DisGeNET - a database of gene-disease associations

Kaufman oculocerebrofacial syndrome, C1855663

Variant: rs398123023 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs398123023

rs398123023

UBE3B

0.800

GeneticVariation

UNIPROT

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome.

2012

dbSNP:

rs398123023

rs398123023

UBE3B

C

0.800

CausalMutation

CLINVAR