Pseudohypoparathyroidism

Disease Term Disease ID Gene Symbol Classification References Source
Pseudohypoparathyroidism C0033806 GNAS Causal Pathogenic evidence from ClinVar 9506752, 17299070, 21823526 ClinVar
GNAS-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE4D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRKAR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PRMT7 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
STX16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoparathyroidism type 1A 79443 GNAS Causal Pathogenic evidence from ClinVar - ClinVar
Pseudohypoparathyroidism type 1B 94089 GNAS Causal Pathogenic evidence from ClinVar - ClinVar
STX16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoparathyroidism Type 1B C2932715 GNAS Causal Pathogenic evidence from ClinVar 21836370 ClinVar
STX16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Pseudohypoparathyroidism type 1C 79444 GNAS Causal Pathogenic evidence from ClinVar - ClinVar
Pseudohypoparathyroidism Type 1C C2932716 GNAS Causal Pathogenic evidence from ClinVar 21488135, 28453643 ClinVar
Pseudohypoparathyroidism, Type Ia C3494506 GNAS Causal Pathogenic evidence from ClinVar 7523385, 8388883, 8702665, 9159128, 9328353, 9506752, 9727013, 11092390, 11450852, 11600516, 12624854, 15817905, 17299070, 21488135, 21525160, 21823526, 23533243, 25802881, 26267576, 26633545, 27922245, 28453643 ClinVar
PSEUDOHYPOPARATHYROIDISM, TYPE IB C1864100 GNAS Causal Pathogenic evidence from ClinVar 9328353, 9506752, 17299070, 21823526, 28453643 ClinVar
STX16 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -