DisGeNET - a database of gene-disease associations

Source: CURATED

Disease: Leukemia, Myelocytic, Acute ×

Variant: rs104894366 ×

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

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs104894366

KRAS

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.700

CausalMutation

CLINVAR

Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

24803665

2014

dbSNP:

rs104894366

KRAS

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.700

CausalMutation

CLINVAR

Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disorders.

20949621

2011

dbSNP:

rs104894366

KRAS

CUI:	C0023467
Disease:	Leukemia, Myelocytic, Acute

Leukemia, Myelocytic, Acute

0.700

CausalMutation

CLINVAR

Germline KRAS mutations cause Noonan syndrome.

16474405

2006