DisGeNET - a database of gene-disease associations

ASH1L, ASH1 like histone lysine methyltransferase, 55870

N. diseases: 7; N. variants: 18

Source: CURATED ×

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:

rs1293246328

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Novel MCA/ID syndrome with ASH1L mutation.

28394464

2017

dbSNP:

rs1293246328

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

28191889

2017

dbSNP:

rs1553241570

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Novel MCA/ID syndrome with ASH1L mutation.

28394464

2017

dbSNP:

rs1553241570

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

28191889

2017

dbSNP:

rs1293246328

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1553241570

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs1293246328

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs1553241570

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs1293246328

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

CausalMutation

CLINVAR

dbSNP:

rs1553241570

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.800

CausalMutation

CLINVAR

dbSNP:

rs12734374

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs12734374

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0752347
Disease:

Lewy Body Disease

0.700

GeneticVariation

GWASCAT

GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.

31065058

2019

dbSNP:

rs7514174

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0596887
Disease:

mathematical ability

0.700

GeneticVariation

GWASCAT

Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.

30038396

2018

dbSNP:

rs10796944

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0678222
Disease:

Breast Carcinoma

0.700

GeneticVariation

GWASCAT

Association analysis identifies 65 new breast cancer risk loci.

29059683

2017

dbSNP:

rs539982914

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

GeneticVariation

UNIPROT

Novel MCA/ID syndrome with ASH1L mutation.

28394464

2017

dbSNP:

rs539982914

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

GeneticVariation

UNIPROT

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.

28191889

2017

dbSNP:

rs80142782

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0699791
Disease:

Stomach Carcinoma

0.700

GeneticVariation

GWASCAT

Identification of new susceptibility loci for gastric non-cardia adenocarcinoma: pooled results from two Chinese genome-wide association studies.

26701879

2017

dbSNP:

rs539982914

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

GeneticVariation

UNIPROT

De novo genic mutations among a Chinese autism spectrum disorder cohort.

27824329

2016

dbSNP:

rs539982914

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

GeneticVariation

UNIPROT

Diagnostic exome sequencing in persons with severe intellectual disability.

23033978

2012

dbSNP:

rs6696888

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C0023508
Disease:

White Blood Cell Count procedure

0.700

GeneticVariation

GWASDB

Genome-wide association study of white blood cell count in 16,388 African Americans: the continental origins and genetic epidemiology network (COGENT).

21738479

2011

dbSNP:

rs1553242856

Entrez Id:	55870;693140
Gene Symbol:	ASH1L;MIR555

ASH1L;MIR555

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

TCCTTG

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553245038

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

TGAGAA

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553247374

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553265189

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

CausalMutation

CLINVAR

dbSNP:

rs1553265703

Entrez Id:	55870
Gene Symbol:	ASH1L

ASH1L

CUI:	C4540478
Disease:

MENTAL RETARDATION, AUTOSOMAL DOMINANT 52

0.700

CausalMutation

CLINVAR