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 BEFREE Further, we developed a secondary assay that measures ELP1 splicing in FD patient-derived fibroblasts. 30085848

2019

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker BEFREE Our results show that postnatal correction of the underlying ELP1 splicing defect can rescue devastating disease phenotypes and is therefore a viable therapeutic approach for persons with FD. 30905397

2019

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker BEFREE We also found that pridopidine enhances production of IKAP in cells generated from FD patients. 30889183

2019

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. 29497044

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE Functional annotation of the 9q31.2 locus identified 8 candidate genes, including the elongator complex protein 1 gene (ELP1 or IKBKAP), which is mutated in patients with familial dysautonomia. 29626450

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE These findings provide insights into the mechanisms of IKBKAP exon 20 recognition, and pre-clinical proof of concept for an ASO-based targeted therapy for FD. 29672717

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 AlteredExpression BEFREE Lentivirus-mediated expression of ELP1-ExSpeU1 in FD fibroblasts improved ELP1 splicing and protein levels. 29701768

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE Founder mutation in IKBKAP gene causes vestibular impairment in familial dysautonomia. 29289840

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE We designed splice switching oligonucleotides (SSO) that blocks the intronic hnRNP A1 binding site, and demonstrate that this completely rescues splicing of IKBKAP exon 20 in FD patient fibroblasts and increases the amounts of IKAP protein. 29762696

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. 27317387

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the gene IKBKAP, also known as ELP1. 28667575

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE HSAN type III, known as familial dysautonomia (FD), results from a single base mutation in the gene <i>IKBKAP</i> that encodes a scaffolding unit (ELP1) for a multi-subunit complex known as Elongator. 28167615

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker BEFREE Finally, we identified several dysregulated miRNAs after carfilzomib treatment that target proteasome-associated mRNAs and determined that IKAP/hELP1 deficiency in FD pathology is correlated to an overactivity of the 26S proteasome. 28404519

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the <i>IKBKAP</i> gene that results in decreased IKK complex-associated protein (IKAP) protein production. 28553323

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 AlteredExpression BEFREE Aberrantly spliced <i>IKBKAP</i> mRNA abrogates IKK complex-associated protein (IKAP)/elongator protein 1 (ELP1) expression and results in a defect of neuronal cell development in FD. 28592461

2017

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE This new mouse model, TgFD9; Ikbkap(Δ20/flox) was created by introducing the complete human IKBKAP transgene with the major FD splice mutation (TgFD9) into a mouse that expresses extremely low levels of endogenous Ikbkap (Ikbkap(Δ20/flox)). 26769677

2016

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 AlteredExpression BEFREE MicroRNA screening identifies a link between NOVA1 expression and a low level of IKAP in familial dysautonomia. 27483351

2016

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 AlteredExpression BEFREE Familial Dysautonomia (FD) is a neurodegenerative disease in which aberrant tissue-specific splicing of IKBKAP exon 20 leads to reduction of IKAP protein levels in neuronal tissues. 27997532

2016

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 AlteredExpression BEFREE A promising potential treatment for FD is phosphatidylserine (PS); however, the manner by which PS elevates IKAP levels has yet to be identified. 26769675

2016

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 CausalMutation CLINVAR Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. 27065010

2016

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 GeneticVariation BEFREE The molecular hallmark of familial dysautonomia (FD) is the splicing mutation of Elp1 [also known as IκB kinase complex-associated protein (IKAP)] in the nervous system that is believed to be the primary cause of the devastating symptoms of this disease. 26261306

2015

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker BEFREE These findings suggest that the missplicing of IKBKAP results in reduced tRNA modifications in patients with FD and that RECTAS is a promising therapeutic drug candidate for FD. 25675486

2015

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker BEFREE Comparative wide transcriptome analysis of FD and WT hESC-derived neurons together with the analysis of human brains from FD and WT 12 weeks old embryos and experimental validation of the results confirmed that synaptic vesicular and neuronal transport genes are directly or indirectly affected by IKBKAP downregulation in FD neurons. 26437462

2015

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 GeneticVariation BEFREE Familial dysautonomia (FD) is characterized by severe and progressive sympathetic and sensory neuron loss caused by a highly conserved germline point mutation of the human ELP1/IKBKAP gene. 24917501

2014