DisGeNET - a database of gene-disease associations

rs386834039, POMGNT1;TSPAN1

N. diseases: 4

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.

Muscle eye brain disease

CUI:	C0457133
Disease:	Muscle eye brain disease

0.851

0.120

46193874

stop gained

G/A

snv

7.0E-06

0.700

1.000

2006

2012

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

CUI:	C3150412
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 3

0.851

0.120

46193874

stop gained

G/A

snv

7.0E-06

0.700

1.000

2006

2012

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3

CUI:	C3150417
Disease:	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3

0.851

0.120

46193874

stop gained

G/A

snv

7.0E-06

0.700

1.000

2006

2012

RETINITIS PIGMENTOSA 76

CUI:	C4310704
Disease:	RETINITIS PIGMENTOSA 76

0.851

0.120

46193874

stop gained

G/A

snv

7.0E-06

0.700

1.000

2006

2012