877	Thyroid hemiagenesis	Enrichment	PSMD3	0.78
878	Unstable hemoglobin disease	Enrichment	HBB	0.78
879	Hemoglobin e/beta thalassemia disease	Enrichment	HBB	0.78
880	Epilepsy with auditory features	Enrichment	DEPDC5	0.78
881	Congenital nervous system abnormality	Enrichment	AAAS, CAMK2B, CREBBP, CTNNB1, DYNC1H1, EXOSC3, GNB5, TPP1, TUBA1A, TUBB4A	0.78
882	Nervous system disease	Enrichment	AAAS, CAMK2B, CREBBP, CTNNB1, DYNC1H1, EXOSC3, GNB5, TPP1, TUBA1A, TUBB4A	0.78
883	Pulmonary hypertension, primary, 1	Enrichment	EIF2AK4, RPL5	0.76
884	Autism spectrum disorder	Enrichment	CSNK2A1, CSNK2B, CUL3, DYNC1H1, EED, EHMT1, MEF2C, NR3C2, TNRC6B	0.73
885	Desmoid disease, hereditary	Enrichment	CTNNB1	0.73
886	Mccune-albright syndrome	Enrichment	GNAS	0.73
887	Bleeding disorder, platelet-type, 16	Enrichment	ITGB3	0.73
888	Dyssegmental dysplasia, silverman-handmaker type	Enrichment	HSPG2	0.73
889	Pompe disease, infantile-onset	Enrichment	PIK3CA	0.73
890	Glomerulopathy with fibronectin deposits 2	Enrichment	FN1	0.73
891	Multicentric osteolysis, nodulosis, and arthropathy	Enrichment	MMP14	0.73
892	Neurodevelopmental disorder with spastic diplegia and visual defects	Enrichment	CTNNB1	0.73
893	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD	0.73
894	Exudative vitreoretinopathy 7	Enrichment	CTNNB1	0.73
895	Desmoid tumor	Enrichment	CTNNB1	0.73
896	Immunodeficiency 14	Enrichment	PIK3CD	0.73
897	T-cell acute lymphoblastic leukemia	Enrichment	ABL1	0.73
898	Cushing syndrome due to bilateral macronodular adrenocortical disease	Enrichment	GNAS	0.73
899	Bleeding disorder, platelet-type, 24	Enrichment	ITGB3	0.73
900	Hypomyelination neuropathy-arthrogryposis syndrome	Enrichment	ADCY6	0.73
901	Meningioma	Enrichment	AKT1, PIK3CA	0.73
902	Mitochondrial complex v deficiency, mitochondrial type 1	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.72
903	Neuropathy, ataxia, and retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.72
904	Striatonigral degeneration, infantile, mitochondrial	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.72
905	Camptodactyly of fingers	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.72
906	Lung cancer susceptibility 3	Enrichment	RB1, TP53	0.71
907	Seckel syndrome	Enrichment	ATR, NUP85	0.71
908	Congenital myasthenic syndrome	Enrichment	GFPT1, MINK1	0.71
909	Nk-cell enteropathy	Enrichment	CUL3, PIK3CB	0.67
910	Kaposi sarcoma	Enrichment	IL6	0.67
911	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	ALB	0.67
912	Hypertriglyceridemia 1	Enrichment	CREB3L3	0.67
913	Hutchinson-gilford progeria syndrome	Enrichment	LMNA	0.67
914	Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia	Enrichment	MRE11	0.67
915	Acyl-coa dehydrogenase, very long-chain, deficiency of	Enrichment	ACADVL	0.67
916	Ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive	Enrichment	RANBP2	0.67
917	Chordoma	Enrichment	PALB2	0.67
918	Emery-dreifuss muscular dystrophy 1, x-linked	Enrichment	LMNA	0.67
919	Pyruvate dehydrogenase e1-alpha deficiency	Enrichment	LONP1	0.67
920	Erythrocytosis, familial, 2	Enrichment	VHL	0.67
921	Thyroid cancer, nonmedullary, 1	Enrichment	TP53	0.67
922	Achalasia-addisonianism-alacrima syndrome	Enrichment	AAAS	0.67
923	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	0.67
924	Budd-chiari syndrome	Enrichment	CALR	0.67
925	Microtia-anotia	Enrichment	LMNA	0.67
926	Paget disease of bone 2, early-onset	Enrichment	SQSTM1	0.67
927	Hypoalphalipoproteinemia, primary, 1	Enrichment	APOA1	0.67
928	Chromosome 22q11.2 deletion syndrome, distal	Enrichment	MAPK1	0.67
929	Sickle cell disease	Enrichment	HBB	0.67
930	Beta-thalassemia, dominant inclusion body type	Enrichment	HBB	0.67
931	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	HSPB8	0.67
932	Cholangiocarcinoma	Enrichment	BRCA1	0.67
933	Au-kline syndrome	Enrichment	VHL	0.67
934	Lynch syndrome 4	Enrichment	RB1	0.67
935	Congenital generalized lipodystrophy	Enrichment	FOS	0.67
936	Mantle cell lymphoma	Enrichment	ATM	0.67
937	Erythrocytosis, familial, 6	Enrichment	HBB	0.67
938	Arthrogryposis multiplex congenita 3, myogenic type	Enrichment	ESR1	0.67
939	Beta-thalassemia intermedia	Enrichment	HBB	0.67
940	Enophthalmos	Enrichment	CSNK2B	0.67
941	Syndactyly	Enrichment	CSNK2B	0.67
942	Emery-dreifuss muscular dystrophy	Enrichment	LMNA	0.67
943	Autosomal dominant nocturnal frontal lobe epilepsy	Enrichment	DEPDC5	0.67
944	Lung sarcomatoid carcinoma	Enrichment	TP53	0.67
945	Ectodermal dysplasia	Enrichment	RANBP2	0.67
946	Hemoglobinopathy	Enrichment	HBB	0.67
947	Embryonal rhabdomyosarcoma	Enrichment	TP53	0.67
948	Tuberculosis	Enrichment	MAPKAPK3	0.67
949	Pilocytic astrocytoma	Enrichment	FLCN	0.67
950	Newborn respiratory distress syndrome	Enrichment	NPRL2	0.67
951	3-methylglutaconic aciduria, type viii	Enrichment	HTRA2	0.67
952	Hemoglobin c disease	Enrichment	HBB	0.67
953	Autosomal recessive osteopetrosis	Enrichment	TCIRG1	0.67
954	Paget's disease of bone 2	Enrichment	SQSTM1	0.67
955	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	Enrichment	HBB	0.67
956	Sick sinus syndrome	Enrichment	LMNA	0.67
957	Silver-russell syndrome due to a point mutation	Enrichment	HMGA2	0.67
958	Primary hyperparathyroidism	Enrichment	CDKN1B	0.67
959	Systemic-onset juvenile idiopathic arthritis	Enrichment	IL6	0.67
960	Methemoglobinemia, beta-globin type	Enrichment	HBB	0.67
961	Autosomal recessive isolated optic atrophy	Enrichment	YME1L1	0.67
962	Oculomotor apraxia	Enrichment	ATM	0.67
963	Polydactyly, postaxial, type a1	Enrichment	ATP6V1B1, EP300	0.66
964	Corpus callosum, agenesis of	Enrichment	CREBBP, TUBA1A	0.66
965	Osteogenesis imperfecta, type iii	Enrichment	CREB3L1, MBTPS2	0.66
966	Isolated corpus callosum agenesis	Enrichment	CREBBP, TUBA1A	0.66
967	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	CREBBP, TUBA1A	0.66
968	Autosomal dominant non-syndromic intellectual disability	Enrichment	CAMK2A, CAMK2B, CSNK2B, DYNC1H1, GNB1	0.62
969	Heart disease	Enrichment	ABL1, CREBBP	0.62
970	Rhabdomyosarcoma	Enrichment	BRCA1, TP53	0.62
971	Isolated congenital microcephaly	Enrichment	PHC1, TUBA3E	0.62
972	Chorea, benign hereditary	Enrichment	ADCY5	0.62
973	Dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema	Enrichment	PIEZO1	0.62
974	Spastic paraplegia 17, autosomal dominant	Enrichment	GNG3	0.62
975	Pseudohypoparathyroidism, type ib	Enrichment	GNAS	0.62
976	Lipodystrophy, congenital generalized, type 2	Enrichment	GNG3	0.62
977	Pilomatrixoma	Enrichment	CTNNB1	0.62
978	Carney complex variant	Enrichment	PRKAR1A	0.62
979	Arrhythmogenic right ventricular dysplasia, familial, 10	Enrichment	PRKAR1A	0.62
980	Alazami syndrome	Enrichment	CTNNB1	0.62
981	Malignant epithelioid hemangioendothelioma	Enrichment	YAP1	0.62
982	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	ABL1	0.62
983	Cerebrovascular disease	Enrichment	PIK3CA	0.62
984	Craniopharyngioma	Enrichment	CTNNB1	0.62
985	Familial cerebral cavernous malformations	Enrichment	PIK3CA	0.62
986	Pediatric systemic lupus erythematosus	Enrichment	SPP1	0.62
987	Familial sick sinus syndrome	Enrichment	GNB2	0.62
988	Brugada syndrome	Enrichment	CACNA2D1, CACNB2, LMNA	0.61
989	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	RANBP2	0.59
990	Hyperlipidemia, familial combined, 3	Enrichment	APOB	0.59
991	Neuronopathy, distal hereditary motor, autosomal dominant 2	Enrichment	HSPB8	0.59
992	Amyloidosis, hereditary systemic 2	Enrichment	APOA1	0.59
993	Paroxysmal extreme pain disorder	Enrichment	IDH1	0.59
994	Smith-magenis syndrome	Enrichment	RAI1	0.59
995	Fanconi anemia, complementation group d2	Enrichment	VHL	0.59
996	Von hippel-lindau syndrome	Enrichment	VHL	0.59
997	Rhabdomyosarcoma 2	Enrichment	TP53	0.59
998	Rheumatoid arthritis, systemic juvenile	Enrichment	IL6	0.59
999	Major depressive disorder	Enrichment	FKBP5	0.59
1000	Myasthenic syndrome, congenital, 4a, slow-channel	Enrichment	MINK1	0.59
1001	Deafness, autosomal recessive 63	Enrichment	ANAPC15	0.59
1002	Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia	Enrichment	SOD1	0.59
1003	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	0.59
1004	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	0.59
1005	Rubinstein-taybi syndrome 2	Enrichment	EP300	0.59
1006	Follicular lymphoma	Enrichment	BCL2	0.59
1007	Autosomal recessive cerebellar ataxia	Enrichment	PRDX3	0.59
1008	Lymphoma	Enrichment	TP53	0.59
1009	Autosomal recessive limb-girdle muscular dystrophy type 2b	Enrichment	LMNA	0.59
1010	Myasthenic syndrome, congenital, 4b, fast-channel	Enrichment	MINK1	0.59
1011	Glioblastoma	Enrichment	ATM	0.59
1012	Osteopetrosis	Enrichment	TCIRG1	0.59
1013	Hemangioma	Enrichment	RPL5	0.59
1014	Spinal muscular atrophy	Enrichment	DYNC1H1	0.59
1015	Acute megakaryocytic leukemia	Enrichment	TP53	0.59
1016	Autosomal recessive hypohidrotic ectodermal dysplasia syndrome	Enrichment	RANBP2	0.59
1017	Autosomal dominant severe congenital neutropenia	Enrichment	TCIRG1	0.59
1018	Familial glucocorticoid deficiency	Enrichment	TXNRD2	0.59
1019	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	Enrichment	HBB	0.59
1020	Congenital myasthenic syndromes with glycosylation defect	Enrichment	GFPT1	0.59
1021	Hypertelorism	Enrichment	MT-CO1, MT-CO2, MT-CO3, PIK3CA, RPS6KA3	0.58
1022	Pontocerebellar hypoplasia	Enrichment	EXOSC3, EXOSC9	0.55
1023	Patent foramen ovale	Enrichment	CITED2, PSMC3	0.55
1024	Early-onset nuclear cataract	Enrichment	CRYAB, WFS1	0.55
1025	Cystic fibrosis	Enrichment	DCTN4, GCLC, HMOX1	0.54
1026	Primary autosomal recessive microcephaly	Enrichment	CDK6, NUP37, PHC1	0.54
1027	Charcot-marie-tooth disease	Enrichment	DCTN1, DYNC1H1, LMNA, TRPV4	0.54
1028	Alzheimer disease 2	Enrichment	NOS3	0.54
1029	Exudative vitreoretinopathy 1	Enrichment	CTNNB1	0.54
1030	Glanzmann thrombasthenia 2	Enrichment	ITGB3	0.54
1031	Pre-eclampsia	Enrichment	NOS3	0.54
1032	Cardiac arrest	Enrichment	CACNA2D1	0.54
1033	Cleft upper lip	Enrichment	GJA1	0.54
1034	Congenital short qt syndrome	Enrichment	CACNA2D1	0.54
1035	Angelman syndrome	Enrichment	TPP1	0.52
1036	Dyskeratosis congenita, autosomal dominant 1	Enrichment	TINF2	0.52
1037	Developmental dysplasia of the hip 1	Enrichment	PSMC3	0.52
1038	Emery-dreifuss muscular dystrophy 2, autosomal dominant	Enrichment	LMNA	0.52
1039	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	0.52
1040	Shwachman-diamond syndrome 1	Enrichment	SRPRA	0.52
1041	Type 1 diabetes mellitus	Enrichment	IL6	0.52
1042	Deafness, nonsyndromic sensorineural, mitochondrial	Enrichment	MT-CO1	0.52
1043	Kleefstra syndrome 1	Enrichment	EHMT1	0.52
1044	Inflammatory myofibroblastic tumor	Enrichment	RANBP2	0.52
1045	Pancytopenia	Enrichment	RPL17	0.52
1046	Patent ductus arteriosus	Enrichment	PSMC3	0.52
1047	Pulmonary fibrosis	Enrichment	PARN	0.52
1048	Clear cell renal cell carcinoma	Enrichment	ATM	0.52
1049	Early myoclonic encephalopathy	Enrichment	TUBA1A	0.52
1050	Hypertrichosis	Enrichment	CREBBP	0.52
1051	Autosomal recessive distal renal tubular acidosis	Enrichment	ATP6V1B1	0.52
1052	Kidney clear cell sarcoma	Enrichment	YWHAE	0.52
1053	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	LMNA, VCP	0.52
1054	Alzheimer disease, familial, 1	Enrichment	NOS3, VCP	0.50
1055	Hypertension, essential	Enrichment	GNB3, NOS3	0.50
1056	Cleft palate, isolated	Enrichment	AMER1, GNB1	0.50
1057	Sudden infant death syndrome	Enrichment	CALM2, DEPDC5	0.50
1058	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3	0.49
1059	Fanconi anemia, complementation group a	Enrichment	BRCA1, PALB2, VHL	0.48
1060	Cowden syndrome 1	Enrichment	PIK3CA	0.47
1061	Weyers acrofacial dysostosis	Enrichment	CTNNB1	0.47
1062	Hemihyperplasia, isolated	Enrichment	PIK3CA	0.47
1063	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.47
1064	Chronic mucocutaneous candidiasis	Enrichment	STAT1	0.47
1065	Fetomaternal alloimmune thrombocytopenia 1	Enrichment	ITGB3	0.47
1066	Childhood absence epilepsy	Enrichment	CACNA1H	0.47
1067	Neuromuscular disease	Enrichment	LMNA, TRPV4	0.47
1068	Long qt syndrome	Enrichment	CALM1, CALM2, LMNA	0.47
1069	Esophageal cancer	Enrichment	TP53	0.46
1070	Bethlem myopathy 1a	Enrichment	LMNA	0.46
1071	Mitochondrial dna depletion syndrome 4a	Enrichment	RANBP2	0.46
1072	Silver-russell syndrome 1	Enrichment	HMGA2	0.46
1073	Myelofibrosis	Enrichment	CALR	0.46
1074	Squamous cell carcinoma, head and neck	Enrichment	TP53	0.46
1075	Myasthenic syndrome, congenital, 1a, slow-channel	Enrichment	MINK1	0.46
1076	Dyskeratosis congenita, autosomal dominant 2	Enrichment	TINF2	0.46
1077	Adams-oliver syndrome	Enrichment	NOTCH1	0.46
1078	Motor neuron disease	Enrichment	SOD1	0.46
1079	Megacolon	Enrichment	AKT3	0.46
1080	Common variable immunodeficiency	Enrichment	NFKB1	0.46
1081	Hemolytic anemia	Enrichment	HBB	0.46
1082	Autosomal dominant sleep-related hypermotor epilepsy	Enrichment	DEPDC5	0.46
1083	Overgrowth syndrome	Enrichment	MTOR	0.46
1084	Hereditary clear cell renal cell carcinoma	Enrichment	FLCN	0.46
1085	Cardiomyopathy, dilated, 1a	Enrichment	BAG3, LMNA	0.46
1086	Fetal akinesia deformation sequence 1	Enrichment	EXOSC3, NUP88, TUBA1A	0.44
1087	Leber hereditary optic neuropathy, modifier of	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.44
1088	Fetal hemoglobin quantitative trait locus 1	Enrichment	HBB	0.42
1089	Gastroesophageal reflux	Enrichment	RPS6KA3	0.42
1090	Renal hypodysplasia/aplasia 1	Enrichment	MAP4K4	0.42
1091	Methylmalonic aciduria and homocystinuria, cblc type	Enrichment	PRDX1	0.42
1092	Lymphoma, non-hodgkin, familial	Enrichment	TP53	0.42
1093	Orthostatic intolerance	Enrichment	RPS6KA3	0.42
1094	Mitochondrial dna depletion syndrome 4b	Enrichment	RANBP2	0.42
1095	Lennox-gastaut syndrome	Enrichment	MAPK10	0.42
1096	Cryptorchidism	Enrichment	TUBA1A	0.42
1097	Homozygous familial hypercholesterolemia	Enrichment	APOB	0.42
1098	Permanent neonatal diabetes mellitus	Enrichment	STAT3	0.42
1099	Difference of sex development	Enrichment	AR	0.42
1100	Early-onset posterior polar cataract	Enrichment	CRYAB	0.42
1101	Nevus, epidermal	Enrichment	PIK3CA	0.42
1102	Brugada syndrome 1	Enrichment	CACNA2D1	0.42
1103	Glanzmann thrombasthenia 1	Enrichment	ITGB3	0.42
1104	Capillary malformation-arteriovenous malformation 1	Enrichment	PIK3CA	0.42
1105	Leukemia, chronic myeloid	Enrichment	ABL1	0.42
1106	Brachydactyly	Enrichment	GNAS	0.42
1107	Moyamoya angiopathy	Enrichment	ABL1	0.42
1108	Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.42
1109	Hepatoblastoma	Enrichment	CTNNB1, TP53	0.39
1110	Leukemia, acute myeloid	Enrichment	IDH1, NUP214, TP53	0.38
1111	Cardiomyopathy, familial hypertrophic, 4	Enrichment	NCF1	0.38
1112	Charge syndrome	Enrichment	EP300	0.38
1113	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	0.38
1114	Inflammatory bowel disease 1	Enrichment	IL6	0.38
1115	Arrhythmogenic right ventricular dysplasia, familial, 9	Enrichment	LMNA	0.38
1116	Leukemia, acute lymphoblastic 3	Enrichment	PALB2	0.38
1117	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	TNRC6B	0.38
1118	Progressive non-fluent aphasia	Enrichment	VCP	0.38
1119	Cystic kidney disease	Enrichment	DNAJB11	0.38
1120	Ventricular septal defect	Enrichment	RPS6KA3	0.38
1121	Hypotrichosis simplex	Enrichment	RPL21	0.38
1122	Erythrokeratodermia variabilis et progressiva 1	Enrichment	GJA1	0.37
1123	Spastic paraplegia 4, autosomal dominant	Enrichment	GNAS	0.37
1124	Exudative vitreoretinopathy	Enrichment	CTNNB1	0.37
1125	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.37
1126	Hypothyroidism	Enrichment	GNB1	0.37
1127	Attention deficit-hyperactivity disorder	Enrichment	GNB5, RPL17	0.36
1128	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.35
1129	Nephrocalcinosis	Enrichment	ATP6V1B1	0.35
1130	Melanoma	Enrichment	CDKN2A	0.35
1131	Nephrolithiasis	Enrichment	ATP6V1B1	0.35
1132	Achromatopsia	Enrichment	ATF6	0.35
1133	Progressive myoclonus epilepsy	Enrichment	GOSR2	0.35
1134	Rare mitochondrial non-syndromic sensorineural deafness	Enrichment	MT-CO1	0.35
1135	Arteriovenous malformation	Enrichment	PIK3CA	0.34
1136	Hydrops fetalis	Enrichment	PIEZO1	0.34
1137	Migraine with or without aura 1	Enrichment	ESR1	0.32
1138	Immune deficiency disease	Enrichment	ATM	0.32
1139	Asthma	Enrichment	FKBP5	0.32
1140	Frontotemporal dementia 1	Enrichment	DCTN1	0.32
1141	Atrial heart septal defect	Enrichment	RPL5	0.32
1142	Diabetes mellitus	Enrichment	WFS1	0.32
1143	Heritable pulmonary arterial hypertension	Enrichment	EIF2AK4	0.32
1144	Interatrial communication	Enrichment	RPL5	0.32
1145	Early-onset lamellar cataract	Enrichment	CRYAB	0.32
1146	Cerebral palsy	Enrichment	GNB1, TUBA1A, TUBB4A	0.31
1147	Stroke, ischemic	Enrichment	NOS3	0.30
1148	Myopathy, x-linked, with excessive autophagy	Enrichment	PIK3CA	0.30
1149	Autosomal non-syndromic agammaglobulinemia	Enrichment	PIK3CD	0.30
1150	Primary bone dysplasia	Enrichment	TRPV4	0.30
1151	Hirschsprung disease 1	Enrichment	ATP7A, NUP98	0.29
1152	Cardiac conduction defect	Enrichment	LMNA	0.29
1153	Epicanthus	Enrichment	RPL17	0.29
1154	Muscular dystrophy, limb-girdle, autosomal recessive 2	Enrichment	LMNA	0.29
1155	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC1H1	0.29
1156	Congenital hypothyroidism	Enrichment	TUBB1	0.29
1157	Early-onset parkinson's disease	Enrichment	HTRA2	0.29
1158	Cutis laxa	Enrichment	ATP6V1E1	0.29
1159	46 xx gonadal dysgenesis	Enrichment	NUP107	0.29
1160	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	Enrichment	LMNA	0.29
1161	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	Enrichment	LMNA	0.29
1162	Undetermined early-onset epileptic encephalopathy	Enrichment	ATP6V1A, CACNA2D1, FZR1, SZT2	0.29
1163	Epilepsy, idiopathic generalized	Enrichment	CACNA1H	0.27
1164	Osteochondrodysplasia	Enrichment	TRPV4	0.27
1165	Lung non-small cell carcinoma	Enrichment	PIK3CA	0.27
1166	Aortic valve disease 1	Enrichment	NOTCH1	0.27
1167	Diaphragmatic hernia, congenital	Enrichment	LONP1	0.27
1168	Hypercholesterolemia, familial, 1	Enrichment	APOB	0.27
1169	Osteogenesis imperfecta, type iv	Enrichment	MBTPS2	0.27
1170	Pulmonary disease, chronic obstructive	Enrichment	HMOX1	0.27
1171	Alzheimer's disease	Enrichment	VCP	0.27
1172	Premature menopause	Enrichment	NBN	0.27
1173	Primary ovarian insufficiency	Enrichment	KDR, NBN, NOS3, RICTOR	0.25
1174	Pheochromocytoma	Enrichment	VHL	0.25
1175	Myoclonic epilepsy of unverricht and lundborg	Enrichment	GOSR2	0.25
1176	Aortic aneurysm, familial thoracic 1	Enrichment	NOTCH1	0.25
1177	Periventricular nodular heterotopia	Enrichment	BRCA1	0.25
1178	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	Enrichment	LMNA	0.25
1179	Microphthalmia/coloboma 12	Enrichment	YAP1	0.23
1180	Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly	Enrichment	TRPV4	0.23
1181	Neural tube defects	Enrichment	ITGB1	0.23
1182	Clubfoot	Enrichment	TRPV4	0.23
1183	Chromosome 1p36 deletion syndrome	Enrichment	HSPG2	0.23
1184	Atypical hemolytic-uremic syndrome	Enrichment	HBB	0.23
1185	Familial hypercholesterolemia	Enrichment	APOB	0.23
1186	Neuronal ceroid lipofuscinosis	Enrichment	TPP1	0.23
1187	Autosomal dominant polycystic kidney disease	Enrichment	DNAJB11	0.23
1188	Spastic ataxia	Enrichment	EXOSC8, TUBB3, WFS1	0.22
1189	Arrhythmogenic right ventricular cardiomyopathy	Enrichment	LMNA	0.21
1190	Medulloblastoma	Enrichment	CTNNB1	0.21
1191	Connective tissue disease	Enrichment	NOTCH1, TRPV4	0.20
1192	Interstitial lung disease 2	Enrichment	PARN	0.19
1193	Dandy-walker syndrome	Enrichment	TUBA1A	0.19
1194	Cardiomyopathy, dilated, 1e	Enrichment	LMNA	0.19
1195	Syndromic intellectual disability	Enrichment	RAI1	0.19
1196	Coloboma of macula	Enrichment	YAP1	0.19
1197	Lynch syndrome	Enrichment	PIK3CA	0.19
1198	Heart, malformation of	Enrichment	MAPK1	0.18
1199	Human immunodeficiency virus type 1	Enrichment	CCL2	0.18
1200	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	0.18
1201	Polycystic kidney disease	Enrichment	DNAJB11	0.18
1202	Behcet syndrome	Enrichment	TLR4	0.17
1203	Congenital myopathy	Enrichment	EXOSC3	0.17
1204	Parkinson's disease	Enrichment	DNAJB6	0.17
1205	Epilepsy	Enrichment	DEPDC5, MT-CO3	0.16
1206	Myopathy	Enrichment	ACADVL, DYNC1H1	0.16
1207	Dystonia	Enrichment	CAMK2B, GNB1	0.16
1208	Polycystic liver disease	Enrichment	CTNNB1	0.16
1209	Autosomal dominant polycystic liver disease	Enrichment	CTNNB1	0.16
1210	Benign epilepsy with centrotemporal spikes	Enrichment	DEPDC5, SZT2	0.16
1211	Williams-beuren syndrome	Enrichment	NCF1	0.16
1212	Leukodystrophy	Enrichment	HSPD1	0.16
1213	Focal segmental glomerulosclerosis	Enrichment	NUP93	0.16
1214	Beckwith-wiedemann syndrome	Enrichment	TRPV4	0.15
1215	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	VHL	0.14
1216	Centralopathic epilepsy	Enrichment	DEPDC5, SZT2	0.14
1217	Tooth agenesis	Enrichment	RANBP2	0.13
1218	Multisystem inflammatory syndrome in children	Enrichment	IFNB1	0.13
1219	Optic atrophy plus syndrome	Enrichment	TUBB6, WFS1	0.13
1220	Systemic lupus erythematosus	Enrichment	ETS1, SPP1	0.13
1221	Brittle bone disorder	Enrichment	CREB3L1	0.13
1222	Parkinson disease, late-onset	Enrichment	DNAJB6	0.12
1223	Cardiomyopathy, familial hypertrophic, 1	Enrichment	LMNA	0.12
1224	Familial atrial fibrillation	Enrichment	NUP155	0.12
1225	Autoinflammatory disease	Enrichment	NLRP3	0.12
1226	Scoliosis	Enrichment	CREBBP	0.12
1227	Muscular dystrophy	Enrichment	LMNA	0.12
1228	Leigh syndrome, nuclear	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.11
1229	Nephrotic syndrome	Enrichment	FN1, NUP93	0.10
1230	Rasopathy	Enrichment	ATP6V1E1	0.10
1231	Auditory neuropathy	Enrichment	TUBB4A	0.10
1232	Congenital stationary night blindness	Enrichment	GNB3	0.10
1233	Autism	Enrichment	CAMK2G, CREBBP, RPL17	0.10
1234	Leber plus disease	Enrichment	MT-CO1, MT-CO2, MT-CO3, TUBB4B	0.09
1235	Rare autosomal dominant non-syndromic sensorineural deafness type dfna	Enrichment	ABCC1, WFS1	0.09
1236	Differentiated thyroid carcinoma	Enrichment	TPR	0.08
1237	Leigh disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.08
1238	Thrombocytopenia	Enrichment	ITGB3, TUBB1	0.08
1239	Strabismus	Enrichment	GNB1	0.07
1240	Visceral heterotaxy 5	Enrichment	CITED2	0.07
1241	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	AR, RPL10L	0.07
1242	Body mass index quantitative trait locus 11	Enrichment	ADCY3, GNAS	0.07
1243	Autosomal recessive non-syndromic intellectual disability	Enrichment	TNIK, TPR	0.07
1244	Severe covid-19	Enrichment	ITGAV	0.06
1245	Male infertility	Enrichment	AR	0.06
1246	Cakut	Enrichment	NRIP1	0.06
1247	Left ventricular noncompaction	Enrichment	LMNA	0.06
1248	Non-syndromic x-linked intellectual disability	Enrichment	RPS6KA3	0.05
1249	Non-syndromic genetic deafness	Enrichment	WFS1	0.05
1250	Mitochondrial disease	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.05
1251	Severe combined immunodeficiency	Enrichment	IKBKB	0.05
1252	Dilated cardiomyopathy	Enrichment	BAG3, LMNA, VCL	0.04
1253	Nonsyndromic hearing loss	Enrichment	WFS1	0.04
1254	West syndrome	Enrichment	TUBA1A	0.03
1255	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	NOTCH1	0.03
1256	Rare autosomal recessive non-syndromic sensorineural deafness type dfnb	Enrichment	ADCY1, GJA1, GOSR2	0.03
1257	Rare genetic deafness	Enrichment	ATP6V1B1, WFS1	0.02
1258	Schizophrenia	Enrichment	EHMT1	0.01
1259	Deafness, autosomal recessive	Enrichment	GOSR2	0.01
1260	Autosomal recessive nonsyndromic deafness	Enrichment	GOSR2	0.01
1261	Cone-rod dystrophy 2	Enrichment	ATF6	0.01
1262	Primary ciliary dyskinesia	Enrichment	PRKAR1B	0.00
1263	Retinitis pigmentosa	Enrichment	MT-CO1, MT-CO2, MT-CO3	0.00
1264	Hereditary retinal dystrophy	Enrichment	ATF6, WFS1	0.00
1265	Fundus dystrophy	Enrichment	ATF6, WFS1	0.00

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

Cellular responses to stimuli

Pathway Network for Cellular responses to stimuli

Member Pathways for Cellular responses to stimuli

Pathways in the Cellular responses to stimuli SuperPath

Associated Genes for Cellular responses to stimuli

Associated Disorders for Cellular responses to stimuli

Disorders associated with Cellular responses to stimuli SuperPath

STRING Interaction Network for Cellular responses to stimuli

Sources for Cellular responses to stimuli