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: C0002871
Disease: Anemia
Anemia 		0.100 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of co-occurring anxiety in major depression. 24047446 2013
CUI: C0005890
Disease: Body Height
Body Height 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C3808553
Disease: Bone marrow failure syndrome 1
Bone marrow failure syndrome 1 		0.300 Biomarker disease CTD_human
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND A nonsense mutation in the DNA repair factor Hebo causes mild bone marrow failure and microcephaly. 27185855 2016
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 GermlineCausalMutation disease ORPHANET ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function. 24507776 2014
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C2931245
Disease: Bone Marrow failure syndromes
Bone Marrow failure syndromes 		0.300 Biomarker disease CTD_human
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		0.100 Biomarker phenotype HPO
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: 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: 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: 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: 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: C0023530
Disease: Leukopenia
Leukopenia 		0.100 Biomarker disease HPO
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: C0025958
Disease: Microcephaly
Microcephaly 		0.110 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: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia 		0.100 Biomarker disease HPO
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: 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