DisGeNET - a database of gene-disease associations

MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE, C4015080

Variant: rs144716013 ×

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:

rs144716013

rs144716013

CENPE

0.800

GeneticVariation

UNIPROT

Mutations in CENPE define a novel kinetochore-centromeric mechanism for microcephalic primordial dwarfism.

2014

dbSNP:

rs144716013

rs144716013

CENPE

T

0.800

GeneticVariation

CLINVAR

dbSNP:

rs144716013

rs144716013

CENPE

T

0.800

CausalMutation

CLINVAR