Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Combined Pituitary Hormone Deficiency PROP1 disease C0242343 GermlineCausalMutation 0.5 orphanet , disgenet
Combined Pituitary Hormone Deficiency PROP1 disease C0242343 AlteredExpression 0.5 orphanet , disgenet
Combined Pituitary Hormone Deficiency PROP1 disease C0242343 Biomarker 0.5 orphanet , disgenet
Combined Pituitary Hormone Deficiency PROP1 disease C0242343 GeneticVariation 0.5 orphanet , disgenet
Combined Pituitary Hormone Deficiency SOX3 disease C0242343 GeneticVariation 0.46 orphanet , disgenet
Combined Pituitary Hormone Deficiency SOX3 disease C0242343 Biomarker 0.46 orphanet , disgenet
Combined Pituitary Hormone Deficiency SOX3 disease C0242343 GermlineCausalMutation 0.46 orphanet , disgenet
Combined Pituitary Hormone Deficiency OTX2 disease C0242343 Biomarker 0.35 orphanet , disgenet
Combined Pituitary Hormone Deficiency OTX2 disease C0242343 GeneticVariation 0.35 orphanet , disgenet
Combined Pituitary Hormone Deficiency GHRH disease C0242343 Biomarker 0.21 disgenet
Combined Pituitary Hormone Deficiency TACR3 disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency GNRH1 disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency POU1F1 disease C0242343 Biomarker 0.2 orphanet , disgenet
Combined Pituitary Hormone Deficiency KISS1 disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency POU1F1 disease C0242343 GeneticVariation 0.2 orphanet , disgenet
Combined Pituitary Hormone Deficiency GNRHR disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency POU1F1 disease C0242343 AlteredExpression 0.2 orphanet , disgenet
Combined Pituitary Hormone Deficiency CSHL1 disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency NR5A1 disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency KISS1R disease C0242343 Biomarker 0.2 disgenet
Combined Pituitary Hormone Deficiency GLI2 disease C0242343 GeneticVariation 0.16 orphanet , disgenet
Combined Pituitary Hormone Deficiency GLI2 disease C0242343 Biomarker 0.16 orphanet , disgenet
Combined Pituitary Hormone Deficiency FGFR1 disease C0242343 Biomarker 0.13 disgenet
Combined Pituitary Hormone Deficiency FGFR1 disease C0242343 GeneticVariation 0.13 disgenet
Combined Pituitary Hormone Deficiency FGF8 disease C0242343 Biomarker 0.11 disgenet
Combined Pituitary Hormone Deficiency ZIC2 disease C0242343 GeneticVariation 0.11 disgenet
Combined Pituitary Hormone Deficiency SIX3 disease C0242343 Biomarker 0.11 disgenet
Combined Pituitary Hormone Deficiency FGF8 disease C0242343 GeneticVariation 0.11 disgenet
Combined Pituitary Hormone Deficiency ZIC2 disease C0242343 Biomarker 0.11 disgenet
Combined Pituitary Hormone Deficiency LHX4 disease C0242343 Biomarker 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency TGIF1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency GH1 disease C0242343 AlteredExpression 0.1 disgenet
Combined Pituitary Hormone Deficiency SUFU disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency LHX3 disease C0242343 Biomarker 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency LHX3 disease C0242343 GeneticVariation 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency GLI3 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency LHX4 disease C0242343 GeneticVariation 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency SHH disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency NODAL disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency CDON disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency SLC20A1 disease C0242343 GeneticVariation 0.1 disgenet
Combined Pituitary Hormone Deficiency DISP1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency MAGEL2 disease C0242343 CausalMutation 0.1 disgenet
Combined Pituitary Hormone Deficiency GAS1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency SLC20A1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency FOXH1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency GH1 disease C0242343 GeneticVariation 0.1 disgenet
Combined Pituitary Hormone Deficiency GH1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency TDGF1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency HESX1 disease C0242343 Biomarker 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency LHX4 disease C0242343 AlteredExpression 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency PRL disease C0242343 GeneticVariation 0.1 disgenet
Combined Pituitary Hormone Deficiency HESX1 disease C0242343 GeneticVariation 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency HESX1 disease C0242343 AlteredExpression 0.1 orphanet , disgenet
Combined Pituitary Hormone Deficiency PRL disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency DLL1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency PTCH1 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency KIAA0556 disease C0242343 Biomarker 0.1 disgenet
Combined Pituitary Hormone Deficiency BRD2 disease C0242343 Biomarker 0.04 disgenet
Combined Pituitary Hormone Deficiency BRD2 disease C0242343 GeneticVariation 0.04 disgenet
Combined Pituitary Hormone Deficiency IGF1 disease C0242343 Biomarker 0.04 disgenet
Combined Pituitary Hormone Deficiency IGF1 disease C0242343 AlteredExpression 0.04 disgenet
Combined Pituitary Hormone Deficiency POMC disease C0242343 Biomarker 0.03 disgenet
Combined Pituitary Hormone Deficiency POMC disease C0242343 GeneticVariation 0.03 disgenet
Combined Pituitary Hormone Deficiency GHRHR disease C0242343 GeneticVariation 0.03 disgenet
Combined Pituitary Hormone Deficiency FOXA2 disease C0242343 Biomarker 0.02 orphanet , disgenet
Combined Pituitary Hormone Deficiency MIR511 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency KMT2B disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency PITX2 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency SERPINA1 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency HNF1A disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency PROK2 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency MSH6 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency PCBP4 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency GHSR disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency CD1A disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency MSH2 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency CREBBP disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency OPN1LW disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency PROKR2 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency SLC15A4 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency ATP7B disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency VIM disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency PAG1 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency HHIP disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency GHR disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency ANOS1 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency KMT2D disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency EIF4E disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency RBM28 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency S100A1 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency ROBO1 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency BMP4 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency S100B disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency MIR593 disease C0242343 Biomarker 0.01 disgenet
Combined Pituitary Hormone Deficiency WDR11 disease C0242343 GeneticVariation 0.01 disgenet
Combined Pituitary Hormone Deficiency SMPD3 disease C0242343 Biomarker 0.01 disgenet
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