DisGeNET - a database of gene-disease associations

TRAPPC12, trafficking protein particle complex 12, 51112

N. diseases: 28; N. variants: 4

Disease: Encephalopathies ×

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:	C0085584
Disease:	Encephalopathies

Encephalopathies

0.110

GeneticVariation

group

BEFREE

Here, we report that variants in TRAPPC12 result in progressive childhood encephalopathy.

2017

CUI:	C0085584
Disease:	Encephalopathies

Encephalopathies

0.110

Biomarker

group

HPO