DisGeNET - a database of gene-disease associations

rs61752133, PEX26

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.

PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)

CUI:	C3888385
Disease:	PEROXISOME BIOGENESIS DISORDER 7A (ZELLWEGER)

7

0.925

0.080

22

18079896

frameshift variant

-/T

delins

0.700

PEROXISOME BIOGENESIS DISORDER 7B

CUI:	C3553951
Disease:	PEROXISOME BIOGENESIS DISORDER 7B

5

0.925

0.080

22

18079896

frameshift variant

-/T

delins

0.700