Hyperparathyroidism

Disease Term Disease ID Gene Symbol Classification References Source
Familial Isolated Hyperparathyroidism C4551961 CASR Causal Pathogenic evidence from ClinVar 28740527 ClinVar
CDC73 Causal Pathogenic evidence from ClinVar 15531515 ClinVar
MEN1 Causal Pathogenic evidence from ClinVar 9792884, 10664521, 12699448, 25162666 ClinVar
GCM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27745835 -
Hyperparathyroidism C0020502 CASR Causal Pathogenic evidence from ClinVar 9011580, 11589681 ClinVar
CDC73 Causal Pathogenic evidence from ClinVar - ClinVar
MEN1 Causal Pathogenic evidence from ClinVar - ClinVar
ACTG2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CCND1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21541686 -
CDKN1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN2B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN2C Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
FOXI1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNAS Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
KCNJ10 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
OCRL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTH1R Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 11014383 -
RET Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
SLC26A4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
VDR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERPARATHYROIDISM, NEONATAL SEVERE C1832615 CASR Causal Pathogenic evidence from ClinVar 8675635, 8878438, 9253359, 14985373, 15572418, 17048213, 17555508, 22620673, 24854525, 27434672, 28740527 ClinVar
TRPV6 Causal Pathogenic evidence from ClinVar 29861107 ClinVar
Hyperparathyroidism, Primary C0221002 CASR Causal Pathogenic evidence from ClinVar - ClinVar
CDC73 Causal Pathogenic evidence from ClinVar - ClinVar
MEN1 Causal Pathogenic evidence from ClinVar - ClinVar
AP2S1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDKN1B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GCM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GNA11 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PTH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Neonatal severe primary hyperparathyroidism 417 CASR Causal Pathogenic evidence from ClinVar - ClinVar
TRPV6 Causal Pathogenic evidence from ClinVar - ClinVar
Familial isolated hyperparathyroidism 99879 CDC73 Causal Pathogenic evidence from ClinVar - ClinVar
MEN1 Causal Pathogenic evidence from ClinVar - ClinVar
GCM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERPARATHYROIDISM 1 C1840402 CDC73 Causal Pathogenic evidence from ClinVar 12434154, 12960210, 15632063, 16487440, 18755853, 28740527 ClinVar
Hyperparathyroidism, Secondary C0020503 ACP5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21985997, 22373954 -
ALPL Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22373954 -
CRP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21350317 -
CYP27B1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYP2R1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
IL6 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21350317 -
PTH Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 21350317, 22118402, 22373954 -
VDR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HYPERPARATHYROIDISM 4 C4479229 GCM2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 27745835, 29199197 -