rs121913028, ERCC1

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 GeneticVariation UNIPROT Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 GeneticVariation UNIPROT First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure. 17273966 2007
CEREBROOCULOFACIOSKELETAL SYNDROME 4
CUI: C1853100
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4
0.800 CausalMutation CLINVAR
Cockayne Syndrome
CUI: C0009207
Disease: Cockayne Syndrome
0.700 CausalMutation CLINVAR Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia. 23623389 2013
Xeroderma pigmentosum, group F
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
0.010 GeneticVariation BEFREE The ERCC1 point mutation F231L, located at the hydrophobic interaction interface of ERCC1 (excision repair cross-complementation group 1) and XPF (xeroderma pigmentosum complementation group F), leads to severe NER pathway deficiencies. 26085086 2015
Cerebrooculofacioskeletal Syndrome 1
CUI: C0220722
Disease: Cerebrooculofacioskeletal Syndrome 1
0.010 GeneticVariation BEFREE The Cerebro-oculo-facio-skeletal Syndrome Point Mutation F231L in the ERCC1 DNA Repair Protein Causes Dissociation of the ERCC1-XPF Complex. 26085086 2015