Mitochondria Phenome Knowledgebase

Phenotypic Feature Carnitine-levels-abnormal finds 30 Gene-Feature associations that are associated with 30 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 4022672
ACADM 201450 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; urinary excretion of carnitine metabolic 2279505 2380628 7876853 11486912 15858970
ACADS 201470 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 2808706 3335634 12061367 15534767
ACADSB 610006 Carnitine-levels-abnormal decreased; mild metabolic 11013134 12837870
ACADVL 201475 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; tetra decanoyl carnitine levels abnormal metabolic 9546340 11524729
ACAT1 203750 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine metabolic 8930414 9700610
ALDH5A1 271980 Carnitine-levels-abnormal metabolic 9093300
AUH 250950 Carnitine-levels-abnormal free carnitine abnormal; decreased metabolic 9762598 12655555
BCS1L 603358 Carnitine-levels-abnormal De Toni Fanconi Debre syndrome; serum free carnitine concentration decreased metabolic 9482441
CPT1A 255120 Carnitine-levels-abnormal elevated total carnitine; elevated free carnitine metabolic 11286380 11286383 11350182 11441142 12111367 15669684 16146704
CPT2 255110 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 12752755
CPT2 600649 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 1999498 9600456 12410208
ETFB 231680 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 12706375
ETFDH 231680 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secondary carnitine deficiency metabolic 10356148 15669683
ETHE1 602473 Carnitine-levels-abnormal metabolic 12382164
GCDH 231670 Carnitine-levels-abnormal secondary carnitine depletion; decreased total carnitine; decreased free carnitine; elevated esterified carnitine; elevated glutarylcarnitine; MRS findings; magnetic resonance spectroscopy; muscle carnitine levels abnormal metabolic 10699052 11174631 12473778 12888985 15985591 16377226
HADHA 609016 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 8736409 8931405 9003853 11855930
HADHB 609015 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 9305349
HMGCL 246450 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine metabolic 11461194
IVD 243500 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secondary carnitine deficiency metabolic 12911192 16602101
MCCC1 210200 Carnitine-levels-abnormal hypocarnitinemia; decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secundary carnitine deficiency metabolic 2738779 10485305 11170888 11181649
MCCC2 210210 Carnitine-levels-abnormal hypocarnitinemia; decreased total carnitine; decreased free carnitine; elevated esterified carnitine; secundary carnitine deficiency metabolic 1293382 8831079 9544913 11170888 11181649
MLYCD 248360 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 7609455 12955715
MUT 251000 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 11350191 12118529
PCCA 606054 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 9461363 15614906
PCCB 606054 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine metabolic 9461363 15614906
PDHA1 308930 Carnitine-levels-abnormal muscle carnitine content decreased metabolic 8982956
POLG 157640 Carnitine-levels-abnormal low metabolic 15534189
SDHA 252011 Carnitine-levels-abnormal increased; total carnitine; free canitine metabolic 12794685
SLC25A20 212138 Carnitine-levels-abnormal decreased total carnitine; decreased free carnitine; elevated esterified carnitine; elevated long chain acylcarnitine; hypocarnitinemia metabolic 9686371 10408757 10876004 12801121 15057979 15365988
TAZ 302060 Carnitine-levels-abnormal decreased total carnitine; carnitine elevated metabolic 8630491 15124852

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