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: 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: rs199979628
rs199979628
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0162809
Disease:
Kallmann Syndrome 		0.010 GeneticVariation BEFREE By analyzing protein expression and processing, we did not observe any differences of the p.I668V variant compared with wild-type SEMA3A, while a pathogenic SEMA3A variant p.R66W recently described in a patient with Kallmann syndrome did affect protein secretion. 29432577 2018
dbSNP: rs11766001
rs11766001
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0019569
Disease:
Hirschsprung Disease 		0.010 GeneticVariation BEFREE Furthermore, the frequencies of SEMA3 rs11766001 risk allele in HSCR cases and controls were 1.7 and 0.8 %, respectively. 27469503 2016
dbSNP: rs139438618
rs139438618
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0236664
Disease:
Alcohol-Related Disorders 		G 0.700 GeneticVariation GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
dbSNP: rs139438618
rs139438618
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0236970
Disease:
Alcohol-Induced Disorders 		G 0.700 GeneticVariation GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
dbSNP: rs7804122
rs7804122
Entrez Id: 10371
Gene Symbol: SEMA3A
SEMA3A
CUI: C0149745
Disease:
Oral Ulcer 		0.010 GeneticVariation BEFREE However, analysing <i>Sema3A</i> and <i>Sema7A</i> SNPs with clinical manifestations of SLE indicated that, in <i>Sema3A</i>, the A allele frequencies of rs7804122 polymorphism was higher in patients with oral ulcers. 31394943 2019
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: 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: 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 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: 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: 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: 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: 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: 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: 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