Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.600 CausalMutation disease CLINVAR Improvement of regressive autism symptoms in a child with TMLHE deficiency following carnitine supplementation. 25943046 2015
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.600 GeneticVariation disease UNIPROT Analysis of the chromosome X exome in patients with autism spectrum disorders identified novel candidate genes, including TMLHE. 23092983 2012
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.600 GeneticVariation disease 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
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.600 SusceptibilityMutation disease CLINVAR
CUI: C3550875
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6 		0.600 Biomarker disease GENOMICS_ENGLAND