Disease: Follicle-stimulating hormone deficiency, isolated ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GeneticVariation disease CLINVAR Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility. 28392474 2017
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GeneticVariation disease BEFREE Novel FSHβ mutation in a male patient with isolated FSH deficiency and infertility. 28392474 2017
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GermlineCausalMutation disease ORPHANET Clinical and hormonal features of selective follicle-stimulating hormone (FSH) deficiency due to FSH beta-subunit gene mutations in both sexes. 15705395 2005
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 Biomarker disease GENOMICS_ENGLAND FSH beta gene mutations in a female with partial breast development and a male sibling with normal puberty and azoospermia. 12161499 2002
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 CausalMutation disease CLINVAR Male hypogonadism due to a mutation in the gene for the beta-subunit of follicle-stimulating hormone. 9624193 1998
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 CausalMutation disease CLINVAR Isolated deficiency of follicle-stimulating hormone re-revisited. 9280841 1997
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 CausalMutation disease CLINVAR Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. 9271483 1997
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GeneticVariation disease UNIPROT Delayed puberty and hypogonadism caused by mutations in the follicle-stimulating hormone beta-subunit gene. 9271483 1997
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GeneticVariation disease UNIPROT Isolated deficiency of follicle-stimulating hormone re-revisited. 9280841 1997
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 GeneticVariation disease UNIPROT Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. 8220432 1993
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 CausalMutation disease CLINVAR Primary amenorrhoea and infertility due to a mutation in the beta-subunit of follicle-stimulating hormone. 8220432 1993
CUI: C1856716
Disease: Follicle-stimulating hormone deficiency, isolated
Follicle-stimulating hormone deficiency, isolated 		0.710 Biomarker disease CTD_human