EC Number   |
Disease |
PubMed ID |
Title of Publication |
Category |
Confidence Level |
|---|
    1.3.1.94 | Breast Neoplasms |
34465365 |
Over-expression of SRD5A3 and its prognostic significance in breast cancer. |
causal interaction
diagnostic usage
ongoing research
unassigned |
3
4
4
0 |
| 1.3.1.94 | Cerebellar Ataxia |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.3.1.94 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.3.1.94 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
24433453 |
Adult phenotype and further phenotypic variability in SRD5A3-CDG. |
causal interaction
unassigned |
4
0 |
| 1.3.1.94 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
26219881 |
Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. |
causal interaction
unassigned |
3
0 |
| 1.3.1.94 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
31638560 |
Review of SRD5A3 Disease-Causing Sequence Variants and Ocular Findings in Steroid 5?-Reductase Type 3 Congenital Disorder of Glycosylation, and a Detailed New Case. |
causal interaction
therapeutic application
unassigned |
1
1
0 |
| 1.3.1.94 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
32424323 |
SRD5A3 defective congenital disorder of glycosylation: clinical utility gene card. |
ongoing research
unassigned |
2
0 |
| 1.3.1.94 | ditrans,polycis-undecaprenyl-diphosphate synthase [(2e,6e)-farnesyl-diphosphate specific] deficiency |
22240719 |
SRD5A3-CDG: A patient with a novel mutation. |
causal interaction
unassigned |
4
0 |
| 1.3.1.94 | Eye Diseases |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
| 1.3.1.94 | Intellectual Disability |
20700148 |
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3. |
causal interaction
therapeutic application
unassigned |
4
1
0 |
