DisGeNET - a database of gene-disease associations

HEPACAM, hepatic and glial cell adhesion molecule, 220296

N. diseases: 70; N. variants: 11

Disease: MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A ×

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

Variant

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF_EXOME

AF_GENOME

Disease

Disease Class

Score _vda

EI _vda

N. PMIDs

First Ref.

Last Ref.

dbSNP:

rs1555055028

0.882

0.160

124923996

missense variant

G/A

snv

CUI:	C3151355
Disease:	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

0.800

1.000

2011

dbSNP:

rs387907049

1.000

124923851

missense variant

G/A;T

snv

8.0E-06; 4.0E-06

CUI:	C3151355
Disease:	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

0.800

1.000

2011

dbSNP:

rs387907050

0.925

0.200

124924880

missense variant

C/T

snv

CUI:	C3151355
Disease:	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

0.800

1.000

2011

dbSNP:

rs387907051

1.000

124923807

missense variant

C/T

snv

CUI:	C3151355
Disease:	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

0.800

1.000

2011

dbSNP:

rs387907052

1.000

124924863

missense variant

G/A

snv

CUI:	C3151355
Disease:	MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A

0.800

1.000

2011