DisGeNET - a database of gene-disease associations

TMLHE, trimethyllysine hydroxylase, epsilon, 55217

N. diseases: 11; N. variants: 7

Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 ×

Variant: rs869320708 ×

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:

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:

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:

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