VIM, vimentin, 7431

N. diseases: 644; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121917775
rs121917775
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		0.800 GeneticVariation UNIPROT Targeted Exome Sequencing of Congenital Cataracts Related Genes: Broadening the Mutation Spectrum and Genotype-Phenotype Correlations in 27 Chinese Han Families. 28450710 2017
dbSNP: rs121917775
rs121917775
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		0.800 GeneticVariation UNIPROT Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs121917775
rs121917775
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		0.800 GeneticVariation UNIPROT Dominant cataract formation in association with a vimentin assembly disrupting mutation. 19126778 2009
dbSNP: rs121917775
rs121917775
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		A 0.800 CausalMutation CLINVAR
dbSNP: rs3758413
rs3758413
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs3758413
rs3758413
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C1445957
Disease:
Serum total cholesterol measurement 		T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs864309690
rs864309690
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C0009691
Disease:
Congenital cataract 		T 0.700 GeneticVariation CLINVAR Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing. 26694549 2016
dbSNP: rs1085307141
rs1085307141
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		0.700 GeneticVariation UNIPROT
dbSNP: rs864309690
rs864309690
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C3805411
Disease:
CATARACT 30 		T 0.700 CausalMutation CLINVAR
dbSNP: rs778098458
rs778098458
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE To address this issue, we here investigate whether absence of GFAP affects the phenotypic expression of motor neuron disease (MND) using an H46R mutant Cu/Zn superoxide dismutase-expressing mouse model of ALS (SOD1(H46R)). 21453731 2011
dbSNP: rs778098458
rs778098458
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C0085084
Disease:
Motor Neuron Disease 		0.010 GeneticVariation BEFREE To address this issue, we here investigate whether absence of GFAP affects the phenotypic expression of motor neuron disease (MND) using an H46R mutant Cu/Zn superoxide dismutase-expressing mouse model of ALS (SOD1(H46R)). 21453731 2011
dbSNP: rs1305547785
rs1305547785
Entrez Id: 7431;100507347
Gene Symbol: VIM;VIM-AS1
VIM;VIM-AS1
CUI: C0086543
Disease:
Cataract 		0.010 GeneticVariation BEFREE Here, we demonstrate that substoichiometric amounts of vimentin carrying the R113C point mutation disrupted the endogenous vimentin network in all tissues examined but caused a disease phenotype only in the eye lens, leading to a posterior cataract that was paralleled by the formation of extensive protein aggregates in lens fibre cells. 18940912 2008