Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sveinsson Chorioretinal Atrophy TEAD1 disease C1862382 GermlineCausalMutation 0.73 orphanet , disgenet
Sveinsson Chorioretinal Atrophy TEAD1 disease C1862382 CausalMutation 0.73 orphanet , disgenet
Sveinsson Chorioretinal Atrophy TEAD1 disease C1862382 Biomarker 0.73 orphanet , disgenet
Sveinsson Chorioretinal Atrophy TEAD1 disease C1862382 GeneticVariation 0.73 orphanet , disgenet
Sveinsson Chorioretinal Atrophy EGFR disease C1862382 Biomarker 0.04 disgenet
Sveinsson Chorioretinal Atrophy EGFR disease C1862382 GeneticVariation 0.04 disgenet
Sveinsson Chorioretinal Atrophy PTPN22 disease C1862382 GeneticVariation 0.03 disgenet
Sveinsson Chorioretinal Atrophy KLK3 disease C1862382 Biomarker 0.03 disgenet
Sveinsson Chorioretinal Atrophy IFNG disease C1862382 AlteredExpression 0.03 disgenet
Sveinsson Chorioretinal Atrophy CDKN2A disease C1862382 Biomarker 0.03 disgenet
Sveinsson Chorioretinal Atrophy TNF disease C1862382 AlteredExpression 0.03 disgenet
Sveinsson Chorioretinal Atrophy CDKN2A disease C1862382 AlteredExpression 0.03 disgenet
Sveinsson Chorioretinal Atrophy KLK3 disease C1862382 GeneticVariation 0.03 disgenet
Sveinsson Chorioretinal Atrophy IFNG disease C1862382 Biomarker 0.03 disgenet
Sveinsson Chorioretinal Atrophy TNF disease C1862382 Biomarker 0.03 disgenet
Sveinsson Chorioretinal Atrophy TNF disease C1862382 GeneticVariation 0.03 disgenet
Sveinsson Chorioretinal Atrophy CDKN2A disease C1862382 PosttranslationalModification 0.03 disgenet
Sveinsson Chorioretinal Atrophy VEGFA disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy IFNA1 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy NPEPPS disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy FAS disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy H3P10 disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy RETN disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy IL17A disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy PSAT1 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy PSAT1 disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy IL10 disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy CCL5 disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy IL10 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy HLA-DRB1 disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy CCL5 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy PLAG1 disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy PLAG1 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy VEGFA disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy NPEPPS disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy FAS disease C1862382 AlteredExpression 0.02 disgenet
Sveinsson Chorioretinal Atrophy PROS1 disease C1862382 GeneticVariation 0.02 disgenet
Sveinsson Chorioretinal Atrophy IFNA13 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy PROS1 disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy IL17A disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy GCG disease C1862382 Biomarker 0.02 disgenet
Sveinsson Chorioretinal Atrophy H3P10 disease C1862382 PosttranslationalModification 0.02 disgenet
Sveinsson Chorioretinal Atrophy MSH2 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PIK3CB disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy TGFB3 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy SBF2 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy ACTR2 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy GPNMB disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL6 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy MAPK1 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy RPE disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy EDNRA disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy CTLA4 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy FOXO1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy PIK3CD disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy CCNB1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy VDR disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy SYCP1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy GPX3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PSG2 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy NPTX1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy MRC1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy EBF1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy HLA-DQB2 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy POMC disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy KDM2A disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy MIR21 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CXCL10 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy PDE4A disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy PSG8 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy ERBB2 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CYP1B1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PSG7 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy FCGR3A disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy CYP2C19 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy PRTN3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy IGFBP4 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy SHC3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy MC2R disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy HSPA1B disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy APOA1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy MIR130B disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy ENO2 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL23A disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy LINC01193 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy ICOSLG disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy CRP disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy EPHB2 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy UCN3 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL4 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy STAT1 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy DLG4 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CAT disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CDR3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PIK3CG disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy CTDSP1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy HLA-DQB1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy TERT disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy SCPEP1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy MPO disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy MMP9 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy SPP1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CHGA disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy NCF1 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy CXCL12 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy PTOV1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy BRCA1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy SREBF1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL2RA disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy BDNF disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy MAPK3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy CCL3 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy NRP1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy GNAO1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy MIR182 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy SOD1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy TCIRG1 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL1RN disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy MLH1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy GDF1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL16 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy HLA-DQA1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy CDC42 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy AR disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy ACTB disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy APOD disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy EGF disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy ATP8B4 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy IGF2R disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy TNC disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PPP1R13L disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy OPRM1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy MIR27A disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy PDGFRA disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IL2 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CASP12 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy MIR152 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy ESRRA disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy GAD1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy PCSK7 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy RNH1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy TTR disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy CASP3 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy MGMT disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy SLC5A8 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy ODC1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy CD274 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IGF1R disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy SNCA disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IRS1 disease C1862382 PosttranslationalModification 0.01 disgenet
Sveinsson Chorioretinal Atrophy PDCD1LG2 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy IDS disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy TRBV20OR9-2 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy PIK3CA disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy FOXO3 disease C1862382 AlteredExpression 0.01 disgenet
Sveinsson Chorioretinal Atrophy GLI1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy VKORC1 disease C1862382 Biomarker 0.01 disgenet
Sveinsson Chorioretinal Atrophy SLC50A1 disease C1862382 GeneticVariation 0.01 disgenet
Sveinsson Chorioretinal Atrophy PSG1 disease C1862382 AlteredExpression 0.01 disgenet
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