SF1, splicing factor 1, 7536

N. diseases: 20; N. variants: 2
Disease: Adrenal cortical hypofunction ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE In rare cases, sequence variants of the NR5A1/SF-1 gene may result in POI, or in various disorders of gonadal development (DGD) or adrenal insufficiency. 31831369 2019
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsible for adrenal insufficiency associated with a gonadal dysgenesis in two 46, XY individuals, one (8 bp deletion in exon 6) resulted in gonadal dysgenesis without adrenal insufficiency. 15472171 2004
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		0.030 GeneticVariation disease BEFREE A novel 8-bp microdeletion of the SF1 gene was identified in a 46,XY sex-reversed patient without adrenal insufficiency. 14689056 2004