Source: INFERRED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Association of Steroid 5α-Reductase Type 3 Congenital Disorder of Glycosylation With Early-Onset Retinal Dystrophy. 28253385

2017
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. 27480077

2016
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. 26219881

2016
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Adult phenotype and further phenotypic variability in SRD5A3-CDG. 24433453

2014
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. 20700148

2011
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder. 20637498

2010
Entrez Id: 100506462
Gene Symbol: SRD5A3-AS1
SRD5A3-AS1
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 CausalMutation CLINVAR A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. 20852264

2010