Disease: Familial (FPAH) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE We report the first homozygous nonsense mutation in the GNRHR gene (chr4: g. 68619942G>A, c.112C>T, p. Arg38*) that is associated with familial nCHH. 30947225 2019
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Loss-of-function mutations of the GnRH receptor account for 50% of familial cases of IHH without anosmia. 17161329 2006
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 12679486 2003
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		0.040 GeneticVariation disease BEFREE GnRH receptor mutations have recently been identified in a small number of familial cases of nonanosmic hypogonadotropic hypogonadism. 10690855 2000