DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Acute myelomonocytic leukemia ×

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

DSI _v

DPI _v

Chr

Position

Consequence

Alleles

Class

AF _EXOME

AF _GENOME

Disease

Score _vda

EI _vda

N_.PMIDs

FirstRef.

LastRef.

dbSNP:

rs1057519748

rs1057519748

RUNX1

0.827

0.120

21

34859486

stop gained

G/A

snv

CUI:	C0023479
Disease:	Acute myelomonocytic leukemia

Acute myelomonocytic leukemia

0.010

1.000

2017

2017

dbSNP:

rs1360215152

rs1360215152

SH2B3

0.882

0.040

12

111418746

synonymous variant

C/T

snv

2.1E-05

CUI:	C0023479
Disease:	Acute myelomonocytic leukemia

Acute myelomonocytic leukemia

0.010

1.000

2017

2017

dbSNP:

rs1446346250

rs1446346250

RUNX1

0.882

0.040

21

34834533

synonymous variant

G/A

snv

7.0E-06

CUI:	C0023479
Disease:	Acute myelomonocytic leukemia

Acute myelomonocytic leukemia

0.010

1.000

2017

2017