Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 CausalMutation CLINVAR Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A. 29057985

2017
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 CausalMutation CLINVAR Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing. 27004399

2016
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation CLINVAR Whole-exome sequencing is a powerful approach for establishing the etiological diagnosis in patients with intellectual disability and microcephaly. 26846091

2016
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation CLINVAR [Cockayne syndrome: a new mutation in the ERCC8 gene]. 22829088

2012
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 CausalMutation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation CLINVAR Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome. 19894250

2010
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 CausalMutation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0751039
Disease: Cockayne Syndrome, Type I
Cockayne Syndrome, Type I 		0.800 GeneticVariation CLINVAR Cockayne syndrome type A: novel mutations in eight typical patients. 16865293

2006
Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C3553298
Disease: UV-SENSITIVE SYNDROME 2
UV-SENSITIVE SYNDROME 2 		0.600 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		0.160 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.110 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0003079
Disease: Anisocoria
Anisocoria 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0013362
Disease: Dysarthria
Dysarthria 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0151611
Disease: Electroencephalogram abnormal
Electroencephalogram abnormal 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0152025
Disease: Polyneuropathy
Polyneuropathy 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0234979
Disease: Dysdiadochokinesis
Dysdiadochokinesis 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0235946
Disease: Cerebral atrophy
Cerebral atrophy 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0277960
Disease: Dry hair
Dry hair 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0349506
Disease: Photosensitivity of skin
Photosensitivity of skin 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0349588
Disease: Short stature
Short stature 		0.100 CausalMutation CLINVAR

Entrez Id: 1161
Gene Symbol: ERCC8
ERCC8
CUI: C0393525
Disease: Progressive cerebellar ataxia
Progressive cerebellar ataxia 		0.100 CausalMutation CLINVAR