Source: HPO

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: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		disease 0.500 None 0.889 0 0 1992 2010
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 0 0 1992 2013
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 0 0 1991 2017
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 0 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 0 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 0 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 0 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 0 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 0 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 0 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 0 0 2005 2015
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 0 0 2012 2012
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 0 0 2019 2019
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 0 0 2007 2007
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 0 0 2007 2007
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 0 0 2011 2011
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 0 0 2018 2018
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 0 0 2010 2010
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1858573
Disease: Sparse pubic hair
Sparse pubic hair 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1848178
Disease: Female external genitalia in individual with 46,XY karyotype
Female external genitalia in individual with 46,XY karyotype 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1849020
Disease: Short metatarsal
Short metatarsal 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
Low-set, posteriorly rotated ears 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1855728
Disease: Low posterior hairline
Low posterior hairline 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1850663
Disease: Muscle hypertrophy of the lower extremities
Muscle hypertrophy of the lower extremities 		phenotype 0.100 None 0 0
Entrez Id: 6736
Gene Symbol: SRY
SRY 		sex determining region Y 0.456 0.808
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance 		phenotype 0.100 None 0 0