DisGeNET - a database of gene-disease associations

EHMT1, euchromatic histone lysine methyltransferase 1, 79813

N. diseases: 371; N. variants: 41

Disease: KLEEFSTRA SYNDROME 1 ×

Variant: rs1057518913 ×

Source: ALL

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:

rs1057518913

rs1057518913

Entrez Id:	79813
Gene Symbol:	EHMT1

EHMT1

CUI:	C0795833
Disease:

KLEEFSTRA SYNDROME 1

C

0.700

CausalMutation

CLINVAR