ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation disease BEFREE Subgroup analysis based on ALS site of onset revealed an association between ERCC6L2 rs591486 and ALS with limb onset. 30879219 2019
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		0.010 GeneticVariation phenotype BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.010 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C2986691
Disease: Inherited bone marrow failure syndrome
Inherited bone marrow failure syndrome 		0.010 Biomarker disease BEFREE ERCC6L2-associated inherited bone marrow failure syndrome. 29633571 2018
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease 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
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 GeneticVariation disease BEFREE Top results in the SNP-level tests provided suggestive evidence (P < 5.0E-06) that the effect of pesticide exposure on PD risk may be modified by SNPs in the ERCC6L2 gene (P = 2.4E-06), which was also supported by suggestive evidence in the gene-level analysis (P = 4.7E-05). 27545685 2016
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Biallelic variants in the ERCC excision repair 6 like 2 gene (<i>ERCC6L2</i>) are known to cause bone marrow failure (BMF) due to defects in DNA repair and mitochondrial function. 29987015 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.030 GeneticVariation disease BEFREE Collectively, these observations identify a distinct bone-marrow-failure syndrome due to mutations in ERCC6L2, a gene implicated in DNA repair and mitochondrial function. 24507776 2014
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.100 GeneticVariation phenotype GWASCAT New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries. 30804560 2019
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: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations. 25055868 2014
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of co-occurring anxiety in major depression. 24047446 2013
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of co-occurring anxiety in major depression. 24047446 2013
CUI: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia 		0.100 Biomarker phenotype HPO
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.100 Biomarker phenotype HPO
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 GeneticVariation disease BEFREE Bone marrow failure without developmental delay or microcephaly with ERCC6L2 mutation has not been previously described. 28815563 2018
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.110 Biomarker disease HPO
CUI: C4707228
Disease: Inherited acute myeloid leukemia
Inherited acute myeloid leukemia 		0.300 GermlineCausalMutation disease ORPHANET ERCC6L2 defines a novel entity within inherited acute myeloid leukemia. 30936069 2019
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		0.300 Biomarker disease CTD_human