SERPINA4, serpin family A member 4, 5267

N. diseases: 45; N. variants: 3
Disease: Klinefelter Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.020 GeneticVariation disease BEFREE Mutations in the KAL gene (Kallmann syndrome) and the AHC gene (adrenal hypoplasia congenita/HH) cause X-linked recessive HH. 10727999 1999
CUI: C0022735
Disease: Klinefelter Syndrome
Klinefelter Syndrome 		0.020 GeneticVariation disease BEFREE In contrast, the molecular mechanisms underlying some forms of hypogonadotropic hypogonadism (HH) are clearer, following the description of mutations in the genes KAL, GNRHR, and PROP1. 10599708 1999