Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency 		disease 0.800 None 0.976 46 20 1980 2020
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia 		disease 0.500 None 0.983 0 1 1983 2020
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group 0.100 None 1.000 9 1 1998 2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group 0.100 None 1.000 9 2 1998 2015
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0268226
Disease: Type I Mucolipidosis
Type I Mucolipidosis 		disease 0.100 None 1.000 3 3 2000 2014
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0553723
Disease: Squamous cell carcinoma of skin
Squamous cell carcinoma of skin 		disease 0.100 None 1.000 1 1 2016 2016
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C3150275
Disease: COMPLEMENT COMPONENT 2 DEFICIENCY
COMPLEMENT COMPONENT 2 DEFICIENCY 		disease 0.100 None 1.000 1 1 1992 1992
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C3809950
Disease: COMPLEMENT FACTOR B DEFICIENCY
COMPLEMENT FACTOR B DEFICIENCY 		disease 0.100 None 0 2
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C3281289
Disease: TRICHOHEPATOENTERIC SYNDROME 2
TRICHOHEPATOENTERIC SYNDROME 2 		disease 0.100 None 0 5
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C3151153
Disease: ADENOMA, CORTISOL-PRODUCING
ADENOMA, CORTISOL-PRODUCING 		disease 0.100 None 0 1
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C2752038
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4
HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 4 		disease 0.100 None 0 2
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C1859998
Disease: CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING
CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING 		disease 0.100 None 0 1
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease 0.100 None 0 1
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C0023806
Disease: Lipomucopolysaccharidosis
Lipomucopolysaccharidosis 		disease 0.100 None 0 2
Entrez Id: 1589
Gene Symbol: CYP21A2
CYP21A2 		cytochrome P450 family 21 subfamily A member 2 0.525 0.769 2.6E-04
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		disease 0.100 None 0 7