SEMA3D, semaphorin 3D, 223117

N. diseases: 44; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs11771699
rs11771699
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs4727099
rs4727099
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7800072
rs7800072
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs7800072
rs7800072
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0205682
Disease:
Waist-Hip Ratio 		G 0.700 GeneticVariation GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
dbSNP: rs1057519374
rs1057519374
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C1843156
Disease:
Progressive sensorineural hearing impairment 		A 0.700 CausalMutation CLINVAR Variable expressivity and genetic heterogeneity involving DPT and SEMA3D genes in autosomal dominant familial Meniere's disease. 27876815 2017
dbSNP: rs141893504
rs141893504
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0019569
Disease:
Hirschsprung Disease 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs993312
rs993312
Entrez Id: 223117
Gene Symbol: SEMA3D
SEMA3D
CUI: C0264408
Disease:
Childhood asthma 		0.010 GeneticVariation BEFREE Among the 4 top single nucleotide polymorphisms replicated in BioVU, rs993312 in Sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D) was significant (P = .0083) and displayed stronger association among African Americans (P = .0004 in BioVU [mean exacerbations, 3.91 vs 1.53]; P = .0089 in the Childhood Asthma Management Program [mean exacerbations, 6.0 vs 3.25]). 26073756 2015