Mitochondria Phenome Knowledgebase

Phenotypic Feature Metabolic-brain-diseases finds 38 Gene-Feature associations that are associated with 38 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADM 201450 Metabolic-brain-diseases CSF protein elevated metabolic #2246856 #2279505 7876853 #7929823 #9158144 #9350306
ACADVL 201475 Metabolic-brain-diseases metabolic #7479827
ACAT1 203750 Metabolic-brain-diseases CSF protein level elevated metabolic 7173255
ACSL4 300387 Metabolic-brain-diseases cognition related brain lipid metabolism disturbed; brain lipid metabolism abnormal metabolic 12525535
ALDH5A1 271980 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; GABA levels abnormal; GHB levels abnormal; GABA accumulation; white matter abnormal; gray matter abnormal; cerebellar hypometabolism metabolic 12743223 15037717
ATP7B 277900 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; hypometabolism; cerebellum abnormal; striatum abnormal; cerebral cortex abnormal; thalamus abnormal metabolic 9706533
AUH 250950 Metabolic-brain-diseases metabolic #10896289
CPS1 237300 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; glutamine elevation; lactic acid accumulation within the region of infarction; glutamine elevation within the region of infarction metabolic 9309714
CPT1A 255120 Metabolic-brain-diseases metabolic #10625081 #11350183 #11441142 #12111367
CPT2 600649 Metabolic-brain-diseases CSF protein levels decreased metabolic 12410208
DLAT 245348 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; lentiform nuclei abnormal; dorsal midbrain abnormal; cortex abnormal metabolic 16049940
DLD 248600 Metabolic-brain-diseases metabolic #9934985
ECGF1 603041 Metabolic-brain-diseases CSF protein elevated metabolic 16294144
ETFA 231680 Metabolic-brain-diseases metabolic #12486872
GATM 602360 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; creatine/creatine phosphate abnormal; creatine/creatine phosphate peak absent; white matter abnormal; cerebellum abnormal; cortex abnormal; MRI normal metabolic 10762163 11555793 12324495 12468279
GCDH 231670 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; choline N acetylaspartate ratios elevated; frontal more than occipital; lactate levels elevated in affected white matter metabolic #12888985 15985591
GK 307030 Metabolic-brain-diseases metabolic #11032329 #16025401
HADH 231530 Metabolic-brain-diseases metabolic #16725361
HADHA 609015 Metabolic-brain-diseases metabolic #9739053
HADHA 609016 Metabolic-brain-diseases metabolic #8094173 #8736409 #8931405 #10518281
HADHB 609015 Metabolic-brain-diseases metabolic #12754706 #15243991 #16423905
HD 143100 Metabolic-brain-diseases PET findings; positron emission tomography; glucose metabolic rate reduced; glucose hypometabolism; basal ganglia metabolism abnormal; nucleus caudatus metabolism abnormal; CSF corticotropin releasing factor elevated; CRF elevated; MRS findings; myoinositol elevated; creatine levels abnormal; phosphocreatine levels abnormal; N acetylaspartate peak abnormal metabolic 2456053 2940474 2945510 6217782 9443350 15042332 15526960
HMGCL 246450 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; NAA/creatine abnormal; CHO/creatine abnormal; Myoinositol/creatine abnormal; lactate peak abnormal; glutamate glutamine peak abnormal; lipid peak abnormal metabolic #8440722 11461194
HSD17B10 300438 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; basal ganglia abnormal; cortex abnormal; white matter abnormal metabolic 12555940 16148061
LRRK2 607060 Metabolic-brain-diseases PET findings; positron emission tomography; nigrostriatal dysfunction; presynaptic dopamine synthesis abnormal; putamen uptake reductions; caudate uptake reductions metabolic 7898705 15732106 15732108
MCCC2 210210 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; lactic acid accumulation; lactic acid signal abnormal; cortex abnormal; occipital cortex abnormal; CSF protein levels elevated metabolic 1293382 9537490
MPV17 256810 Metabolic-brain-diseases metabolic #2300261
NDUFS8 252010 Metabolic-brain-diseases CSF protein levels decreased metabolic 9837812
OAT 258870 Metabolic-brain-diseases MRS findings; phosphocreatine depletion; brain phosphocreatine contents reduced; basal ganglia metabolism abnormal metabolic 10430418
OTC 311250 Metabolic-brain-diseases metabolic #429491 #11793468
PARK7 606324 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; caudate uptake reductions; glucose hypometabolism metabolic 15365989 15565491
PCCB 606054 Metabolic-brain-diseases metabolic #10488817
PINK1 605909 Metabolic-brain-diseases PET findings; positron emission tomography; putamen uptake reductions; bilaterally; SPECT findings; presynaptic abnormalities; postsynaptic abnormalities; dopaminergic denervation metabolic 15955954 16547921
POLG 258450 Metabolic-brain-diseases CSF protein elevated metabolic 15477547 16638794
POLG 607459 Metabolic-brain-diseases CSF protein elevated metabolic 12565911 15824347
SDHA 252011 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; succinate accumulation; white matter abnormal; cerebral white matter abnormal; cerebellar white matter abnormal metabolic 12112045
SLC25A13 605814 Metabolic-brain-diseases metabolic #11281457 #11343052 #11793471 #11999983 #14680984 #15542392
SLC25A4 609283 Metabolic-brain-diseases MRS findings; magnetic resonance spectroscopy; choline levels abnormal; white matter abnormal; choline reduction in paratrigonale white matter and in cerebellar hemispheres metabolic 12565915
SUOX 272300 Metabolic-brain-diseases CSF protein elevated metabolic 12368985
TIMM8A 304700 Metabolic-brain-diseases PET findings; positron emission tomography; basal ganglia hypometabolism; occipital lobes hypometabolism; visual cortex hypometabolism; rostral parietal lobes hypometabolism metabolic 12805099
TIMM8A 311150 Metabolic-brain-diseases PET findings; positron emission tomography; abnormally low uptake; parietal lobes abnormal; temporal lobes abnormal metabolic 11803487

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