DisGeNET - a database of gene-disease associations

TMLHE, trimethyllysine hydroxylase, epsilon, 55217

N. diseases: 11; N. variants: 7

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:

rs782001959

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

GeneticVariation

UNIPROT

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

23092983

2012

dbSNP:

rs869320708

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

GeneticVariation

UNIPROT

Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE.

23092983

2012

dbSNP:

rs782001959

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

GeneticVariation

UNIPROT

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

21865298

2011

dbSNP:

rs869320708

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

GeneticVariation

UNIPROT

Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.

21865298

2011

dbSNP:

rs782001959

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs869320708

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.800

SusceptibilityMutation

CLINVAR

dbSNP:

rs147751295

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C1861172
Disease:

Venous Thromboembolism

0.700

GeneticVariation

GWASCAT

Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism.

31420334

2019

dbSNP:

rs150926226

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C2825857
Disease:

Factor VIII measurement

0.700

GeneticVariation

GWASCAT

Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels.

30586737

2019

dbSNP:

rs782624357

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.700

CausalMutation

CLINVAR

Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation.

25943046

2015

dbSNP:

rs782624357

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C3550875
Disease:

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6

0.700

SusceptibilityMutation

CLINVAR

dbSNP:

rs782785654

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C1840379
Disease:

Cerebellar vermis hypoplasia

0.700

GeneticVariation

CLINVAR

dbSNP:

rs782785654

Entrez Id:	55217;100507404
Gene Symbol:	TMLHE;TMLHE-AS1

TMLHE;TMLHE-AS1

CUI:	C0175754
Disease:

Agenesis of corpus callosum

0.700

GeneticVariation

CLINVAR

dbSNP:

rs574386

Entrez Id:	10251;55217
Gene Symbol:	SPRY3;TMLHE

SPRY3;TMLHE

CUI:	C0041327
Disease:

Tuberculosis, Pulmonary

0.010

GeneticVariation

BEFREE

BACKGROUND Findings regarding the association of the single-nucleotide polymorphisms (SNPs) rs4986790 and rs4986791 in Toll-like receptor 4 and rs187084, rs574386, and rs352139 in Toll-like receptor 9 (TLR9) with pulmonary tuberculosis (PTB) susceptibility are inconsistent.

25889916

2015