DisGeNET - a database of gene-disease associations

leukemia, C0023418

Variant: rs1444068378 ×

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

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs1444068378

rs1444068378

FHL2

0.010

GeneticVariation

BEFREE

Moreover, p.A91V homozygosity has been linked to various pathological states including FHL and lymphocytic leukaemias.

2013