DisGeNET - a database of gene-disease associations

Hereditary pyropoikilocytosis, C0520739

Variant: rs138690664 ×

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs138690664

rs138690664

ALPL

0.010

GeneticVariation

BEFREE

Homozygosity for TNSALP missense mutation 1348C>T (Arg433Cys) accounted for this kindred's infantile HPP.

2006