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 Biomarker disease GENOMICS_ENGLAND 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: C3554021
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA
HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA 		0.600 Biomarker disease CTD_human
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: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 Biomarker disease BEFREE SEMA3A and SEMA7A were screened by Sanger sequencing in altogether 50 Finnish HH patients (34 with Kallmann syndrome (KS; HH with hyposmia/anosmia) and 16 with normosmic HH (nHH)). 24522099 2014
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 AlteredExpression disease BEFREE By performing knockdown experiments for Chd7 in Xenopus laevis embryos, we found abnormalities in the expression pattern of Sema3a, a protein involved in the pathogenesis of Kallmann syndrome, in vivo. 24728844 2014
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 Biomarker disease BEFREE SEMA3A is therefore a new gene whose loss-of-function is involved in KS. 22416012 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 GermlineCausalMutation disease ORPHANET SEMA3A is therefore a new gene whose loss-of-function is involved in KS. 22416012 2012
CUI: C0162809
Disease: Kallmann Syndrome
Kallmann Syndrome 		0.360 Biomarker disease BEFREE Strikingly, mice lacking SEMA3A or semaphorin signalling through both NRP1 and NRP2 recapitulate the anatomical features of a single case of KS analysed so far, and may therefore be used as genetic models to elucidate the pathogenesis of KS. 21059704 2011
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 AlteredExpression disease BEFREE Stilbenoid-Mediated Epigenetic Activation of Semaphorin 3A in Breast Cancer Cells Involves Changes in Dynamic Interactions of DNA with DNMT3A and NF1C Transcription Factor. 31327173 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 AlteredExpression disease BEFREE Among 1,980 breast cancer cases from a public database, the ratio of VEGF and SEMA3A in primary tumors (n = 450) of hormone-receptor-negative breast cancer is associated with ARHGAP17 expression inversely, and with disease free survival. 29971782 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET In a sample of 245 nuclear families (n=1074) originating from the same geographical region as the families revealing the linkage, SNP and microsatellite association analyses of the four regional candidate genes, GRM3, RELN, SEMA3A and VGF, revealed no significant association to the clinical diagnosis of schizophrenia. 17684500 2008
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET The PLXNA2 ligand semaphorin 3A has been shown to be upregulated in the cerebellum of individuals with schizophrenia. 16402134 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 AlteredExpression disease BEFREE The PLXNA2 ligand semaphorin 3A has been shown to be upregulated in the cerebellum of individuals with schizophrenia. 16402134 2006
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 AlteredExpression disease LHGDN The results show that sema3A is elevated in schizophrenia, and is associated with downregulation of genes involved in synaptic formation and maintenance. 12610647 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease PSYGENET The results show that sema3A is elevated in schizophrenia, and is associated with downregulation of genes involved in synaptic formation and maintenance. 12610647 2003
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.320 Biomarker disease BEFREE The results show that sema3A is elevated in schizophrenia, and is associated with downregulation of genes involved in synaptic formation and maintenance. 12610647 2003
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.320 GeneticVariation disease UNIPROT
CUI: C0271623
Disease: Hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism 		0.110 AlteredExpression disease BEFREE Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. 29432577 2018
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		0.110 Biomarker disease BEFREE SEMA3A variation is significantly and replicably associated with comorbid AD and MD in African American participants. 29071344 2017
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