SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs138952094
rs138952094
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0034012
Disease:
Delayed Puberty 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs143007146
rs143007146
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0006142
Disease:
Malignant neoplasm of breast 		0.700 GeneticVariation UNIPROT
dbSNP: rs199979628
rs199979628
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C3554021
Disease:
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.700 GeneticVariation UNIPROT
dbSNP: rs137871935
rs137871935
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
dbSNP: rs137871935
rs137871935
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: rs139295139
rs139295139
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: rs139295139
rs139295139
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
dbSNP: rs318240751
rs318240751
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: rs318240751
rs318240751
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
dbSNP: rs318240752
rs318240752
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
dbSNP: rs318240752
rs318240752
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, 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
dbSNP: rs36026860
rs36026860
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
dbSNP: rs36026860
rs36026860
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: rs748219597
rs748219597
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: rs748219597
rs748219597
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
dbSNP: rs761486957
rs761486957
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
dbSNP: rs761486957
rs761486957
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: rs7804122
rs7804122
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Our results for rs7804122 provided preliminary evidence that the SEMA3A gene is involved in the susceptibility to HSCR in the Northeastern Chinese population. 22184102 2012
dbSNP: rs797821
rs797821
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE The genotypes of two SNPs (rs7804122 and rs797821) in the SEMA3A gene in 119 patients with HSCR and 93 controls were examined using PCR-sequencing to determine the contribution of SEMA3A to the HSCR phenotype. 22184102 2012
dbSNP: rs138694505
rs138694505
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0018790
Disease:
Cardiac Arrest 		0.010 GeneticVariation BEFREE A high incidence of SEMA3A(I334V) in UCA patients and inappropriate innervation patterning in their hearts implicate involvement of the SEMA3A gene in the pathogenesis of UCA. 23593010 2013
dbSNP: rs137871935
rs137871935
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: rs139295139
rs139295139
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: rs318240751
rs318240751
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