Mitochondria Phenome Knowledgebase

Phenotypic Feature Fatty-acids-abnormal finds 21 Gene-Feature associations that are associated with 21 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Fatty-acids-abnormal very long chain fatty acids elevated metabolic 7849723 9702690 10369742 10426149 10980309 11438993 11739809 11810273 12210797 14586615 15564782 16672758
ACADL 201460 Fatty-acids-abnormal metabolic 4022672
ACADM 201450 Fatty-acids-abnormal octanoic acid elevated; plasma metabolic 11486912
ACADS 201470 Fatty-acids-abnormal serum; free fatty acids elevated metabolic 12061367
AMACR 604489 Fatty-acids-abnormal elevated pristanic acid; elevated dihydroxycholestanoic acid; elevated trihydroxycholestanoic acid metabolic 10655068 11861706 15249642
CPT1A 255120 Fatty-acids-abnormal myristic acids abnormal; palmitic acids abnormal; triglycerids abnormal; free fatty acids abnormal; unsaturated fatty acids elevated; plasma metabolic 9691089 11286380 11441142 12189492 15669684
CPT2 600649 Fatty-acids-abnormal palmitic acids abnormal metabolic 1528846 1999498 11477613
ETFA 231680 Fatty-acids-abnormal myristate oxidation abnormal; palmitate oxidation abnormal; fibroblasts metabolic 12815589
ETFB 231680 Fatty-acids-abnormal serum; free fatty acids abnormal; myristate oxidation abnormal; palmitate oxidation abnormal; fibroblasts metabolic 12706375 12815589
ETFDH 231680 Fatty-acids-abnormal myristate oxidation abnormal; palmitate oxidation abnormal; fibroblasts; high free fatty acids metabolic 10356148 12815589
GK 307030 Fatty-acids-abnormal free fatty acids elevated; FFA elevated; increased fasting plasma FFA metabolic 10736265
GLUD1 606762 Fatty-acids-abnormal low free fatty acids; hypoglycemia related; suppressed concentrations of plasma free fatty acids metabolic 9108870 10871207 11297618 15517495
HADH 231530 Fatty-acids-abnormal plasma; non esterified fatty acids elevated metabolic 14641012
HADHA 609015 Fatty-acids-abnormal intrahepatic accumulation; long chain fatty acids elevated metabolic 8865274
HADHA 609016 Fatty-acids-abnormal fatty acid oxidation defect; long chain fatty acid oxidation metabolites abnormal; plasma fatty acids elevated metabolic 10518281 12162610
HMGCS2 605911 Fatty-acids-abnormal serum; beta hydroxybutyrate decreased; free fatty acids increased during fasting; elevated free fatty acids metabolic 9337379 11479731 12072887 12647205
HSD17B10 300438 Fatty-acids-abnormal branched chain fatty acids abnormal; elevated hydroxyvanillic acid; elevated 5 hydroxyindolacetic acid; isoleucine metabolism abnormal metabolic 11102558
MLYCD 248360 Fatty-acids-abnormal myristic acids abnormal; palmitic acids abnormal; fatty acids oxidation abnormal; triglyceride levels elevated metabolic 6145813 11461195
OXCT1 245050 Fatty-acids-abnormal free fatty acids elevated metabolic 8803771
PCCA 606054 Fatty-acids-abnormal odd chain fatty acids elevated; plasma metabolic 15464417
PCCB 606054 Fatty-acids-abnormal odd chain fatty acids elevated; plasma metabolic 15464417
SLC25A20 212138 Fatty-acids-abnormal free fatty acids elevated metabolic 10408757 10876004 15365988

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