SRY, sex determining region Y, 6736

N. diseases: 315; N. variants: 27
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.800 Biomarker disease CTD_human
CUI: C2748895
Disease: Ovotesticular Disorders of Sex Development
Ovotesticular Disorders of Sex Development 		0.800 CausalMutation disease CLINVAR
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 Biomarker disease CTD_human
CUI: C2748896
Disease: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related
46,Xy Gonadal Dysgenesis, Complete, Sry-Related 		0.700 GeneticVariation disease CLINVAR
CUI: C0266361
Disease: True Hermaphroditism (disorder)
True Hermaphroditism (disorder) 		0.500 Biomarker disease HPO
CUI: C0018051
Disease: Gonadal Dysgenesis
Gonadal Dysgenesis 		0.200 Biomarker disease HPO
CUI: C0266362
Disease: Ambiguous Genitalia
Ambiguous Genitalia 		0.200 Biomarker disease HPO
CUI: C0206661
Disease: Gonadoblastoma
Gonadoblastoma 		0.180 Biomarker disease HPO
CUI: C0848558
Disease: Hypospadias
Hypospadias 		0.170 Biomarker disease HPO
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.140 Biomarker disease HPO
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.130 Biomarker disease HPO
CUI: C4551490
Disease: Ovotestis
Ovotestis 		0.130 Biomarker disease HPO
CUI: C0004509
Disease: Azoospermia
Azoospermia 		0.120 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.120 Biomarker disease HPO
CUI: C0156394
Disease: Hypertrophy of clitoris
Hypertrophy of clitoris 		0.120 Biomarker disease HPO
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		0.110 Biomarker phenotype HPO
CUI: C0021364
Disease: Male infertility
Male infertility 		0.110 Biomarker phenotype HPO
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.110 Biomarker disease HPO
CUI: C0151721
Disease: Testicular hypogonadism
Testicular hypogonadism 		0.110 Biomarker disease HPO
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 Biomarker disease HPO
CUI: C0431664
Disease: Unilateral Cryptorchidism
Unilateral Cryptorchidism 		0.110 Biomarker disease HPO
CUI: C0948896
Disease: Primary hypogonadism
Primary hypogonadism 		0.110 Biomarker disease HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		0.100 Biomarker disease HPO
CUI: C0014588
Disease: Epispadias
Epispadias 		0.100 Biomarker group HPO
CUI: C0016842
Disease: Congenital pectus excavatum
Congenital pectus excavatum 		0.100 Biomarker disease HPO