Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Functional and molecular studies in primary carnitine deficiency. 28841266 2017
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Carnitine transport and fatty acid oxidation. 26828774 2016
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation. 25665836 2015
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency. 25846890 2015
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Primary Carnitine deficiency in the Faroe Islands: health and cardiac status in 76 adult patients diagnosed by screening. 23963628 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Carnitine levels in 26,462 individuals from the nationwide screening program for primary carnitine deficiency in the Faroe Islands. 23653224 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 23379544 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Residual OCTN2 transporter activity, carnitine levels and symptoms correlate in patients with primary carnitine deficiency. 27896095 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Analysis of genetic mutations in Chinese patients with systemic primary carnitine deficiency. 25132046 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Primary carnitine deficiency: novel mutations and insights into the cardiac phenotype. 23379544 2014
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115 2013
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. 23430798 2013
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Primary Carnitine (OCTN2) Deficiency Without Neonatal Carnitine Deficiency. 23430798 2013
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Carnitine uptake defect (primary carnitine deficiency): risk in genotype-phenotype correlation. 23520115 2013
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Genotype-phenotype correlation in primary carnitine deficiency. 21922592 2012
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Primary Carnitine Deficiency Presents Atypically with Long QT Syndrome: A Case Report. 23430858 2012
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579 2011
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Glycosylation of the OCTN2 carnitine transporter: study of natural mutations identified in patients with primary carnitine deficiency. 21126579 2011
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 GeneticVariation disease CLINVAR Diagnoses of newborns and mothers with carnitine uptake defects through newborn screening. 20074989 2010
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. 20027113 2010
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG
0.100 CausalMutation disease CLINVAR Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. 20574985 2010