Disease Term Disease ID Gene Symbol Classification References Source
Familial glucocorticoid deficiency 361, C4054695 MC2R Causal Pathogenic evidence from ClinVar - ClinVar
MRAP Causal Pathogenic evidence from ClinVar - ClinVar
NNT Causal Pathogenic evidence from ClinVar - ClinVar
STAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TXNRD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24601690 -
Familial Glucocorticoid Deficiency Type 1 C4049650 MC2R Causal Pathogenic evidence from ClinVar 8069303, 8094489, 8227361, 8636348, 10971458, 12213892, 17128564, 18492762 ClinVar
MRAP Causal Pathogenic evidence from ClinVar 15654338, 17893271, 20427498 ClinVar
NNT Causal Pathogenic evidence from ClinVar 22634753 ClinVar
STAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 19773404 -
TXNRD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24601690 -
Familial Glucocorticoid Deficiency Type 2 C4049714 MRAP Causal Pathogenic evidence from ClinVar 15654338 ClinVar
MRAP-AS1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Familial HDL deficiency C2931838 ABCA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 10431236, 11476965 -
GLUCOCORTICOID DEFICIENCY 5 C4540522 TXNRD2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 24601690 -