SEMA3A, semaphorin 3A, 10371

N. diseases: 202; N. variants: 19
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients. 25077900 2014
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
CUI: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.600 GeneticVariation disease UNIPROT SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. 22416012 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 GeneticVariation disease BEFREE SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. 22927827 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 GeneticVariation disease 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
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.110 GeneticVariation disease GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.110 GeneticVariation disease BEFREE SEMA3A variation is significantly and replicably associated with comorbid AD and MD in African American participants. 29071344 2017
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.110 GeneticVariation disease GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE In summary, mutant SEMA3A is a vascular normalizing agent that can be exploited to treat cancer and, potentially, other diseases characterized by pathological angiogenesis. 29794061 2018
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0236664
Disease: Alcohol-Related Disorders
Alcohol-Related Disorders 		0.100 GeneticVariation group GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0236970
Disease: Alcohol-Induced Disorders
Alcohol-Induced Disorders 		0.100 GeneticVariation group GWASCAT Genetic Risk Variants Associated With Comorbid Alcohol Dependence and Major Depression. 29071344 2017
CUI: C0455829
Disease: Waist Circumference
Waist Circumference 		0.100 GeneticVariation phenotype GWASCAT Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. 28552196 2017
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.090 GeneticVariation group BEFREE In summary, mutant SEMA3A is a vascular normalizing agent that can be exploited to treat cancer and, potentially, other diseases characterized by pathological angiogenesis. 29794061 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.070 GeneticVariation phenotype BEFREE We discovered, among other novel somatic variants in axon guidance pathway genes, a novel mutation in the PLXNA1 receptor (c.2587G>A) in newly established cell line SB.06 that mediates oncogenic cues of increased invasion and proliferation in SB.06 cells and increased invasion in 293T cells upon stimulation with the receptor's natural ligand semaphorin 3A compared to wild type PLXNA1 cells. 26962861 2016
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.030 GeneticVariation disease 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
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		0.030 GeneticVariation disease BEFREE Recently, genetic markers within a locus on 7q21.11 containing the SEMA3A, SEMA3C, and SEMA3D genes were reported to be associated with Hirschsprung disease (HSCR). 27469503 2016
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.030 GeneticVariation disease BEFREE We have previously shown that the mutations p.R116W and p.C299S, associated with MED and SEMD, respectively, cause retention of matrilin-3 within the endoplasmic reticulum of primary chondrocytes, while the mutation associated with osteoarthritis, p.T298M, does not hinder secretion. 20077500 2010
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.020 GeneticVariation disease BEFREE Whilst infarct sizes were similar 14 days after myocardial infarction in both genotypes, Sema3A HZ mice had thinner infarcts and reduced cardiac function as compared to their WT littermates. 28540528 2017
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.020 GeneticVariation disease BEFREE Using a mouse model expressing a mutant SEMA3A with diminished signaling capacity, we studied the influence of SEMA3A signaling at the NMJ with two denervation paradigms; a motor neuron disease model (the G93A-hSOD1 ALS mouse line) and an injury model (BotoxA-induced paralysis). 28103314 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.010 GeneticVariation disease BEFREE Expression of several genes associated with schizophrenia or autism including Sema3a, Trfr2 and Vldlr were found to be altered as were protein levels of Foxp2. 18248790 2008
CUI: C0013720
Disease: Ehlers-Danlos Syndrome
Ehlers-Danlos Syndrome 		0.010 GeneticVariation disease BEFREE Pathogenic variants in B3GALT6 have also been shown to cause Ehlers-Danlos syndrome spondylodysplastic type (spEDS-B3GALT6) and spondyloepimetaphyseal dysplasia with joint laxity type I (SEMD-JL1). 29443383 2018
CUI: C0018790
Disease: Cardiac Arrest
Cardiac Arrest 		0.010 GeneticVariation disease 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
CUI: C0036220
Disease: Kaposi Sarcoma
Kaposi Sarcoma 		0.010 GeneticVariation disease BEFREE Three heterozygous variants (c.458A>G (p.Asn153Ser), c.1253A>G (p.Asn418Ser), and c.1303G>A (p.Val435Ile)) were found in SEMA3A in three KS patients, two of which also had a mutation in FGFR1. 24522099 2014