Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Hypothyroidism DUOX2 disease C0010308 Biomarker 0.9 orphanet , disgenet
Congenital Hypothyroidism TPO disease C0010308 AlteredExpression 0.9 disgenet
Congenital Hypothyroidism TPO disease C0010308 GeneticVariation 0.9 disgenet
Congenital Hypothyroidism DUOX2 disease C0010308 GeneticVariation 0.9 orphanet , disgenet
Congenital Hypothyroidism TSHR disease C0010308 GeneticVariation 0.9 disgenet
Congenital Hypothyroidism TPO disease C0010308 Biomarker 0.9 disgenet
Congenital Hypothyroidism DUOX2 disease C0010308 CausalMutation 0.9 orphanet , disgenet
Congenital Hypothyroidism TSHR disease C0010308 CausalMutation 0.9 disgenet
Congenital Hypothyroidism TSHR disease C0010308 Biomarker 0.9 disgenet
Congenital Hypothyroidism TSHR disease C0010308 AlteredExpression 0.9 disgenet
Congenital Hypothyroidism FOXE1 disease C0010308 GeneticVariation 0.7 disgenet
Congenital Hypothyroidism FOXE1 disease C0010308 Biomarker 0.7 disgenet
Congenital Hypothyroidism PAX8 disease C0010308 Biomarker 0.7 disgenet
Congenital Hypothyroidism PAX8 disease C0010308 AlteredExpression 0.7 disgenet
Congenital Hypothyroidism PAX8 disease C0010308 GeneticVariation 0.7 disgenet
Congenital Hypothyroidism TG disease C0010308 GeneticVariation 0.6 disgenet
Congenital Hypothyroidism TG disease C0010308 AlteredExpression 0.6 disgenet
Congenital Hypothyroidism TG disease C0010308 Biomarker 0.6 disgenet
Congenital Hypothyroidism GLIS3 disease C0010308 Biomarker 0.5 orphanet , disgenet
Congenital Hypothyroidism NKX2-1 disease C0010308 GeneticVariation 0.5 disgenet
Congenital Hypothyroidism GLIS3 disease C0010308 GeneticVariation 0.5 orphanet , disgenet
Congenital Hypothyroidism NKX2-1 disease C0010308 AlteredExpression 0.5 disgenet
Congenital Hypothyroidism NKX2-1 disease C0010308 Biomarker 0.5 disgenet
Congenital Hypothyroidism IGSF1 disease C0010308 Biomarker 0.5 orphanet , disgenet
Congenital Hypothyroidism TSHB disease C0010308 Biomarker 0.4 disgenet
Congenital Hypothyroidism IYD disease C0010308 Biomarker 0.34 disgenet
Congenital Hypothyroidism IYD disease C0010308 GeneticVariation 0.34 disgenet
Congenital Hypothyroidism POU1F1 disease C0010308 GeneticVariation 0.32 disgenet
Congenital Hypothyroidism POU1F1 disease C0010308 Biomarker 0.32 disgenet
Congenital Hypothyroidism CDCA8 disease C0010308 Biomarker 0.3 disgenet
Congenital Hypothyroidism TRHR disease C0010308 Biomarker 0.21 disgenet
Congenital Hypothyroidism TRHR disease C0010308 GeneticVariation 0.21 disgenet
Congenital Hypothyroidism PPARGC1A disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism INHBB disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism NGFR disease C0010308 Therapeutic 0.2 disgenet
Congenital Hypothyroidism GH1 disease C0010308 Therapeutic 0.2 disgenet
Congenital Hypothyroidism ATP5PD disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism NEFL disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism GHR disease C0010308 Therapeutic 0.2 disgenet
Congenital Hypothyroidism RUNX2 disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism G6PD disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism ARPC5 disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism NEFH disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism NEFM disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism BGLAP disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism IGF1 disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism EGR1 disease C0010308 Biomarker 0.2 disgenet
Congenital Hypothyroidism NKX2-5 disease C0010308 Biomarker 0.11 disgenet
Congenital Hypothyroidism PDE4D disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism PRKAR1A disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism TUBB1 disease C0010308 CausalMutation 0.1 disgenet
Congenital Hypothyroidism KMT2D disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism THRA disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism DUOXA2 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism B3GLCT disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism SLC5A5 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism TXNRD2 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism ADNP disease C0010308 CausalMutation 0.1 disgenet
Congenital Hypothyroidism NNT disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism TRAPPC9 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism SLC5A5 disease C0010308 GeneticVariation 0.1 disgenet
Congenital Hypothyroidism DUOXA2 disease C0010308 GeneticVariation 0.1 disgenet
Congenital Hypothyroidism ADAMTSL1 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism GATA6 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism MRAP disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism TBC1D24 disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism STAR disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism GNB1 disease C0010308 CausalMutation 0.1 disgenet
Congenital Hypothyroidism KDM6A disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism MC2R disease C0010308 Biomarker 0.1 disgenet
Congenital Hypothyroidism DUOX1 disease C0010308 Biomarker 0.06 disgenet
Congenital Hypothyroidism DUOX1 disease C0010308 GeneticVariation 0.06 disgenet
Congenital Hypothyroidism DUOX1 disease C0010308 AlteredExpression 0.06 disgenet
Congenital Hypothyroidism GNAS disease C0010308 GeneticVariation 0.04 disgenet
Congenital Hypothyroidism SLC26A4 disease C0010308 GeneticVariation 0.03 disgenet
Congenital Hypothyroidism TTF2 disease C0010308 Biomarker 0.03 disgenet
Congenital Hypothyroidism SLC26A4 disease C0010308 Biomarker 0.03 disgenet
Congenital Hypothyroidism TTF2 disease C0010308 GeneticVariation 0.03 disgenet
Congenital Hypothyroidism EPHA5 disease C0010308 AlteredExpression 0.02 disgenet
Congenital Hypothyroidism TTF1 disease C0010308 AlteredExpression 0.02 disgenet
Congenital Hypothyroidism PHPT1 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism SLC20A1 disease C0010308 Biomarker 0.02 disgenet
Congenital Hypothyroidism PHPT1 disease C0010308 Biomarker 0.02 disgenet
Congenital Hypothyroidism ASAH1 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism SOX3 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism SLC26A7 disease C0010308 Biomarker 0.02 disgenet
Congenital Hypothyroidism SLC20A1 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism SOX3 disease C0010308 Biomarker 0.02 disgenet
Congenital Hypothyroidism ASAH1 disease C0010308 Biomarker 0.02 disgenet
Congenital Hypothyroidism SLC26A7 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism TTF1 disease C0010308 GeneticVariation 0.02 disgenet
Congenital Hypothyroidism DNAJC17 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism PRL disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism NOS2 disease C0010308 AlteredExpression 0.01 disgenet
Congenital Hypothyroidism HHEX disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism JAG1 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism ACHE disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism ALB disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism HLA-A disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism EFNA5 disease C0010308 AlteredExpression 0.01 disgenet
Congenital Hypothyroidism SEMA6A disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism NLGN3 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism ZBTB20 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism NCOR1 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism VDR disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism NLRP2 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism ENO2 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism DUOXA1 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism DECR1 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism DNAJB1P1 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism DNAJB1 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism PDCD6 disease C0010308 AlteredExpression 0.01 disgenet
Congenital Hypothyroidism LEP disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism SERPINA7 disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism KSR1 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism TNF disease C0010308 AlteredExpression 0.01 disgenet
Congenital Hypothyroidism NBN disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism CSF1R disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism NRGN disease C0010308 AlteredExpression 0.01 disgenet
Congenital Hypothyroidism TRH disease C0010308 Biomarker 0.01 disgenet
Congenital Hypothyroidism THRB disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism PAX2 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism CHD7 disease C0010308 GeneticVariation 0.01 disgenet
Congenital Hypothyroidism CNR2 disease C0010308 AlteredExpression 0.01 disgenet
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