Disease: Oligosynaptic Infertility ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 GeneticVariation disease CLINVAR SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management. 28032338 2017
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis. 27169744 2016
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR Exome sequencing for the diagnosis of 46,XY disorders of sex development. 25383892 2015
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis. 25122490 2014
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR The p.G146A and p.P125P polymorphisms in the steroidogenic factor-1 (SF-1) gene do not affect the risk for hypospadias in Caucasians. 23154282 2012
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred. 22907560 2012
CUI: C0403810
Disease: Oligosynaptic Infertility
Oligosynaptic Infertility 		0.100 CausalMutation disease CLINVAR Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. 22028768 2011