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 Familial dysautonomia: History, genotype, phenotype and translational research. 27317387

2018

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C1142166
Disease: Brugada Syndrome (disorder)
Brugada Syndrome (disorder)
1.000 Biomarker GENOMICS_ENGLAND Genotype-phenotype dilemma in a case of sudden cardiac death with the E1053K mutation and a deletion in the SCN5A gene. 28391114

2018

Entrez Id: 8518
Gene Symbol: ELP1
ELP1
CUI: C0013364
Disease: Dysautonomia, Familial
Dysautonomia, Familial
1.000 Biomarker GENOMICS_ENGLAND Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. 26769677

2016

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease. 26303087

2016

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Molecular analysis, pathogenic mechanisms, and readthrough therapy on a large cohort of Kabuki syndrome patients. 24633898

2015

Entrez Id: 7068
Gene Symbol: THRB
THRB
CUI: C2940786
Disease: Thyroid Hormone Resistance Syndrome
Thyroid Hormone Resistance Syndrome
1.000 Biomarker GENOMICS_ENGLAND Classification and proposed nomenclature for inherited defects of thyroid hormone action, cell transport, and metabolism. 24847459

2014

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. 22901312

2013

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND In our study, we sequenced all 54 coding exons of the recently identified MLL2 gene in 34 patients with Kabuki syndrome. 21607748

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. 22126750

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Our data suggest that nearly all patients with typical KS facial features have pathogenic MLL2 mutations, although KS can be phenotypically variable. 22126750

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). 22126750

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Our results indicate that MLL2 is the major gene for Kabuki syndrome with a wide spectrum of de novo mutations and strongly suggest further genetic heterogeneity. 21607748

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Our analyses of the phenotype indicates that MLL2 mutation-positive and -negative patients differ systematically, and genetic heterogeneity of KS is not as extensive as previously suggested. 22126750

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Moreover, phenotypic variability of KS suggests that MLL2 testing should be considered even in atypical patients. 22126750

2012

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND We recently reported that Kabuki syndrome is caused by mutations in MLL2, a gene that encodes a Trithorax-group histone methyltransferase, a protein important in the epigenetic control of active chromatin states. 21671394

2011

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. 21671394

2011

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND These results are important for understanding the phenotypic consequences of MLL2 mutations for individuals and their families as well as for providing a basis for the identification of additional genes for Kabuki syndrome. 21671394

2011

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. 20711175

2010

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Follow-up Sanger sequencing detected MLL2 mutations in two of the three remaining individuals with Kabuki syndrome (cases) and in 26 of 43 additional cases. 20711175

2010

Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome
1.000 Biomarker GENOMICS_ENGLAND Our results strongly suggest that mutations in MLL2 are a major cause of Kabuki syndrome. 20711175

2010

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. 19320031

2009

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. 19320032

2009

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia. 19320028

2009

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NROB1. Disease: adrenal hypoplasia. 19309798

2009

Entrez Id: 190
Gene Symbol: NR0B1
NR0B1
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
X-linked Adrenal Hypoplasia
1.000 Biomarker GENOMICS_ENGLAND Novel human pathological mutations. Gene symbol: NR0B1. Disease: adrenal hypoplasia. 19320029

2009