DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: leukemia ×

Gene: NT5C1A ×

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:	84618
Gene Symbol:	NT5C1A

NT5C1A

CUI:	C0023418
Disease:	leukemia

leukemia

0.010

GeneticVariation

BEFREE

While investigating leukemia susceptibility genes, we discovered a very rare p.L254P NT5C1A missense variant in the substrate recognition motif.

2016