DisGeNET - a database of gene-disease associations

MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3, C4225362

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:

rs200092283

rs200092283

TP53BP1 ; TUBGCP4

T

0.700

CausalMutation

CLINVAR

dbSNP:

rs794726855

rs794726855

TUBGCP4

AT

0.700

CausalMutation

CLINVAR

dbSNP:

rs794726856

rs794726856

TUBGCP4

C

0.700

CausalMutation

CLINVAR