Gene: ELP1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease MGD
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease CTD_human
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease GENOMICS_ENGLAND Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. 8102296 1993
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 CausalMutation disease CLINVAR Statistical features of human exons and their flanking regions. 9536098 1998
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease UNIPROT These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD. 11179021 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 11179008 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease CLINVAR These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD. 11179021 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD. 11179021 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 CausalMutation disease CLINVAR These findings demonstrate that mutations in the gene encoding IKAP are responsible for FD. 11179021 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 CausalMutation disease CLINVAR Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 11179008 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease UNIPROT Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. 11179008 2001
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease LHGDN Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. 12102458 2002
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 CausalMutation disease CLINVAR Familial dysautonomia: detection of the IKBKAP IVS20(+6T --> C) and R696P mutations and frequencies among Ashkenazi Jews. 12116234 2002
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 AlteredExpression disease BEFREE EGCG corrects aberrant splicing of IKAP mRNA in cells from patients with familial dysautonomia. 14521957 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease LHGDN We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. 12577200 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE We recently identified a mutation in the I-kappa B kinase associated protein (IKBKAP) gene as the major cause of familial dysautonomia (FD), a recessive sensory and autonomic neuropathy. 12577200 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE Familial dysautonomia (FD) is the most common congenital sensory neuropathy in Ashkenazi Jews, caused by a single major mutation in the IKBKAP gene. 12831599 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease BEFREE These findings suggest that in vivo supplementation with tocotrienols may elevate IKBKAP gene expression and in turn increase the amount of functional IKAP protein produced in FD patients. 12788105 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease GENOMICS_ENGLAND Identification of the first non-Jewish mutation in familial Dysautonomia. 12687659 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE In 2001, we identified two mutations in the IKBKAP gene that result in FD. 12914982 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 Biomarker disease BEFREE The gene for FD was recently identified as IKBKAP. 12885336 2003
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE Familial dysautonomia (FD) is caused by mutations in IKBKAP, and all cases described to date involve an intron 20 mutation that results in a unique pattern of tissue-specific exon skipping. 14709595 2004
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE Mutations in human Elp1p (IKAP) are a known cause of familial dysautonomia (FD). 15780940 2005
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 AlteredExpression disease BEFREE These findings provide new insight into the pathophysiology of FD and demonstrate the value of therapeutic approaches designed to elevate cellular levels of functional IKAP and MAO A. 16125677 2005
Entrez Id: 8518
Gene Symbol: ELP1
ELP1 		1.000 GeneticVariation disease BEFREE The common familial dysautonomia (FD) mutation causes a splicing defect that leads to production of both wild-type (WT) and mutant (MU) IKBKAP mRNA. 16032383 2005