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
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease BEFREE That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism. 28703319 2017
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease BEFREE SPRY3 maps adjacent to X-linked Trimethyllysine hydroxylase epsilon (TMLHE), recently identified as an autism susceptibility gene. 26089202 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE A 4-year-old male with autism and two episodes of neurodevelopmental regression was identified to have a mutation in the TMLHE gene, which encodes the first enzyme in the carnitine biosynthesis pathway, and concurrent carnitine deficiency. 25943046 2015
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease BEFREE Additionally, six of seven autistic male siblings of probands in male-male multiplex families had the deletion, suggesting that TMLHE deficiency is a risk factor for autism (metaanalysis Z-score = 2.90 and P = 0.0037), although with low penetrance (2-4%). 22566635 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. 23092983 2012
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 GeneticVariation disease BEFREE 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: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease CTD_human
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		0.460 Biomarker disease HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 GeneticVariation group BEFREE A nonsense mutation in TMLHE, which encodes the ɛ-N-trimethyllysine hydroxylase catalyzing the first step of carnitine biosynthesis, was identified in two brothers with autism and ID. 23092983 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.110 Biomarker group HPO
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		0.100 GeneticVariation phenotype GWASCAT Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. 31420334 2019
CUI: C2825857
Disease: Factor VIII measurement
Factor VIII measurement 		0.100 GeneticVariation phenotype GWASCAT Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels. 30586737 2019
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		0.100 GeneticVariation disease CLINVAR
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.100 Biomarker disease HPO
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		0.100 GeneticVariation phenotype CLINVAR
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C0342788
Disease: Renal carnitine transport defect
Renal carnitine transport defect 		0.010 Biomarker disease BEFREE That brain carnitine deficiency might cause autism is suggested by reports of severe carnitine deficiency in autism and by evidence that TMLHE deficiency - a defect in carnitine biosynthesis - is a risk factor for autism. 28703319 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		0.010 GeneticVariation disease BEFREE By screening the TMLHE coding sequence in 501 male patients with ASD, we identified two additional missense substitutions not found in controls and not reported in databases. 23092983 2012