Source: ALL

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: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		disease 0.800 strong 1.000 18 1 1992 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		disease 0.700 strong 1.000 31 27 1990 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease 0.500 None 0.889 18 0 1992 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0018054
Disease: Gonadal Dysgenesis, 46,XY
Gonadal Dysgenesis, 46,XY 		disease 0.400 None 0.950 20 0 1991 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C2936694
Disease: Swyer Syndrome
Swyer Syndrome 		disease 0.400 None 1.000 18 0 1991 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0018055
Disease: Gonadal Dysgenesis, Mixed
Gonadal Dysgenesis, Mixed 		disease 0.360 None 1.000 6 0 1992 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C4510744
Disease: 46,XY partial gonadal dysgenesis
46,XY partial gonadal dysgenesis 		disease 0.310 None 1.000 2 0 2007 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		disease 0.200 None 1.000 31 3 1991 2017
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		disease 0.200 None 1.000 11 0 1992 2013
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		disease 0.180 None 0.875 8 0 1995 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0848558
Disease: Hypospadias
Hypospadias 		disease 0.170 None 0.857 7 0 1995 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		disease 0.140 None 1.000 4 0 1992 2005
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		disease 0.130 None 1.000 3 0 2003 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C4551490
Disease: Ovotestis
Ovotestis 		disease 0.130 None 1.000 3 0 2000 2002
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0004509
Disease: Azoospermia
Azoospermia 		disease 0.120 None 1.000 2 0 2005 2018
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		disease 0.120 None 1.000 2 0 2011 2016
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0013336
Disease: Dwarfism
Dwarfism 		disease 0.120 None 1.000 2 0 2005 2015
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		disease 0.110 None 1.000 1 0 2007 2007
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		disease 0.110 None 1.000 1 0 2018 2018
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		disease 0.110 None 1.000 1 0 2019 2019
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		disease 0.110 None 1.000 1 0 2012 2012
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		disease 0.110 None 1.000 1 0 2011 2011
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0021364
Disease: Male infertility
Male infertility 		phenotype 0.110 None 1.000 1 0 2007 2007
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype 0.110 None 1.000 1 0 2010 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		disease 0.100 None 0.978 45 3 1991 2019