ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs689860
rs689860
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs72743974
rs72743974
Entrez Id: 158434;375748
Gene Symbol: LOC158434;ERCC6L2
LOC158434;ERCC6L2
CUI: C0016529
Disease:
Forced expiratory volume function 		A 0.700 GeneticVariation GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
dbSNP: rs12346945
rs12346945
Entrez Id: 158435;375748
Gene Symbol: LOC158435;ERCC6L2
LOC158435;ERCC6L2
CUI: C0037369
Disease:
Smoking 		0.700 GeneticVariation 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
dbSNP: rs12346945
rs12346945
Entrez Id: 158435;375748
Gene Symbol: LOC158435;ERCC6L2
LOC158435;ERCC6L2
CUI: C1519383
Disease:
Smoking Behaviors 		0.700 GeneticVariation 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
dbSNP: rs10819861
rs10819861
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C0429028
Disease:
QT interval feature (observable entity) 		G 0.700 GeneticVariation GWASCAT Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. 25055868 2014
dbSNP: rs7867155
rs7867155
Entrez Id: 158435;375748
Gene Symbol: LOC158435;ERCC6L2
LOC158435;ERCC6L2
CUI: C1269683
Disease:
Major Depressive Disorder 		0.700 GeneticVariation GWASCAT Genome-wide association study of co-occurring anxiety in major depression. 24047446 2013
dbSNP: rs7867155
rs7867155
Entrez Id: 158435;375748
Gene Symbol: LOC158435;ERCC6L2
LOC158435;ERCC6L2
CUI: C0003467
Disease:
Anxiety 		0.700 GeneticVariation GWASCAT Genome-wide association study of co-occurring anxiety in major depression. 24047446 2013
dbSNP: rs147948835
rs147948835
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C3810350
Disease:
Bone marrow failure syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs886037662
rs886037662
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C3810350
Disease:
Bone marrow failure syndrome 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs591486
rs591486
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE The current study provides preliminary indication for an implication of ERCC6L2 rs591486 in ALS development, as a possible genetic risk factor. 30879219 2019
dbSNP: rs591486
rs591486
Entrez Id: 375748
Gene Symbol: ERCC6L2
ERCC6L2
CUI: C0030567
Disease:
Parkinson Disease 		0.010 GeneticVariation BEFREE A recent study supports that rs591486 across the ERCC6L2 gene and exposure to pesticides seem to have a joint effect on the development of Parkinson's disease, a disease which shares a few common characteristics with ALS. 30879219 2019