Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis. 28030592

2016
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Identification and molecular modelling of a novel familial mutation in the SRY gene implicated in the pure gonadal dysgenesis. 17063144

2007
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT True hermaphroditism in an XY individual due to a familial point mutation of the SRY gene. 12793612

2003
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. 12107262

2002
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation. 11563911

2001
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Identification of a new missense mutation (Gly95Glu) in a highly conserved codon within the high-mobility group box of the sex-determining region Y gene: report on a 46,XY female with gonadal dysgenesis and yolk-sac tumor. 10852465

2000
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A mutation in the 5' non-high mobility group box region of the SRY gene in patients with Turner syndrome and Y mosaicism. 10843173

2000
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with an XY sex reversal. 10721678

2000
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A novel sex-determining region on Y (SRY) missense mutation identified in a 46,XY female and also in the father. 10670762

1999
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis. 9450909

1998
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Three novel SRY mutations in XY gonadal dysgenesis and the enigma of XY gonadal dysgenesis cases without SRY mutations. 9678356

1998
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A novel missense mutation (S18N) in the 5' non-HMG box region of the SRY gene in a patient with partial gonadal dysgenesis and his normal male relatives. 9521592

1998
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Two novel SRY missense mutations reducing DNA binding identified in XY females and their mosaic fathers. 7717397

1995
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT True hermaphroditism with 46,XY karyotype and a point mutation in the SRY gene. 7776083

1995
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Description and functional implications of a novel mutation in the sex-determining gene SRY. 8019555

1994
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Molecular basis of mammalian sexual determination: activation of Müllerian inhibiting substance gene expression by SRY. 7985018

1994
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT True hermaphroditism in a 46,XY individual, caused by a postzygotic somatic point mutation in the male gonadal sex-determining locus (SRY): molecular genetics and histological findings in a sporadic case. 8447323

1993
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. 8353496

1993
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A new de novo mutation (A113T) in HMG box of the SRY gene leads to XY gonadal dysgenesis. 8105086

1993
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. 1415266

1992
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. 1339396

1992
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT A familial mutation in the testis-determining gene SRY shared by both sexes. 1483689

1992
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. 1570829

1992
Entrez Id: 6736
Gene Symbol: SRY
SRY
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation UNIPROT Genetic evidence equating SRY and the testis-determining factor. 2247149

1990