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 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: 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 ORPHANET
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: C2931860
Disease: Monosomy 5p
Monosomy 5p 		0.300 GeneticVariation disease ORPHANET
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
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: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
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: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		0.100 Biomarker disease HPO
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.100 Biomarker disease HPO
CUI: C0221352
Disease: Syndactyly of fingers
Syndactyly of fingers 		0.100 Biomarker disease HPO
CUI: C0240635
Disease: Byzanthine arch palate
Byzanthine arch palate 		0.100 Biomarker disease HPO
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: C0678230
Disease: Congenital Epicanthus
Congenital Epicanthus 		0.100 Biomarker disease HPO
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: C4021657
Disease: Abnormality of bone mineral density
Abnormality of bone mineral density 		0.100 Biomarker disease HPO
CUI: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		0.100 Biomarker disease HPO
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.050 AlteredExpression disease BEFREE Our earlier reports demonstrated that membrane-bound semaphorin 5A (SEMA5A) is expressed in aggressive pancreatic cancer cells and tumours, and promotes tumour growth and metastasis. 22782341 2012