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: 37
Gene Symbol: ACADVL
ACADVL
acyl-CoA dehydrogenase very long chain 0.653 0.654 4.2E-15
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.050 None 1.000 5 1 1992 2017
Entrez Id: 79798
Gene Symbol: ARMC5
ARMC5
armadillo repeat containing 5 0.670 0.500 0.11
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 540
Gene Symbol: ATP7B
ATP7B
ATPase copper transporting beta 0.529 0.654 4.8E-30
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 551
Gene Symbol: AVP
AVP
arginine vasopressin 0.437 0.846 7.4E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1983 1983
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2001 2001
Entrez Id: 596
Gene Symbol: BCL2
BCL2
BCL2 apoptosis regulator 0.291 0.885 0.56
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2000 2000
Entrez Id: 721
Gene Symbol: C4B
C4B
complement C4B (Chido blood group) 0.603 0.808 0.83
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1995 1995
Entrez Id: 1081
Gene Symbol: CGA
CGA
glycoprotein hormones, alpha polypeptide 0.508 0.808 0.35
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 1082
Gene Symbol: CGB3
CGB3
chorionic gonadotropin subunit beta 3 0.570 0.654 9.8E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 93659
Gene Symbol: CGB5
CGB5
chorionic gonadotropin subunit beta 5 0.579 0.654 2.5E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 94115
Gene Symbol: CGB8
CGB8
chorionic gonadotropin subunit beta 8 0.585 0.654 1.6E-02
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2006 2006
Entrez Id: 9469
Gene Symbol: CHST3
CHST3
carbohydrate sulfotransferase 3 0.517 0.846 7.2E-03
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 1994 2002
Entrez Id: 80347
Gene Symbol: COASY
COASY
Coenzyme A synthase 0.551 0.654 8.1E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1994 1994
Entrez Id: 1392
Gene Symbol: CRH
CRH
corticotropin releasing hormone 0.439 0.808 0.72
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.020 None 1.000 2 0 2002 2017
Entrez Id: 1421
Gene Symbol: CRYGD
CRYGD
crystallin gamma D 0.510 0.808 3.0E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2017 2017
Entrez Id: 1583
Gene Symbol: CYP11A1
CYP11A1
cytochrome P450 family 11 subfamily A member 1 0.547 0.731 5.5E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 2019 2019
Entrez Id: 1584
Gene Symbol: CYP11B1
CYP11B1
cytochrome P450 family 11 subfamily B member 1 0.563 0.615 8.2E-07
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.200 None 1.000 36 3 1991 2018
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
cytochrome P450 family 11 subfamily B member 2 0.553 0.615 7.1E-19
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.130 None 1.000 3 1 2001 2004
Entrez Id: 1586
Gene Symbol: CYP17A1
CYP17A1
cytochrome P450 family 17 subfamily A member 1 0.462 0.769 2.6E-04
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.700 strong 1.000 15 1 1989 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.030 None 1.000 3 0 2017 2019
Entrez Id: 1590
Gene Symbol: CYP21A1P
CYP21A1P
cytochrome P450 family 21 subfamily A member 1, pseudogene 0.780 0.500
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.100 None 1.000 14 0 1990 2013
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 0.983 221 17 1983 2020
Entrez Id: 1555
Gene Symbol: CYP2B6
CYP2B6
cytochrome P450 family 2 subfamily B member 6 0.428 0.846 1.9E-10
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.100 None 1.000 18 1 1986 2019
Entrez Id: 1556
Gene Symbol: CYP2B7P
CYP2B7P
cytochrome P450 family 2 subfamily B member 7, pseudogene 0.760 0.385
CUI: C0001627
Disease: Congenital adrenal hyperplasia
Congenital adrenal hyperplasia
disease 0.010 None 1.000 1 0 1999 1999