Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker GENOMICS_ENGLAND Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. 26392352

2015
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker GENOMICS_ENGLAND The primary FD-causing mutation is an intronic nucleotide substitution that alters the splicing of the IKBKAP-derived transcript. 17985250

2008
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker GENOMICS_ENGLAND Identification of the first non-Jewish mutation in familial Dysautonomia. 12687659

2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial 		1.000 Biomarker GENOMICS_ENGLAND Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. 8102296

1993