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 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 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 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 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 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 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 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 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 Phenotype and genotype variation in primary carnitine deficiency. 11715001 2002
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 Pharmacological rescue of carnitine transport in primary carnitine deficiency. 16652335 2006
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 CausalMutation disease CLINVAR Pericardial effusion in primary systemic carnitine deficiency. 16830263 2006
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 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 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 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 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 Importance of molecular diagnosis in the accurate diagnosis of systemic carnitine deficiency. 25846890 2015
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 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