Pituitary hormone deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Combined pituitary hormone deficiencies, genetic forms 95494 HESX1 Causal Pathogenic evidence from ClinVar - ClinVar
OTX2 Causal Pathogenic evidence from ClinVar - ClinVar
POU1F1 Causal Pathogenic evidence from ClinVar - ClinVar
FOXA2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
LHX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PROP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pituitary Hormone Deficiency, Combined, 1 C2751608 HESX1 Causal Pathogenic evidence from ClinVar 14561704 ClinVar
OTX2 Causal Pathogenic evidence from ClinVar 18728160 ClinVar
POU1F1 Causal Pathogenic evidence from ClinVar 1472057, 1509262, 1509263, 7852536, 8768831, 9485179, 9626142, 11297581, 15670191, 15928241, 16060904, 16968807, 22010633, 26612202 ClinVar
GLI2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 20685856 -
LHX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 25871839 -
PROP1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 9462743 -
PITUITARY HORMONE DEFICIENCY, COMBINED, 6 C3151440 OTX2 Causal Pathogenic evidence from ClinVar 18728160, 19965921, 22715480, 26416826 ClinVar
PITUITARY HORMONE DEFICIENCY, COMBINED, 4 C2678408 ACBD6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 23990694 -
LHX4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11567216, 17527005, 18073311, 18445675, 23990694, 25955177 -
Pituitary Hormone Deficiency, Combined, 3 C3489787 LHX3 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10835633, 17327381, 18407919, 19762173, 28302169 -