DisGeNET - a database of gene-disease associations

rs80356491, SLC37A4;TRAPPC4

N. diseases: 3

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

Disease

N. SNPs_d

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

Glucose-6-phosphate transport defect

CUI:	C0268146
Disease:	Glucose-6-phosphate transport defect

63

0.925

0.080

11

119025271

frameshift variant

AG/-

del

1.7E-04

2.5E-04

0.700

1.000

1998

2017

Glycogen Storage Disease

CUI:	C0017919
Disease:	Glycogen Storage Disease

16

0.925

0.080

11

119025271

frameshift variant

AG/-

del

1.7E-04

2.5E-04

0.700

1.000

1998

2000

GLYCOGEN STORAGE DISEASE Ic

CUI:	C0342749
Disease:	GLYCOGEN STORAGE DISEASE Ic

4

0.925

0.080

11

119025271

frameshift variant

AG/-

del

1.7E-04

2.5E-04

0.700