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: 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 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 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 AlteredExpression disease BEFREE Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
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 LHGDN Constitutional downregulation of SEMA5A expression in autism. 17028446 2006
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: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome 		0.310 GeneticVariation disease BEFREE Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. 16953888 2006
CUI: C0010314
Disease: Cri-du-Chat Syndrome
Cri-du-Chat Syndrome 		0.310 GeneticVariation disease ORPHANET
CUI: C2931860
Disease: Monosomy 5p
Monosomy 5p 		0.300 GeneticVariation disease ORPHANET
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 AlteredExpression phenotype BEFREE Furthermore, semaphorin-5A levels were diminished in BRAF-positive cells, but not in BRAF-negative ones, which could be related to increased migration and invasion. 31116162 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Our aim is to investigate the prognostic value of semaphorin 5A and its potential role in lymphangiogenesis and invasion in cervical cancer. 29977159 2018
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE We demonstrated that Sema5A regulates in vitro cell migration and invasion and the formation of vasculogenic structures. 30454024 2018
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.100 GeneticVariation disease GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.100 GeneticVariation disease GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.100 GeneticVariation disease GWASCAT Genome-Wide Association Study of Late-Onset Myasthenia Gravis: Confirmation of TNFRSF11A and Identification of ZBTB10 and Three Distinct HLA Associations. 26562150 2016
CUI: C0037369
Disease: Smoking
Smoking 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		0.100 GeneticVariation phenotype GWASCAT Mercapturic Acids Derived from the Toxicants Acrolein and Crotonaldehyde in the Urine of Cigarette Smokers from Five Ethnic Groups with Differing Risks for Lung Cancer. 26053186 2015
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		0.100 GeneticVariation disease GWASDB Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. 23829686 2013
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Overpression of semaphorin 5A enhanced the expression of uPA, and synthetic or natural inhibitors of uPA abolished semaphorin 5A-induced cell migration and invasion. 23661031 2013
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.100 Biomarker phenotype BEFREE Taken together, the present work revealed a novel function of semaphorin 5A that the existence of semaphorin 5A could promote invasion and metastasis of gastric cancer by regulating MMP9 expression, at least partially, via the MEK/ERKs signal transduction pathway. 22821546 2013
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.100 GeneticVariation phenotype GWASDB Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population. 23251661 2012
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