DisGeNET - a database of gene-disease associations

TUBGCP4, tubulin gamma complex associated protein 4, 27229

N. diseases: 40; N. variants: 5

Disease: Microcephaly with Chorioretinopathy, Autosomal Recessive ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Disease

Score _gda

Association Type

Type

Original DB

Sentence supporting the association

PMID

PMID Year

CUI:	C3502492
Disease:	Microcephaly with Chorioretinopathy, Autosomal Recessive

Microcephaly with Chorioretinopathy, Autosomal Recessive

0.600

GeneticVariation

disease

CLINVAR

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

25817018

2015

CUI:	C3502492
Disease:	Microcephaly with Chorioretinopathy, Autosomal Recessive

Microcephaly with Chorioretinopathy, Autosomal Recessive

0.600

GermlineCausalMutation

disease

ORPHANET

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

25817018

2015

CUI:	C3502492
Disease:	Microcephaly with Chorioretinopathy, Autosomal Recessive

Microcephaly with Chorioretinopathy, Autosomal Recessive

0.600

Biomarker

disease

CTD_human