SEMA5A, semaphorin 5A, 9037

N. diseases: 85; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density
0.100 Biomarker disease HPO
Abnormality of cardiovascular system morphology
0.100 Biomarker disease HPO
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.010 AlteredExpression disease BEFREE Reverse transcription‑quantitative PCR (RT‑qPCR) and western blot analysis were performed to investigate the expression and post‑translational regulation of SEMA5A in lung adenocarcinoma cell lines. 31789397 2020
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.310 Biomarker disease BEFREE In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p<2 × 10(-5)) in the meta-analysis. 21703634 2011
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
0.310 Biomarker disease PSYGENET In addition, ALK, CASC4, and SEMA5A were strongly associated with alcohol dependence (p<2 × 10(-5)) in the meta-analysis. 21703634 2011
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 GeneticVariation disease BEFREE When applied to real GWAS data from the Alzheimer's Disease Neuroimaging Initiative (ADNI), our method detected two groups of SNPs: one in a region containing the apolipoprotein E (APOE) gene, and another in a region close to the semaphorin 5A (SEMA5A) gene. 28626864 2017
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement
0.100 GeneticVariation group GWASCAT Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
CUI: C0004114
Disease: Astrocytoma
Astrocytoma
0.010 AlteredExpression disease BEFREE These effects are plausibly compromised in high-grade human astrocytomas in which Sema5A expression is markedly reduced, hence leading to infiltrative and anaplastic characteristics. 21706053 2012
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 GeneticVariation disease BEFREE We then used Sanger sequencing to search for deleterious variants affecting SEMA5A in 142 patients with ASD. 26395558 2016
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 GeneticVariation disease BEFREE In this study, we evaluated the association between autism spectrum disorders (ASDs) and 10 single-nucleotide polymorphisms (SNPs) in the 5' region of the semaphorin 5A gene (<i>SEMA5A</i>) for 250 Korean trios including children with ASDs. 29209394 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 Biomarker disease BEFREE Of these, we focused on Sema5a, a gene involved in axon guidance, spine dynamics, Parkinson's disease and autism spectrum disorders. 31509188 2019
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
0.040 Biomarker disease BEFREE We take a step towards better understanding of the significance of SEMA5A pathways in autism that can guide interpretation of many other genetic results in ASDs. 23575222 2013
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 AlteredExpression disease BEFREE Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE We also demonstrated that expression of SEMA5A is reduced in brains from autistic patients, further implicating SEMA5A as an autism susceptibility gene. 19812673 2009
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease CTD_human Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE This study supports newly recognized effects of aberrant SEMA5A and CTNND2 dosage on severity of autistic and cognitive phenotypes. 26601658 2016
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease LHGDN Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
0.340 Biomarker disease BEFREE We take a step towards better understanding of the significance of SEMA5A pathways in autism that can guide interpretation of many other genetic results in ASDs. 23575222 2013
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Semaphorin 5A (Sema 5A) is involved in several autoimmune diseases through the regulation of immune cells. 28912336 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases
0.020 Biomarker group BEFREE Semaphorin5A (Sema5A) is involved essentially in immune cell regulation and is also implicated in the pathogenesis of autoimmune disorders. 28063160 2017
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate
0.100 Biomarker disease HPO
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 Biomarker phenotype BEFREE Ectopic expression of mouse full-length Sema5A in Panc1 (SEMA5A negative) cells significantly (p < 0.05) enhanced tumorigenesis, growth and metastasis in vivo as well as proliferation, invasiveness and homotypic aggregation in vitro. 20073063 2010
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 AlteredExpression phenotype BEFREE The present study suggests that overexpression of semaphorin 5A may contribute to gastric carcinogenesis, which reveals a novel expression and function of semaphorin 5A outside the nervous system and adds more weight to our knowledge of semaphorin 5A. 20026339 2010
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.010 Biomarker disease BEFREE Semaphorin 5A and protein phosphatase 1F are the common genes represented as major hubs in both the smoking and cancer related network.Six pathways, e.g. cell cycle, DNA replication, RNA transport, protein processing in endoplasmic reticulum, vascular smooth muscle contraction and endocytosis were commonly involved in smoking and lung cancer when comparing the top ten selected pathways. 22789435 2013
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE The importance of NO as a key signaling molecule was highlighted by inhibition of the NP-SEMF beneficial effects in the rat stroke model after blocking NO synthase (NOS). 31275094 2019