Isolated growth hormone deficiency

Disease Term Disease ID Gene Symbol Classification References Source
Isolated growth hormone deficiency type IA 231662 GH1 Causal Pathogenic evidence from ClinVar - ClinVar
RNPC3 Causal Pathogenic evidence from ClinVar - ClinVar
Isolated growth hormone deficiency type IB 231671 GH1 Causal Pathogenic evidence from ClinVar - ClinVar
GHRHR Causal Pathogenic evidence from ClinVar - ClinVar
Isolated growth hormone deficiency type II 231679 GH1 Causal Pathogenic evidence from ClinVar - ClinVar
POU1F1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Isolated Growth Hormone Deficiency, Type IB C2748571 GH1 Causal Pathogenic evidence from ClinVar 12655557, 19762173, 22139958 ClinVar
GHRHR Causal Pathogenic evidence from ClinVar 19762173, 22139958 ClinVar
Isolated Growth Hormone Deficiency, Type II C0271567 GH1 Causal Pathogenic evidence from ClinVar 9152628, 11502836, 19762173, 22139958 ClinVar
CSHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
POU1F1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 26612202 -
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV C4722273 GH1 Causal Pathogenic evidence from ClinVar - ClinVar
GHRHR Causal Pathogenic evidence from ClinVar 8528260, 9467553, 10084571, 11232012, 12534354 ClinVar
CSHL1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V C4748435 GH1 Causal Pathogenic evidence from ClinVar 19762173, 22139958 ClinVar
RNPC3 Causal Pathogenic evidence from ClinVar 24480542, 29255062 ClinVar