UMLS:C0751651 - FACTA Search

Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0751651 (mitochondrial disease)
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Human Gene/Protein
NUCM	14.1
CCDC44	14.1
ATP6A	14.1
BOLA3 protein	14.1
C1orf31	14.1
METT11D1	14.1
PRO1853	14.1
EARS2 protein	14.1
Succinate-CoA ligase, ADP-forming, beta subunit	14.1
sideroflexin 4	14.1
TK2 protein	14.1
C2orf64	14.1
ATP5SL	13.1
SFRS8	13.1
C20orf7	13.1
EARS2	12.9
CHCHD1	12.5
MRPS2	12.5
mitochondrial ribosomal protein S23	12.5
GFM1	12.5

Disease
mitochondrial disease	14.1
Complex III deficiency	12.3
SCAE	12.1
Metabolic cardiomyopathy	12.1
Disorders of mitochondrial metabolism	12.1
Complex I deficiency	12.0
mental developmental delay	11.8
Idiopathic growth hormone deficiency	11.8
CMTX4	11.8
Pearson's syndrome	11.7
Alpers	11.6
Chronic progressive external ophthalmoplegia	11.6
MERRF	11.5
MELAS	11.4
ATP synthase deficiency	11.4
MELAS	11.3
mitochondrial encephalomyopathy	11.2
Cytochrome c oxidase deficiency	11.1
MEHMO	11.1
MILS	11.0

Symptom
Ophthalmoparesis	11.3
Sensory ataxia	11.0
External ophthalmoplegia	10.3
benign congenital hypotonia	9.9
ophthalmoplegia	9.2
Ataxic	8.9
Cold intolerance	8.0
Exercise intolerance	7.2
hypotonia	7.2
muscle cramps	6.6
cerebellar ataxia	6.5
impaired motor coordination	6.5
dysarthria	6.4
ataxia	6.3
myoclonus	6.2
hyperemesis	5.8
dystonia	5.1
weakness	5.1
clumsiness	5.0
ataxic gait	5.0

Enzyme
tRNA isopentenyltransferase	10.0
sulfur dioxygenase	8.8
complex I	8.4
acylglycerol kinase	8.4
GMP reductase	8.3
glycerate kinase	8.0
rhomboid protease	7.3
aspartyl-tRNA synthetase	7.2
cytochrome oxidase	7.1
tRNase Z	7.0
deoxyguanosine kinase	6.9
succinate dehydrogenase	6.8
adenylosuccinate lyase	6.5
histidyl-tRNA synthetase	6.5
phosphatidylserine decarboxylase	6.5
alanyl-tRNA synthetase	6.3
glutaryl-CoA dehydrogenase	6.3
NADH dehydrogenase	6.2
pyruvate dehydrogenase	6.2
PRPP synthetase	6.2