Congenital adrenal hyperplasia

Disease Term Disease ID Gene Symbol Classification References Source
Congenital adrenal hyperplasia C0001627 CYP11B1 Causal Pathogenic evidence from ClinVar - ClinVar
CYP17A1 Causal Pathogenic evidence from ClinVar 18645707 ClinVar
CYP21A2 Causal Pathogenic evidence from ClinVar 16705555, 18445671 ClinVar
HSD3B2 Causal Pathogenic evidence from ClinVar 18252794 ClinVar
POR Causal Pathogenic evidence from ClinVar 18559916 ClinVar
AIRE Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
AVPR1A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17218722 -
AVPR2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17218722 -
CACNA1D Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CDH23 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
CYP11B2 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
GML Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
HTR4 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 17218722 -
KCNJ5 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
NR3C1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE11A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
PDE8B Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 18272904 -
PRKACA 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 15521956 -
STAR Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
TBC1D24 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
USP8 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 90795 CYP11B1 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital adrenal hyperplasia due to 11-Beta-hydroxylase deficiency C0268292 CYP11B1 Causal Pathogenic evidence from ClinVar 2022736, 8506298, 8768848, 8964882, 9302260, 9435454, 10487675, 11549691, 15751602, 15755848, 15807871, 16046588, 16670167, 17371482, 17726333, 18663314, 20089618, 20331679, 20947076, 22964742, 23940125, 24022297, 24334966, 24536089, 24987415, 25911436, 26053152, 26066897, 26265915, 26280318, 26476331, 26956189, 28228528 ClinVar
GML Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 2022736, 8506298, 8768848, 8964882, 9302260, 9435454, 10487675, 15751602, 15755848, 15807871, 16046588, 16670167, 17371482, 17726333, 18663314, 20089618, 22964742, 23940125, 24022297, 24334966, 24536089, 24987415, 25911436, 26053152, 26066897, 26265915, 26280318, 26476331, 26956189, 28228528 -
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 90793 CYP17A1 Causal Pathogenic evidence from ClinVar - ClinVar
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 315306 CYP21A2 Causal Pathogenic evidence from ClinVar - ClinVar
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 315311 CYP21A2 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency C2936858 CYP21A2 Causal Pathogenic evidence from ClinVar 1406699, 1406709, 1496017, 1644925, 1864962, 1937474, 2072928, 2249999, 2303461, 2845408, 3038528, 3257825, 3260007, 3267225, 3497399, 3871526, 7749410, 8081391, 8478006, 8485582, 8989258, 9067760, 9187661, 9215318, 9497336, 9580109, 10051010, 10094562, 10198222, 10364682, 10391209, 10408778, 10408786, 10443693, 10496074, 10720040, 10931088, 11232002, 11598371, 11600539, 11746135, 12213891, 12222711, 12788866, 12788880, 12887291, 12915679, 14513879, 14676460, 14715874, 15110320, 15126570, 15623806, 16046588, 16427797, 16483186, 16984992, 17119906, 18319307, 18381579, 18445671, 19263525, 19750867, 20080860, 20661889, 20838032, 20926536, 21098686, 21134444, 21169732, 21228398, 21609351, 22014889, 22262854, 22270556, 22313422, 23142378, 23359698, 23359706, 23769969, 24077358, 24667412, 24671123, 24953648, 25041270, 25121463, 25227725, 25481255, 25538881, 26184415, 27721825 ClinVar
Late onset congenital adrenal hyperplasia C0342467 CYP21A2 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 90791 HSD3B2 Causal Pathogenic evidence from ClinVar - ClinVar
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 95699 POR Causal Pathogenic evidence from ClinVar - ClinVar