Source: BEFREE

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: 367
Gene Symbol: AR
AR
androgen receptor 0.351 0.846 0.99
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.400 None 0.918 47 4 1995 2019
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
methylenetetrahydrofolate reductase 0.337 0.885 3.2E-10
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.400 None 0.872 39 5 2003 2019
Entrez Id: 1080
Gene Symbol: CFTR
CFTR
CF transmembrane conductance regulator 0.424 0.885 2.2E-58
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.500 None 1.000 32 0 1995 2020
Entrez Id: 560
Gene Symbol: AZF1
AZF1
azoospermia factor 1 0.711 0.269
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 0.950 20 0 1997 2017
Entrez Id: 2944
Gene Symbol: GSTM1
GSTM1
glutathione S-transferase mu 1 0.380 0.923 2.1E-03
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 1.000 16 0 2002 2019
Entrez Id: 1617
Gene Symbol: DAZ1
DAZ1
deleted in azoospermia 1 0.705 0.385
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.200 None 0.875 15 0 1996 2018
Entrez Id: 2952
Gene Symbol: GSTT1
GSTT1
glutathione S-transferase theta 1 0.393 0.923 1.5E-04
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 0.917 12 0 2010 2019
Entrez Id: 2492
Gene Symbol: FSHR
FSHR
follicle stimulating hormone receptor 0.539 0.654 1.4E-11
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 0.583 12 3 2006 2017
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
estrogen receptor 1 0.324 0.962 1.00
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.400 None 0.929 12 2 2002 2019
Entrez Id: 83844
Gene Symbol: USP26
USP26
ubiquitin specific peptidase 26 0.736 0.154
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 0.846 11 4 2005 2019
Entrez Id: 1618
Gene Symbol: DAZL
DAZL
deleted in azoospermia like 0.780 0.154 0.99
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 0.700 10 2 1996 2017
Entrez Id: 5619
Gene Symbol: PRM1
PRM1
protamine 1 0.722 0.269 2.7E-02
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.100 None 1.000 10 2 2003 2019
Entrez Id: 1543
Gene Symbol: CYP1A1
CYP1A1
cytochrome P450 family 1 subfamily A member 1 0.436 0.846 1.1E-17
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.400 None 1.000 10 2 2008 2019
Entrez Id: 6046
Gene Symbol: BRD2
BRD2
bromodomain containing 2 0.450 0.808 1.00
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.080 None 0.750 8 1 2005 2019
Entrez Id: 5620
Gene Symbol: PRM2
PRM2
protamine 2 0.792 0.154 2.5E-02
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.080 None 1.000 8 3 2003 2019
Entrez Id: 4846
Gene Symbol: NOS3
NOS3
nitric oxide synthase 3 0.378 0.885 6.7E-07
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.370 None 0.857 7 1 2008 2018
Entrez Id: 5428
Gene Symbol: POLG
POLG
DNA polymerase gamma, catalytic subunit 0.457 0.846 2.1E-09
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.370 None 0.625 7 0 2004 2013
Entrez Id: 6638
Gene Symbol: SNRPN
SNRPN
small nuclear ribonucleoprotein polypeptide N 0.538 0.731 4.3E-02
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.070 None 1.000 7 0 2011 2018
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
estrogen receptor 2 0.400 0.923 4.5E-08
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.060 None 1.000 6 2 2009 2015
Entrez Id: 4548
Gene Symbol: MTR
MTR
5-methyltetrahydrofolate-homocysteine methyltransferase 0.482 0.808 2.4E-12
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.360 None 0.833 6 1 2006 2017
Entrez Id: 27306
Gene Symbol: HPGDS
HPGDS
hematopoietic prostaglandin D synthase 0.388 0.923 1.8E-06
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.060 None 1.000 6 0 2010 2018
Entrez Id: 7157
Gene Symbol: TP53
TP53
tumor protein p53 0.236 0.962 0.53
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.360 None 0.833 6 4 2007 2018
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
5-methyltetrahydrofolate-homocysteine methyltransferase reductase 0.502 0.808 2.2E-14
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.360 None 0.714 6 1 2006 2019
Entrez Id: 1588
Gene Symbol: CYP19A1
CYP19A1
cytochrome P450 family 19 subfamily A member 1 0.410 0.885 1.7E-05
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.150 None 1.000 5 0 2006 2019
Entrez Id: 2516
Gene Symbol: NR5A1
NR5A1
nuclear receptor subfamily 5 group A member 1 0.479 0.731 0.99
CUI: C0021364
Disease: Male infertility
Male infertility
phenotype 0.450 None 0.800 5 0 2010 2018