SRD5A2, steroid 5 alpha-reductase 2, 6716

N. diseases: 106; N. variants: 55
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial 		0.310 GeneticVariation disease ORPHANET
CUI: C1387005
Disease: Penis agenesis
Penis agenesis 		0.140 Biomarker disease HPO
CUI: C4551492
Disease: Micropenis
Micropenis 		0.140 CausalMutation disease CLINVAR
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.110 Biomarker disease HPO
CUI: C0452148
Disease: Hypospadias, perineal
Hypospadias, perineal 		0.110 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 CausalMutation disease CLINVAR
CUI: C0010417
Disease: Cryptorchidism
Cryptorchidism 		0.100 Biomarker disease HPO
CUI: C0266435
Disease: Congenital hypoplasia of penis
Congenital hypoplasia of penis 		0.100 Biomarker disease HPO
CUI: C0341787
Disease: Bifid scrotum
Bifid scrotum 		0.100 Biomarker disease HPO
CUI: C0431659
Disease: Hypoplasia of scrotum
Hypoplasia of scrotum 		0.100 Biomarker phenotype HPO
CUI: C0520927
Disease: Decreased fertility
Decreased fertility 		0.100 Biomarker phenotype HPO
CUI: C0949628
Disease: Uniparental Disomy
Uniparental Disomy 		0.100 Biomarker phenotype HPO
CUI: C4020961
Disease: Displacement of the external urethral meatus
Displacement of the external urethral meatus 		0.100 CausalMutation disease CLINVAR
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		0.100 Biomarker phenotype HPO
CUI: C4021776
Disease: Abnormality of the voice
Abnormality of the voice 		0.100 Biomarker disease HPO
CUI: C4021823
Disease: Ambiguous genitalia, male
Ambiguous genitalia, male 		0.100 Biomarker phenotype HPO
CUI: C4021972
Disease: Urogenital sinus anomaly
Urogenital sinus anomaly 		0.100 Biomarker disease HPO
CUI: C4025823
Disease: Abnormality of the endocrine system
Abnormality of the endocrine system 		0.100 Biomarker disease HPO
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency. 835597 1977
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. 1406794 1992
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease CLINVAR Brief report: the molecular basis of steroid 5 alpha-reductase deficiency in a large Dominican kindred. 1406794 1992
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease BEFREE Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygotes, 6 compound heterozygotes, and 4 inferred compound heterozygotes from 23 families with 5 alpha-reductase deficiency. 1522235 1992
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 GeneticVariation disease UNIPROT Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygotes, 6 compound heterozygotes, and 4 inferred compound heterozygotes from 23 families with 5 alpha-reductase deficiency. 1522235 1992
CUI: C0268297
Disease: Pseudovaginal Perineoscrotal Hypospadias
Pseudovaginal Perineoscrotal Hypospadias 		0.800 CausalMutation disease CLINVAR Molecular analysis of the SRD5A2 gene resulted in the identification of 18 mutations in 11 homozygotes, 6 compound heterozygotes, and 4 inferred compound heterozygotes from 23 families with 5 alpha-reductase deficiency. 1522235 1992