Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
ACTH Deficiency, Isolated TBX19 disease C0271583 Biomarker 0.76 orphanet , disgenet
ACTH Deficiency, Isolated TBX19 disease C0271583 GeneticVariation 0.76 orphanet , disgenet
ACTH Deficiency, Isolated TBX19 disease C0271583 CausalMutation 0.76 orphanet , disgenet
ACTH Deficiency, Isolated TBX19 disease C0271583 GermlineCausalMutation 0.76 orphanet , disgenet
ACTH Deficiency, Isolated CHRNA4 disease C0271583 CausalMutation 0.1 disgenet
ACTH Deficiency, Isolated RPE65 disease C0271583 CausalMutation 0.1 disgenet
ACTH Deficiency, Isolated POMC disease C0271583 GeneticVariation 0.03 disgenet
ACTH Deficiency, Isolated POMC disease C0271583 AlteredExpression 0.03 disgenet
ACTH Deficiency, Isolated NFKB2 disease C0271583 GeneticVariation 0.01 disgenet
ACTH Deficiency, Isolated SLC20A1 disease C0271583 Biomarker 0.01 disgenet
ACTH Deficiency, Isolated CRH disease C0271583 GeneticVariation 0.01 disgenet
ACTH Deficiency, Isolated SERPINA6 disease C0271583 Biomarker 0.01 disgenet
ACTH Deficiency, Isolated HT disease C0271583 Biomarker 0.01 disgenet
ACTH Deficiency, Isolated HLA-C disease C0271583 Biomarker 0.01 disgenet
ACTH Deficiency, Isolated POU1F1 disease C0271583 Biomarker 0.01 disgenet
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