SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs318240753
rs318240753
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C3554021
Disease:
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
dbSNP: rs318240753
rs318240753
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C3554021
Disease:
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
dbSNP: rs318240753
rs318240753
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C3554021
Disease:
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. 22416012 2012