DisGeNET - a database of gene-disease associations

PPOX, protoporphyrinogen oxidase, 5498

N. diseases: 53; N. variants: 28

Disease: Abnormal blistering of the skin ×

Source: ALL

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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

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:

rs1057518798

rs1057518798

1.000

0.120

1

161170939

stop gained

G/A

snv

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.700

dbSNP:

rs148292941

rs148292941

1

161171095

stop gained

T/C;G

snv

8.0E-06

6.3E-05

CUI:	C2132198
Disease:	Abnormal blistering of the skin

Abnormal blistering of the skin

0.700