Class I MHC mediated antigen processing and presentation

Pathway network for the Class I MHC mediated antigen processing and presentation SuperPath

Sources:

Reactome

Pathways in the Class I MHC mediated antigen processing and presentation SuperPath

#	Name	Source	Genes
1	Class I MHC mediated antigen processing and presentation	Reactome	ADRM1 ANAPC1 ANAPC10 ANAPC11 ANAPC13 ANAPC2 ANAPC4 ANAPC5 ANAPC7 AREL1 ARIH2 ASB1 ASB10 ASB11 ASB12 ASB13 ASB14 ASB15 ASB16 ASB17 ASB18 ASB2 ASB3 ASB4 ASB5 ASB6 ASB7 ASB8 ASB9 ATG14 ATG7 B2M BCAP31 BECN1 BLMH BTBD1 BTBD6 BTK BTRC CALR CANX CBLB CBLL2 CCNF CD14 CD207 CD36 CDC16 CDC20 CDC23 CDC26 CDC27 CDC34 CHUK CTSL CTSS CTSV CUL1 CUL2 CUL3 CUL5 CUL7 CYBA CYBB DCAF1 DET1 DTX3L DZIP3 ELOB ELOC ERAP1 ERAP2 FBXL12 FBXL13 FBXL14 FBXL15 FBXL16 FBXL18 FBXL19 FBXL20 FBXL22 FBXL3 FBXL4 FBXL5 FBXL7 FBXL8 FBXO10 FBXO11 FBXO15 FBXO17 FBXO2 FBXO21 FBXO22 FBXO27 FBXO30 FBXO31 FBXO32 FBXO4 FBXO40 FBXO41 FBXO44 FBXO6 FBXO7 FBXO9 FBXW10 FBXW11 FBXW12 FBXW2 FBXW4 FBXW5 FBXW7 FBXW8 FBXW9 FCGR1A FGA FGB FGG FZR1 GAN GLMN GPR75-ASB3 HACE1 HECTD1 HECTD2 HECTD3 HECW2 HERC1 HERC2 HERC3 HERC4 HERC5 HERC6 HLA-A HLA-B HLA-C HLA-E HLA-F HLA-G HMGB1 HSPA5 HUWE1 IKBKB IKBKG ITCH ITGAV ITGB5 KBTBD13 KBTBD6 KBTBD7 KBTBD8 KCTD6 KCTD7 KEAP1 KLHL11 KLHL13 KLHL2 KLHL20 KLHL21 KLHL22 KLHL25 KLHL3 KLHL41 KLHL42 KLHL5 KLHL9 LMO7 LNPEP LNX1 LONRF1 LRR1 LRRC41 LRSAM1 LTN1 LY96 MEX3C MGRN1 MIB2 MKRN1 MRC1 MRC2 MYD88 MYLIP NCF1 NCF2 NCF4 NEDD4 NEDD4L NPEPPS PDIA3 PIK3C3 PIK3R4 PJA1 PJA2 PRKN PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSME1 PSME2 RBBP6 RBCK1 RBX1 RCHY1 RLIM RNF111 RNF114 RNF115 RNF123 RNF126 RNF130 RNF138 RNF14 RNF144B RNF182 RNF19A RNF19B RNF213 RNF217 RNF220 RNF25 RNF34 RNF4 RNF41 RNF6 RNF7 RPS27A S100A1 S100A8 S100A9 SAR1B SEC13 SEC22B SEC23A SEC24A SEC24B SEC24C SEC24D SEC31A SEC61A1 SEC61A2 SEC61B SEC61G SEM1 SH3RF1 SIAH1 SIAH2 SKP1 SKP2 SMURF1 SMURF2 SNAP23 SOCS1 SOCS3 SPSB1 SPSB2 SPSB4 STUB1 STX4 TAP1 TAP2 TAPBP THOP1 TIRAP TLR1 TLR2 TLR4 TLR6 TPP2 TRAF7 TRAIP TRIM11 TRIM21 TRIM32 TRIM36 TRIM37 TRIM39 TRIM4 TRIM41 TRIM50 TRIM63 TRIM69 TRIM71 TRIM9 TRIP12 UBA1 UBA3 UBA5 UBA52 UBA6 UBA7 UBAC1 UBB UBC UBE2A UBE2B UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2F UBE2G1 UBE2G2 UBE2H UBE2J1 UBE2J2 UBE2K UBE2L3 UBE2L6 UBE2M UBE2N UBE2O UBE2Q1 UBE2Q2 UBE2R2 UBE2S UBE2U UBE2V1 UBE2V2 UBE2W UBE2Z UBE3A UBE3B UBE3C UBE3D UBE4A UBOX5 UBR1 UBR2 UBR4 UFL1 UNKL VAMP3 VAMP8 VHL WSB1 WWP1 ZBTB16 ZNRF1 ZNRF2 (see all 373) (see less)
2	Adaptive Immune System	Reactome	ACTR10 ACTR1A ACTR1B ADRM1 AHCYL1 AKT1 AKT2 AKT3 ANAPC1 ANAPC10 ANAPC11 ANAPC13 ANAPC2 ANAPC4 ANAPC5 ANAPC7 AP1B1 AP1G1 AP1M1 AP1M2 AP1S1 AP1S2 AP1S3 AP2A1 AP2A2 AP2B1 AP2M1 AP2S1 AREL1 ARF1 ARIH2 ASB1 ASB10 ASB11 ASB12 ASB13 ASB14 ASB15 ASB16 ASB17 ASB18 ASB2 ASB3 ASB4 ASB5 ASB6 ASB7 ASB8 ASB9 ATG14 ATG7 B2M BCAP31 BECN1 BLK BLMH BLNK BTBD1 BTBD6 BTK BTLA BTN1A1 BTN2A1 BTN2A2 BTN3A1 BTN3A2 BTN3A3 BTNL2 BTNL8 BTNL9 BTRC C3 CALM1 CALM2 CALM3 CALR CANX CAPZA1 CAPZA2 CAPZA3 CAPZB CBLB CBLL2 CCNF CD101 CD14 CD160 CD19 CD1A CD1B CD1C CD1D CD200 CD200R1 CD207 CD209 CD22 CD226 CD247 CD274 CD28 CD300A CD300C CD300E CD300LB CD300LD CD300LF CD300LG CD33 CD34 CD36 CD3D CD3E CD3G CD4 CD40 CD40LG CD74 CD79A CD79B CD80 CD81 CD86 CD8A CD8B CD96 CD99 CDC16 CDC20 CDC23 CDC26 CDC27 CDC34 CDC42 CENPE CHUK CLEC2B CLEC2D CLEC4G CLTA CLTC COL17A1 COL1A1 COL1A2 COL2A1 COL3A1 COLEC12 CRTAM CSK CTLA4 CTSA CTSB CTSC CTSD CTSE CTSF CTSH CTSK CTSL CTSO CTSS CTSV CUL1 CUL2 CUL3 CUL5 CUL7 CXADR CYBA CYBB DAPP1 DCAF1 DCTN1 DCTN2 DCTN3 DCTN4 DCTN5 DCTN6 DET1 DNM1 DNM2 DNM3 DTX3L DYNC1H1 DYNC1I1 DYNC1I2 DYNC1LI1 DYNC1LI2 DYNLL1 DYNLL2 DZIP3 ELOB ELOC ENAH ERAP1 ERAP2 EVL FBXL12 FBXL13 FBXL14 FBXL15 FBXL16 FBXL18 FBXL19 FBXL20 FBXL22 FBXL3 FBXL4 FBXL5 FBXL7 FBXL8 FBXO10 FBXO11 FBXO15 FBXO17 FBXO2 FBXO21 FBXO22 FBXO27 FBXO30 FBXO31 FBXO32 FBXO4 FBXO40 FBXO41 FBXO44 FBXO6 FBXO7 FBXO9 FBXW10 FBXW11 FBXW12 FBXW2 FBXW4 FBXW5 FBXW7 FBXW8 FBXW9 FCGR1A FCGR2B FCGR3A FGA FGB FGG FKBP1A FYB1 FYN FZR1 GAN GLMN GPR75-ASB3 GRAP2 GRB2 HACE1 HCST HECTD1 HECTD2 HECTD3 HECW2 HERC1 HERC2 HERC3 HERC4 HERC5 HERC6 HLA-A HLA-B HLA-C HLA-DMA HLA-DMB HLA-DOA HLA-DOB HLA-DPA1 HLA-DPB1 HLA-DQA1 HLA-DQA2 HLA-DQB1 HLA-DQB2 HLA-DRA HLA-DRB1 HLA-DRB3 HLA-DRB4 HLA-DRB5 HLA-E HLA-F HLA-G HMGB1 HRAS HSPA5 HUWE1 ICAM1 ICAM2 ICAM3 ICAM4 ICAM5 ICOS ICOSLG IFI30 IFITM1 IKBKB IKBKG INPP5D ITCH ITGA4 ITGAL ITGAV ITGB1 ITGB2 ITGB5 ITGB7 ITK ITPR1 ITPR2 ITPR3 JAML KBTBD13 KBTBD6 KBTBD7 KBTBD8 KCTD6 KCTD7 KEAP1 KIF11 KIF15 KIF18A KIF20A KIF22 KIF23 KIF26A KIF2A KIF2B KIF2C KIF3A KIF3B KIF3C KIF4A KIF4B KIF5A KIF5B KIFAP3 KIR2DL1 KIR2DL2 KIR2DL3 KIR2DL4 KIR2DS1 KIR2DS2 KIR3DL1 KIR3DL2 KLC1 KLC2 KLC3 KLC4 KLHL11 KLHL13 KLHL2 KLHL20 KLHL21 KLHL22 KLHL25 KLHL3 KLHL41 KLHL42 KLHL5 KLHL9 KLRB1 KLRC1 KLRD1 KLRF1 KLRG1 KLRK1 KRAS LAG3 LAIR1 LAIR2 LAT LCK LCP2 LGMN LILRA1 LILRA2 LILRA3 LILRA4 LILRA5 LILRA6 LILRB1 LILRB2 LILRB4 LILRB5 LMO7 LNPEP LNX1 LONRF1 LRR1 LRRC41 LRSAM1 LTN1 LY96 LYN MADCAM1 MAP3K14 MAP3K7 MAP3K8 MAPKAP1 MEX3C MGRN1 MIB2 MICA MICB MKRN1 MLST8 MRC1 MRC2 MTOR MYD88 MYLIP NCF1 NCF2 NCF4 NCK1 NCR1 NCR2 NCR3 NCR3LG1 NECTIN2 NEDD4 NEDD4L NFATC1 NFATC2 NFATC3 NFKB1 NFKBIA NFKBIB NFKBIE NPDC1 NPEPPS NRAS ORAI1 ORAI2 OSBPL1A OSCAR PAG1 PAK1 PAK2 PAK3 PDCD1 PDCD1LG2 PDIA3 PDPK1 PIANP PIK3AP1 PIK3C3 PIK3CA PIK3CB PIK3CD PIK3CG PIK3R1 PIK3R2 PIK3R3 PIK3R4 PIK3R5 PIK3R6 PILRA PILRB PJA1 PJA2 PLCG1 PLCG2 PPIA PPL PPP2CA PPP2CB PPP2R1A PPP2R1B PPP2R5A PPP2R5B PPP2R5C PPP2R5D PPP2R5E PPP3CA PPP3CB PPP3R1 PRKACA PRKACB PRKACG PRKCB PRKG1 PRKN PRR5 PSMA1 PSMA2 PSMA3 PSMA4 PSMA5 PSMA6 PSMA7 PSMB1 PSMB10 PSMB2 PSMB3 PSMB4 PSMB5 PSMB6 PSMB7 PSMB8 PSMB9 PSMC1 PSMC2 PSMC3 PSMC4 PSMC5 PSMC6 PSMD1 PSMD11 PSMD12 PSMD13 PSMD14 PSMD2 PSMD3 PSMD6 PSMD7 PSMD8 PSME1 PSME2 PTEN PTPN11 PTPN22 PTPN6 PTPRC PTPRJ PVR RAB7A RAC1 RACGAP1 RAET1E RAF1 RAP1A RAP1B RAP1GAP RAP1GAP2 RAPGEF3 RAPGEF4 RASGRP1 RASGRP2 RASGRP3 RBBP6 RBCK1 RBX1 RCHY1 REL RELA RICTOR RILP RIPK2 RLIM RNF111 RNF114 RNF115 RNF123 RNF126 RNF130 RNF138 RNF14 RNF144B RNF182 RNF19A RNF19B RNF213 RNF217 RNF220 RNF25 RNF34 RNF4 RNF41 RNF6 RNF7 RPS27A S100A1 S100A8 S100A9 SAR1B SEC13 SEC22B SEC23A SEC24A SEC24B SEC24C SEC24D SEC31A SEC61A1 SEC61A2 SEC61B SEC61G SELL SEM1 SFTPD SH2D1A SH2D1B SH3GL2 SH3KBP1 SH3RF1 SIAH1 SIAH2 SIGLEC1 SIGLEC10 SIGLEC11 SIGLEC12 SIGLEC5 SIGLEC6 SIGLEC7 SIGLEC8 SIGLEC9 SIPA1 SKP1 SKP2 SLAMF6 SLAMF7 SMURF1 SMURF2 SNAP23 SOCS1 SOCS3 SOS1 SPSB1 SPSB2 SPSB4 SPTBN2 SRC STIM1 STUB1 STX4 SYK TAB2 TAP1 TAP2 TAPBP THEM4 THOP1 TIRAP TLR1 TLR2 TLR4 TLR6 TNFRSF14 TPP2 TRAF6 TRAF7 TRAIP TRAT1 TREM1 TREM2 TREML1 TREML2 TREML4 TRIB3 TRIM11 TRIM21 TRIM32 TRIM36 TRIM37 TRIM39 TRIM4 TRIM41 TRIM50 TRIM63 TRIM69 TRIM71 TRIM9 TRIP12 TRPC1 TUBA1A TUBA1B TUBA1C TUBA3C TUBA3D TUBA3E TUBA4A TUBA4B TUBA8 TUBAL3 TUBB1 TUBB2A TUBB2B TUBB3 TUBB4A TUBB4B TUBB6 TUBB8 TUBB8B TYROBP UBA1 UBA3 UBA5 UBA52 UBA6 UBA7 UBAC1 UBB UBC UBE2A UBE2B UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2F UBE2G1 UBE2G2 UBE2H UBE2J1 UBE2J2 UBE2K UBE2L3 UBE2L6 UBE2M UBE2N UBE2O UBE2Q1 UBE2Q2 UBE2R2 UBE2S UBE2U UBE2V1 UBE2V2 UBE2W UBE2Z UBE3A UBE3B UBE3C UBE3D UBE4A UBOX5 UBR1 UBR2 UBR4 UFL1 ULBP1 ULBP3 UNKL VAMP3 VAMP8 VASP VAV1 VCAM1 VHL WAS WSB1 WWP1 XDH YES1 YWHAB YWHAZ ZAP70 ZBTB16 ZNRF1 ZNRF2 (see all 759) (see less)
3	Antigen processing: Ubiquitination and Proteasome degradation	Reactome	ADRM1 ANAPC1 ANAPC10 ANAPC11 ANAPC13 ANAPC2 ANAPC4 ANAPC5 ANAPC7 AREL1 ARIH2 ASB1 ASB10 ASB11 ASB12 ASB13 ASB14 ASB15 ASB16 ASB17 ASB18 ASB2 ASB3 ASB4 ASB5 ASB6 ASB7 ASB8 ASB9 ATG7 BLMH BTBD1 BTBD6 BTRC CBLB CBLL2 CCNF CDC16 CDC20 CDC23 CDC26 CDC27 CDC34 CUL1 CUL2 CUL3 CUL5 CUL7 DCAF1 DET1 DTX3L DZIP3 ELOB ELOC FBXL12 FBXL13 FBXL14 FBXL15 FBXL16 FBXL18 FBXL19 FBXL20 FBXL22 FBXL3 FBXL4 FBXL5 FBXL7 FBXL8 FBXO10 FBXO11 FBXO15 FBXO17 FBXO2 FBXO21 FBXO22 FBXO27 FBXO30 FBXO31 FBXO32 FBXO4 FBXO40 FBXO41 FBXO44 FBXO6 FBXO7 FBXO9 FBXW10 FBXW11 FBXW12 FBXW2 FBXW4 FBXW5 FBXW7 FBXW8 FBXW9 FZR1 GAN GLMN GPR75-ASB3 HACE1 HECTD1 HECTD2 HECTD3 HECW2 HERC1 HERC2 HERC3 HERC4 HERC5 HERC6 HUWE1 ITCH KBTBD13 KBTBD6 KBTBD7 KBTBD8 KCTD6 KCTD7 KEAP1 KLHL11 KLHL13 KLHL2 KLHL20 KLHL21 KLHL22 KLHL25 KLHL3 KLHL41 KLHL42 KLHL5 KLHL9 LMO7 LNPEP LNX1 LONRF1 LRR1 LRRC41 LRSAM1 LTN1 MEX3C MGRN1 MIB2 MKRN1 MYLIP NEDD4 NEDD4L NPEPPS PJA1 PJA2 PRKN 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 RBBP6 RBCK1 RBX1 RCHY1 RLIM RNF111 RNF114 RNF115 RNF123 RNF126 RNF130 RNF138 RNF14 RNF144B RNF182 RNF19A RNF19B RNF213 RNF217 RNF220 RNF25 RNF34 RNF4 RNF41 RNF6 RNF7 RPS27A SEM1 SH3RF1 SIAH1 SIAH2 SKP1 SKP2 SMURF1 SMURF2 SOCS1 SOCS3 SPSB1 SPSB2 SPSB4 STUB1 THOP1 TPP2 TRAF7 TRAIP TRIM11 TRIM21 TRIM32 TRIM36 TRIM37 TRIM39 TRIM4 TRIM41 TRIM50 TRIM63 TRIM69 TRIM71 TRIM9 TRIP12 UBA1 UBA3 UBA5 UBA52 UBA6 UBA7 UBAC1 UBB UBC UBE2A UBE2B UBE2C UBE2D1 UBE2D2 UBE2D3 UBE2D4 UBE2E1 UBE2E2 UBE2E3 UBE2F UBE2G1 UBE2G2 UBE2H UBE2J1 UBE2J2 UBE2K UBE2L3 UBE2L6 UBE2M UBE2N UBE2O UBE2Q1 UBE2Q2 UBE2R2 UBE2S UBE2U UBE2V1 UBE2V2 UBE2W UBE2Z UBE3A UBE3B UBE3C UBE3D UBE4A UBOX5 UBR1 UBR2 UBR4 UFL1 UNKL VHL WSB1 WWP1 ZBTB16 ZNRF1 ZNRF2 (see all 296) (see less)
4	Neddylation	Reactome	ADRM1 AMER1 ANKRD9 ASB1 ASB10 ASB11 ASB12 ASB13 ASB14 ASB15 ASB16 ASB17 ASB18 ASB2 ASB3 ASB4 ASB5 ASB6 ASB7 ASB8 ASB9 BIRC5 BRCA1 BTBD1 BTBD6 BTRC CAND1 CCDC22 CCDC8 CCNF CDKN1A CISH COMMD1 COMMD10 COMMD2 COMMD3 COMMD4 COMMD5 COMMD6 COMMD7 COMMD8 COMMD9 COP1 COPS2 COPS3 COPS4 COPS5 COPS6 COPS7A COPS7B COPS8 CUL1 CUL2 CUL3 CUL4A CUL4B CUL5 CUL7 CUL9 DCAF10 DCAF11 DCAF13 DCAF16 DCAF17 DCAF4 DCAF5 DCAF6 DCAF7 DCAF8 DCUN1D1 DCUN1D2 DCUN1D3 DCUN1D4 DCUN1D5 DDA1 DDB1 DDB2 DPP3 DTL ELOB ELOC EPAS1 ERCC8 FBXL12 FBXL13 FBXL14 FBXL15 FBXL16 FBXL18 FBXL19 FBXL20 FBXL22 FBXL3 FBXL4 FBXL5 FBXL7 FBXL8 FBXO10 FBXO11 FBXO15 FBXO17 FBXO2 FBXO21 FBXO22 FBXO27 FBXO30 FBXO31 FBXO32 FBXO4 FBXO40 FBXO41 FBXO44 FBXO6 FBXO7 FBXO9 FBXW10 FBXW11 FBXW12 FBXW2 FBXW4 FBXW5 FBXW7 FBXW8 FBXW9 FEM1A FEM1B FEM1C GAN GPR75-ASB3 GPS1 HIF1A HIF3A KBTBD13 KBTBD6 KBTBD7 KBTBD8 KCTD6 KCTD7 KEAP1 KLHL11 KLHL13 KLHL2 KLHL20 KLHL21 KLHL22 KLHL25 KLHL3 KLHL41 KLHL42 KLHL5 KLHL9 LMO7 LRR1 LRRC41 MUL1 NAE1 NEDD8 NEURL2 NFE2L2 NPLOC4 NUB1 OBSL1 PALB2 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 PUM2 RBBP5 RBBP7 RBX1 RNF7 RPS27A SEM1 SENP8 SKP1 SKP2 SOCS2 SOCS3 SOCS5 SOCS6 SPSB1 SPSB2 SPSB3 SPSB4 SQSTM1 TULP4 UBA3 UBA52 UBB UBC UBD UBE2D1 UBE2D2 UBE2D3 UBE2F UBE2M UBXN7 UCHL3 UFD1 VCP VHL WDR5 WDTC1 WSB1 WSB2 ZBTB16 (see all 233) (see less)

Gene overlap in member pathways for Class I MHC mediated antigen processing and presentation SuperPath

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

#	Symbol	Description	Category	# Related Pathways
1	GPR75-ASB3	GPR75-ASB3 Readthrough	Protein Coding	4
2	PSMD14	Proteasome 26S Subunit, Non-ATPase 14	Protein Coding	4
3	KLHL41	Kelch Like Family Member 41	Protein Coding	4
4	LRRC41	Leucine Rich Repeat Containing 41	Protein Coding	4
5	FBXW10	F-Box And WD Repeat Domain Containing 10	Protein Coding	4
6	ADRM1	ADRM1 26S Proteasome Ubiquitin Receptor	Protein Coding	4
7	KLHL2	Kelch Like Family Member 2	Protein Coding	4
8	FBXO32	F-Box Protein 32	Protein Coding	4
9	FBXO17	F-Box Protein 17	Protein Coding	4
10	LRR1	Leucine Rich Repeat Protein 1	Protein Coding	4
11	FBXO27	F-Box Protein 27	Protein Coding	4
12	ASB17	Ankyrin Repeat And SOCS Box Containing 17	Protein Coding	4
13	ASB10	Ankyrin Repeat And SOCS Box Containing 10	Protein Coding	4
14	ASB11	Ankyrin Repeat And SOCS Box Containing 11	Protein Coding	4
15	ASB5	Ankyrin Repeat And SOCS Box Containing 5	Protein Coding	4
16	ASB6	Ankyrin Repeat And SOCS Box Containing 6	Protein Coding	4
17	ASB7	Ankyrin Repeat And SOCS Box Containing 7	Protein Coding	4
18	ASB8	Ankyrin Repeat And SOCS Box Containing 8	Protein Coding	4
19	ASB9	Ankyrin Repeat And SOCS Box Containing 9	Protein Coding	4
20	UBE2F	Ubiquitin Conjugating Enzyme E2 F (Putative)	Protein Coding	4
21	ASB15	Ankyrin Repeat And SOCS Box Containing 15	Protein Coding	4
22	ASB14	Ankyrin Repeat And SOCS Box Containing 14	Protein Coding	4
23	ASB12	Ankyrin Repeat And SOCS Box Containing 12	Protein Coding	4
24	FBXL14	F-Box And Leucine Rich Repeat Protein 14	Protein Coding	4
25	FBXL16	F-Box And Leucine Rich Repeat Protein 16	Protein Coding	4
26	FBXO41	F-Box Protein 41	Protein Coding	4
27	KCTD7	Potassium Channel Tetramerization Domain Containing 7	Protein Coding	4
28	KCTD6	Potassium Channel Tetramerization Domain Containing 6	Protein Coding	4
29	FBXO15	F-Box Protein 15	Protein Coding	4
30	FBXL13	F-Box And Leucine Rich Repeat Protein 13	Protein Coding	4
31	FBXO21	F-Box Protein 21	Protein Coding	4
32	FBXL7	F-Box And Leucine Rich Repeat Protein 7	Protein Coding	4
33	FBXW11	F-Box And WD Repeat Domain Containing 11	Protein Coding	4
34	FBXO7	F-Box Protein 7	Protein Coding	4
35	WSB1	WD Repeat And SOCS Box Containing 1	Protein Coding	4
36	FBXW2	F-Box And WD Repeat Domain Containing 2	Protein Coding	4
37	FBXL3	F-Box And Leucine Rich Repeat Protein 3	Protein Coding	4
38	FBXO2	F-Box Protein 2	Protein Coding	4
39	FBXL5	F-Box And Leucine Rich Repeat Protein 5	Protein Coding	4
40	FBXL4	F-Box And Leucine Rich Repeat Protein 4	Protein Coding	4
41	KLHL3	Kelch Like Family Member 3	Protein Coding	4
42	FBXW8	F-Box And WD Repeat Domain Containing 8	Protein Coding	4
43	FBXO22	F-Box Protein 22	Protein Coding	4
44	FBXO10	F-Box Protein 10	Protein Coding	4
45	FBXO9	F-Box Protein 9	Protein Coding	4
46	FBXO6	F-Box Protein 6	Protein Coding	4
47	FBXO4	F-Box Protein 4	Protein Coding	4
48	KLHL20	Kelch Like Family Member 20	Protein Coding	4
49	FBXL22	F-Box And Leucine Rich Repeat Protein 22	Protein Coding	4
50	FBXW12	F-Box And WD Repeat Domain Containing 12	Protein Coding	4
51	KBTBD13	Kelch Repeat And BTB Domain Containing 13	Protein Coding	4
52	LMO7	LIM Domain 7	Protein Coding	4
53	ASB18	Ankyrin Repeat And SOCS Box Containing 18	Protein Coding	4
54	KLHL5	Kelch Like Family Member 5	Protein Coding	4
55	ASB3	Ankyrin Repeat And SOCS Box Containing 3	Protein Coding	4
56	ASB1	Ankyrin Repeat And SOCS Box Containing 1	Protein Coding	4
57	ASB4	Ankyrin Repeat And SOCS Box Containing 4	Protein Coding	4
58	ASB2	Ankyrin Repeat And SOCS Box Containing 2	Protein Coding	4
59	FBXO40	F-Box Protein 40	Protein Coding	4
60	BTBD1	BTB Domain Containing 1	Protein Coding	4
61	FBXW5	F-Box And WD Repeat Domain Containing 5	Protein Coding	4
62	FBXL19	F-Box And Leucine Rich Repeat Protein 19	Protein Coding	4
63	FBXL12	F-Box And Leucine Rich Repeat Protein 12	Protein Coding	4
64	KLHL11	Kelch Like Family Member 11	Protein Coding	4
65	FBXW7	F-Box And WD Repeat Domain Containing 7	Protein Coding	4
66	FBXL8	F-Box And Leucine Rich Repeat Protein 8	Protein Coding	4
67	KLHL9	Kelch Like Family Member 9	Protein Coding	4
68	PSMA1	Proteasome 20S Subunit Alpha 1	Protein Coding	4
69	PSMA2	Proteasome 20S Subunit Alpha 2	Protein Coding	4
70	PSMA3	Proteasome 20S Subunit Alpha 3	Protein Coding	4
71	PSMA4	Proteasome 20S Subunit Alpha 4	Protein Coding	4
72	PSMA5	Proteasome 20S Subunit Alpha 5	Protein Coding	4
73	PSMA6	Proteasome 20S Subunit Alpha 6	Protein Coding	4
74	PSMA7	Proteasome 20S Subunit Alpha 7	Protein Coding	4
75	PSMB1	Proteasome 20S Subunit Beta 1	Protein Coding	4
76	PSMB2	Proteasome 20S Subunit Beta 2	Protein Coding	4
77	PSMB3	Proteasome 20S Subunit Beta 3	Protein Coding	4
78	PSMB4	Proteasome 20S Subunit Beta 4	Protein Coding	4
79	PSMB5	Proteasome 20S Subunit Beta 5	Protein Coding	4
80	PSMB6	Proteasome 20S Subunit Beta 6	Protein Coding	4
81	PSMB7	Proteasome 20S Subunit Beta 7	Protein Coding	4
82	PSMC1	Proteasome 26S Subunit, ATPase 1	Protein Coding	4
83	PSMC2	Proteasome 26S Subunit, ATPase 2	Protein Coding	4
84	PSMC3	Proteasome 26S Subunit, ATPase 3	Protein Coding	4
85	PSMC4	Proteasome 26S Subunit, ATPase 4	Protein Coding	4
86	PSMC5	Proteasome 26S Subunit, ATPase 5	Protein Coding	4
87	PSMC6	Proteasome 26S Subunit, ATPase 6	Protein Coding	4
88	PSMD1	Proteasome 26S Subunit, Non-ATPase 1	Protein Coding	4
89	PSMD2	Proteasome 26S Subunit Ubiquitin Receptor, Non-ATPase 2	Protein Coding	4
90	PSMD3	Proteasome 26S Subunit, Non-ATPase 3	Protein Coding	4
91	PSMD7	Proteasome 26S Subunit, Non-ATPase 7	Protein Coding	4
92	PSMD8	Proteasome 26S Subunit, Non-ATPase 8	Protein Coding	4
93	PSMD11	Proteasome 26S Subunit, Non-ATPase 11	Protein Coding	4
94	PSMD12	Proteasome 26S Subunit, Non-ATPase 12	Protein Coding	4
95	PSMD13	Proteasome 26S Subunit, Non-ATPase 13	Protein Coding	4
96	KLHL42	Kelch Like Family Member 42	Protein Coding	4
97	RPS27A	Ribosomal Protein S27a	Protein Coding	4
98	KLHL25	Kelch Like Family Member 25	Protein Coding	4
99	FBXW4	F-Box And WD Repeat Domain Containing 4~Name Same As:- HGNC:13612	Protein Coding	4
100	SKP1	S-Phase Kinase Associated Protein 1	Protein Coding	4
101	SKP2	S-Phase Kinase Associated Protein 2	Protein Coding	4
102	ELOC	Elongin C	Protein Coding	4
103	ELOB	Elongin B	Protein Coding	4
104	UBA52	Ubiquitin A-52 Residue Ribosomal Protein Fusion Product 1	Protein Coding	4
105	UBB	Ubiquitin B	Protein Coding	4
106	UBC	Ubiquitin C	Protein Coding	4
107	UBE2D1	Ubiquitin Conjugating Enzyme E2 D1	Protein Coding	4
108	UBE2D2	Ubiquitin Conjugating Enzyme E2 D2	Protein Coding	4
109	UBE2D3	Ubiquitin Conjugating Enzyme E2 D3	Protein Coding	4
110	VHL	Von Hippel-Lindau Tumor Suppressor	Protein Coding	4
111	ZBTB16	Zinc Finger And BTB Domain Containing 16	Protein Coding	4
112	FBXL15	F-Box And Leucine Rich Repeat Protein 15	Protein Coding	4
113	ASB13	Ankyrin Repeat And SOCS Box Containing 13	Protein Coding	4
114	SEM1	SEM1 26S Proteasome Subunit	Protein Coding	4
115	FBXO31	F-Box Protein 31	Protein Coding	4
116	FBXL18	F-Box And Leucine Rich Repeat Protein 18	Protein Coding	4
117	SPSB1	SplA/Ryanodine Receptor Domain And SOCS Box Containing 1	Protein Coding	4
118	FBXO11	F-Box Protein 11	Protein Coding	4
119	CUL5	Cullin 5	Protein Coding	4
120	GAN	Gigaxonin	Protein Coding	4
121	KBTBD7	Kelch Repeat And BTB Domain Containing 7	Protein Coding	4
122	FBXO30	F-Box Protein 30	Protein Coding	4
123	FBXW9	F-Box And WD Repeat Domain Containing 9	Protein Coding	4
124	CUL3	Cullin 3	Protein Coding	4
125	CUL2	Cullin 2	Protein Coding	4
126	CUL1	Cullin 1	Protein Coding	4
127	KBTBD8	Kelch Repeat And BTB Domain Containing 8	Protein Coding	4
128	SPSB2	SplA/Ryanodine Receptor Domain And SOCS Box Containing 2	Protein Coding	4
129	KLHL22	Kelch Like Family Member 22	Protein Coding	4
130	FBXL20	F-Box And Leucine Rich Repeat Protein 20	Protein Coding	4
131	BTRC	Beta-Transducin Repeat Containing E3 Ubiquitin Protein Ligase	Protein Coding	4
132	KBTBD6	Kelch Repeat And BTB Domain Containing 6	Protein Coding	4
133	CCNF	Cyclin F	Protein Coding	4
134	BTBD6	BTB Domain Containing 6	Protein Coding	4
135	SOCS3	Suppressor Of Cytokine Signaling 3	Protein Coding	4
136	KLHL13	Kelch Like Family Member 13	Protein Coding	4
137	UBA3	Ubiquitin Like Modifier Activating Enzyme 3	Protein Coding	4
138	UBE2M	Ubiquitin Conjugating Enzyme E2 M	Protein Coding	4
139	SPSB4	SplA/Ryanodine Receptor Domain And SOCS Box Containing 4	Protein Coding	4
140	ASB16	Ankyrin Repeat And SOCS Box Containing 16	Protein Coding	4
141	FBXO44	F-Box Protein 44	Protein Coding	4
142	RNF7	Ring Finger Protein 7	Protein Coding	4
143	KEAP1	Kelch Like ECH Associated Protein 1	Protein Coding	4
144	CUL7	Cullin 7	Protein Coding	4
145	PSMD6	Proteasome 26S Subunit, Non-ATPase 6	Protein Coding	4
146	KLHL21	Kelch Like Family Member 21	Protein Coding	4
147	RBX1	Ring-Box 1	Protein Coding	4
148	HUWE1	HECT, UBA And WWE Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	3
149	RNF41	Ring Finger Protein 41	Protein Coding	3
150	STUB1	STIP1 Homology And U-Box Containing Protein 1	Protein Coding	3
151	TRAIP	TRAF Interacting Protein	Protein Coding	3
152	ANAPC10	Anaphase Promoting Complex Subunit 10	Protein Coding	3
153	UBAC1	UBA Domain Containing 1	Protein Coding	3
154	ARIH2	Ariadne RBR E3 Ubiquitin Protein Ligase 2	Protein Coding	3
155	UBE2E3	Ubiquitin Conjugating Enzyme E2 E3	Protein Coding	3
156	ATG7	Autophagy Related 7	Protein Coding	3
157	RBCK1	RANBP2-Type And C3HC4-Type Zinc Finger Containing 1	Protein Coding	3
158	WWP1	WW Domain Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	3
159	UBE2C	Ubiquitin Conjugating Enzyme E2 C	Protein Coding	3
160	GLMN	Glomulin, FKBP Associated Protein	Protein Coding	3
161	TRIM9	Tripartite Motif Containing 9	Protein Coding	3
162	UBE2J2	Ubiquitin Conjugating Enzyme E2 J2	Protein Coding	3
163	RNF19B	Ring Finger Protein 19B	Protein Coding	3
164	TRIM71	Tripartite Motif Containing 71	Protein Coding	3
165	TRIM50	Tripartite Motif Containing 50	Protein Coding	3
166	TRIM69	Tripartite Motif Containing 69	Protein Coding	3
167	MIB2	MIB E3 Ubiquitin Protein Ligase 2	Protein Coding	3
168	HECTD2	HECT Domain E3 Ubiquitin Protein Ligase 2	Protein Coding	3
169	UBE2U	Ubiquitin Conjugating Enzyme E2 U	Protein Coding	3
170	DTX3L	Deltex E3 Ubiquitin Ligase 3L	Protein Coding	3
171	RNF217	Ring Finger Protein 217	Protein Coding	3
172	CBLL2	Cbl Proto-Oncogene Like 2	Protein Coding	3
173	UBR1	Ubiquitin Protein Ligase E3 Component N-Recognin 1	Protein Coding	3
174	RNF182	Ring Finger Protein 182	Protein Coding	3
175	ZNRF2	Zinc And Ring Finger 2	Protein Coding	3
176	UBOX5	U-Box Domain Containing 5	Protein Coding	3
177	TRIM32	Tripartite Motif Containing 32	Protein Coding	3
178	MGRN1	Mahogunin Ring Finger 1	Protein Coding	3
179	UBR2	Ubiquitin Protein Ligase E3 Component N-Recognin 2	Protein Coding	3
180	NEDD4L	NEDD4 Like E3 Ubiquitin Protein Ligase	Protein Coding	3
181	UBR4	Ubiquitin Protein Ligase E3 Component N-Recognin 4	Protein Coding	3
182	UFL1	UFM1 Specific Ligase 1	Protein Coding	3
183	MKRN1	Makorin Ring Finger Protein 1	Protein Coding	3
184	CDC26	Cell Division Cycle 26	Protein Coding	3
185	RNF144B	Ring Finger Protein 144B	Protein Coding	3
186	HECTD1	HECT Domain E3 Ubiquitin Protein Ligase 1	Protein Coding	3
187	ANAPC13	Anaphase Promoting Complex Subunit 13	Protein Coding	3
188	RNF19A	Ring Finger Protein 19A, RBR E3 Ubiquitin Protein Ligase	Protein Coding	3
189	RCHY1	Ring Finger And CHY Zinc Finger Domain Containing 1	Protein Coding	3
190	LTN1	Listerin E3 Ubiquitin Protein Ligase 1	Protein Coding	3
191	HERC4	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 4	Protein Coding	3
192	RNF115	Ring Finger Protein 115	Protein Coding	3
193	UBE2S	Ubiquitin Conjugating Enzyme E2 S	Protein Coding	3
194	MYLIP	Myosin Regulatory Light Chain Interacting Protein	Protein Coding	3
195	ANAPC2	Anaphase Promoting Complex Subunit 2	Protein Coding	3
196	ANAPC4	Anaphase Promoting Complex Subunit 4	Protein Coding	3
197	UBE2K	Ubiquitin Conjugating Enzyme E2 K	Protein Coding	3
198	LNPEP	Leucyl And Cystinyl Aminopeptidase	Protein Coding	3
199	TRIM37	Tripartite Motif Containing 37	Protein Coding	3
200	NEDD4	NEDD4 E3 Ubiquitin Protein Ligase	Protein Coding	3
201	PRKN	Parkin RBR E3 Ubiquitin Protein Ligase	Protein Coding	3
202	RLIM	Ring Finger Protein, LIM Domain Interacting	Protein Coding	3
203	HERC5	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 5	Protein Coding	3
204	MEX3C	Mex-3 RNA Binding Family Member C	Protein Coding	3
205	FZR1	Fizzy And Cell Division Cycle 20 Related 1	Protein Coding	3
206	ANAPC5	Anaphase Promoting Complex Subunit 5	Protein Coding	3
207	ANAPC7	Anaphase Promoting Complex Subunit 7	Protein Coding	3
208	RNF138	Ring Finger Protein 138	Protein Coding	3
209	UBE2J1	Ubiquitin Conjugating Enzyme E2 J1	Protein Coding	3
210	ANAPC11	Anaphase Promoting Complex Subunit 11	Protein Coding	3
211	UBE2D4	Ubiquitin Conjugating Enzyme E2 D4	Protein Coding	3
212	RNF111	Ring Finger Protein 111	Protein Coding	3
213	UBE2R2	Ubiquitin Conjugating Enzyme E2 R2	Protein Coding	3
214	HERC6	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 6	Protein Coding	3
215	DET1	DET1 Partner Of COP1 E3 Ubiquitin Ligase	Protein Coding	3
216	RNF220	Ring Finger Protein 220	Protein Coding	3
217	UBA6	Ubiquitin Like Modifier Activating Enzyme 6	Protein Coding	3
218	UBE2W	Ubiquitin Conjugating Enzyme E2 W	Protein Coding	3
219	TRIM36	Tripartite Motif Containing 36	Protein Coding	3
220	UBE2Q1	Ubiquitin Conjugating Enzyme E2 Q1	Protein Coding	3
221	RNF126	Ring Finger Protein 126	Protein Coding	3
222	RNF130	Ring Finger Protein 130	Protein Coding	3
223	RNF114	Ring Finger Protein 114	Protein Coding	3
224	TRIM39	Tripartite Motif Containing 39	Protein Coding	3
225	SMURF1	SMAD Specific E3 Ubiquitin Protein Ligase 1	Protein Coding	3
226	HECW2	HECT, C2 And WW Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	3
227	HACE1	HECT Domain And Ankyrin Repeat Containing E3 Ubiquitin Protein Ligase 1	Protein Coding	3
228	SH3RF1	SH3 Domain Containing Ring Finger 1	Protein Coding	3
229	RNF213	Ring Finger Protein 213	Protein Coding	3
230	RBBP6	RB Binding Protein 6, Ubiquitin Ligase	Protein Coding	3
231	RNF4	Ring Finger Protein 4	Protein Coding	3
232	RNF6	Ring Finger Protein 6	Protein Coding	3
233	RNF123	Ring Finger Protein 123	Protein Coding	3
234	UBE2O	Ubiquitin Conjugating Enzyme E2 O	Protein Coding	3
235	BLMH	Bleomycin Hydrolase	Protein Coding	3
236	PJA1	Praja Ring Finger Ubiquitin Ligase 1	Protein Coding	3
237	RNF25	Ring Finger Protein 25	Protein Coding	3
238	ANAPC1	Anaphase Promoting Complex Subunit 1	Protein Coding	3
239	UNKL	Unk Like Zinc Finger	Protein Coding	3
240	SMURF2	SMAD Specific E3 Ubiquitin Protein Ligase 2	Protein Coding	3
241	SIAH1	Siah E3 Ubiquitin Protein Ligase 1	Protein Coding	3
242	SIAH2	Siah E3 Ubiquitin Protein Ligase 2	Protein Coding	3
243	UBE2Z	Ubiquitin Conjugating Enzyme E2 Z	Protein Coding	3
244	TRIM21	Tripartite Motif Containing 21	Protein Coding	3
245	THOP1	Thimet Oligopeptidase 1	Protein Coding	3
246	TPP2	Tripeptidyl Peptidase 2	Protein Coding	3
247	UBA1	Ubiquitin Like Modifier Activating Enzyme 1	Protein Coding	3
248	UBA7	Ubiquitin Like Modifier Activating Enzyme 7	Protein Coding	3
249	UBE2A	Ubiquitin Conjugating Enzyme E2 A	Protein Coding	3
250	UBE2B	Ubiquitin Conjugating Enzyme E2 B	Protein Coding	3
251	UBE2E1	Ubiquitin Conjugating Enzyme E2 E1	Protein Coding	3
252	UBE2E2	Ubiquitin Conjugating Enzyme E2 E2	Protein Coding	3
253	UBE2G1	Ubiquitin Conjugating Enzyme E2 G1	Protein Coding	3
254	UBE2G2	Ubiquitin Conjugating Enzyme E2 G2	Protein Coding	3
255	UBE2H	Ubiquitin Conjugating Enzyme E2 H	Protein Coding	3
256	UBE2L3	Ubiquitin Conjugating Enzyme E2 L3	Protein Coding	3
257	UBE2N	Ubiquitin Conjugating Enzyme E2 N	Protein Coding	3
258	UBE2V1	Ubiquitin Conjugating Enzyme E2 V1	Protein Coding	3
259	UBE2V2	Ubiquitin Conjugating Enzyme E2 V2	Protein Coding	3
260	UBE3A	Ubiquitin Protein Ligase E3A	Protein Coding	3
261	HECTD3	HECT Domain E3 Ubiquitin Protein Ligase 3	Protein Coding	3
262	UBA5	Ubiquitin Like Modifier Activating Enzyme 5	Protein Coding	3
263	RNF34	Ring Finger Protein 34	Protein Coding	3
264	TRIM11	Tripartite Motif Containing 11	Protein Coding	3
265	ITCH	Itchy E3 Ubiquitin Protein Ligase	Protein Coding	3
266	TRAF7	TNF Receptor Associated Factor 7	Protein Coding	3
267	TRIM63	Tripartite Motif Containing 63	Protein Coding	3
268	LNX1	Ligand Of Numb-Protein X 1	Protein Coding	3
269	ZNRF1	Zinc And Ring Finger 1	Protein Coding	3
270	SOCS1	Suppressor Of Cytokine Signaling 1	Protein Coding	3
271	CBLB	Cbl Proto-Oncogene B	Protein Coding	3
272	CDC23	Cell Division Cycle 23	Protein Coding	3
273	CDC16	Cell Division Cycle 16	Protein Coding	3
274	TRIM4	Tripartite Motif Containing 4	Protein Coding	3
275	HERC3	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 3	Protein Coding	3
276	HERC2	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase 2	Protein Coding	3
277	HERC1	HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1	Protein Coding	3
278	UBE3B	Ubiquitin Protein Ligase E3B	Protein Coding	3
279	UBE3D	Ubiquitin Protein Ligase E3D	Protein Coding	3
280	LRSAM1	Leucine Rich Repeat And Sterile Alpha Motif Containing 1	Protein Coding	3
281	TRIM41	Tripartite Motif Containing 41	Protein Coding	3
282	LONRF1	LON Peptidase N-Terminal Domain And Ring Finger 1	Protein Coding	3
283	UBE2L6	Ubiquitin Conjugating Enzyme E2 L6	Protein Coding	3
284	UBE2Q2	Ubiquitin Conjugating Enzyme E2 Q2	Protein Coding	3
285	TRIP12	Thyroid Hormone Receptor Interactor 12	Protein Coding	3
286	UBE4A	Ubiquitination Factor E4A	Protein Coding	3
287	NPEPPS	Aminopeptidase Puromycin Sensitive	Protein Coding	3
288	RNF14	Ring Finger Protein 14	Protein Coding	3
289	DZIP3	DAZ Interacting Zinc Finger Protein 3	Protein Coding	3
290	UBE3C	Ubiquitin Protein Ligase E3C	Protein Coding	3
291	DCAF1	DDB1 And CUL4 Associated Factor 1	Protein Coding	3
292	PJA2	Praja Ring Finger Ubiquitin Ligase 2	Protein Coding	3
293	AREL1	Apoptosis Resistant E3 Ubiquitin Protein Ligase 1	Protein Coding	3
294	CDC20	Cell Division Cycle 20	Protein Coding	3
295	CDC27	Cell Division Cycle 27	Protein Coding	3
296	CDC34	Cell Division Cycle 34, Ubiquitin Conjugating Enzyme	Protein Coding	3
297	BCAP31	B Cell Receptor Associated Protein 31	Protein Coding	2
298	TLR6	Toll Like Receptor 6	Protein Coding	2
299	SEC24B	SEC24 Homolog B, COPII Component	Protein Coding	2
300	SEC23A	SEC23 Homolog A, COPII Component	Protein Coding	2
301	SEC24A	SEC24 Homolog A, COPII Component	Protein Coding	2
302	SEC61B	SEC61 Translocon Subunit Beta	Protein Coding	2
303	TIRAP	TIR Domain Containing Adaptor Protein	Protein Coding	2
304	CHUK	Component Of Inhibitor Of Nuclear Factor Kappa B Kinase Complex	Protein Coding	2
305	CTSL	Cathepsin L	Protein Coding	2
306	CTSV	Cathepsin V	Protein Coding	2
307	CTSS	Cathepsin S	Protein Coding	2
308	CYBA	Cytochrome B-245 Alpha Chain	Protein Coding	2
309	CYBB	Cytochrome B-245 Beta Chain	Protein Coding	2
310	FCGR1A	Fc Gamma Receptor Ia	Protein Coding	2
311	FGA	Fibrinogen Alpha Chain	Protein Coding	2
312	FGB	Fibrinogen Beta Chain	Protein Coding	2
313	FGG	Fibrinogen Gamma Chain	Protein Coding	2
314	ATG14	Autophagy Related 14	Protein Coding	2
315	SEC31A	SEC31 Homolog A, COPII Component	Protein Coding	2
316	SEC61G	SEC61 Translocon Subunit Gamma	Protein Coding	2
317	LY96	Lymphocyte Antigen 96	Protein Coding	2
318	PDIA3	Protein Disulfide Isomerase Family A Member 3	Protein Coding	2
319	SEC61A1	SEC61 Translocon Subunit Alpha 1	Protein Coding	2
320	PIK3R4	Phosphoinositide-3-Kinase Regulatory Subunit 4	Protein Coding	2
321	HLA-A	Major Histocompatibility Complex, Class I, A	Protein Coding	2
322	HLA-B	Major Histocompatibility Complex, Class I, B	Protein Coding	2
323	HLA-C	Major Histocompatibility Complex, Class I, C	Protein Coding	2
324	HLA-E	Major Histocompatibility Complex, Class I, E	Protein Coding	2
325	HLA-F	Major Histocompatibility Complex, Class I, F	Protein Coding	2
326	HLA-G	Major Histocompatibility Complex, Class I, G	Protein Coding	2
327	HMGB1	High Mobility Group Box 1	Protein Coding	2
328	HSPA5	Heat Shock Protein Family A (Hsp70) Member 5	Protein Coding	2
329	IKBKB	Inhibitor Of Nuclear Factor Kappa B Kinase Subunit Beta	Protein Coding	2
330	ITGAV	Integrin Subunit Alpha V	Protein Coding	2
331	ITGB5	Integrin Subunit Beta 5	Protein Coding	2
332	MRC1	Mannose Receptor C-Type 1	Protein Coding	2
333	MYD88	MYD88 Innate Immune Signal Transduction Adaptor	Protein Coding	2
334	NCF2	Neutrophil Cytosolic Factor 2	Protein Coding	2
335	NCF4	Neutrophil Cytosolic Factor 4	Protein Coding	2
336	CD207	CD207 Molecule	Protein Coding	2
337	SAR1B	Secretion Associated Ras Related GTPase 1B	Protein Coding	2
338	ERAP1	Endoplasmic Reticulum Aminopeptidase 1	Protein Coding	2
339	PIK3C3	Phosphatidylinositol 3-Kinase Catalytic Subunit Type 3	Protein Coding	2
340	SEC61A2	SEC61 Translocon Subunit Alpha 2	Protein Coding	2
341	B2M	Beta-2-Microglobulin	Protein Coding	2
342	PSMB8	Proteasome 20S Subunit Beta 8	Protein Coding	2
343	PSMB9	Proteasome 20S Subunit Beta 9	Protein Coding	2
344	PSMB10	Proteasome 20S Subunit Beta 10	Protein Coding	2
345	PSME1	Proteasome Activator Subunit 1	Protein Coding	2
346	PSME2	Proteasome Activator Subunit 2	Protein Coding	2
347	S100A1	S100 Calcium Binding Protein A1	Protein Coding	2
348	S100A8	S100 Calcium Binding Protein A8	Protein Coding	2
349	S100A9	S100 Calcium Binding Protein A9	Protein Coding	2
350	SEC13	SEC13 Homolog, Nuclear Pore And COPII Component	Protein Coding	2
351	ERAP2	Endoplasmic Reticulum Aminopeptidase 2	Protein Coding	2
352	NCF1	Neutrophil Cytosolic Factor 1	Protein Coding	2
353	STX4	Syntaxin 4	Protein Coding	2
354	TAP1	Transporter 1, ATP Binding Cassette Subfamily B Member	Protein Coding	2
355	TAP2	Transporter 2, ATP Binding Cassette Subfamily B Member	Protein Coding	2
356	TAPBP	TAP Binding Protein	Protein Coding	2
357	BTK	Bruton Tyrosine Kinase	Protein Coding	2
358	TLR1	Toll Like Receptor 1	Protein Coding	2
359	TLR2	Toll Like Receptor 2	Protein Coding	2
360	TLR4	Toll Like Receptor 4	Protein Coding	2
361	CALR	Calreticulin	Protein Coding	2
362	CANX	Calnexin	Protein Coding	2
363	IKBKG	Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma	Protein Coding	2
364	VAMP8	Vesicle Associated Membrane Protein 8	Protein Coding	2
365	BECN1	Beclin 1	Protein Coding	2
366	SNAP23	Synaptosome Associated Protein 23	Protein Coding	2
367	CD14	CD14 Molecule	Protein Coding	2
368	VAMP3	Vesicle Associated Membrane Protein 3	Protein Coding	2
369	CD36	CD36 Molecule (CD36 Blood Group)	Protein Coding	2
370	SEC22B	SEC22 Homolog B, Vesicle Trafficking Protein	Protein Coding	2
371	SEC24C	SEC24 Homolog C, COPII Component	Protein Coding	2
372	SEC24D	SEC24 Homolog D, COPII Component	Protein Coding	2
373	MRC2	Mannose Receptor C-Type 2	Protein Coding	2
374	AKT3	AKT Serine/Threonine Kinase 3	Protein Coding	1
375	CD300LD	CD300 Molecule Like Family Member D	Protein Coding	1
376	KIR2DS2	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 2	Protein Coding	1
377	MICA	MHC Class I Polypeptide-Related Sequence A	Protein Coding	1
378	AP1M2	Adaptor Related Protein Complex 1 Subunit Mu 2	Protein Coding	1
379	KIF20A	Kinesin Family Member 20A	Protein Coding	1
380	ACTR1B	Actin Related Protein 1B	Protein Coding	1
381	ACTR1A	Actin Related Protein 1A	Protein Coding	1
382	RASGRP1	RAS Guanyl Releasing Protein 1	Protein Coding	1
383	KLRG1	Killer Cell Lectin Like Receptor G1	Protein Coding	1
384	CD96	CD96 Molecule	Protein Coding	1
385	RASGRP2	RAS Guanyl Releasing Protein 2	Protein Coding	1
386	LILRB2	Leukocyte Immunoglobulin Like Receptor B2	Protein Coding	1
387	TUBA1B	Tubulin Alpha 1b	Protein Coding	1
388	TUBB3	Tubulin Beta 3 Class III	Protein Coding	1
389	TUBB4A	Tubulin Beta 4A Class IVa	Protein Coding	1
390	TUBB4B	Tubulin Beta 4B Class IVb	Protein Coding	1
391	BTN3A3	Butyrophilin Subfamily 3 Member A3	Protein Coding	1
392	BTN2A2	Butyrophilin Subfamily 2 Member A2	Protein Coding	1
393	RAPGEF3	Rap Guanine Nucleotide Exchange Factor 3	Protein Coding	1
394	IFI30	IFI30 Lysosomal Thiol Reductase	Protein Coding	1
395	DCTN2	Dynactin Subunit 2	Protein Coding	1
396	CENPE	Centromere Protein E	Protein Coding	1
397	CD226	CD226 Molecule	Protein Coding	1
398	DCTN6	Dynactin Subunit 6	Protein Coding	1
399	CTSC	Cathepsin C	Protein Coding	1
400	AHCYL1	Adenosylhomocysteinase Like 1	Protein Coding	1
401	LILRB1	Leukocyte Immunoglobulin Like Receptor B1	Protein Coding	1
402	HCST	Hematopoietic Cell Signal Transducer	Protein Coding	1
403	CD300C	CD300c Molecule	Protein Coding	1
404	LILRB5	Leukocyte Immunoglobulin Like Receptor B5	Protein Coding	1
405	KIF2C	Kinesin Family Member 2C	Protein Coding	1
406	LILRB4	Leukocyte Immunoglobulin Like Receptor B4	Protein Coding	1
407	LILRA1	Leukocyte Immunoglobulin Like Receptor A1	Protein Coding	1
408	LILRA3	Leukocyte Immunoglobulin Like Receptor A3	Protein Coding	1
409	LILRA2	Leukocyte Immunoglobulin Like Receptor A2	Protein Coding	1
410	RAPGEF4	Rap Guanine Nucleotide Exchange Factor 4	Protein Coding	1
411	BTN3A2	Butyrophilin Subfamily 3 Member A2	Protein Coding	1
412	BTN3A1	Butyrophilin Subfamily 3 Member A1	Protein Coding	1
413	BTN2A1	Butyrophilin Subfamily 2 Member A1	Protein Coding	1
414	CD160	CD160 Molecule	Protein Coding	1
415	KIF3A	Kinesin Family Member 3A	Protein Coding	1
416	DCTN3	Dynactin Subunit 3	Protein Coding	1
417	TUBA3E	Tubulin Alpha 3e	Protein Coding	1
418	CD300A	CD300a Molecule	Protein Coding	1
419	TUBA3D	Tubulin Alpha 3d	Protein Coding	1
420	SIGLEC11	Sialic Acid Binding Ig Like Lectin 11	Protein Coding	1
421	SLAMF6	SLAM Family Member 6	Protein Coding	1
422	OSBPL1A	Oxysterol Binding Protein Like 1A	Protein Coding	1
423	THEM4	Thioesterase Superfamily Member 4	Protein Coding	1
424	SH2D1B	SH2 Domain Containing 1B	Protein Coding	1
425	AP2M1	Adaptor Related Protein Complex 2 Subunit Mu 1	Protein Coding	1
426	AP1S1	Adaptor Related Protein Complex 1 Subunit Sigma 1	Protein Coding	1
427	AP2S1	Adaptor Related Protein Complex 2 Subunit Sigma 1	Protein Coding	1
428	PIK3AP1	Phosphoinositide-3-Kinase Adaptor Protein 1	Protein Coding	1
429	JAML	Junction Adhesion Molecule Like	Protein Coding	1
430	CLTA	Clathrin Light Chain A	Protein Coding	1
431	CLTC	Clathrin Heavy Chain	Protein Coding	1
432	CD300LB	CD300 Molecule Like Family Member B	Protein Coding	1
433	OSCAR	Osteoclast Associated Ig-Like Receptor	Protein Coding	1
434	COL1A1	Collagen Type I Alpha 1 Chain	Protein Coding	1
435	COL1A2	Collagen Type I Alpha 2 Chain	Protein Coding	1
436	COL2A1	Collagen Type II Alpha 1 Chain	Protein Coding	1
437	COL3A1	Collagen Type III Alpha 1 Chain	Protein Coding	1
438	AP1S3	Adaptor Related Protein Complex 1 Subunit Sigma 3	Protein Coding	1
439	COL17A1	Collagen Type XVII Alpha 1 Chain	Protein Coding	1
440	CD200R1	CD200 Receptor 1	Protein Coding	1
441	MAP3K8	Mitogen-Activated Protein Kinase Kinase Kinase 8	Protein Coding	1
442	RAET1E	Retinoic Acid Early Transcript 1E	Protein Coding	1
443	DYNLL2	Dynein Light Chain LC8-Type 2	Protein Coding	1
444	CSK	C-Terminal Src Kinase	Protein Coding	1
445	CD300LF	CD300 Molecule Like Family Member F	Protein Coding	1
446	PIK3R6	Phosphoinositide-3-Kinase Regulatory Subunit 6	Protein Coding	1
447	CD300LG	CD300 Molecule Like Family Member G	Protein Coding	1
448	KLC3	Kinesin Light Chain 3	Protein Coding	1
449	CTLA4	Cytotoxic T-Lymphocyte Associated Protein 4	Protein Coding	1
450	CTSB	Cathepsin B	Protein Coding	1
451	CTSD	Cathepsin D	Protein Coding	1
452	CTSE	Cathepsin E	Protein Coding	1
453	CTSH	Cathepsin H	Protein Coding	1
454	CTSK	Cathepsin K	Protein Coding	1
455	BTLA	B And T Lymphocyte Associated	Protein Coding	1
456	CTSO	Cathepsin O	Protein Coding	1
457	CXADR	CXADR Cell Adhesion Molecule	Protein Coding	1
458	BTNL9	Butyrophilin Like 9	Protein Coding	1
459	AP2A1	Adaptor Related Protein Complex 2 Subunit Alpha 1	Protein Coding	1
460	AP2A2	Adaptor Related Protein Complex 2 Subunit Alpha 2	Protein Coding	1
461	AP1B1	Adaptor Related Protein Complex 1 Subunit Beta 1	Protein Coding	1
462	AP2B1	Adaptor Related Protein Complex 2 Subunit Beta 1	Protein Coding	1
463	DCTN1	Dynactin Subunit 1	Protein Coding	1
464	AP1G1	Adaptor Related Protein Complex 1 Subunit Gamma 1	Protein Coding	1
465	DNM1	Dynamin 1	Protein Coding	1
466	DYNC1H1	Dynein Cytoplasmic 1 Heavy Chain 1	Protein Coding	1
467	DYNC1I1	Dynein Cytoplasmic 1 Intermediate Chain 1	Protein Coding	1
468	DYNC1I2	Dynein Cytoplasmic 1 Intermediate Chain 2	Protein Coding	1
469	DYNC1LI2	Dynein Cytoplasmic 1 Light Intermediate Chain 2	Protein Coding	1
470	DNM2	Dynamin 2	Protein Coding	1
471	PIANP	PILR Alpha Associated Neural Protein	Protein Coding	1
472	AKT1	AKT Serine/Threonine Kinase 1	Protein Coding	1
473	AKT2	AKT Serine/Threonine Kinase 2	Protein Coding	1
474	FCGR2B	Fc Gamma Receptor IIb	Protein Coding	1
475	FCGR3A	Fc Gamma Receptor IIIa	Protein Coding	1
476	FKBP1A	FKBP Prolyl Isomerase 1A	Protein Coding	1
477	KLRK1	Killer Cell Lectin Like Receptor K1	Protein Coding	1
478	KIFAP3	Kinesin Associated Protein 3	Protein Coding	1
479	RAP1GAP2	RAP1 GTPase Activating Protein 2	Protein Coding	1
480	TAB2	TGF-Beta Activated Kinase 1 (MAP3K7) Binding Protein 2	Protein Coding	1
481	ICOSLG	Inducible T Cell Costimulator Ligand	Protein Coding	1
482	PIK3R5	Phosphoinositide-3-Kinase Regulatory Subunit 5	Protein Coding	1
483	LILRA4	Leukocyte Immunoglobulin Like Receptor A4	Protein Coding	1
484	KIF4A	Kinesin Family Member 4A	Protein Coding	1
485	MTOR	Mechanistic Target Of Rapamycin Kinase	Protein Coding	1
486	RICTOR	RPTOR Independent Companion Of MTOR Complex 2	Protein Coding	1
487	FYB1	FYN Binding Protein 1	Protein Coding	1
488	FYN	FYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
489	RASGRP3	RAS Guanyl Releasing Protein 3	Protein Coding	1
490	NCR3	Natural Cytotoxicity Triggering Receptor 3	Protein Coding	1
491	TUBB8B	Tubulin Beta 8B	Protein Coding	1
492	DNM3	Dynamin 3	Protein Coding	1
493	KIF26A	Kinesin Family Member 26A	Protein Coding	1
494	PTPN22	Protein Tyrosine Phosphatase Non-Receptor Type 22	Protein Coding	1
495	SIGLEC7	Sialic Acid Binding Ig Like Lectin 7	Protein Coding	1
496	LAT	Linker For Activation Of T Cells	Protein Coding	1
497	DAPP1	Dual Adaptor Of Phosphotyrosine And 3-Phosphoinositides 1	Protein Coding	1
498	SIGLEC9	Sialic Acid Binding Ig Like Lectin 9	Protein Coding	1
499	SIGLEC8	Sialic Acid Binding Ig Like Lectin 8	Protein Coding	1
500	KIF4B	Kinesin Family Member 4B	Protein Coding	1
501	TREML4	Triggering Receptor Expressed On Myeloid Cells Like 4	Protein Coding	1
502	GRB2	Growth Factor Receptor Bound Protein 2	Protein Coding	1
503	CLEC2D	C-Type Lectin Domain Family 2 Member D	Protein Coding	1
504	CD274	CD274 Molecule	Protein Coding	1
505	RACGAP1	Rac GTPase Activating Protein 1	Protein Coding	1
506	BLNK	B Cell Linker	Protein Coding	1
507	ICOS	Inducible T Cell Costimulator	Protein Coding	1
508	PILRB	Paired Immunoglobin Like Type 2 Receptor Beta	Protein Coding	1
509	PILRA	Paired Immunoglobin Like Type 2 Receptor Alpha	Protein Coding	1
510	SH3KBP1	SH3 Domain Containing Kinase Binding Protein 1	Protein Coding	1
511	CD209	CD209 Molecule	Protein Coding	1
512	HLA-DMA	Major Histocompatibility Complex, Class II, DM Alpha	Protein Coding	1
513	HLA-DMB	Major Histocompatibility Complex, Class II, DM Beta	Protein Coding	1
514	HLA-DOA	Major Histocompatibility Complex, Class II, DO Alpha	Protein Coding	1
515	HLA-DOB	Major Histocompatibility Complex, Class II, DO Beta	Protein Coding	1
516	HLA-DPA1	Major Histocompatibility Complex, Class II, DP Alpha 1	Protein Coding	1
517	HLA-DPB1	Major Histocompatibility Complex, Class II, DP Beta 1	Protein Coding	1
518	HLA-DQA1	Major Histocompatibility Complex, Class II, DQ Alpha 1	Protein Coding	1
519	HLA-DQA2	Major Histocompatibility Complex, Class II, DQ Alpha 2	Protein Coding	1
520	HLA-DQB1	Major Histocompatibility Complex, Class II, DQ Beta 1	Protein Coding	1
521	HLA-DQB2	Major Histocompatibility Complex, Class II, DQ Beta 2	Protein Coding	1
522	HLA-DRA	Major Histocompatibility Complex, Class II, DR Alpha	Protein Coding	1
523	HLA-DRB1	Major Histocompatibility Complex, Class II, DR Beta 1	Protein Coding	1
524	HLA-DRB3	Major Histocompatibility Complex, Class II, DR Beta 3	Protein Coding	1
525	HLA-DRB4	Major Histocompatibility Complex, Class II, DR Beta 4	Protein Coding	1
526	HLA-DRB5	Major Histocompatibility Complex, Class II, DR Beta 5	Protein Coding	1
527	HRAS	HRas Proto-Oncogene, GTPase	Protein Coding	1
528	ICAM1	Intercellular Adhesion Molecule 1	Protein Coding	1
529	ICAM2	Intercellular Adhesion Molecule 2	Protein Coding	1
530	ICAM3	Intercellular Adhesion Molecule 3	Protein Coding	1
531	ICAM4	Intercellular Adhesion Molecule 4 (Landsteiner-Wiener Blood Group)	Protein Coding	1
532	CLEC4G	C-Type Lectin Domain Family 4 Member G	Protein Coding	1
533	TREML1	Triggering Receptor Expressed On Myeloid Cells Like 1	Protein Coding	1
534	CD300E	CD300e Molecule	Protein Coding	1
535	TUBB8	Tubulin Beta 8 Class VIII	Protein Coding	1
536	TUBB2B	Tubulin Beta 2B Class IIb	Protein Coding	1
537	LILRA5	Leukocyte Immunoglobulin Like Receptor A5	Protein Coding	1
538	INPP5D	Inositol Polyphosphate-5-Phosphatase D	Protein Coding	1
539	ITGA4	Integrin Subunit Alpha 4	Protein Coding	1
540	ITGAL	Integrin Subunit Alpha L	Protein Coding	1
541	ITGB1	Integrin Subunit Beta 1	Protein Coding	1
542	ITGB2	Integrin Subunit Beta 2	Protein Coding	1
543	ITGB7	Integrin Subunit Beta 7	Protein Coding	1
544	ITK	IL2 Inducible T Cell Kinase	Protein Coding	1
545	ITPR1	Inositol 1,4,5-Trisphosphate Receptor Type 1	Protein Coding	1
546	ITPR2	Inositol 1,4,5-Trisphosphate Receptor Type 2	Protein Coding	1
547	ITPR3	Inositol 1,4,5-Trisphosphate Receptor Type 3	Protein Coding	1
548	NCR3LG1	Natural Killer Cell Cytotoxicity Receptor 3 Ligand 1	Protein Coding	1
549	ARF1	ARF GTPase 1	Protein Coding	1
550	KIF2A	Kinesin Family Member 2A	Protein Coding	1
551	KIF3C	Kinesin Family Member 3C	Protein Coding	1
552	KIF5A	Kinesin Family Member 5A	Protein Coding	1
553	KIF5B	Kinesin Family Member 5B	Protein Coding	1
554	KIR2DL1	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 1	Protein Coding	1
555	KIR2DL2	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 2	Protein Coding	1
556	KIR2DL3	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 3	Protein Coding	1
557	KIR2DL4	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Long Cytoplasmic Tail 4	Protein Coding	1
558	KIR2DS1	Killer Cell Immunoglobulin Like Receptor, Two Ig Domains And Short Cytoplasmic Tail 1	Protein Coding	1
559	KIR3DL1	Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 1	Protein Coding	1
560	KIR3DL2	Killer Cell Immunoglobulin Like Receptor, Three Ig Domains And Long Cytoplasmic Tail 2	Protein Coding	1
561	KLRB1	Killer Cell Lectin Like Receptor B1	Protein Coding	1
562	KLRC1	Killer Cell Lectin Like Receptor C1	Protein Coding	1
563	KLRD1	Killer Cell Lectin Like Receptor D1	Protein Coding	1
564	KLC1	Kinesin Light Chain 1	Protein Coding	1
565	KIF11	Kinesin Family Member 11	Protein Coding	1
566	KIF22	Kinesin Family Member 22	Protein Coding	1
567	KRAS	KRAS Proto-Oncogene, GTPase	Protein Coding	1
568	LAG3	Lymphocyte Activating 3	Protein Coding	1
569	LAIR1	Leukocyte Associated Immunoglobulin Like Receptor 1	Protein Coding	1
570	LAIR2	Leukocyte Associated Immunoglobulin Like Receptor 2	Protein Coding	1
571	LCK	LCK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
572	LCP2	Lymphocyte Cytosolic Protein 2	Protein Coding	1
573	LYN	LYN Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
574	SH2D1A	SH2 Domain Containing 1A	Protein Coding	1
575	CD99	CD99 Molecule (Xg Blood Group)	Protein Coding	1
576	MICB	MHC Class I Polypeptide-Related Sequence B	Protein Coding	1
577	CD200	CD200 Molecule	Protein Coding	1
578	NCK1	NCK Adaptor Protein 1	Protein Coding	1
579	NFATC1	Nuclear Factor Of Activated T Cells 1	Protein Coding	1
580	NFATC2	Nuclear Factor Of Activated T Cells 2	Protein Coding	1
581	NFATC3	Nuclear Factor Of Activated T Cells 3	Protein Coding	1
582	NFKB1	Nuclear Factor Kappa B Subunit 1	Protein Coding	1
583	NFKBIA	NFKB Inhibitor Alpha	Protein Coding	1
584	NFKBIB	NFKB Inhibitor Beta	Protein Coding	1
585	NFKBIE	NFKB Inhibitor Epsilon	Protein Coding	1
586	NRAS	NRAS Proto-Oncogene, GTPase	Protein Coding	1
587	PAK1	P21 (RAC1) Activated Kinase 1	Protein Coding	1
588	PAK2	P21 (RAC1) Activated Kinase 2	Protein Coding	1
589	PAK3	P21 (RAC1) Activated Kinase 3	Protein Coding	1
590	TRAT1	T Cell Receptor Associated Transmembrane Adaptor 1	Protein Coding	1
591	DYNC1LI1	Dynein Cytoplasmic 1 Light Intermediate Chain 1	Protein Coding	1
592	DCTN4	Dynactin Subunit 4	Protein Coding	1
593	PDCD1	Programmed Cell Death 1	Protein Coding	1
594	KLRF1	Killer Cell Lectin Like Receptor F1	Protein Coding	1
595	EVL	Enah/Vasp-Like	Protein Coding	1
596	PDPK1	3-Phosphoinositide Dependent Protein Kinase 1	Protein Coding	1
597	TUBA8	Tubulin Alpha 8	Protein Coding	1
598	PIK3CA	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Alpha	Protein Coding	1
599	PIK3CB	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Beta	Protein Coding	1
600	PIK3CD	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Delta	Protein Coding	1
601	PIK3CG	Phosphatidylinositol-4,5-Bisphosphate 3-Kinase Catalytic Subunit Gamma	Protein Coding	1
602	PIK3R1	Phosphoinositide-3-Kinase Regulatory Subunit 1	Protein Coding	1
603	PIK3R2	Phosphoinositide-3-Kinase Regulatory Subunit 2	Protein Coding	1
604	PLCG1	Phospholipase C Gamma 1	Protein Coding	1
605	PLCG2	Phospholipase C Gamma 2	Protein Coding	1
606	TREM2	Triggering Receptor Expressed On Myeloid Cells 2	Protein Coding	1
607	TREM1	Triggering Receptor Expressed On Myeloid Cells 1	Protein Coding	1
608	CTSA	Cathepsin A	Protein Coding	1
609	PPIA	Peptidylprolyl Isomerase A	Protein Coding	1
610	PPL	Periplakin	Protein Coding	1
611	PPP2CA	Protein Phosphatase 2 Catalytic Subunit Alpha	Protein Coding	1
612	PPP2CB	Protein Phosphatase 2 Catalytic Subunit Beta	Protein Coding	1
613	PPP2R1A	Protein Phosphatase 2 Scaffold Subunit Aalpha	Protein Coding	1
614	PPP2R1B	Protein Phosphatase 2 Scaffold Subunit Abeta	Protein Coding	1
615	PPP2R5A	Protein Phosphatase 2 Regulatory Subunit B''Alpha	Protein Coding	1
616	PPP2R5B	Protein Phosphatase 2 Regulatory Subunit B''Beta	Protein Coding	1
617	PPP2R5C	Protein Phosphatase 2 Regulatory Subunit B''Gamma	Protein Coding	1
618	PPP2R5D	Protein Phosphatase 2 Regulatory Subunit B''Delta	Protein Coding	1
619	PPP2R5E	Protein Phosphatase 2 Regulatory Subunit B''Epsilon	Protein Coding	1
620	PPP3CA	Protein Phosphatase 3 Catalytic Subunit Alpha	Protein Coding	1
621	PPP3CB	Protein Phosphatase 3 Catalytic Subunit Beta	Protein Coding	1
622	PPP3R1	Protein Phosphatase 3 Regulatory Subunit B, Alpha	Protein Coding	1
623	PRR5	Proline Rich 5	Protein Coding	1
624	PRKACA	Protein Kinase CAMP-Activated Catalytic Subunit Alpha	Protein Coding	1
625	PRKACB	Protein Kinase CAMP-Activated Catalytic Subunit Beta	Protein Coding	1
626	PRKACG	Protein Kinase CAMP-Activated Catalytic Subunit Gamma	Protein Coding	1
627	ENAH	ENAH Actin Regulator	Protein Coding	1
628	PRKCB	Protein Kinase C Beta	Protein Coding	1
629	PAG1	Phosphoprotein Membrane Anchor With Glycosphingolipid Microdomains 1	Protein Coding	1
630	ACTR10	Actin Related Protein 10	Protein Coding	1
631	PRKG1	Protein Kinase CGMP-Dependent 1	Protein Coding	1
632	BTNL2	Butyrophilin Like 2	Protein Coding	1
633	CRTAM	Cytotoxic And Regulatory T Cell Molecule	Protein Coding	1
634	LGMN	Legumain	Protein Coding	1
635	NPDC1	Neural Proliferation, Differentiation And Control 1	Protein Coding	1
636	KIF15	Kinesin Family Member 15	Protein Coding	1
637	PTEN	Phosphatase And Tensin Homolog	Protein Coding	1
638	TRIB3	Tribbles Pseudokinase 3	Protein Coding	1
639	PTPN6	Protein Tyrosine Phosphatase Non-Receptor Type 6	Protein Coding	1
640	PTPN11	Protein Tyrosine Phosphatase Non-Receptor Type 11	Protein Coding	1
641	SLAMF7	SLAM Family Member 7	Protein Coding	1
642	PTPRC	Protein Tyrosine Phosphatase Receptor Type C	Protein Coding	1
643	PTPRJ	Protein Tyrosine Phosphatase Receptor Type J	Protein Coding	1
644	PVR	PVR Cell Adhesion Molecule	Protein Coding	1
645	NECTIN2	Nectin Cell Adhesion Molecule 2	Protein Coding	1
646	RAC1	Rac Family Small GTPase 1	Protein Coding	1
647	RAF1	Raf-1 Proto-Oncogene, Serine/Threonine Kinase	Protein Coding	1
648	RAP1A	RAP1A, Member Of RAS Oncogene Family	Protein Coding	1
649	RAP1B	RAP1B, Member Of RAS Oncogene Family	Protein Coding	1
650	RAP1GAP	RAP1 GTPase Activating Protein	Protein Coding	1
651	REL	REL Proto-Oncogene, NF-KB Subunit	Protein Coding	1
652	RELA	RELA Proto-Oncogene, NF-KB Subunit	Protein Coding	1
653	BLK	BLK Proto-Oncogene, Src Family Tyrosine Kinase	Protein Coding	1
654	SELL	Selectin L	Protein Coding	1
655	MLST8	MTOR Associated Protein MLST8	Protein Coding	1
656	SFTPD	Surfactant Protein D	Protein Coding	1
657	SH3GL2	SH3 Domain Containing GRB2 Like 2, Endophilin A1	Protein Coding	1
658	KLC2	Kinesin Light Chain 2	Protein Coding	1
659	SIPA1	Signal-Induced Proliferation-Associated 1	Protein Coding	1
660	SIGLEC1	Sialic Acid Binding Ig Like Lectin 1	Protein Coding	1
661	SOS1	SOS Ras/Rac Guanine Nucleotide Exchange Factor 1	Protein Coding	1
662	SPTBN2	Spectrin Beta, Non-Erythrocytic 2	Protein Coding	1
663	SRC	SRC Proto-Oncogene, Non-Receptor Tyrosine Kinase	Protein Coding	1
664	STIM1	Stromal Interaction Molecule 1	Protein Coding	1
665	SYK	Spleen Associated Tyrosine Kinase	Protein Coding	1
666	MAP3K7	Mitogen-Activated Protein Kinase Kinase Kinase 7	Protein Coding	1
667	BTN1A1	Butyrophilin Subfamily 1 Member A1	Protein Coding	1
668	ICAM5	Intercellular Adhesion Molecule 5	Protein Coding	1
669	C3	Complement C3	Protein Coding	1
670	TRAF6	TNF Receptor Associated Factor 6	Protein Coding	1
671	TRPC1	Transient Receptor Potential Cation Channel Subfamily C Member 1	Protein Coding	1
672	TUBA4A	Tubulin Alpha 4a	Protein Coding	1
673	TUBA3C	Tubulin Alpha 3c	Protein Coding	1
674	TUBB2A	Tubulin Beta 2A Class IIa	Protein Coding	1
675	TYROBP	Transmembrane Immune Signaling Adaptor TYROBP	Protein Coding	1
676	VASP	Vasodilator Stimulated Phosphoprotein	Protein Coding	1
677	VAV1	Vav Guanine Nucleotide Exchange Factor 1	Protein Coding	1
678	VCAM1	Vascular Cell Adhesion Molecule 1	Protein Coding	1
679	WAS	WASP Actin Nucleation Promoting Factor	Protein Coding	1
680	XDH	Xanthine Dehydrogenase	Protein Coding	1
681	YES1	YES Proto-Oncogene 1, Src Family Tyrosine Kinase	Protein Coding	1
682	YWHAB	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Beta	Protein Coding	1
683	YWHAZ	Tyrosine 3-Monooxygenase/Tryptophan 5-Monooxygenase Activation Protein Zeta	Protein Coding	1
684	ZAP70	Zeta Chain Of T Cell Receptor Associated Protein Kinase 70	Protein Coding	1
685	TUBA1A	Tubulin Alpha 1a	Protein Coding	1
686	RAB7A	RAB7A, Member RAS Oncogene Family	Protein Coding	1
687	MAPKAP1	MAPK Associated Protein 1	Protein Coding	1
688	LILRA6	Leukocyte Immunoglobulin Like Receptor A6	Protein Coding	1
689	ULBP3	UL16 Binding Protein 3	Protein Coding	1
690	TUBAL3	Tubulin Alpha Like 3	Protein Coding	1
691	TREML2	Triggering Receptor Expressed On Myeloid Cells Like 2	Protein Coding	1
692	BTNL8	Butyrophilin Like 8	Protein Coding	1
693	TUBA4B	Tubulin Alpha 4b	Protein Coding	1
694	CALM1	Calmodulin 1	Protein Coding	1
695	ORAI2	ORAI Calcium Release-Activated Calcium Modulator 2	Protein Coding	1
696	ULBP1	UL16 Binding Protein 1	Protein Coding	1
697	PDCD1LG2	Programmed Cell Death 1 Ligand 2	Protein Coding	1
698	CALM2	Calmodulin 2	Protein Coding	1
699	CALM3	Calmodulin 3	Protein Coding	1
700	TUBB1	Tubulin Beta 1 Class VI	Protein Coding	1
701	COLEC12	Collectin Subfamily Member 12	Protein Coding	1
702	MADCAM1	Mucosal Vascular Addressin Cell Adhesion Molecule 1	Protein Coding	1
703	KIF18A	Kinesin Family Member 18A	Protein Coding	1
704	CAPZA1	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 1	Protein Coding	1
705	CAPZA2	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 2	Protein Coding	1
706	CAPZB	Capping Actin Protein Of Muscle Z-Line Subunit Beta	Protein Coding	1
707	RILP	Rab Interacting Lysosomal Protein	Protein Coding	1
708	DCTN5	Dynactin Subunit 5	Protein Coding	1
709	TUBB6	Tubulin Beta 6 Class V	Protein Coding	1
710	KIF2B	Kinesin Family Member 2B	Protein Coding	1
711	TUBA1C	Tubulin Alpha 1c	Protein Coding	1
712	ORAI1	ORAI Calcium Release-Activated Calcium Modulator 1	Protein Coding	1
713	PIK3R3	Phosphoinositide-3-Kinase Regulatory Subunit 3	Protein Coding	1
714	IFITM1	Interferon Induced Transmembrane Protein 1	Protein Coding	1
715	DYNLL1	Dynein Light Chain LC8-Type 1	Protein Coding	1
716	CTSF	Cathepsin F	Protein Coding	1
717	TNFRSF14	TNF Receptor Superfamily Member 14	Protein Coding	1
718	RIPK2	Receptor Interacting Serine/Threonine Kinase 2	Protein Coding	1
719	SIGLEC5	Sialic Acid Binding Ig Like Lectin 5	Protein Coding	1
720	AP1S2	Adaptor Related Protein Complex 1 Subunit Sigma 2	Protein Coding	1
721	AP1M1	Adaptor Related Protein Complex 1 Subunit Mu 1	Protein Coding	1
722	SIGLEC10	Sialic Acid Binding Ig Like Lectin 10	Protein Coding	1
723	SIGLEC12	Sialic Acid Binding Ig Like Lectin 12	Protein Coding	1
724	KLC4	Kinesin Light Chain 4	Protein Coding	1
725	MAP3K14	Mitogen-Activated Protein Kinase Kinase Kinase 14	Protein Coding	1
726	CD1A	CD1a Molecule	Protein Coding	1
727	CD1B	CD1b Molecule	Protein Coding	1
728	CD1C	CD1c Molecule	Protein Coding	1
729	CD1D	CD1d Molecule	Protein Coding	1
730	CD3D	CD3 Delta Subunit Of T-Cell Receptor Complex	Protein Coding	1
731	CD3E	CD3 Epsilon Subunit Of T-Cell Receptor Complex	Protein Coding	1
732	CD3G	CD3 Gamma Subunit Of T-Cell Receptor Complex	Protein Coding	1
733	CD247	CD247 Molecule	Protein Coding	1
734	CD4	CD4 Molecule	Protein Coding	1
735	CD8A	CD8 Subunit Alpha	Protein Coding	1
736	CD8B	CD8 Subunit Beta	Protein Coding	1
737	CD19	CD19 Molecule	Protein Coding	1
738	CD22	CD22 Molecule	Protein Coding	1
739	CAPZA3	Capping Actin Protein Of Muscle Z-Line Subunit Alpha 3	Protein Coding	1
740	KIF3B	Kinesin Family Member 3B	Protein Coding	1
741	CD101	CD101 Molecule	Protein Coding	1
742	CD28	CD28 Molecule	Protein Coding	1
743	GRAP2	GRB2 Related Adaptor Protein 2	Protein Coding	1
744	CD80	CD80 Molecule	Protein Coding	1
745	CD86	CD86 Molecule	Protein Coding	1
746	NCR2	Natural Cytotoxicity Triggering Receptor 2	Protein Coding	1
747	NCR1	Natural Cytotoxicity Triggering Receptor 1	Protein Coding	1
748	CD33	CD33 Molecule	Protein Coding	1
749	SIGLEC6	Sialic Acid Binding Ig Like Lectin 6	Protein Coding	1
750	CD34	CD34 Molecule	Protein Coding	1
751	KIF23	Kinesin Family Member 23	Protein Coding	1
752	CD40	CD40 Molecule	Protein Coding	1
753	CD40LG	CD40 Ligand	Protein Coding	1
754	CD74	CD74 Molecule	Protein Coding	1
755	CD79A	CD79a Molecule	Protein Coding	1
756	CD79B	CD79b Molecule	Protein Coding	1
757	CD81	CD81 Molecule	Protein Coding	1
758	CLEC2B	C-Type Lectin Domain Family 2 Member B	Protein Coding	1
759	CDC42	Cell Division Cycle 42	Protein Coding	1
760	DPP3	Dipeptidyl Peptidase 3	Protein Coding	1
761	FEM1B	Fem-1 Homolog B	Protein Coding	1
762	DCAF7	DDB1 And CUL4 Associated Factor 7	Protein Coding	1
763	CDKN1A	Cyclin Dependent Kinase Inhibitor 1A	Protein Coding	1
764	UBD	Ubiquitin Like Modifier D	Protein Coding	1
765	COPS8	COP9 Signalosome Subunit 8	Protein Coding	1
766	COPS6	COP9 Signalosome Subunit 6	Protein Coding	1
767	COPS5	COP9 Signalosome Subunit 5	Protein Coding	1
768	WDR5	WD Repeat Domain 5	Protein Coding	1
769	CISH	Cytokine Inducible SH2 Containing Protein	Protein Coding	1
770	ERCC8	ERCC Excision Repair 8, CSA Ubiquitin Ligase Complex Subunit	Protein Coding	1
771	ANKRD9	Ankyrin Repeat Domain 9	Protein Coding	1
772	SENP8	SUMO Peptidase Family Member, NEDD8 Specific	Protein Coding	1
773	DCUN1D3	Defective In Cullin Neddylation 1 Domain Containing 3	Protein Coding	1
774	AMER1	APC Membrane Recruitment Protein 1	Protein Coding	1
775	NEURL2	Neuralized E3 Ubiquitin Protein Ligase 2	Protein Coding	1
776	COMMD7	COMM Domain Containing 7	Protein Coding	1
777	COMMD1	Copper Metabolism Domain Containing 1	Protein Coding	1
778	DDB1	Damage Specific DNA Binding Protein 1	Protein Coding	1
779	DDB2	Damage Specific DNA Binding Protein 2	Protein Coding	1
780	COMMD6	COMM Domain Containing 6	Protein Coding	1
781	EPAS1	Endothelial PAS Domain Protein 1	Protein Coding	1
782	WDTC1	WD And Tetratricopeptide Repeats 1	Protein Coding	1
783	CUL9	Cullin 9	Protein Coding	1
784	DCUN1D4	Defective In Cullin Neddylation 1 Domain Containing 4	Protein Coding	1
785	OBSL1	Obscurin Like Cytoskeletal Adaptor 1	Protein Coding	1
786	PUM2	Pumilio RNA Binding Family Member 2	Protein Coding	1
787	COMMD3	COMM Domain Containing 3	Protein Coding	1
788	DCAF13	DDB1 And CUL4 Associated Factor 13	Protein Coding	1
789	UBXN7	UBX Domain Protein 7	Protein Coding	1
790	DCAF4	DDB1 And CUL4 Associated Factor 4	Protein Coding	1
791	GPS1	G Protein Pathway Suppressor 1	Protein Coding	1
792	CCDC22	CCC Complex Scaffolding Subunit CCDC22	Protein Coding	1
793	COMMD5	COMM Domain Containing 5	Protein Coding	1
794	COMMD9	COMM Domain Containing 9	Protein Coding	1
795	HIF1A	Hypoxia Inducible Factor 1 Subunit Alpha	Protein Coding	1
796	BIRC5	Baculoviral IAP Repeat Containing 5	Protein Coding	1
797	NEDD8	NEDD8 Ubiquitin Like Modifier	Protein Coding	1
798	NFE2L2	NFE2 Like BZIP Transcription Factor 2	Protein Coding	1
799	DCAF8	DDB1 And CUL4 Associated Factor 8	Protein Coding	1
800	COPS7A	COP9 Signalosome Subunit 7A	Protein Coding	1
801	COMMD2	COMM Domain Containing 2	Protein Coding	1
802	COPS4	COP9 Signalosome Subunit 4	Protein Coding	1
803	COMMD10	COMM Domain Containing 10	Protein Coding	1
804	DTL	Denticleless E3 Ubiquitin Protein Ligase Adapter	Protein Coding	1
805	NUB1	Negative Regulator Of Ubiquitin Like Proteins 1	Protein Coding	1
806	DCUN1D1	Defective In Cullin Neddylation 1 Domain Containing 1	Protein Coding	1
807	DCAF16	DDB1 And CUL4 Associated Factor 16	Protein Coding	1
808	COMMD4	COMM Domain Containing 4	Protein Coding	1
809	COMMD8	COMM Domain Containing 8	Protein Coding	1
810	DCUN1D2	Defective In Cullin Neddylation 1 Domain Containing 2	Protein Coding	1
811	FEM1A	Fem-1 Homolog A	Protein Coding	1
812	NPLOC4	NPL4 Homolog, Ubiquitin Recognition Factor	Protein Coding	1
813	DCAF6	DDB1 And CUL4 Associated Factor 6	Protein Coding	1
814	CAND1	Cullin Associated And Neddylation Dissociated 1	Protein Coding	1
815	WSB2	WD Repeat And SOCS Box Containing 2	Protein Coding	1
816	FEM1C	Fem-1 Homolog C	Protein Coding	1
817	TULP4	TUB Like Protein 4	Protein Coding	1
818	RBBP5	RB Binding Protein 5, Histone Lysine Methyltransferase Complex Subunit	Protein Coding	1
819	RBBP7	RB Binding Protein 7, Chromatin Remodeling Factor	Protein Coding	1
820	COP1	COP1 E3 Ubiquitin Ligase	Protein Coding	1
821	HIF3A	Hypoxia Inducible Factor 3 Subunit Alpha	Protein Coding	1
822	COPS7B	COP9 Signalosome Subunit 7B	Protein Coding	1
823	BRCA1	BRCA1 DNA Repair Associated	Protein Coding	1
824	UCHL3	Ubiquitin C-Terminal Hydrolase L3	Protein Coding	1
825	UFD1	Ubiquitin Recognition Factor In ER Associated Degradation 1	Protein Coding	1
826	VCP	Valosin Containing Protein	Protein Coding	1
827	DDA1	DET1 And DDB1 Associated 1	Protein Coding	1
828	DCAF10	DDB1 And CUL4 Associated Factor 10	Protein Coding	1
829	MUL1	Mitochondrial E3 Ubiquitin Protein Ligase 1	Protein Coding	1
830	PALB2	Partner And Localizer Of BRCA2	Protein Coding	1
831	DCAF17	DDB1 And CUL4 Associated Factor 17	Protein Coding	1
832	DCAF11	DDB1 And CUL4 Associated Factor 11	Protein Coding	1
833	CCDC8	Coiled-Coil Domain Containing 8 Subunit Of 3M Complex	Protein Coding	1
834	DCUN1D5	Defective In Cullin Neddylation 1 Domain Containing 5	Protein Coding	1
835	CUL4B	Cullin 4B	Protein Coding	1
836	CUL4A	Cullin 4A	Protein Coding	1
837	COPS3	COP9 Signalosome Subunit 3	Protein Coding	1
838	DCAF5	DDB1 And CUL4 Associated Factor 5	Protein Coding	1
839	SOCS2	Suppressor Of Cytokine Signaling 2	Protein Coding	1
840	SQSTM1	Sequestosome 1	Protein Coding	1
841	NAE1	NEDD8 Activating Enzyme E1 Subunit 1	Protein Coding	1
842	SPSB3	SplA/Ryanodine Receptor Domain And SOCS Box Containing 3	Protein Coding	1
843	SOCS6	Suppressor Of Cytokine Signaling 6	Protein Coding	1
844	COPS2	COP9 Signalosome Subunit 2	Protein Coding	1
845	SOCS5	Suppressor Of Cytokine Signaling 5	Protein Coding	1

Disorders associated with Class I MHC mediated antigen processing and presentation SuperPath

according to GeneCards Suite gene sharing

#	Disorder	Type	Genes	Score
1	Noonan syndrome 3	Enrichment	CLTC, HRAS, KRAS, PTPN11, RAF1, SOS1	6.70
2	Immunodeficiency by defective expression of mhc class i	Enrichment	B2M, TAP1, TAP2, TAPBP	6.25
3	Chronic granulomatous disease	Enrichment	CYBA, CYBB, NCF1, NCF2, NCF4	5.75
4	Three m syndrome 1	Enrichment	CCDC8, CUL7, OBSL1	5.30
5	Dysfibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	4.69
6	Familial dysfibrinogenemia	Enrichment	FGA, FGB, FGG	4.69
7	Familial hypofibrinogenemia	Enrichment	FGA, FGB, FGG	4.69
8	Hemimegalencephaly	Enrichment	AKT3, MTOR, PIK3CA, PTEN	4.33
9	Afibrinogenemia, congenital	Enrichment	FGA, FGB, FGG	4.09
10	Noonan syndrome and noonan-related syndrome	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	4.01
11	Autosomal non-syndromic agammaglobulinemia	Enrichment	BLNK, CD79A, CD79B, PIK3CD, PIK3R1	3.97
12	Granulomatosis with polyangiitis	Enrichment	CTLA4, HLA-DPA1, HLA-DPB1, PTPN22	3.88
13	Tubulinopathy-associated dysgyria	Enrichment	TUBA1A, TUBB2B, TUBB3	3.76
14	T-b+ severe combined immunodeficiency due to cd3delta/cd3epsilon/cd3zeta	Enrichment	CD247, CD3D, CD3E	3.76
15	Isolated split hand-split foot malformation	Enrichment	BTRC, FBXW4, SEM1	3.58
16	Spastic paraplegia-paget disease of bone syndrome	Enrichment	SQSTM1, VCP	3.53
17	Nevus, epidermal	Enrichment	HRAS, KRAS, NRAS, PIK3CA	3.53
18	Severe combined immunodeficiency	Enrichment	CD247, CD3D, CD3E, CD3G, IKBKB, LCK, PTPRC, ZAP70	3.43
19	Schimmelpenning-feuerstein-mims syndrome	Enrichment	HRAS, KRAS, NRAS	3.17
20	Temporal arteritis	Enrichment	HLA-B, HLA-DRB1, PTPN22	3.17
21	Megalencephaly-capillary malformation-polymicrogyria syndrome	Enrichment	AKT3, PIK3CA, PIK3R2	3.17
22	Tubulinopathy	Enrichment	TUBA1A, TUBB2A, TUBB2B	3.17
23	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia	Enrichment	CDC42, PTPN11, YWHAZ	3.17
24	Severe cutaneous adverse reaction	Enrichment	HLA-A, HLA-B	3.12
25	Proteasome-associated autoinflammatory syndrome 3	Enrichment	PSMB4, PSMB9	3.12
26	Pseudohypoaldosteronism, type iia	Enrichment	CUL3, KLHL3	3.06
27	Systemic lupus erythematosus	Enrichment	BLK, CTLA4, FCGR2B, HLA-DRB1, PDCD1, PTPN22, SOCS1, UBE2L3	2.92
28	Noonan syndrome 1	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	2.87
29	Proteasome-associated autoinflammatory syndrome 1	Enrichment	PSMB4, PSMB8	2.65
30	Granulomatous disease, chronic, autosomal recessive, 2	Enrichment	NCF1, NCF2	2.65
31	Proteosome-associated autoinflammatory syndrome	Enrichment	PSMB4, PSMB8	2.65
32	Lung non-small cell carcinoma	Enrichment	HRAS, KRAS, NRAS, PIK3CA	2.63
33	Rasopathy	Enrichment	HRAS, KRAS, NRAS, PTPN11, RAF1, SOS1	2.58
34	Osteogenesis imperfecta, type i	Enrichment	COL1A1, COL1A2, SEC24D	2.51
35	Congenital fibrosis of the extraocular muscles	Enrichment	TUBA1A, TUBB2B, TUBB3	2.51
36	Breast adenocarcinoma	Enrichment	AKT1, KRAS, PIK3CA	2.51
37	Anemia, congenital dyserythropoietic, type iiia	Enrichment	KIF23, RACGAP1	2.50
38	Celiac disease 1	Enrichment	HLA-DQA1, HLA-DQB1	2.50
39	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1	Enrichment	TREM2, TYROBP	2.50
40	Stormorken syndrome	Enrichment	ORAI1, STIM1	2.50
41	Ras-associated autoimmune leukoproliferative disorder	Enrichment	KRAS, NRAS	2.50
42	Sarcoidosis 1	Enrichment	BTNL2, HLA-DRB1	2.50
43	Ehlers-danlos syndrome, arthrochalasia type, 2	Enrichment	COL1A1, COL1A2	2.50
44	Autoinflammatory disease, familial, behcet-like 3	Enrichment	RELA, SIPA1	2.50
45	Lymphoproliferative syndrome	Enrichment	ITK, SH2D1A	2.50
46	Ectodermal dysplasia and immune deficiency	Enrichment	IKBKG, NFKBIA	2.50
47	Bullous pemphigoid	Enrichment	HLA-DQB1, HLA-DRB1	2.50
48	Immune system disease	Enrichment	CDC42, PIK3CD	2.50
49	Ehlers-danlos/osteogenesis imperfecta syndrome	Enrichment	COL1A1, COL1A2	2.50
50	Common variable immunodeficiency phenotype due to cd19/cd81 deficiency	Enrichment	CD19, CD81	2.50
51	Pediatric multiple sclerosis	Enrichment	HLA-DQB1, HLA-DRB1	2.50
52	Diffuse large b-cell lymphoma	Enrichment	BTK, CD79B, MYD88, PTEN, SOCS1	2.49
53	Meningioma	Enrichment	AKT1, PIK3CA, PTEN, TRAF7	2.47
54	Sporadic pheochromocytoma/secreting paraganglioma	Enrichment	EPAS1, VHL	2.38
55	Granulomatous disease, chronic, x-linked	Enrichment	CYBB, NCF1	2.36
56	Mhc class i deficiency 1	Enrichment	TAP1, TAP2	2.36
57	Mhc class i deficiency	Enrichment	TAP1, TAP2	2.36
58	Thyroid cancer, nonmedullary, 2	Enrichment	HRAS, NRAS, PTEN	2.29
59	Follicular thyroid carcinoma	Enrichment	HRAS, NRAS, PTEN	2.29
60	Lissencephaly	Enrichment	DYNC1H1, TUBA1A, TUBA3E, TUBB2B, TUBB3	2.28
61	Complex neurodevelopmental disorder	Enrichment	CUL3, FBXO11, FBXW11, HUWE1, PSMD12, RLIM, SIAH1, TRIP12	2.24
62	Multiple enchondromatosis, maffucci type	Enrichment	HIF1A, VHL	2.23
63	Childhood-onset nemaline myopathy	Enrichment	KBTBD13, KLHL41	2.23
64	Multiple sclerosis	Enrichment	HLA-DQB1, HLA-DRB1, ITPR1, RNF217	2.21
65	Amyloidosis, hereditary systemic 2	Enrichment	B2M, FGA	2.15
66	Malaria	Enrichment	CD36, FCGR2B, ICAM1, IKBKG, TIRAP	2.11
67	Melanocytic nevus syndrome, congenital	Enrichment	HRAS, NRAS, RAF1	2.10
68	Narcolepsy 1	Enrichment	CTSH, HLA-DQB1, HLA-DRB1	2.10
69	Catecholaminergic polymorphic ventricular tachycardia	Enrichment	CALM1, CALM2, CALM3	2.10
70	Mycosis fungoides	Enrichment	CD28, CTLA4	2.04
71	Mednik syndrome	Enrichment	AP1B1, AP1S1	2.04
72	Congenital lipomatous overgrowth, vascular malformations, and epidermal nevi	Enrichment	PIK3CA, PIK3R1	2.04
73	Immunodeficiency 14a with lymphoproliferation, autosomal dominant	Enrichment	PIK3CD, PIK3R1	2.04
74	Large congenital melanocytic nevus	Enrichment	HRAS, NRAS	2.04
75	Immunodeficiency 14	Enrichment	PIK3CD, PIK3R1	2.04
76	High bone mass osteogenesis imperfecta	Enrichment	COL1A1, COL1A2	2.04
77	Adult-onset myasthenia gravis	Enrichment	CTLA4, HLA-DQA1	2.04
78	Vogt-koyanagi-harada disease	Enrichment	HLA-DRB1, PTPN22	2.04
79	Saczary syndrome	Enrichment	CD28, CTLA4	2.04
80	Behavioral variant of frontotemporal dementia	Enrichment	SQSTM1, VCP	2.01
81	Cowden syndrome	Enrichment	AKT1, PIK3CA, PTEN	1.94
82	Frontotemporal dementia and/or amyotrophic lateral sclerosis 1	Enrichment	SQSTM1, VCP	1.92
83	Behcet syndrome	Enrichment	ERAP1, HLA-B, TLR4	1.84
84	Uterine corpus cancer	Enrichment	BRCA1, PALB2	1.84
85	Polymicrogyria	Enrichment	AKT3, DYNC1H1, PSMC3	1.81
86	Primary bone dysplasia	Enrichment	COL1A1, COL1A2, CTSK	1.81
87	Colorectal cancer	Enrichment	AMER1, BRCA1, FBXW7, NFE2L2, PALB2	1.77
88	Palmoplantar keratoderma, punctate type ii	Enrichment	BRCA1	1.77
89	Paget disease of bone 3	Enrichment	SQSTM1	1.77
90	Spermatogenic failure, x-linked, 9	Enrichment	RBBP7	1.77
91	Glaucoma 1, open angle, f	Enrichment	ASB10	1.77
92	Giant axonal neuropathy 2, autosomal dominant	Enrichment	DCAF8	1.77
93	Nemaline myopathy 6	Enrichment	KBTBD13	1.77
94	Inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1	Enrichment	VCP	1.77
95	Dermatitis, atopic, 4	Enrichment	SOCS3	1.77
96	Skeletal defects, genital hypoplasia, and impaired intellectual development	Enrichment	ZBTB16	1.77
97	Three m syndrome 3	Enrichment	CCDC8	1.77
98	Pseudohypoaldosteronism, type iie	Enrichment	CUL3	1.77
99	Pseudohypoaldosteronism, type iid	Enrichment	KLHL3	1.77
100	Spastic cerebral palsy	Enrichment	FBXO31	1.77
101	Myopathy, distal, with rimmed vacuoles	Enrichment	SQSTM1	1.77
102	Neurodevelopmental disorder with microcephaly, hypotonia, and absent language	Enrichment	PSMB1	1.77
103	White-kernohan syndrome	Enrichment	DDB1	1.77
104	Frontotemporal dementia and/or amyotrophic lateral sclerosis 3	Enrichment	SQSTM1	1.77
105	Neurodevelopmental, jaw, eye, and digital syndrome	Enrichment	FBXW11	1.77
106	Frontotemporal dementia and/or amyotrophic lateral sclerosis 5	Enrichment	CCNF	1.77
107	Stankiewicz-isidor syndrome	Enrichment	PSMD12	1.77
108	Immunodeficiency, developmental delay, and hypohomocysteinemia	Enrichment	NFE2L2	1.77
109	Ritscher-schinzel syndrome 2	Enrichment	CCDC22	1.77
110	Infant-type hemispheric glioma	Enrichment	BRCA1	1.77
111	Giant axonal neuropathy 2	Enrichment	DCAF8	1.77
112	Deafness, cataract, impaired intellectual development, and polyneuropathy	Enrichment	PSMC3	1.77
113	Intellectual developmental disorder, autosomal recessive 45	Enrichment	FBXO31	1.77
114	Three m syndrome 2	Enrichment	OBSL1	1.77
115	Intellectual developmental disorder with short stature, facial anomalies, and speech defects	Enrichment	FBXL3	1.77
116	Erythrocytosis, familial, 4	Enrichment	EPAS1	1.77
117	Mitochondrial dna depletion syndrome 13	Enrichment	FBXL4	1.77
118	Nemaline myopathy 9	Enrichment	KLHL41	1.77
119	Neurodevelopmental disorder with behavioral, ear, and skeletal abnormalities	Enrichment	FEM1B	1.77
120	Frontotemporal dementia and/or amyotrophic lateral sclerosis 6	Enrichment	VCP	1.77
121	Neurodevelopmental disorder with or without autism or seizures	Enrichment	CUL3	1.77
122	Tayoun-maawali syndrome	Enrichment	FBXO22	1.77
123	Multisystem proteinopathy	Enrichment	VCP	1.77
124	Developmental delay, hypotonia, and impaired language	Enrichment	FBXW7	1.77
125	Klhl9-related early-onset distal myopathy	Enrichment	KLHL9	1.77
126	Neurodevelopmental disorder with dysmorphic facies and ischiopubic hypoplasia	Enrichment	NAE1	1.77
127	Adult-onset distal myopathy due to vcp mutation	Enrichment	VCP	1.77
128	Progressive myoclonus epilepsy 3	Enrichment	KCTD7	1.77
129	Multiple paragangliomas associated with polycythemia	Enrichment	EPAS1	1.77
130	Basal cell carcinoma	Enrichment	PALB2	1.77
131	Giant axonal neuropathy	Enrichment	GAN	1.77
132	Primary peritoneal carcinoma	Enrichment	BRCA1	1.77
133	Retinal hemangioblastoma	Enrichment	VHL	1.77
134	Lung cancer	Enrichment	BRCA1, NFE2L2, PALB2	1.76
135	Ehlers-danlos syndrome, arthrochalasia type, 1	Enrichment	COL1A1, COL1A2	1.76
136	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	Enrichment	AKT3, PIK3R2	1.76
137	Immunodeficiency, common variable, 1	Enrichment	CTLA4, ICOS	1.76
138	Chronic myelogenous leukemia, bcr-abl1 positive	Enrichment	KRAS, NRAS	1.76
139	Cerebrovascular disease	Enrichment	PIK3CA, RNF213	1.76
140	Noonan syndrome with multiple lentigines	Enrichment	PTPN11, RAF1	1.76
141	Idiopathic achalasia	Enrichment	HLA-DQA1, HLA-DQB1	1.76
142	Cerebral malaria	Enrichment	CD36, ICAM1	1.76
143	Osteogenesis imperfecta with normal sclerae, dominant form	Enrichment	COL1A1, COL1A2	1.76
144	Breast-ovarian cancer, familial 1	Enrichment	BRCA1, PALB2	1.69
145	Osteochondrodysplasia	Enrichment	COL1A1, COL1A2, CTSK	1.69
146	Glomuvenous malformations	Enrichment	GLMN	1.66
147	Anencephaly 1	Enrichment	TRIM36	1.66
148	Tonne-kalscheuer syndrome	Enrichment	RLIM	1.66
149	Psoriasis 12	Enrichment	RNF114	1.66
150	Polyglucosan body myopathy 1 with or without immunodeficiency	Enrichment	RBCK1	1.66
151	Charcot-marie-tooth disease, axonal, type 2p	Enrichment	LRSAM1	1.66
152	Johanson-blizzard syndrome	Enrichment	UBR1	1.66
153	Spastic paraplegia and psychomotor retardation with or without seizures	Enrichment	HACE1	1.66
154	Leprosy 2	Enrichment	PRKN	1.66
155	Kaufman oculocerebrofacial syndrome	Enrichment	UBE3B	1.66
156	Clark-baraitser syndrome	Enrichment	TRIP12	1.66
157	Trigonocephaly with short stature and developmental delay	Enrichment	HUWE1	1.66
158	Oocyte/zygote/embryo maturation arrest 14	Enrichment	CDC20	1.66
159	Intellectual developmental disorder, x-linked, syndromic, nascimento type	Enrichment	UBE2A	1.66
160	Cardiomyopathy, familial hypertrophic, 31	Enrichment	TRIM63	1.66
161	Intellectual developmental disorder, x-linked, syndromic, turner type	Enrichment	HUWE1	1.66
162	Syndromic x-linked intellectual disability nascimento type	Enrichment	UBE2A	1.66
163	Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy	Enrichment	RNF220	1.66
164	Ferguson-bonni neurodevelopmental syndrome	Enrichment	ANAPC7	1.66
165	Developmental and epileptic encephalopathy 109	Enrichment	FZR1	1.66
166	Autoimmune disease, multisystem, with facial dysmorphism	Enrichment	ITCH	1.66
167	Rothmund-thomson syndrome, type 1	Enrichment	ANAPC1	1.66
168	Intellectual developmental disorder, autosomal recessive 38	Enrichment	HERC2	1.66
169	Immunodeficiency 78 with autoimmunity and developmental delay	Enrichment	TPP2	1.66
170	Syndromic x-linked intellectual disability turner type	Enrichment	HUWE1	1.66
171	Seckel syndrome 9	Enrichment	TRAIP	1.66
172	Cardiac, facial, and digital anomalies with developmental delay	Enrichment	TRAF7	1.66
173	Hydrocephalus, congenital, 4	Enrichment	TRIM71	1.66
174	Neurodevelopmental disorder with absent speech and movement and behavioral abnormalities	Enrichment	UBE3C	1.66
175	Periventricular nodular heterotopia 7	Enrichment	NEDD4L	1.66
176	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	Enrichment	HERC1	1.66
177	Familial glomangioma	Enrichment	GLMN	1.66
178	Spastic paraplegia-severe developmental delay-epilepsy syndrome	Enrichment	HACE1	1.66
179	Syndromic multisystem autoimmune disease due to itch deficiency	Enrichment	ITCH	1.66
180	Traf7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	Enrichment	TRAF7	1.66
181	15q11q13 microduplication syndrome	Enrichment	UBE3A	1.66
182	Fanconi anemia, complementation group a	Enrichment	BRCA1, PALB2, VHL	1.66
183	Long qt syndrome 1	Enrichment	CALM1, CALM2, CALM3, ITPR3, PTPN11	1.62
184	Juvenile myelomonocytic leukemia	Enrichment	KRAS, NRAS, PTPN11	1.58
185	Spondyloarthropathy 1	Enrichment	HLA-B	1.56
186	Leprosy 3	Enrichment	TLR2	1.56
187	Granulomatous disease, chronic, autosomal recessive, 4	Enrichment	CYBA	1.56
188	Incontinentia pigmenti	Enrichment	IKBKG	1.56
189	Immunodeficiency 34	Enrichment	CYBB	1.56
190	Autoinflammatory disease, systemic, x-linked	Enrichment	IKBKG	1.56
191	Immunodeficiency 68	Enrichment	MYD88	1.56
192	Coronary heart disease 7	Enrichment	CD36	1.56
193	Birbeck granule deficiency	Enrichment	CD207	1.56
194	Psoriasis 1	Enrichment	HLA-C	1.56
195	Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia	Enrichment	HMGB1	1.56
196	Craniolenticulosutural dysplasia	Enrichment	SEC23A	1.56
197	Macroglobulinemia, waldenstrom 1	Enrichment	MYD88	1.56
198	Bacteremia 1	Enrichment	TIRAP	1.56
199	Leprosy 5	Enrichment	TLR1	1.56
200	Fetal encasement syndrome	Enrichment	CHUK	1.56
201	Immunodeficiency 43	Enrichment	B2M	1.56
202	Cole-carpenter syndrome 2	Enrichment	SEC24D	1.56
203	Halperin-birk syndrome	Enrichment	SEC31A	1.56
204	Immunodeficiency 15b	Enrichment	IKBKB	1.56
205	Immunodeficiency 15a	Enrichment	IKBKB	1.56
206	Mhc class i deficiency 3	Enrichment	TAPBP	1.56
207	Ectodermal dysplasia and immunodeficiency 1	Enrichment	IKBKG	1.56
208	Isolated growth hormone deficiency type iii	Enrichment	BTK	1.56
209	Deafness, dystonia, and cerebral hypomyelination	Enrichment	BCAP31	1.56
210	Dialysis-related amyloidosis	Enrichment	B2M	1.56
211	Tubulointerstitial kidney disease, autosomal dominant 5	Enrichment	SEC61A1	1.56
212	Ankylosing spondylitis 1	Enrichment	HLA-B	1.56
213	Birdshot chorioretinopathy	Enrichment	HLA-A	1.56
214	Platelet glycoprotein iv deficiency	Enrichment	CD36	1.56
215	Deafness, autosomal recessive 123	Enrichment	STX4	1.56
216	Proteasome-associated autoinflammatory syndrome 6	Enrichment	PSMB9	1.56
217	Macular degeneration, age-related, 10	Enrichment	TLR4	1.56
218	Reactive arthritis	Enrichment	HLA-B	1.56
219	Bartsocas-papas syndrome 2	Enrichment	CHUK	1.56
220	Amyloidosis, hereditary systemic 6	Enrichment	B2M	1.56
221	Neutropenia, severe congenital, 11, autosomal dominant	Enrichment	SEC61A1	1.56
222	Congenital fibrinogen deficiency	Enrichment	FGG	1.56
223	Immune dysregulation, neurodevelopmental defects, and colitis	Enrichment	ITGAV	1.56
224	Waldenstram macroglobulinemia	Enrichment	MYD88	1.56
225	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to ikbka deficiency	Enrichment	CHUK	1.56
226	Pulmonary arterial hypertension associated with connective tissue disease	Enrichment	HLA-B	1.56
227	Narcolepsy 2	Enrichment	HLA-DQB1, HLA-DRB1	1.55
228	Hemangioma	Enrichment	PTEN, RNF213	1.55
229	Hypercalciuria, absorptive, 2	Enrichment	DCAF6	1.47
230	Woodhouse-sakati syndrome	Enrichment	DCAF17	1.47
231	Giant axonal neuropathy 1, autosomal recessive	Enrichment	GAN	1.47
232	Osteopathia striata with cranial sclerosis	Enrichment	AMER1	1.47
233	Xeroderma pigmentosum, complementation group e	Enrichment	DDB2	1.47
234	Intellectual developmental disorder, x-linked, syndromic, cabezas type	Enrichment	CUL4B	1.47
235	Amyotrophic lateral sclerosis 6 with or without frontotemporal dementia	Enrichment	VCP	1.47
236	Fanconi anemia, complementation group n	Enrichment	PALB2	1.47
237	Pseudohypoaldosteronism, type i, autosomal dominant	Enrichment	CUL3	1.47
238	Welander distal myopathy	Enrichment	SQSTM1	1.47
239	Goiter, multinodular 1, with or without sertoli-leydig cell tumors	Enrichment	KEAP1	1.47
240	Pancreatic cancer 3	Enrichment	PALB2	1.47
241	Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset	Enrichment	SQSTM1	1.47
242	Fanconi anemia, complementation group s	Enrichment	BRCA1	1.47
243	Birk-aharoni syndrome	Enrichment	PSMC1	1.47
244	Pettigrew syndrome	Enrichment	CUL4B	1.47
245	Mitochondrial complex i deficiency, nuclear type 10	Enrichment	ERCC8	1.47
246	Pancreatic cancer 4	Enrichment	BRCA1	1.47
247	Parkinson disease 15, autosomal recessive early-onset	Enrichment	FBXO7	1.47
248	Erythrocytosis, familial, 3	Enrichment	EPAS1	1.47
249	Paget's disease of bone	Enrichment	SQSTM1	1.47
250	Epilepsy, progressive myoclonic, 3, with or without intracellular inclusions	Enrichment	KCTD7	1.47
251	Inflammatory breast carcinoma	Enrichment	BRCA1	1.47
252	17q24.2 microdeletion syndrome	Enrichment	PSMD12	1.47
253	Giant axonal neuropathy 1	Enrichment	GAN	1.47
254	Peritoneum cancer	Enrichment	BRCA1	1.47
255	Cockayne syndrome type 3	Enrichment	ERCC8	1.47
256	Bilateral breast cancer	Enrichment	BRCA1	1.47
257	Acute leukemia of ambiguous lineage	Enrichment	VHL	1.47
258	Xeroderma pigmentosum group e	Enrichment	DDB2	1.47
259	Submucosal cleft palate	Enrichment	UBB	1.47
260	Cleft hard palate	Enrichment	UBB	1.47
261	Neuroendocrine tumor of pancreas	Enrichment	PALB2	1.47
262	Osteoporosis	Enrichment	COL1A1, COL1A2, SRC	1.40
263	Ehlers-danlos syndrome, classic type, 1	Enrichment	COL1A1, COL1A2	1.39
264	Developmental dysplasia of the hip 1	Enrichment	COL2A1, PSMC3	1.39
265	Cowden syndrome 1	Enrichment	PIK3CA, PTEN	1.39
266	Spinocerebellar ataxia, autosomal recessive 16	Enrichment	ITPR1, STUB1	1.39
267	Patent ductus arteriosus	Enrichment	PSMC3, PTPN11	1.39
268	Lung squamous cell carcinoma	Enrichment	KRAS, PIK3CA	1.39
269	Classic ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2	1.39
270	Blue rubber bleb nevus	Enrichment	GLMN	1.36
271	Diencephalic-mesencephalic junction dysplasia syndrome 1	Enrichment	RNF14	1.36
272	Muscular dystrophy, limb-girdle, autosomal recessive 8	Enrichment	TRIM32	1.36
273	Skin/hair/eye pigmentation, variation in, 1	Enrichment	HERC2	1.36
274	Autism x-linked 2	Enrichment	HUWE1	1.36
275	Parkinson disease 12	Enrichment	PRKN	1.36
276	Vexas syndrome	Enrichment	UBA1	1.36
277	Fatty liver disease 1	Enrichment	ATG7	1.36
278	Bardet-biedl syndrome 11	Enrichment	TRIM32	1.36
279	Spinocerebellar ataxia, autosomal recessive 24	Enrichment	UBA5	1.36
280	Neurodevelopmental disorder with hypotonia, seizures, and absent language	Enrichment	HECW2	1.36
281	Spinocerebellar ataxia 48	Enrichment	STUB1	1.36
282	Spinal muscular atrophy, x-linked 2	Enrichment	UBA1	1.36
283	Autoimmune disease, multisystem, infantile-onset, 3	Enrichment	CBLB	1.36
284	Autosomal recessive limb-girdle muscular dystrophy type 2h	Enrichment	TRIM32	1.36
285	Spinocerebellar ataxia, autosomal recessive 31	Enrichment	ATG7	1.36
286	Macrocephaly, dysmorphic facies, and psychomotor retardation	Enrichment	HERC1	1.36
287	Blepharophimosis - intellectual disability syndrome	Enrichment	UBE3B	1.36
288	Buratti-harel syndrome	Enrichment	SIAH1	1.36
289	Multifocal pattern dystrophy simulating fundus flavimaculatus	Enrichment	UBR2	1.36
290	Angelman syndrome due to maternal 15q11q13 deletion	Enrichment	UBE3A	1.36
291	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	Enrichment	RBCK1	1.36
292	Severe covid-19	Enrichment	HLA-A, ITGAV, RBCK1	1.35
293	Neuronal ceroid lipofuscinosis	Enrichment	CTSD, CTSF, KCTD7	1.32
294	Thrombocytopenia	Enrichment	FGG, PTPN11, SRC, TPP2, TUBB1, WAS	1.30
295	Prognathism, mandibular	Enrichment	GPR75-ASB3	1.30
296	Myasthenic syndrome, congenital, 6, presynaptic	Enrichment	VHL	1.30
297	Uvula, bifid	Enrichment	UBB	1.30
298	Cleft soft palate	Enrichment	UBB	1.30
299	Uv-sensitive syndrome 2	Enrichment	ERCC8	1.30
300	Breast-ovarian cancer, familial 5	Enrichment	PALB2	1.30
301	Primary polycythemia	Enrichment	VHL	1.30
302	Bacteremia 2	Enrichment	CISH	1.30
303	Inclusion body myopathy with paget disease of bone and frontotemporal dementia	Enrichment	VCP	1.30
304	Uv-sensitive syndrome	Enrichment	ERCC8	1.30
305	Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities	Enrichment	FBXO11	1.30
306	Enchondromatosis	Enrichment	HIF1A	1.30
307	Thyroid hemiagenesis	Enrichment	PSMD3	1.30
308	Granulomatous disease, chronic, autosomal recessive, 1	Enrichment	NCF1	1.27
309	Chylomicron retention disease	Enrichment	SAR1B	1.27
310	Immunodeficiency 33	Enrichment	IKBKG	1.27
311	Isolated growth hormone deficiency, type iii, with agammaglobulinemia	Enrichment	BTK	1.27
312	Granulomatous disease, chronic, autosomal recessive, 3	Enrichment	NCF4	1.27
313	Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads	Enrichment	ERAP1	1.27
314	Proteasome-associated autoinflammatory syndrome 5	Enrichment	PSMB10	1.27
315	Agammaglobulinemia, x-linked	Enrichment	BTK	1.27
316	Immunodeficiency, common variable, 15	Enrichment	SEC61A1	1.27
317	Immunodeficiency 121 with autoinflammation	Enrichment	PSMB10	1.27
318	Stevens-johnson syndrome	Enrichment	HLA-B	1.27
319	Leprosy 1	Enrichment	TLR6	1.27
320	Glucosephosphate dehydrogenase deficiency	Enrichment	IKBKG	1.27
321	Cadds	Enrichment	BCAP31	1.27
322	Transient predisposition to invasive pyogenic bacterial infection	Enrichment	MYD88	1.27
323	Osteogenesis imperfecta, type ii	Enrichment	COL1A1, COL1A2	1.26
324	Myelofibrosis	Enrichment	CALR, SRC	1.26
325	Polymicrogyria, bilateral perisylvian, x-linked	Enrichment	TUBA1A, TUBB2B	1.26
326	Capillary malformation-arteriovenous malformation 1	Enrichment	KRAS, PIK3CA	1.26
327	Leukemia, chronic myeloid	Enrichment	KRAS, NRAS	1.26
328	Renal cell carcinoma, papillary, 1	Enrichment	MTOR, VHL	1.26
329	Gallbladder cancer	Enrichment	KRAS, PIK3CA	1.26
330	Pilomyxoid astrocytoma	Enrichment	KRAS, RAF1	1.26
331	Common variable immunodeficiency	Enrichment	CD40LG, NFKB1	1.26
332	Oligoarticular juvenile idiopathic arthritis	Enrichment	CD247, PTPN22	1.26
333	Overgrowth syndrome	Enrichment	MTOR, PIK3R1	1.26
334	Rheumatoid factor-negative juvenile idiopathic arthritis	Enrichment	CD247, PTPN22	1.26
335	Stickler syndrome, type i	Enrichment	COL2A1	1.25
336	Blood group system, landsteiner-wiener	Enrichment	ICAM4	1.25
337	Anhidrosis, isolated, with normal sweat glands	Enrichment	ITPR2	1.25
338	Keratolytic winter erythema	Enrichment	CTSB	1.25
339	Macrodactyly	Enrichment	PIK3CA	1.25
340	Proteus syndrome	Enrichment	AKT1	1.25
341	Metachondromatosis	Enrichment	PTPN11	1.25
342	Perry syndrome	Enrichment	DCTN1	1.25
343	Cardiospondylocarpofacial syndrome	Enrichment	MAP3K7	1.25
344	Microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development	Enrichment	KIF11	1.25
345	Epiphyseal dysplasia, multiple, with myopia and conductive deafness	Enrichment	COL2A1	1.25
346	Hypoinsulinemic hypoglycemia with hemihypertrophy	Enrichment	AKT2	1.25
347	Ehlers-danlos syndrome, cardiac valvular type	Enrichment	COL1A2	1.25
348	Spondylometaphyseal dysplasia, algerian type	Enrichment	COL2A1	1.25
349	Keratitis-ichthyosis-deafness syndrome, autosomal recessive	Enrichment	AP1B1	1.25
350	C syndrome	Enrichment	CD96	1.25
351	Oculoectodermal syndrome	Enrichment	KRAS	1.25
352	Vacterl association with hydrocephalus	Enrichment	PTEN	1.25
353	Thrombocytopenia 1	Enrichment	WAS	1.25
354	Fibrosis of extraocular muscles, congenital, 3a, with or without extraocular involvement	Enrichment	TUBB3	1.25
355	Intellectual developmental disorder, x-linked 30	Enrichment	PAK3	1.25
356	Intellectual developmental disorder, x-linked 100	Enrichment	KIF4A	1.25
357	Hypocalciuric hypercalcemia, familial, type iii	Enrichment	AP2S1	1.25
358	Spastic paraplegia 10, autosomal dominant	Enrichment	KIF5A	1.25
359	Taurodontism, microdontia, and dens invaginatus	Enrichment	KIF4A	1.25
360	Osteoarthritis with mild chondrodysplasia	Enrichment	COL2A1	1.25
361	Spinocerebellar ataxia 5	Enrichment	SPTBN2	1.25
362	Pycnodysostosis	Enrichment	CTSK	1.25
363	Avascular necrosis of femoral head, primary, 1	Enrichment	COL2A1	1.25
364	Noonan syndrome 5	Enrichment	RAF1	1.25
365	Immunodeficiency 61	Enrichment	SH3KBP1	1.25
366	Czech dysplasia	Enrichment	COL2A1	1.25
367	Noonan syndrome 4	Enrichment	SOS1	1.25
368	Celiac disease 3	Enrichment	CTLA4	1.25
369	Megalencephaly, autosomal dominant	Enrichment	PIK3CA	1.25
370	Kniest dysplasia	Enrichment	COL2A1	1.25
371	Hemolytic uremic syndrome, atypical 5	Enrichment	C3	1.25
372	Leopard syndrome 1	Enrichment	PTPN11	1.25
373	Platyspondylic lethal skeletal dysplasia, torrance type	Enrichment	COL2A1	1.25
374	Cardiomyopathy, dilated, 1nn	Enrichment	RAF1	1.25
375	Cowden syndrome 5	Enrichment	PIK3CA	1.25
376	Melanosis, neurocutaneous	Enrichment	NRAS	1.25
377	Charcot-marie-tooth disease, dominant intermediate b	Enrichment	DNM2	1.25
378	Spondyloepiphyseal dysplasia, stanescu type	Enrichment	COL2A1	1.25
379	Bleeding disorder, platelet-type, 18	Enrichment	RASGRP2	1.25
380	Macrothrombocytopenia, isolated, 1, autosomal dominant	Enrichment	TUBB1	1.25
381	Noonan syndrome 6	Enrichment	NRAS	1.25
382	Immunodeficiency 116	Enrichment	CD8A	1.25
383	Immunodeficiency, common variable, 6	Enrichment	CD81	1.25
384	Aortic aneurysm, familial thoracic 8	Enrichment	PRKG1	1.25
385	Immunodeficiency 20	Enrichment	FCGR3A	1.25
386	Ceroid lipofuscinosis, neuronal, 10	Enrichment	CTSD	1.25
387	Frontometaphyseal dysplasia 2	Enrichment	MAP3K7	1.25
388	Ataxia-oculomotor apraxia 3	Enrichment	PIK3R5	1.25
389	Agammaglobulinemia 3, autosomal recessive	Enrichment	CD79A	1.25
390	Cortical dysplasia, complex, with other brain malformations 3	Enrichment	KIF2A	1.25
391	Acrogeria, gottron type	Enrichment	COL3A1	1.25
392	Achondrogenesis, type ii	Enrichment	COL2A1	1.25
393	Ceroid lipofuscinosis, neuronal, 13	Enrichment	CTSF	1.25
394	Immunodeficiency 64 with lymphoproliferation	Enrichment	RASGRP1	1.25
395	Cerebral cavernous malformations 4	Enrichment	PIK3CA	1.25
396	Immunodeficiency 81	Enrichment	LCP2	1.25
397	Immunodeficiency 82 with systemic inflammation	Enrichment	SYK	1.25
398	Cardiomyopathy, familial restrictive, 6	Enrichment	KIF20A	1.25
399	Leber congenital amaurosis with early-onset deafness	Enrichment	TUBB4B	1.25
400	Immunodeficiency 92	Enrichment	REL	1.25
401	Immunodeficiency with hyper-igm, type 1	Enrichment	CD40LG	1.25
402	Lymphoproliferative syndrome, x-linked, 1	Enrichment	SH2D1A	1.25
403	Charcot-marie-tooth disease, demyelinating, type 1j	Enrichment	ITPR3	1.25
404	Knobloch syndrome 2	Enrichment	PAK2	1.25
405	Developmental and epileptic encephalopathy 91	Enrichment	PPP3CA	1.25
406	Charcot-marie-tooth disease, axonal, type 2b	Enrichment	RAB7A	1.25
407	Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development	Enrichment	PPP3CA	1.25
408	Immunodeficiency 48	Enrichment	ZAP70	1.25
409	Short syndrome	Enrichment	PIK3R1	1.25
410	Intellectual developmental disorder with macrocephaly, seizures, and speech delay	Enrichment	PAK1	1.25
411	Autoimmune disease, multisystem, infantile-onset, 4	Enrichment	PDCD1	1.25
412	Houge-janssens syndrome 4	Enrichment	PPP2R5C	1.25
413	Combined osteogenesis imperfecta and ehlers-danlos syndrome 2	Enrichment	COL1A2	1.25
414	Okt4 epitope deficiency	Enrichment	CD4	1.25
415	Immune dysregulation, autoimmunity, and autoinflammation	Enrichment	PLCG1	1.25
416	Charcot-marie-tooth disease type 2b	Enrichment	RAB7A	1.25
417	Spondyloperipheral dysplasia	Enrichment	COL2A1	1.25
418	Thrombocytopenia 3	Enrichment	FYB1	1.25
419	Immunodeficiency 119	Enrichment	ICOSLG	1.25
420	Oocyte/zygote/embryo maturation arrest 24	Enrichment	TUBA1C	1.25
421	Cardioacrofacial dysplasia 2	Enrichment	PRKACB	1.25
422	Spinocerebellar ataxia, autosomal recessive 14	Enrichment	SPTBN2	1.25
423	Type 1 diabetes mellitus 12	Enrichment	CTLA4	1.25
424	Immunodeficiency 18	Enrichment	CD3E	1.25
425	Myoclonus, intractable, neonatal	Enrichment	KIF5A	1.25
426	Papillary tumor of the pineal region	Enrichment	PTEN	1.25
427	Cortical dysplasia, complex, with other brain malformations 11	Enrichment	KIF26A	1.25
428	Cardiofaciocutaneous syndrome 2	Enrichment	KRAS	1.25
429	Immunodeficiency 10	Enrichment	STIM1	1.25
430	Houge-janssens syndrome 2	Enrichment	PPP2R1A	1.25
431	Usmani-riazuddin syndrome, autosomal recessive	Enrichment	AP1G1	1.25
432	Pulmonary alveolar proteinosis, acquired	Enrichment	HLA-DRB1	1.25
433	Immunodeficiency 25	Enrichment	CD247	1.25
434	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	Enrichment	AKT3	1.25
435	Hemifacial myohyperplasia	Enrichment	PIK3CA	1.25
436	Systemic lupus erythematosus 2	Enrichment	PDCD1	1.25
437	Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth	Enrichment	PIK3CA	1.25
438	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	Enrichment	KIF22	1.25
439	Amyotrophic lateral sclerosis 25	Enrichment	KIF5A	1.25
440	Immunodeficiency with hyper-igm, type 3	Enrichment	CD40	1.25
441	Lymphoproliferative syndrome 1	Enrichment	ITK	1.25
442	Neuronopathy, distal hereditary motor, autosomal dominant 14	Enrichment	DCTN1	1.25
443	Malaria, mild	Enrichment	NCR3	1.25
444	Stickler syndrome, type i, nonsyndromic ocular	Enrichment	COL2A1	1.25
445	Cortical dysplasia, complex, with other brain malformations 7	Enrichment	TUBB2B	1.25
446	Leopard syndrome 2	Enrichment	RAF1	1.25
447	Lethal congenital contracture syndrome 5	Enrichment	DNM2	1.25
448	Immunodeficiency 36 with lymphoproliferation	Enrichment	PIK3R1	1.25
449	Psoriasis 15, pustular	Enrichment	AP1S3	1.25
450	Autoinflammation, antibody deficiency, and immune dysregulation	Enrichment	PLCG2	1.25
451	Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies	Enrichment	RAP1B	1.25
452	Alzheimer disease 17	Enrichment	TREM2	1.25
453	Long qt syndrome 16	Enrichment	CALM3	1.25
454	Cowden syndrome 6	Enrichment	AKT1	1.25
455	Graham little-piccardi-lassueur syndrome	Enrichment	HLA-DRA	1.25
456	Retinitis pigmentosa 89	Enrichment	KIF3B	1.25
457	Oocyte/zygote/embryo maturation arrest 23	Enrichment	TUBA4A	1.25
458	Dengue virus	Enrichment	CD209	1.25
459	Frontotemporal dementia and/or amyotrophic lateral sclerosis 9	Enrichment	TUBA4A	1.25
460	Pigmented nodular adrenocortical disease, primary, 4	Enrichment	PRKACA	1.25
461	Immunodeficiency 14b, autosomal recessive	Enrichment	PIK3CD	1.25
462	Immunodeficiency, common variable, 3	Enrichment	CD19	1.25
463	Agammaglobulinemia 7, autosomal recessive	Enrichment	PIK3R1	1.25
464	Immunodeficiency 97 with autoinflammation	Enrichment	PIK3CG	1.25
465	Macular degeneration, age-related, 9	Enrichment	C3	1.25
466	Immunodeficiency 123 with hpv-related verrucosis	Enrichment	CD28	1.25
467	Immunodeficiency 105, severe combined	Enrichment	PTPRC	1.25
468	Glioma susceptibility 2	Enrichment	PTEN	1.25
469	Complement component 3 deficiency, autosomal recessive	Enrichment	C3	1.25
470	Familial cold autoinflammatory syndrome 3	Enrichment	PLCG2	1.25
471	Autoimmune disease, multisystem, infantile-onset, 2	Enrichment	ZAP70	1.25
472	Dync1h1-related disorders	Enrichment	DYNC1H1	1.25
473	Immunodeficiency 22	Enrichment	LCK	1.25
474	Cardioacrofacial dysplasia 1	Enrichment	PRKACA	1.25
475	Microcephaly 13, primary, autosomal recessive	Enrichment	CENPE	1.25
476	Thrombocytopenia 6	Enrichment	SRC	1.25
477	Was-related disorders	Enrichment	WAS	1.25
478	Usmani-riazuddin syndrome, autosomal dominant	Enrichment	AP1G1	1.25
479	Takenouchi-kosaki syndrome	Enrichment	CDC42	1.25
480	Facial palsy, congenital, with ptosis and velopharyngeal dysfunction	Enrichment	TUBB6	1.25
481	Congenital autosomal recessive small-platelet thrombocytopenia	Enrichment	FYB1	1.25
482	Berylliosis	Enrichment	HLA-DPB1	1.25
483	Autoinflammatory disease, systemic, with vasculitis	Enrichment	LYN	1.25
484	Immunodeficiency 79	Enrichment	CD4	1.25
485	Neurodevelopmental disorder with microcephaly and structural brain anomalies	Enrichment	DYNC1I2	1.25
486	Cd45 deficiency	Enrichment	PTPRC	1.25
487	Trigonitis	Enrichment	RAF1	1.25
488	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2	Enrichment	TREM2	1.25
489	Vitreoretinopathy with phalangeal epiphyseal dysplasia	Enrichment	COL2A1	1.25
490	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	Enrichment	PIK3CA	1.25
491	Asphyxia neonatorum	Enrichment	COL1A1	1.25
492	Immunodeficiency 19, severe combined	Enrichment	CD3D	1.25
493	Macrothrombocytopenia, isolated, 2, autosomal dominant	Enrichment	TUBA8	1.25
494	Braddock-carey syndrome 2	Enrichment	KIF15	1.25
495	Complement component 3 deficiency	Enrichment	C3	1.25
496	Long qt syndrome 15	Enrichment	CALM2	1.25
497	Late-onset junctional epidermolysis bullosa	Enrichment	COL17A1	1.25
498	Lissencephaly due to tuba1a mutation	Enrichment	TUBA1A	1.25
499	Congenital myopathy 26	Enrichment	TUBA4A	1.25
500	Spastic ataxia 11, autosomal dominant	Enrichment	TUBA4A	1.25
501	Amyotrophic lateral sclerosis type 22	Enrichment	TUBA4A	1.25
502	Autosomal dominant charcot-marie-tooth disease type 2m	Enrichment	DNM2	1.25
503	Hypospadias	Enrichment	PIK3CA	1.25
504	Capillary hemangioma	Enrichment	AKT3	1.25
505	Immunodeficiency 133 with ectodermal dysplasia with or without peripheral neuropathy	Enrichment	ITPR3	1.25
506	Neurodegeneration, early-childhood-onset, with retinitis pigmentosa, sensorineural hearing loss, and demyelinating peripheral neuropathy	Enrichment	KLC4	1.25
507	Colitis	Enrichment	SYK	1.25
508	Immunodeficiency 112	Enrichment	MAP3K14	1.25
509	Autoimmune disease, multisystem, infantile-onset, 5	Enrichment	CD274	1.25
510	Thrombocytopenia 10	Enrichment	PTPRJ	1.25
511	21q22.11q22.12 microdeletion syndrome	Enrichment	KIF15	1.25
512	Congenital dyserythropoietic anemia type iiib	Enrichment	RACGAP1	1.25
513	Congenital pulmonary airway malformation	Enrichment	KRAS	1.25
514	Autosomal dominant rhegmatogenous retinal detachment	Enrichment	COL2A1	1.25
515	Membranoproliferative glomerulonephritis	Enrichment	C3	1.25
516	Polymicrogyria with optic nerve hypoplasia	Enrichment	TUBA8	1.25
517	Primary membranoproliferative glomerulonephritis	Enrichment	C3	1.25
518	Rare venous malformation	Enrichment	PIK3CA	1.25
519	Multiple epiphyseal dysplasia with myopia and deafness	Enrichment	COL2A1	1.25
520	Vegetative pyoderma gangrenosum	Enrichment	PTPN6	1.25
521	Bullous pyoderma gangrenosum	Enrichment	PTPN6	1.25
522	Cd40 ligand deficiency	Enrichment	CD40LG	1.25
523	Immunodeficiency 64	Enrichment	RASGRP1	1.25
524	Diaphragmatic eventration	Enrichment	PIK3CA	1.25
525	Hypochondrogenesis	Enrichment	COL2A1	1.25
526	Ebv-induced lymphoproliferative disease due to rasgrp1 deficiency	Enrichment	RASGRP1	1.25
527	Agammaglobulinemia 3	Enrichment	CD79A	1.25
528	Pustular pyoderma gangrenosum	Enrichment	PTPN6	1.25
529	Nocarh syndrome	Enrichment	CDC42	1.25
530	Pik3ca-related overgrowth spectrum	Enrichment	PIK3CA	1.25
531	Immunodeficiency 19	Enrichment	CD3D	1.25
532	Dysspondyloenchondromatosis	Enrichment	COL2A1	1.25
533	Rare combined vascular malformation	Enrichment	PIK3CA	1.25
534	Abdominal aortic aneurysm	Enrichment	COL3A1	1.25
535	Anemia, congenital dyserythropoietic, type iiib, autosomal recessive	Enrichment	RACGAP1	1.25
536	Cavernous lymphangioma	Enrichment	PIK3CA	1.25
537	Pik3ca-related overgrowth syndrome	Enrichment	PIK3CA	1.25
538	Phakomatosis pigmentokeratotica	Enrichment	HRAS	1.25
539	Ppp2r1a-related neurodevelopmental disorder	Enrichment	PPP2R1A	1.25
540	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	Enrichment	PTEN	1.25
541	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	Enrichment	RAC1	1.25
542	Autosomal dominant charcot-marie-tooth disease type 2 due to kif5a mutation	Enrichment	KIF5A	1.25
543	Classic pyoderma gangrenosum	Enrichment	PTPN6	1.25
544	Cathepsin a-related arteriopathy-strokes-leukoencephalopathy	Enrichment	CTSA	1.25
545	Type 2 collagen-related bone disorder	Enrichment	COL2A1	1.25
546	Late-onset combined immunodeficiency due to icosl deficiency	Enrichment	ICOSLG	1.25
547	Hemihyperplasia-multiple lipomatosis syndrome	Enrichment	PIK3CA	1.25
548	Eccrine angiomatous hamartoma	Enrichment	PIK3CA	1.25
549	Macrodactyly of toe	Enrichment	PIK3CA	1.25
550	Neurocutaneous melanocytosis	Enrichment	NRAS	1.25
551	Nik deficiency	Enrichment	MAP3K14	1.25
552	Zap70-related severe combined immunodeficiency	Enrichment	ZAP70	1.25
553	Polyvalvular heart disease syndrome	Enrichment	TAB2	1.25
554	Akt2-related familial partial lipodystrophy	Enrichment	AKT2	1.25
555	Malignant astrocytoma	Enrichment	PTPN11	1.25
556	Glycogen storage disease iv	Enrichment	RBCK1	1.19
557	Immune thrombocytopenia	Enrichment	SOCS1	1.19
558	Chromosome 5q14.3 deletion syndrome, distal	Enrichment	NEDD4L	1.19
559	Autoinflammatory syndrome, familial, with or without immunodeficiency	Enrichment	SOCS1	1.19
560	Developmental and epileptic encephalopathy 44	Enrichment	UBA5	1.19
561	Neurodevelopmental disorder with hypotonia and gross motor and speech delay	Enrichment	UBE4A	1.19
562	Moyamoya disease 2	Enrichment	RNF213	1.19
563	Diencephalic-mesencephalic junction dysplasia	Enrichment	RNF14	1.19
564	Angelman syndrome due to imprinting defect in 15q11-q13	Enrichment	UBE3A	1.19
565	Deafness, autosomal recessive 1a	Enrichment	ERCC8	1.17
566	Chordoma	Enrichment	PALB2	1.17
567	Erythrocytosis, familial, 2	Enrichment	VHL	1.17
568	Polyposis syndrome, hereditary mixed, 1	Enrichment	BRCA1	1.17
569	Paget disease of bone 2, early-onset	Enrichment	SQSTM1	1.17
570	Cholangiocarcinoma	Enrichment	BRCA1	1.17
571	Au-kline syndrome	Enrichment	VHL	1.17
572	Tuberculosis	Enrichment	CISH	1.17
573	Gjb2-related autosomal recessive nonsyndromic hearing loss	Enrichment	ERCC8	1.17
574	Paget's disease of bone 2	Enrichment	SQSTM1	1.17
575	Intermediate nemaline myopathy	Enrichment	KLHL41	1.17
576	Pancreatic cancer	Enrichment	BRCA1, PALB2	1.17
577	Myopathy, tubular aggregate, 1	Enrichment	ORAI1, STIM1	1.16
578	Spastic paraplegia 4, autosomal dominant	Enrichment	COL3A1, FGG	1.16
579	Patent foramen ovale	Enrichment	PSMC3, PTPN11, TAB2	1.12
580	Bladder cancer	Enrichment	HRAS, KRAS, PIK3CA, PTEN	1.12
581	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	Enrichment	CCNF, SQSTM1, VCP	1.11
582	Thrombocythemia 1	Enrichment	CALR	1.10
583	Autoimmune polyendocrine syndrome, type i, with or without reversible metaphyseal dysplasia	Enrichment	CYBA	1.10
584	Takayasu arteritis	Enrichment	HLA-B	1.10
585	Agammaglobulinemia 1, autosomal recessive	Enrichment	BTK	1.10
586	Agammaglobulinemia 1	Enrichment	BTK	1.10
587	Autoimmune polyendocrine syndrome type 1	Enrichment	CYBA	1.10
588	Cole-carpenter syndrome	Enrichment	SEC24D	1.10
589	Enchondromatosis, multiple, ollier type	Enrichment	HIF1A	1.08
590	Dementia, lewy body	Enrichment	VCP	1.08
591	Fanconi anemia, complementation group d2	Enrichment	VHL	1.08
592	Cockayne syndrome a	Enrichment	ERCC8	1.08
593	Von hippel-lindau syndrome	Enrichment	VHL	1.08
594	Breast-ovarian cancer, familial 2	Enrichment	BRCA1	1.08
595	Charcot-marie-tooth disease, axonal, type 2e	Enrichment	VCP	1.08
596	Pervasive developmental disorder	Enrichment	FBXW7	1.08
597	Severe congenital nemaline myopathy	Enrichment	KLHL41	1.08
598	Rare pervasive developmental disorder	Enrichment	FBXW7	1.08
599	Mulibrey nanism	Enrichment	TRIM37	1.07
600	Anemia, autoimmune hemolytic	Enrichment	SOCS1	1.07
601	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	Enrichment	TRIM71	1.07
602	Anencephaly	Enrichment	TRIM36	1.07
603	Complex hereditary spastic paraplegia	Enrichment	PRKN	1.07
604	Middle aortic syndrome	Enrichment	RNF213	1.07
605	Ellis-van creveld syndrome	Enrichment	PRKACA, PRKACB	1.06
606	Arteriovenous malformation	Enrichment	HRAS, PIK3CA	1.06
607	Bilateral perisylvian polymicrogyria	Enrichment	TUBA1A, TUBB2B	1.06
608	Ehlers-danlos syndrome	Enrichment	COL1A1, COL1A2, COL3A1	1.06
609	Prostate cancer	Enrichment	BRCA1, PALB2	1.05
610	Non-immune hydrops fetalis	Enrichment	CTSA, HRAS, KRAS, PTPN11	1.03
611	Hereditary breast carcinoma	Enrichment	AKT1, DCTN5, KRAS, PIK3CA, PTEN	1.01
612	Cockayne syndrome b	Enrichment	ERCC8	1.01
613	Ritscher-schinzel syndrome 1	Enrichment	CCDC22	1.01
614	Mitochondrial dna depletion syndrome	Enrichment	FBXL4	1.01
615	Autosomal dominant secondary polycythemia	Enrichment	EPAS1	1.01
616	Typical nemaline myopathy	Enrichment	KLHL41	1.01
617	Myopathy, x-linked, with excessive autophagy	Enrichment	HRAS, PIK3CA	0.98
618	Autosomal dominant macrothrombocytopenia	Enrichment	TUBA8, TUBB1	0.98
619	Parkinson disease 2, autosomal recessive juvenile	Enrichment	PRKN	0.98
620	Parkin type of early-onset parkinson disease	Enrichment	PRKN	0.98
621	Budd-chiari syndrome	Enrichment	CALR	0.98
622	Blood platelet disease	Enrichment	CD36	0.98
623	Spinocerebellar ataxia 29	Enrichment	ITPR1	0.96
624	Ehlers-danlos syndrome, vascular type	Enrichment	COL3A1	0.96
625	Epiphyseal dysplasia, multiple, 1	Enrichment	COL1A1	0.96
626	Amelogenesis imperfecta, type ib	Enrichment	COL17A1	0.96
627	Amelogenesis imperfecta, type ia	Enrichment	COL17A1	0.96
628	Hashimoto thyroiditis	Enrichment	CTLA4	0.96
629	Leukocyte adhesion deficiency, type i	Enrichment	ITGB2	0.96
630	Periodontitis, aggressive, 1	Enrichment	CTSC	0.96
631	Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant	Enrichment	DYNC1H1	0.96
632	Ehlers-danlos syndrome, hypermobility type	Enrichment	COL3A1	0.96
633	Dystonia 4, torsion, autosomal dominant	Enrichment	TUBB4A	0.96
634	Fibromatosis, gingival, 1	Enrichment	SOS1	0.96
635	Spondyloepimetaphyseal dysplasia, strudwick type	Enrichment	COL2A1	0.96
636	Costello syndrome	Enrichment	HRAS	0.96
637	Haim-munk syndrome	Enrichment	CTSC	0.96
638	Spondylometaphyseal dysplasia, corner fracture type	Enrichment	COL2A1	0.96
639	Papillon-lefevre syndrome	Enrichment	CTSC	0.96
640	Bruck syndrome 1	Enrichment	COL1A2	0.96
641	Microcephaly and chorioretinopathy, autosomal recessive, 1	Enrichment	KIF11	0.96
642	Otospondylomegaepiphyseal dysplasia, autosomal recessive	Enrichment	COL2A1	0.96
643	Neutropenia, severe congenital, x-linked	Enrichment	WAS	0.96
644	Dermatofibrosarcoma protuberans	Enrichment	COL1A1	0.96
645	Wiskott-aldrich syndrome	Enrichment	WAS	0.96
646	Pulmonic stenosis	Enrichment	SOS1	0.96
647	Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	Enrichment	PIK3R5	0.96
648	Xanthinuria, type i	Enrichment	XDH	0.96
649	Agammaglobulinemia 4, autosomal recessive	Enrichment	BLNK	0.96
650	Ectodermal dysplasia and immunodeficiency 2	Enrichment	NFKBIA	0.96
651	Spastic paraplegia, optic atrophy, and neuropathy	Enrichment	KLC2	0.96
652	Legg-calve-perthes disease	Enrichment	COL2A1	0.96
653	Agammaglobulinemia 6, autosomal recessive	Enrichment	CD79B	0.96
654	Ventricular tachycardia, catecholaminergic polymorphic, 4	Enrichment	CALM1	0.96
655	Keratosis, seborrheic	Enrichment	PIK3CA	0.96
656	Melanoma, cutaneous malignant 6	Enrichment	KLC1	0.96
657	Immunodeficiency 9	Enrichment	ORAI1	0.96
658	Leukocyte adhesion deficiency, type iii	Enrichment	ITGB2	0.96
659	Sarcoidosis 2	Enrichment	BTNL2	0.96
660	Encephalocraniocutaneous lipomatosis	Enrichment	KRAS	0.96
661	Epithelial recurrent erosion dystrophy	Enrichment	COL17A1	0.96
662	Creutzfeldt-jakob disease	Enrichment	HLA-DQB1	0.96
663	Roifman-chitayat syndrome	Enrichment	PIK3CD	0.96
664	Maturity-onset diabetes of the young, type 11	Enrichment	BLK	0.96
665	Bleeding disorder, platelet-type, 19	Enrichment	PRKACG	0.96
666	Galactosialidosis	Enrichment	CTSA	0.96
667	Otospondylomegaepiphyseal dysplasia, autosomal dominant	Enrichment	COL2A1	0.96
668	Muscular dystrophy, limb-girdle, autosomal recessive 3	Enrichment	TUBA1A	0.96
669	Noonan syndrome 8	Enrichment	PIK3CA	0.96
670	Immunodeficiency, common variable, 12, with autoimmunity	Enrichment	NFKB1	0.96
671	Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies	Enrichment	DYNC1I2	0.96
672	Long qt syndrome 14	Enrichment	CALM1	0.96
673	Houge-janssens syndrome 1	Enrichment	PPP2R5D	0.96
674	Cortical dysplasia, complex, with other brain malformations 13	Enrichment	DYNC1H1	0.96
675	Psoriasis 14, pustular	Enrichment	AP1S3	0.96
676	Combined osteogenesis imperfecta and ehlers-danlos syndrome 1	Enrichment	COL1A1	0.96
677	Epidermolysis bullosa, junctional 4, intermediate	Enrichment	COL17A1	0.96
678	Intellectual developmental disorder, autosomal dominant 48	Enrichment	RAC1	0.96
679	Periventricular nodular heterotopia 8	Enrichment	ARF1	0.96
680	Werner syndrome	Enrichment	PTPN11	0.96
681	Cebalid syndrome	Enrichment	MTOR	0.96
682	Keratoconus 9	Enrichment	TUBA3D	0.96
683	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	Enrichment	COL3A1	0.96
684	Autosomal recessive limb-girdle muscular dystrophy type 2d	Enrichment	TUBA1A	0.96
685	Microcephaly and chorioretinopathy 1	Enrichment	KIF11	0.96
686	Rela fusion-positive ependymoma	Enrichment	RELA	0.96
687	Lissencephaly 3	Enrichment	TUBA1A	0.96
688	Myopathy, tubular aggregate, 2	Enrichment	ORAI1	0.96
689	Aortic dissection	Enrichment	COL3A1	0.96
690	Spinal muscular atrophy with lower extremity predominant	Enrichment	DYNC1H1	0.96
691	Senior-loken syndrome 7	Enrichment	AKT3	0.96
692	Agammaglobulinemia 4	Enrichment	BLNK	0.96
693	Agammaglobulinemia 6	Enrichment	CD79B	0.96
694	Rosette-forming glioneuronal tumor	Enrichment	PIK3CA	0.96
695	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4	Enrichment	KIF5A	0.96
696	Stickler syndrome, type ii	Enrichment	COL1A1	0.96
697	Immunodeficiency 104, severe combined	Enrichment	PTPRC	0.96
698	Fibrolamellar carcinoma	Enrichment	PRKACA	0.96
699	Cortical dysplasia, complex, with other brain malformations 1	Enrichment	TUBB3	0.96
700	Charcot-marie-tooth disease, axonal, type 2o	Enrichment	DYNC1H1	0.96
701	Congenital heart defects, multiple types, 2	Enrichment	TAB2	0.96
702	Intellectual developmental disorder, autosomal dominant 60, with seizures	Enrichment	AP2M1	0.96
703	Familial avascular necrosis of the femoral head	Enrichment	COL2A1	0.96
704	Immunodeficiency 17	Enrichment	CD3G	0.96
705	Bardet-biedl syndrome 16	Enrichment	AKT3	0.96
706	Smith-kingsmore syndrome	Enrichment	MTOR	0.96
707	Immunodeficiency 52	Enrichment	LAT	0.96
708	Torsion dystonia 4	Enrichment	TUBB4A	0.96
709	Houge-janssens syndrome 3	Enrichment	PPP2CA	0.96
710	Demyelinating polyneuropathy	Enrichment	KIF5A	0.96
711	Distal hereditary motor neuropathy type 7	Enrichment	DCTN1	0.96
712	Joint contractures, osteochondromas, and b-cell lymphoma	Enrichment	NFATC2	0.96
713	Localized junctional epidermolysis bullosa, non-herlitz type	Enrichment	COL17A1	0.96
714	Vacterl with hydrocephalus	Enrichment	PTEN	0.96
715	Arthritis	Enrichment	SYK	0.96
716	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	Enrichment	TAB2	0.96
717	Dentinogenesis imperfecta	Enrichment	COL1A2	0.96
718	Common variable immunodeficiency 12	Enrichment	NFKB1	0.96
719	Skeletal muscle disease	Enrichment	KIF5B	0.96
720	Juvenile polyposis of infancy	Enrichment	PTEN	0.96
721	Combined deficiency of sialidase and beta galactosidase	Enrichment	CTSA	0.96
722	Continuous spikes and waves during sleep	Enrichment	TUBA1A	0.96
723	Wooly hair nevus	Enrichment	HRAS	0.96
724	Endometrial cancer	Enrichment	AREL1, PIK3CA, PTEN	0.96
725	Multiple endocrine neoplasia, type i	Enrichment	CDKN1A	0.94
726	Cockayne syndrome	Enrichment	ERCC8	0.94
727	Multisystem inflammatory syndrome in children	Enrichment	TLR6, TRIM69	0.92
728	Frontotemporal dementia 1	Enrichment	DCTN1, TREM2	0.91
729	Combined immunodeficiency	Enrichment	ICOSLG, ZAP70	0.91
730	Combined t cell and b cell immunodeficiency	Enrichment	ICOSLG, ZAP70	0.91
731	Combined t and b cell immunodeficiency	Enrichment	ICOSLG, ZAP70	0.91
732	Angelman syndrome	Enrichment	UBE3A	0.91
733	Moyamoya disease 1	Enrichment	RNF213	0.91
734	Inguinal hernia	Enrichment	RNF213	0.91
735	Anemia, congenital, nonspherocytic hemolytic, 1	Enrichment	IKBKG	0.89
736	Lip and oral cavity carcinoma	Enrichment	HRAS, PIK3CA	0.85
737	Congenital long qt syndrome	Enrichment	ITPR3, PTPN11	0.85
738	Esophageal cancer	Enrichment	RNF6	0.84
739	Prader-willi syndrome	Enrichment	HERC2	0.84
740	Coats disease	Enrichment	RNF14	0.84
741	Congenital hydrocephalus	Enrichment	TRIM71	0.84
742	Moyamoya angiopathy	Enrichment	RNF213	0.84
743	Leukemia, acute lymphoblastic 3	Enrichment	PALB2	0.84
744	Progressive non-fluent aphasia	Enrichment	VCP	0.84
745	Colonic benign neoplasm	Enrichment	PALB2	0.84
746	Scoliosis	Enrichment	COL2A1, CTSK, PTPN11	0.83
747	Mccune-albright syndrome	Enrichment	COL2A1	0.80
748	Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss	Enrichment	TUBB1	0.80
749	Pelvic organ prolapse	Enrichment	TAB2	0.80
750	Spondyloepiphyseal dysplasia congenita	Enrichment	COL2A1	0.80
751	Gillespie syndrome	Enrichment	ITPR1	0.80
752	Pompe disease, infantile-onset	Enrichment	PIK3CA	0.80
753	Nuchal bleb, familial	Enrichment	SOS1	0.80
754	Myopathy, centronuclear, x-linked	Enrichment	DNM2	0.80
755	Langerhans cell histiocytosis	Enrichment	NRAS	0.80
756	Leukodystrophy, hypomyelinating, 6	Enrichment	TUBB4A	0.80
757	Nasopharyngeal carcinoma	Enrichment	NFKBIA	0.80
758	Caffey disease	Enrichment	COL1A1	0.80
759	Neutrophilic dermatosis, acute febrile	Enrichment	PTPN6	0.80
760	Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation	Enrichment	CTLA4	0.80
761	Oocyte/zygote/embryo maturation arrest 2	Enrichment	TUBB8	0.80
762	Cortical dysplasia, complex, with other brain malformations 5	Enrichment	TUBB2A	0.80
763	Intellectual developmental disorder, autosomal dominant 56	Enrichment	CLTC	0.80
764	Developmental and epileptic encephalopathy 31b	Enrichment	DNM1	0.80
765	Nail disorder, nonsyndromic congenital, 9	Enrichment	CTSK	0.80
766	Asparagine synthetase deficiency	Enrichment	CTLA4	0.80
767	Xanthinuria, type ii	Enrichment	XDH	0.80
768	Frontometaphyseal dysplasia	Enrichment	MAP3K7	0.80
769	Laryngeal squamous cell carcinoma	Enrichment	PTEN	0.80
770	Spermatocytoma	Enrichment	HRAS	0.80
771	Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome	Enrichment	CTLA4	0.80
772	Aggressive periodontitis	Enrichment	CTSC	0.80
773	Tricuspid valve insufficiency	Enrichment	PTPN11	0.80
774	Genetic atypical hemolytic-uremic syndrome	Enrichment	C3	0.80
775	Multiple epiphyseal dysplasia	Enrichment	COL2A1	0.80
776	Keratoacanthoma	Enrichment	PIK3CA	0.80
777	Lynch syndrome 1	Enrichment	PALB2	0.80
778	Neurodegeneration with brain iron accumulation	Enrichment	DCAF17	0.80
779	Nemaline myopathy	Enrichment	KLHL41	0.80
780	Mitochondrial encephalomyopathy	Enrichment	FBXL4	0.80
781	Progressive myoclonus epilepsy	Enrichment	KCTD7	0.80
782	Neuroblastoma	Enrichment	HACE1	0.79
783	Aortic valve disease 1	Enrichment	SOS1, TAB2	0.79
784	Osteogenesis imperfecta, type iv	Enrichment	COL1A1, COL1A2	0.79
785	Nk-cell enteropathy	Enrichment	CUL3, PIK3CB	0.79
786	Gastric cancer	Enrichment	BRCA1, PALB2	0.77
787	Xeroderma pigmentosum, variant type	Enrichment	DDB2	0.76
788	Hydrops fetalis, nonimmune	Enrichment	CTSA, HRAS, PTPN11	0.76
789	Thrombophilia due to thrombin defect	Enrichment	FGA	0.75
790	Essential thrombocythemia	Enrichment	CALR	0.75
791	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	Enrichment	HLA-C	0.75
792	Limb-girdle muscular dystrophy	Enrichment	TRIM32	0.74
793	Lung cancer susceptibility 3	Enrichment	KRAS, PRKN	0.74
794	Periventricular nodular heterotopia	Enrichment	ARF1, NEDD4L	0.74
795	Seckel syndrome	Enrichment	CENPE, TRAIP	0.74
796	Non-syndromic x-linked intellectual disability	Enrichment	HUWE1, RLIM	0.73
797	Digeorge syndrome	Enrichment	UFD1	0.73
798	Charcot-marie-tooth disease	Enrichment	DCTN1, DNM2, DYNC1H1, LRSAM1	0.71
799	Nephrocalcinosis	Enrichment	RNF213	0.70
800	Lymphoma, non-hodgkin, familial	Enrichment	B2M	0.70
801	Acute promyelocytic leukemia	Enrichment	ZBTB16	0.70
802	Alzheimer's disease	Enrichment	VCP	0.70
803	Undetermined early-onset epileptic encephalopathy	Enrichment	CLTC, DNM1, FZR1, PPP3CA, UBA5	0.69
804	Renal cell carcinoma, nonpapillary	Enrichment	MTOR, VHL	0.69
805	Osteogenesis imperfecta, type iii	Enrichment	COL1A1, COL1A2	0.69
806	Lynch syndrome	Enrichment	KRAS, PIK3CA	0.69
807	Cardiofaciocutaneous syndrome 1	Enrichment	KRAS	0.69
808	Diffuse gastric and lobular breast cancer syndrome	Enrichment	KRAS	0.69
809	Phenylketonuria	Enrichment	COL1A1	0.69
810	Focal cortical dysplasia, type ii	Enrichment	MTOR	0.69
811	Retinitis pigmentosa 26	Enrichment	ITGA4	0.69
812	Myopathy, autophagic vacuolar, infantile-onset	Enrichment	STIM1	0.69
813	Spinocerebellar ataxia 15	Enrichment	ITPR1	0.69
814	Cardiofaciocutaneous syndrome	Enrichment	KRAS	0.69
815	Lung sarcomatoid carcinoma	Enrichment	KRAS	0.69
816	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1	Enrichment	CLTC	0.69
817	Pilocytic astrocytoma	Enrichment	KRAS	0.69
818	Corneal dystrophy	Enrichment	COL17A1	0.69
819	Epidermolytic nevus	Enrichment	HRAS	0.69
820	Familial cerebral cavernous malformations	Enrichment	PIK3CA	0.69
821	Knobloch syndrome	Enrichment	PAK2	0.69
822	Systemic-onset juvenile idiopathic arthritis	Enrichment	HLA-DRB1	0.69
823	Isolated focal cortical dysplasia type ii	Enrichment	MTOR	0.69
824	Glioma	Enrichment	PTEN	0.69
825	Gingival fibromatosis	Enrichment	SOS1	0.69
826	Pheochromocytoma	Enrichment	VHL	0.67
827	Myoclonic epilepsy of unverricht and lundborg	Enrichment	KCTD7	0.67
828	Differentiated thyroid carcinoma	Enrichment	HRAS, KRAS, NRAS	0.66
829	Cardiomyopathy, familial hypertrophic, 4	Enrichment	NCF1	0.65
830	Rheumatoid arthritis	Enrichment	TLR1	0.65
831	Coronary heart disease 5	Enrichment	IKBKG	0.65
832	Rhabdomyosarcoma	Enrichment	HRAS, PTEN	0.65
833	Early-onset parkinson's disease	Enrichment	PRKN	0.63
834	Breast cancer	Enrichment	AKT1, DCTN5, KLC1, KRAS, PIK3CA, PTEN	0.62
835	Omenn syndrome	Enrichment	PSMB10	0.61
836	Hereditary breast ovarian cancer syndrome	Enrichment	BRCA1, PALB2	0.61
837	Ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant	Enrichment	TRAF6	0.60
838	Capillary malformations, congenital	Enrichment	PIK3CA	0.60
839	Retinal detachment	Enrichment	COL2A1	0.60
840	Hydatidiform mole, recurrent, 1	Enrichment	NCR1	0.60
841	Kearns-sayre syndrome	Enrichment	KIF5B	0.60
842	Macrocephaly/autism syndrome	Enrichment	PTEN	0.60
843	Knobloch syndrome 1	Enrichment	PAK2	0.60
844	Developmental and epileptic encephalopathy 31a	Enrichment	DNM1	0.60
845	Follicular lymphoma	Enrichment	HLA-DRB1	0.60
846	Lymphoma	Enrichment	PTPN11	0.60
847	Spinal muscular atrophy	Enrichment	DYNC1H1	0.60
848	Acute megakaryocytic leukemia	Enrichment	PTEN	0.60
849	Female infertility due to oocyte meiotic arrest	Enrichment	TUBB8	0.60
850	Genetic motor neuron disease	Enrichment	DCTN1	0.60
851	Diffuse cutaneous systemic sclerosis	Enrichment	HLA-DRB1	0.60
852	Familial cerebral saccular aneurysm	Enrichment	COL3A1	0.60
853	Alzheimer disease, familial, 1	Enrichment	VCP	0.59
854	Cleft palate, isolated	Enrichment	AMER1	0.59
855	Developmental and epileptic encephalopathy	Enrichment	SEC24C, UBA5	0.58
856	Mhc class ii deficiency 1	Enrichment	TAP2	0.58
857	Asthma	Enrichment	HLA-G	0.58
858	Peripheral nervous system disease	Enrichment	DYNC1H1, GAN, KIF5A	0.58
859	Neuropathy	Enrichment	DYNC1H1, GAN, KIF5A	0.58
860	Human immunodeficiency virus type 1	Enrichment	CD209, HLA-C	0.57
861	Neuropathy, hereditary motor and sensory, okinawa type	Enrichment	VCP	0.55
862	Klippel-trenaunay-weber syndrome	Enrichment	PIK3CA	0.53
863	Myopathy, centronuclear, 1	Enrichment	DNM2	0.53
864	Epidermolysis bullosa, junctional 1a, intermediate	Enrichment	COL17A1	0.53
865	Cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1	Enrichment	TUBB2B	0.53
866	Hemihyperplasia, isolated	Enrichment	PIK3CA	0.53
867	Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy	Enrichment	CALM1	0.53
868	Inflammatory myofibroblastic tumor	Enrichment	CLTC	0.53
869	Junctional epidermolysis bullosa non-herlitz type	Enrichment	COL17A1	0.53
870	Keratoconus	Enrichment	COL1A1	0.53
871	Early myoclonic encephalopathy	Enrichment	TUBA1A	0.53
872	Limited scleroderma	Enrichment	HLA-DRB1	0.53
873	Multicystic kidney dysplasia	Enrichment	KIF4A	0.53
874	Syndromic rod-cone dystrophy	Enrichment	KIF11	0.53
875	Multicystic dysplastic kidney	Enrichment	KIF4A	0.53
876	Atypical hemolytic uremic syndrome with complement gene abnormality	Enrichment	C3	0.53
877	Creatine phosphokinase, elevated serum	Enrichment	TRIM32	0.53
878	Isolated elevated serum creatine phosphokinase levels	Enrichment	TRIM32	0.53
879	Hereditary paraganglioma-pheochromocytoma syndromes	Enrichment	VHL	0.52
880	Autosomal dominant non-syndromic intellectual disability	Enrichment	CLTC, DYNC1H1, PPP3CA, YWHAZ	0.51
881	Myocardial infarction	Enrichment	PSMA6	0.50
882	Precursor t-cell acute lymphoblastic leukemia	Enrichment	ZBTB16	0.48
883	Squamous cell carcinoma, head and neck	Enrichment	PTEN	0.48
884	Semantic dementia	Enrichment	TREM2	0.48
885	Renal cell carcinoma with mit translocations	Enrichment	CLTC	0.48
886	Megacolon	Enrichment	AKT3	0.48
887	Early-onset autosomal dominant alzheimer disease	Enrichment	TREM2	0.48
888	Familial isolated restrictive cardiomyopathy	Enrichment	KIF20A	0.48
889	Autosomal recessive limb-girdle muscular dystrophy	Enrichment	TRIM32	0.47
890	Parkinson's disease	Enrichment	PRKN	0.47
891	Autosomal recessive non-syndromic intellectual disability	Enrichment	FBXO31, UBE4A	0.44
892	Lennox-gastaut syndrome	Enrichment	DNM1	0.43
893	Cryptorchidism	Enrichment	TUBA1A	0.43
894	Catecholaminergic polymorphic ventricular tachycardia 1	Enrichment	CALM1	0.43
895	Brittle bone disorder	Enrichment	COL1A1, COL1A2	0.43
896	Cerebral palsy	Enrichment	KLHL3, TUBA1A, TUBB4A	0.43
897	Polycystic liver disease	Enrichment	SEC61A1	0.42
898	Autosomal dominant polycystic liver disease	Enrichment	SEC61A1	0.42
899	Myopathy	Enrichment	DNM2, DYNC1H1, TRIM32	0.41
900	Autoinflammatory disease	Enrichment	PSMB8, SH2D1A	0.41
901	Inherited cancer-predisposing syndrome	Enrichment	BRCA1, PALB2, VHL	0.40
902	Cryptorchidism, unilateral or bilateral	Enrichment	TUBA1A	0.39
903	Myoclonic-atonic epilepsy	Enrichment	AP2M1	0.39
904	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	Enrichment	RAC1	0.39
905	Adult hepatocellular carcinoma	Enrichment	PIK3CA	0.39
906	Junctional epidermolysis bullosa	Enrichment	COL17A1	0.39
907	Familial thoracic aortic aneurysm and dissection	Enrichment	COL3A1	0.39
908	Parkinson disease, late-onset	Enrichment	PRKN	0.39
909	Autism spectrum disorder	Enrichment	ARIH2, CUL3, PRKN	0.37
910	Williams-beuren syndrome	Enrichment	NCF1	0.37
911	Auditory neuropathy	Enrichment	KIF5A, TUBB4A	0.37
912	Hypertrophic cardiomyopathy	Enrichment	KIF5B, PTPN11, TRIM63	0.36
913	Amyotrophic lateral sclerosis 1	Enrichment	DCTN1	0.36
914	Marfan syndrome	Enrichment	COL2A1	0.36
915	Amelogenesis imperfecta, type ie	Enrichment	COL17A1	0.36
916	Ciliary dyskinesia, primary, 3	Enrichment	NFKB1	0.36
917	Stickler syndrome	Enrichment	COL2A1	0.36
918	Melanoma	Enrichment	PTEN	0.36
919	Leigh syndrome, nuclear	Enrichment	FBXL4, UBOX5	0.35
920	Familial thoracic aortic aneurysm and aortic dissection	Enrichment	COL1A1, COL3A1, PRKG1	0.35
921	Migraine with or without aura 1	Enrichment	TAB2	0.33
922	Pectus excavatum	Enrichment	PTPN11	0.33
923	Immune deficiency disease	Enrichment	SYK	0.33
924	Meningioma, familial	Enrichment	PTEN	0.33
925	Specific learning disability	Enrichment	PTPN11	0.33
926	Mitochondrial complex i deficiency, nuclear type 1	Enrichment	ERCC8	0.32
927	Leigh disease	Enrichment	FBXL4, UBOX5	0.30
928	Epicanthus	Enrichment	PTPN11	0.30
929	Short-rib thoracic dysplasia 3 with or without polydactyly	Enrichment	DYNC1H1	0.30
930	Congenital hypothyroidism	Enrichment	TUBB1	0.30
931	Ovarian cancer	Enrichment	BRCA1, PALB2	0.28
932	Long qt syndrome	Enrichment	CALM1, CALM2	0.28
933	Neural tube defects	Enrichment	ITGB1	0.28
934	Amelogenesis imperfecta	Enrichment	COL17A1	0.28
935	Stereotypic movement disorder	Enrichment	DNM1	0.28
936	Protein-deficiency anemia	Enrichment	NRAS	0.28
937	Microcephaly	Enrichment	DYNC1H1, KIF11, KIF23, PAK3, PSMC3, PTPN11, TUBB4A	0.27
938	Left ventricular noncompaction	Enrichment	MIB2	0.27
939	Dystonia	Enrichment	RNF14	0.27
940	Aortic aneurysm, familial thoracic 1	Enrichment	COL3A1	0.26
941	46,xy partial gonadal dysgenesis	Enrichment	SOS1	0.26
942	Isolated macular dystrophy	Enrichment	ITGA4	0.26
943	Corpus callosum, agenesis of	Enrichment	TUBA1A	0.24
944	Hydrocephalus	Enrichment	KIF4A	0.24
945	Myopia	Enrichment	COL2A1	0.24
946	Anterior segment dysgenesis	Enrichment	ITPR1	0.24
947	Atypical hemolytic-uremic syndrome	Enrichment	C3	0.24
948	Isolated corpus callosum agenesis	Enrichment	TUBA1A	0.24
949	Rare genetic intellectual disability	Enrichment	MTOR	0.24
950	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	Enrichment	TUBA1A	0.24
951	Body mass index quantitative trait locus 11	Enrichment	FBXO11	0.24
952	Hydrocephalus, congenital, 1	Enrichment	KIF4A	0.22
953	Gliosarcoma	Enrichment	NFKBIA	0.22
954	Isolated congenital microcephaly	Enrichment	TUBA3E	0.22
955	Bardet-biedl syndrome	Enrichment	TRIM32	0.22
956	Dandy-walker syndrome	Enrichment	TUBA1A	0.20
957	Sudden infant death syndrome	Enrichment	CALM2	0.20
958	Giant cell glioblastoma	Enrichment	NFKBIA	0.20
959	Primary ovarian insufficiency	Enrichment	LRRC41	0.19
960	Heart, malformation of	Enrichment	COL2A1	0.19
961	Charcot-marie-tooth disease type 4	Enrichment	DYNC1H1	0.19
962	Leukemia, acute myeloid	Enrichment	KRAS, NRAS	0.18
963	Arteriovenous malformations of the brain	Enrichment	KRAS	0.18
964	Maturity-onset diabetes of the young	Enrichment	BLK	0.16
965	Cardiomyopathy, dilated, 1a	Enrichment	NFATC2	0.15
966	Centronuclear myopathy	Enrichment	DNM2	0.15
967	Male infertility with azoospermia or oligozoospermia due to single gene mutation	Enrichment	HUWE1	0.15
968	West syndrome	Enrichment	DNM1, TUBA1A	0.15
969	Congenital nervous system abnormality	Enrichment	DYNC1H1, HECW2, PTEN, TUBA1A, TUBB4A	0.15
970	Nervous system disease	Enrichment	DYNC1H1, HECW2, PTEN, TUBA1A, TUBB4A	0.15
971	Hepatocellular carcinoma	Enrichment	PIK3CA	0.14
972	Attention deficit-hyperactivity disorder	Enrichment	KIF5B	0.14
973	Skin disease	Enrichment	COL17A1	0.14
974	Schizophrenia	Enrichment	PRKN	0.14
975	Sensorineural hearing loss	Enrichment	STX4	0.13
976	Cardiomyopathy, familial hypertrophic, 1	Enrichment	RAF1	0.13
977	Strabismus	Enrichment	PTPN11	0.10
978	Hypertelorism	Enrichment	COL1A1, PIK3CA	0.10
979	Autism	Enrichment	PRKN	0.10
980	Spastic ataxia	Enrichment	ITPR1, TUBB3	0.09
981	Stargardt disease 1	Enrichment	COL2A1	0.08
982	Myeloma, multiple	Enrichment	KRAS, PIK3R2	0.08
983	Dilated cardiomyopathy	Enrichment	KIF5B, RAF1, TAB2	0.08
984	Cystic fibrosis	Enrichment	DCTN4	0.07
985	Primary autosomal recessive microcephaly	Enrichment	CENPE	0.07
986	Connective tissue disease	Enrichment	COL2A1	0.07
987	Familial hypertrophic cardiomyopathy	Enrichment	RAF1	0.07
988	Fetal akinesia deformation sequence 1	Enrichment	TUBA1A	0.05
989	Type 2 diabetes mellitus	Enrichment	AKT2	0.04
990	Hereditary spastic paraplegia	Enrichment	KIF5A	0.04
991	Optic atrophy plus syndrome	Enrichment	TUBB6	0.04
992	Familial isolated dilated cardiomyopathy	Enrichment	RAF1	0.02
993	Cone-rod dystrophy 2	Enrichment	ITGA4	0.01
994	Hereditary retinal dystrophy	Enrichment	TRIM32, UBR2	0.01
995	Fundus dystrophy	Enrichment	TRIM32, UBR2	0.01
996	Leber plus disease	Enrichment	TUBB4B	0.00
997	Retinitis pigmentosa	Enrichment	KIF11	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

Class I MHC mediated antigen processing and presentation

Pathway Network for Class I MHC mediated antigen processing and presentation

Pathway network for the Class I MHC mediated antigen processing and presentation SuperPath

Member Pathways for Class I MHC mediated antigen processing and presentation

Pathways in the Class I MHC mediated antigen processing and presentation SuperPath

Gene overlap in member pathways for Class I MHC mediated antigen processing and presentation SuperPath

Associated Genes for Class I MHC mediated antigen processing and presentation

Associated Disorders for Class I MHC mediated antigen processing and presentation

Disorders associated with Class I MHC mediated antigen processing and presentation SuperPath

STRING Interaction Network for Class I MHC mediated antigen processing and presentation

Sources for Class I MHC mediated antigen processing and presentation