| 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 |
- |