Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Molecular diagnoses of KS were established by identification of pathogenic variants in KMT2D (n = 5) and KDM6A (n = 4). 29907798

2019
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Epigenetic control of the immune system: a lesson from Kabuki syndrome. 26411453

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND We thus extend the range of KS-associated malformations and propose a hypothetical connection between KMT2D and Notch signaling.© 2016 Wiley Periodicals, Inc. 27530281

2016
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND We postulate that Kabuki syndrome may produce this type of ocular phenotype as a result of extensive interaction between KMT2D, WAR complex proteins and PAXIP1. 26049589

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Immunologic assessment and KMT2D mutation detection in Kabuki syndrome. 25142838

2015
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Kabuki syndrome (KS) is a multiple congenital anomalies syndrome characterized by characteristic facial features and varying degrees of mental retardation, caused by mutations in KMT2D/MLL2 and KDM6A/UTX genes. 24633898

2014
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Clinical and molecular spectrum of renal malformations in Kabuki syndrome. 23535010

2013
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 double the number of MLL2 mutations in KS reported so far and widen the spectrum of MLL2 mutations and disease mechanisms in KS. 21280141

2011
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. 15690368

2005
Entrez Id: 8085
Gene Symbol: KMT2D
KMT2D
CUI: C0796004
Disease: Kabuki make-up syndrome
Kabuki make-up syndrome 		1.000 Biomarker GENOMICS_ENGLAND Structure and expression pattern of human ALR, a novel gene with strong homology to ALL-1 involved in acute leukemia and to Drosophila trithorax. 9247308

1997