DisGeNET - a database of gene-disease associations

Source: ORPHANET

Disease: Keratosis palmoplantaris papulosa ×

Gene: AAGAB ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _g

DPI _g

pLI

EI _gda

EL _gda

Score _gda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Gene

Disease

Score _gda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Entrez Id:	79719
Gene Symbol:	AAGAB

AAGAB

CUI:	C1835662
Disease:	Keratosis palmoplantaris papulosa

Keratosis palmoplantaris papulosa

0.720

GermlineCausalMutation

ORPHANET

Nonsense mutations in AAGAB cause punctate palmoplantar keratoderma type Buschke-Fischer-Brauer.

23000146

2012

Entrez Id:	79719
Gene Symbol:	AAGAB