Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hemorrhagic Telangiectasia, Hereditary ENG disease C0039445 Biomarker 1 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ENG disease C0039445 AlteredExpression 1 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ENG disease C0039445 GeneticVariation 1 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ENG disease C0039445 CausalMutation 1 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ACVRL1 disease C0039445 GeneticVariation 0.6 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ACVRL1 disease C0039445 AlteredExpression 0.6 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary ACVRL1 disease C0039445 Biomarker 0.6 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary GDF2 disease C0039445 GeneticVariation 0.54 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary GDF2 disease C0039445 GermlineCausalMutation 0.54 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary GDF2 disease C0039445 Biomarker 0.54 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary GDF2 disease C0039445 AlteredExpression 0.54 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary SMAD4 disease C0039445 Biomarker 0.4 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary SMAD4 disease C0039445 GeneticVariation 0.4 orphanet , disgenet
Hemorrhagic Telangiectasia, Hereditary SLPI disease C0039445 Biomarker 0.1 disgenet
Hemorrhagic Telangiectasia, Hereditary SLPI disease C0039445 AlteredExpression 0.1 disgenet
Hemorrhagic Telangiectasia, Hereditary SLPI disease C0039445 GeneticVariation 0.1 disgenet
Hemorrhagic Telangiectasia, Hereditary BMPR2 disease C0039445 Biomarker 0.08 disgenet
Hemorrhagic Telangiectasia, Hereditary BMPR2 disease C0039445 GeneticVariation 0.08 disgenet
Hemorrhagic Telangiectasia, Hereditary VEGFA disease C0039445 Biomarker 0.07 disgenet
Hemorrhagic Telangiectasia, Hereditary VEGFA disease C0039445 AlteredExpression 0.07 disgenet
Hemorrhagic Telangiectasia, Hereditary CAV1 disease C0039445 GeneticVariation 0.02 disgenet
Hemorrhagic Telangiectasia, Hereditary CAV1 disease C0039445 Biomarker 0.02 disgenet
Hemorrhagic Telangiectasia, Hereditary KCNK3 disease C0039445 GeneticVariation 0.02 disgenet
Hemorrhagic Telangiectasia, Hereditary KCNK3 disease C0039445 Biomarker 0.02 disgenet
Hemorrhagic Telangiectasia, Hereditary ANGPT2 disease C0039445 Biomarker 0.02 disgenet
Hemorrhagic Telangiectasia, Hereditary MIR361 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary CASP3 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PIK3CB disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary CASP9 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MAA disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary ATM disease C0039445 GeneticVariation 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PLF disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MTOR disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MIR27A disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MIR210 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PTPN14 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MIR28 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary SMAD1 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary EGFR disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary NFE2L2 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary TGFB1 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary SCN8A disease C0039445 GeneticVariation 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary IL6 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary GABPA disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary TGFB2 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary BRAF disease C0039445 GeneticVariation 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary THBD disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PIK3CA disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PIK3CD disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PTX3 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary IGF1 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary MIR205 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary FLT1 disease C0039445 AlteredExpression 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary RASA1 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary COL5A1 disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary PIK3CG disease C0039445 Biomarker 0.01 disgenet
Hemorrhagic Telangiectasia, Hereditary CYP2D6 disease C0039445 GeneticVariation 0.01 disgenet
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