rs749895856, CPT2

N. diseases: 8
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations. 15622536 2005
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). 15489334 2004
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Carnitine palmitoyltransferase II deficiency: a clinical, biochemical, and molecular review. 14615409 2003
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency. 14605500 2003
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Antenatal presentation of carnitine palmitoyltransferase II deficiency. 11477613 2001
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Novel mutations associated with carnitine palmitoyltransferase II deficiency. 10090476 1999
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Two CPT2 mutations in three Japanese patients with carnitine palmitoyltransferase II deficiency: functional analysis and association with polymorphic haplotypes and two clinical phenotypes. 9600456 1998
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Identification of four novel mutations in patients with carnitine palmitoyltransferase II (CPT II) deficiency. 9758712 1998
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Molecular analysis of carnitine palmitoyltransferase II deficiency with hepatocardiomuscular expression. 8651281 1996
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Carnitine palmitoyltransferase II deficiency: structure of the gene and characterization of two novel disease-causing mutations. 7711730 1995
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients. 8358442 1993
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
CUI: C1833508
Disease: CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, LATE-ONSET
0.700 GeneticVariation UNIPROT Molecular characterization of inherited carnitine palmitoyltransferase II deficiency. 1528846 1992
Hyperextensible hand joints
CUI: C1856877
Disease: Hyperextensible hand joints
0.700 GeneticVariation CLINVAR
Knee joint valgus deformity
CUI: C0576093
Disease: Knee joint valgus deformity
0.700 GeneticVariation CLINVAR
Hyperextensibility at elbow
CUI: C4023808
Disease: Hyperextensibility at elbow
0.700 GeneticVariation CLINVAR
Myopathic facies
CUI: C0332615
Disease: Myopathic facies
0.700 GeneticVariation CLINVAR
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
0.700 GeneticVariation CLINVAR
Hyperextensibility of the finger joints
CUI: C1844577
Disease: Hyperextensibility of the finger joints
0.700 GeneticVariation CLINVAR
Flatfoot
CUI: C0016202
Disease: Flatfoot
0.700 GeneticVariation CLINVAR