DisGeNET - a database of gene-disease associations

Source: ALL

Disease: Kabuki make-up syndrome ×

Variant: rs398123721 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123721

KMT2D

CUI:	C0796004
Disease:	Kabuki make-up syndrome

Kabuki make-up syndrome

0.700

CausalMutation

CLINVAR

Mutation Update for Kabuki Syndrome Genes KMT2D and KDM6A and Further Delineation of X-Linked Kabuki Syndrome Subtype 2.

27302555

2016

dbSNP:

rs398123721

KMT2D

CUI:	C0796004
Disease:	Kabuki make-up syndrome

Kabuki make-up syndrome

0.700

CausalMutation

CLINVAR

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

23320472

2013

dbSNP:

rs398123721

KMT2D

CUI:	C0796004
Disease:	Kabuki make-up syndrome

Kabuki make-up syndrome

0.700

CausalMutation

CLINVAR

MLL2 mutation spectrum in 45 patients with Kabuki syndrome.

21280141

2011

dbSNP:

rs398123721

KMT2D

CUI:	C0796004
Disease:	Kabuki make-up syndrome

Kabuki make-up syndrome

0.700

CausalMutation

CLINVAR

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome.

20711175

2010