Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Infantile Spasm CDKL5 disease C0037769 Biomarker 0.5 orphanet , disgenet
Infantile Spasm CDKL5 disease C0037769 GermlineCausalMutation 0.5 orphanet , disgenet
Infantile Spasm ARX disease C0037769 GeneticVariation 0.5 orphanet , disgenet
Infantile Spasm CDKL5 disease C0037769 GeneticVariation 0.5 orphanet , disgenet
Infantile Spasm ARX disease C0037769 GermlineCausalMutation 0.5 orphanet , disgenet
Infantile Spasm ARX disease C0037769 Biomarker 0.5 orphanet , disgenet
Infantile Spasm STXBP1 disease C0037769 GermlineCausalMutation 0.49 disgenet
Infantile Spasm STXBP1 disease C0037769 Biomarker 0.49 disgenet
Infantile Spasm STXBP1 disease C0037769 GeneticVariation 0.49 disgenet
Infantile Spasm TSC2 disease C0037769 Biomarker 0.47 disgenet
Infantile Spasm TSC2 disease C0037769 GeneticVariation 0.47 disgenet
Infantile Spasm SCN2A disease C0037769 GermlineCausalMutation 0.46 orphanet , disgenet
Infantile Spasm SPTAN1 disease C0037769 Biomarker 0.46 orphanet , disgenet
Infantile Spasm SCN2A disease C0037769 Biomarker 0.46 orphanet , disgenet
Infantile Spasm SCN2A disease C0037769 GeneticVariation 0.46 orphanet , disgenet
Infantile Spasm SPTAN1 disease C0037769 GermlineCausalMutation 0.46 orphanet , disgenet
Infantile Spasm SPTAN1 disease C0037769 GeneticVariation 0.46 orphanet , disgenet
Infantile Spasm GRIN2B disease C0037769 GermlineCausalMutation 0.42 orphanet , disgenet
Infantile Spasm GRIN2B disease C0037769 Biomarker 0.42 orphanet , disgenet
Infantile Spasm GRIN2B disease C0037769 GeneticVariation 0.42 orphanet , disgenet
Infantile Spasm ST3GAL3 disease C0037769 GeneticVariation 0.42 orphanet , disgenet
Infantile Spasm ST3GAL3 disease C0037769 Biomarker 0.42 orphanet , disgenet
Infantile Spasm ST3GAL3 disease C0037769 GermlineCausalMutation 0.42 orphanet , disgenet
Infantile Spasm CNPY3 disease C0037769 GermlineCausalMutation 0.41 orphanet , disgenet
Infantile Spasm CNPY3 disease C0037769 GeneticVariation 0.41 orphanet , disgenet
Infantile Spasm SIK1 disease C0037769 GermlineCausalMutation 0.41 orphanet , disgenet
Infantile Spasm SIK1 disease C0037769 GeneticVariation 0.41 orphanet , disgenet
Infantile Spasm SIK1 disease C0037769 Biomarker 0.41 orphanet , disgenet
Infantile Spasm PHACTR1 disease C0037769 Biomarker 0.41 orphanet , disgenet
Infantile Spasm PLCB1 disease C0037769 Biomarker 0.41 orphanet , disgenet
Infantile Spasm CNPY3 disease C0037769 Biomarker 0.41 orphanet , disgenet
Infantile Spasm PLCB1 disease C0037769 GermlineCausalMutation 0.41 orphanet , disgenet
Infantile Spasm PHACTR1 disease C0037769 GermlineCausalMutation 0.41 orphanet , disgenet
Infantile Spasm PHACTR1 disease C0037769 GeneticVariation 0.41 orphanet , disgenet
Infantile Spasm PLCB1 disease C0037769 GeneticVariation 0.41 orphanet , disgenet
Infantile Spasm POMC disease C0037769 AlteredExpression 0.4 disgenet
Infantile Spasm PIGA disease C0037769 Biomarker 0.4 orphanet , disgenet
Infantile Spasm POMC disease C0037769 Therapeutic 0.4 disgenet
Infantile Spasm POMC disease C0037769 GeneticVariation 0.4 disgenet
Infantile Spasm POMC disease C0037769 Biomarker 0.4 disgenet
Infantile Spasm PIGA disease C0037769 GermlineCausalMutation 0.4 orphanet , disgenet
Infantile Spasm GUF1 disease C0037769 Biomarker 0.4 orphanet , disgenet
Infantile Spasm GUF1 disease C0037769 GermlineCausalMutation 0.4 orphanet , disgenet
Infantile Spasm NTRK2 disease C0037769 Biomarker 0.4 orphanet , disgenet
Infantile Spasm NTRK2 disease C0037769 GermlineCausalMutation 0.4 orphanet , disgenet
Infantile Spasm MAGI2 disease C0037769 Biomarker 0.34 disgenet
Infantile Spasm MAGI2 disease C0037769 GeneticVariation 0.34 disgenet
Infantile Spasm TSC1 disease C0037769 GeneticVariation 0.33 disgenet
Infantile Spasm TSC1 disease C0037769 Biomarker 0.33 disgenet
Infantile Spasm WDR45 disease C0037769 GermlineCausalMutation 0.32 orphanet , disgenet
Infantile Spasm WDR45 disease C0037769 GeneticVariation 0.32 orphanet , disgenet
Infantile Spasm CRH disease C0037769 Biomarker 0.32 disgenet
Infantile Spasm CRH disease C0037769 AlteredExpression 0.32 disgenet
Infantile Spasm HSD17B4 disease C0037769 Biomarker 0.31 disgenet
Infantile Spasm TBCD disease C0037769 Biomarker 0.3 disgenet
Infantile Spasm UPB1 disease C0037769 Biomarker 0.3 disgenet
Infantile Spasm AIMP2 disease C0037769 Biomarker 0.3 disgenet
Infantile Spasm ABAT disease C0037769 Biomarker 0.21 disgenet
Infantile Spasm ABAT disease C0037769 Therapeutic 0.21 disgenet
Infantile Spasm CFL1 disease C0037769 Biomarker 0.2 disgenet
Infantile Spasm ND1 disease C0037769 GeneticVariation 0.12 disgenet
Infantile Spasm ND1 disease C0037769 Biomarker 0.12 disgenet
Infantile Spasm ALG13 disease C0037769 Biomarker 0.11 disgenet
Infantile Spasm ALG13 disease C0037769 CausalMutation 0.11 disgenet
Infantile Spasm ALG13 disease C0037769 GeneticVariation 0.11 disgenet
Infantile Spasm CASK disease C0037769 Biomarker 0.11 disgenet
Infantile Spasm SLC35A2 disease C0037769 GeneticVariation 0.11 disgenet
Infantile Spasm SLC35A2 disease C0037769 Biomarker 0.11 disgenet
Infantile Spasm TRIM8 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm NGLY1 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm HIBCH disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm ND6 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm IFNG disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm PNKP disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm ND4 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm TRNW disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm PIGQ disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm RFT1 disease C0037769 GeneticVariation 0.1 disgenet
Infantile Spasm ATP6 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm TRNV disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm GNAO1 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm ND2 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm CLCN4 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm ZNHIT3 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm SLC19A3 disease C0037769 Biomarker 0.1 orphanet , disgenet
Infantile Spasm ND3 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm PIGP disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm TUBA8 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm TRNL1 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm NEUROD2 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm SLC25A22 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm ND5 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm KIF1A disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm TRNK disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm KCNA1 disease C0037769 Biomarker 0.1 disgenet
Infantile Spasm KCNQ2 disease C0037769 GeneticVariation 0.03 disgenet
Infantile Spasm CRHR1 disease C0037769 GeneticVariation 0.03 disgenet
Infantile Spasm HTC2 disease C0037769 GeneticVariation 0.03 disgenet
Infantile Spasm HTC2 disease C0037769 Biomarker 0.03 disgenet
Infantile Spasm MECP2 disease C0037769 GeneticVariation 0.03 disgenet
Infantile Spasm CRHR1 disease C0037769 Biomarker 0.03 disgenet
Infantile Spasm GABRB3 disease C0037769 Biomarker 0.03 disgenet
Infantile Spasm GABRB3 disease C0037769 GeneticVariation 0.03 disgenet
Infantile Spasm CRHR1 disease C0037769 AlteredExpression 0.03 disgenet
Infantile Spasm KCNJ6 disease C0037769 AlteredExpression 0.02 disgenet
Infantile Spasm IARS2 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm PAFAH1B1 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm IARS2 disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm NR2F1 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm MC2R disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm TBC1D24 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm SCN1A disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm MC2R disease C0037769 AlteredExpression 0.02 disgenet
Infantile Spasm SCN1A disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm TBC1D24 disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm PIGW disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm HNRNPU disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm FOXG1 disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm NR3C1 disease C0037769 AlteredExpression 0.02 disgenet
Infantile Spasm NR3C1 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm NR2F1 disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm FOXG1 disease C0037769 GeneticVariation 0.02 disgenet
Infantile Spasm KCNJ6 disease C0037769 Biomarker 0.02 disgenet
Infantile Spasm GNB1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm TWIST1 disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm C5 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm MBD5 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm PTCH1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm CACNA2D1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm YWHAG disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm MEF2C disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm CPP disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm PTCH1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm DEPDC5 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm TBL1XR1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm GABRB2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm ARC disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm AARS1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm KCNT2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SLC6A4 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SKI disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm MC4R disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm KPNA7 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm KCNAB2 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm DLX5 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm PDHA1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm FGF12 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm GRIN2A disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm BTD disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm ABCB1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm ITGA2B disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm UBA5 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm RASGRF1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm GABRA1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm CSNK1E disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm GRIN1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm TCOF1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm PRRT2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SOS1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm CTNNB1 disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm KCNT1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm DPYS disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm APC disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm CHD2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm DNMT3A disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm AKT3 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SORCS3 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm LAMA2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm C5AR1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm HDAC4 disease C0037769 AlteredExpression 0.01 disgenet
Infantile Spasm PDCD6IP disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm PARS2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SCN3A disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm TLK2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm DCX disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm NGF disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm DLG3 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm TIMM50 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm ATXN2 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm PNPO disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm DNM1 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm FLNA disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm ACTB disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SPTBN2 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm FBN1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm KCNJ11 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm IGF1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm IL2RG disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm NDP disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm PPP1CB disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm RARS2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm WDR62 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm SLC1A4 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm ATG10 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm BRWD3 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm LINC02210-CRHR1 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm MTOR disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm ARFGEF2 disease C0037769 GeneticVariation 0.01 disgenet
Infantile Spasm FARS2 disease C0037769 Biomarker 0.01 disgenet
Infantile Spasm PMM2 disease C0037769 Biomarker 0.01 disgenet
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