DisGeNET - a database of gene-disease associations

AUTISM, SUSCEPTIBILITY TO, X-LINKED 6, C3550875

Variant: rs782624357 ×

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs782624357

rs782624357

TMLHE ; TMLHE-AS1

G

0.700

CausalMutation

CLINVAR

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

2015

dbSNP:

rs782624357

rs782624357

TMLHE ; TMLHE-AS1

G

0.700

SusceptibilityMutation

CLINVAR