DisGeNET - a database of gene-disease associations

rs1057519903, H3-3A

N. diseases: 28

Disease: Anaplastic astrocytoma ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

Anaplastic astrocytoma

CUI:	C0334579
Disease:	Anaplastic astrocytoma

0.010

GeneticVariation

BEFREE

The K27M mutation occurred in 35 of 129 glioblastomas (27.1%) and in 5 of 28 (17.9%) anaplastic astrocytomas.

2013