DisGeNET - a database of gene-disease associations

MAF1, MAF1 homolog, negative regulator of RNA polymerase III, 84232

N. diseases: 15; N. variants: 1

Source: ALL

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:

rs34173062

Entrez Id:	81858;84232
Gene Symbol:	SHARPIN;MAF1

SHARPIN;MAF1

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs34173062

Entrez Id:	81858;84232
Gene Symbol:	SHARPIN;MAF1

SHARPIN;MAF1

CUI:	C0035242
Disease:

Respiratory Tract Diseases

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs34173062

Entrez Id:	81858;84232
Gene Symbol:	SHARPIN;MAF1

SHARPIN;MAF1

CUI:	C0200641
Disease:

Blood basophil count (lab test)

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016

dbSNP:

rs34173062

Entrez Id:	81858;84232
Gene Symbol:	SHARPIN;MAF1

SHARPIN;MAF1

CUI:	C0200638
Disease:

Eosinophil count procedure

0.700

GeneticVariation

GWASCAT

The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.

27863252

2016