DisGeNET - a database of gene-disease associations

rs267607218, LIPA

N. diseases: 2

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.

Wolman Disease

CUI:	C0043208
Disease:	Wolman Disease

35

0.925

0.080

10

89223710

stop gained

C/A

snv

4.0E-06

3.5E-05

0.710

1.000

1996

2015

Cholesterol Ester Storage Disease

CUI:	C0008384
Disease:	Cholesterol Ester Storage Disease

5

0.925

0.080

10

89223710

stop gained

C/A

snv

4.0E-06

3.5E-05

0.700