DisGeNET - a database of gene-disease associations

TRAPPC4, trafficking protein particle complex 4, 51399

N. diseases: 19; N. variants: 13

Disease: Glycogen Storage Disease ×

Source: ALL

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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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80356491

Entrez Id:	2542;51399
Gene Symbol:	SLC37A4;TRAPPC4

SLC37A4;TRAPPC4

CUI:	C0017919
Disease:

Glycogen Storage Disease

0.700

CausalMutation

CLINVAR

Molecular analysis in glycogen storage disease 1 non-A: DHPLC detection of the highly prevalent exon 8 mutations of the G6PT1 gene in German patients.

10923042

2000

dbSNP:

rs80356491

Entrez Id:	2542;51399
Gene Symbol:	SLC37A4;TRAPPC4

SLC37A4;TRAPPC4

CUI:	C0017919
Disease:

Glycogen Storage Disease

0.700

CausalMutation

CLINVAR

Molecular diagnosis of type 1c glycogen storage disease.

10323254

1999

dbSNP:

rs80356491

Entrez Id:	2542;51399
Gene Symbol:	SLC37A4;TRAPPC4

SLC37A4;TRAPPC4

CUI:	C0017919
Disease:

Glycogen Storage Disease

0.700

CausalMutation

CLINVAR

A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic.

9758626

1998