DisGeNET - a database of gene-disease associations

Source: ALL

Variant: rs80338673 ×

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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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs80338673

GBE1

0.882

0.120

81577972

missense variant

C/T

snv

1.6E-05

CUI:	C4017118
Disease:	ADULT POLYGLUCOSAN BODY NEUROPATHY

ADULT POLYGLUCOSAN BODY NEUROPATHY

0.700

dbSNP:

rs80338673

GBE1

0.882

0.120

81577972

missense variant

C/T

snv

1.6E-05

CUI:	C4017116
Disease:	GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

GLYCOGEN STORAGE DISEASE IV, COMBINED HEPATIC AND MYOPATHIC

0.700

dbSNP:

rs80338673

GBE1

0.882

0.120

81577972

missense variant

C/T

snv

1.6E-05

CUI:	C0017923
Disease:	Glycogen Storage Disease Type IV

Glycogen Storage Disease Type IV

0.700

dbSNP:

rs80338673

GBE1

0.882

0.120

81577972

missense variant

C/T

snv

1.6E-05

CUI:	C1849722
Disease:	Polyglucosan Body Disease, Adult Form

Polyglucosan Body Disease, Adult Form

0.700