Gene: MIR3936HG ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy. 2235122 1990
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Primary systemic carnitine deficiency is caused by mutations in a gene encoding sodium ion-dependent carnitine transporter. 9916797 1999
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 12210323 2002
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Novel OCTN2 mutations: no genotype-phenotype correlations: early carnitine therapy prevents cardiomyopathy. 12210323 2002
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene. 15714519 2005
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Pericardial effusion in primary systemic carnitine deficiency. 16830263 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). 16931768 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Pericardial effusion in primary systemic carnitine deficiency. 16830263 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation disease CLINVAR Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586 2007
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 GeneticVariation disease CLINVAR Expanded newborn screening identifies maternal primary carnitine deficiency. 17126586 2007
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
Entrez Id: 553103
Gene Symbol: MIR3936HG
MIR3936HG 		0.100 CausalMutation 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 GeneticVariation 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 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 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