Mitochondria Phenome Knowledgebase

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

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ACADL 201460 Muscular-diseases musculoskeletal #2000272
ACADM 201450 Muscular-diseases type 2 fiber predominance; lipid droplets between myofibrils; glycogen accumulation musculoskeletal 7876853 #11524729
ACADS 201470 Muscular-diseases myopathy; lipid storage; adult form; multicore myopathy; axial myopathy; intrafiber lipid deposits; variation in muscle fibre size; hypertrophic fibres; atrophic fibers musculoskeletal 3335634 9932958 15534767
ACADVL 201475 Muscular-diseases myopathy; muscle fat droplets; necrotic fibers musculoskeletal 7479827 9546340 9877038 #10910451 11158518 #16443431
AGXT 259900 Muscular-diseases myopathy; muscle biopsy findings; calcium oxalate crystals; inflammatory infiltrates musculoskeletal 9831280
BCKDHA 248600 Muscular-diseases Biopsy finding; non specific abnormalities; myofibre atrophy; fibres with increased lipid; muscular atrophy musculoskeletal 16601891
BCS1L 124000 Muscular-diseases musculoskeletal #11528392
COX10 220110 Muscular-diseases Histology findings; fiber size variations; type 1 fibre vacuolation; type 2 fiber atrophy musculoskeletal 2834526
CPT1A 255120 Muscular-diseases musculoskeletal #11286380 #11350183 #16146704
CPT2 255110 Muscular-diseases myopathy; lipid storage; progressive; necrotic fibers during attacks; atrophic fibers; increased variability in fiber size musculoskeletal #2748260 #8201482 #8358442 #8786066 #8815169 #9600456 #10090476 10398215 #10862092 11999976 12410208 #12752755 15642848 #15776096
CPT2 600649 Muscular-diseases myofibrillar disarray; skeletal muscle; myopathic process musculoskeletal 11389301
CYP27A1 213700 Muscular-diseases myopathic facial expression; EMG findings; myopathic; fiber size variability musculoskeletal 1763899 #5676919 8514861 #9186905 10775536 #11903362 14572142 #15147532
DLD 248600 Muscular-diseases myopathy; variable musculoskeletal #9934985 12925875
DMPK 160900 Muscular-diseases characteristic facies; myopathic face; tented mouth; carp mouth; muscular dystrophy; Biopsy findings; variation in fiber size; increased central nuclei; fibers with pyknotic nuclear clumps; necrotic fibrosis; nuclear clumps; fiber type distribution abnormal; muscle cell alteration musculoskeletal 8421476 8742989 9856556 10391974 12601109 14521021 14726854
ECGF1 603041 Muscular-diseases encephalomyopathy; myopathy; lipid droplets musculoskeletal 9683610 14720311 16120316 16198108 16530527
ETFA 231680 Muscular-diseases musculoskeletal #16510302
ETFDH 231680 Muscular-diseases proximal myopathy; lipid storage myopathy; intercostal muscles impaired musculoskeletal 12815589 15669683
GCDH 231670 Muscular-diseases myopathy musculoskeletal 12888985
HADH 231530 Muscular-diseases lipid accumulation; myopathy musculoskeletal 10931422 16176262
HADHA 609015 Muscular-diseases limb girdle myopathy; lipid accumulative myopathy; denervation; re innervation musculoskeletal 2019931 7748366 #8865274 9739053 10352164 11855930 14630990 15902556
HADHB 609015 Muscular-diseases skeletal myopathy; myopathy; cytoplasmic fatty infiltrations musculoskeletal 9259266 #9305349 12548384 12754706 15617873 15902556 16423905
HD 143100 Muscular-diseases myopathic changes; moth eaten fibers; angulated fibers; fibers abnormal musculoskeletal 9506560
MUT 251000 Muscular-diseases mitochondrial myopathy musculoskeletal 16186538
NDUFS2 252010 Muscular-diseases encephalomyopathy; myopathy musculoskeletal 11220739
OAT 258870 Muscular-diseases CT findings; MRI findings; Biopsy findings; tubular aggregates; muscle fat amount increased; fatty degeneration; myopathic changes; moth eaten fibers; muscle disease; progressive; myopathic patterns; MRS spectra abnormal; deficiency of high energy creatine phosphate; low creatine concentrations in muscle biopsies musculoskeletal 4088625 6786998 8982944 10354199 12221166
OPA1 125250 Muscular-diseases nonspecific myopathy musculoskeletal 6493699 15531309
PANK2 234200 Muscular-diseases focal necrosis and fiber splitting; fiber size variations musculoskeletal 7503394
PDHX 245349 Muscular-diseases encephalomyopathy; myopathy; Histology findings; fiber size variations; atrophic fibers; scattered atrophic fibers musculoskeletal 14518830
PEO1 607459 Muscular-diseases myopathic pattern musculoskeletal 15668446
PEO1 609286 Muscular-diseases reduced muscle bulk; mitochondrial myopathy; COX deficient fibers musculoskeletal 1634620 10522883 12163192 12921794 15258213
POLG 157640 Muscular-diseases mitochondrial myopathy musculoskeletal 2067633
POLG 258450 Muscular-diseases type I fiber prevalence; type 2 fiber grouping; lipid droplets; glycogen increased; angular hypotrophic fibers; myopathy musculoskeletal 16621917 16715201
POLG 607459 Muscular-diseases variation in fiber size; necrotic muscle fibers; myopathy; early onset myopathy musculoskeletal 12565911
PUS1 600462 Muscular-diseases myopathy; myopathic facies musculoskeletal 7726239 14981724 15971356
SCO2 604377 Muscular-diseases muscular dystrophy; myopathy musculoskeletal 10545952 11673586 15210538
SDHA 252011 Muscular-diseases myopathy; progressive musculoskeletal 10976639 12112045
SLC25A20 212138 Muscular-diseases lipid storage myopathy; necrotic muscle fibers; lipid accumulation musculoskeletal 9686371 11350184 12890396 #15159657
SLC25A4 609283 Muscular-diseases EMG; myopathic; progressive skeletal myopathy musculoskeletal 10364542 12565915
SUCLA2 609560 Muscular-diseases encephalomyopathy; myopathy musculoskeletal 15877282
TAZ 302060 Muscular-diseases skeletal myopathy; facial muscle weakness musculoskeletal 8630491 8739954 9382096 10484795 14654353 15098233 16235007
TIMM8A 304700 Muscular-diseases abnormal amounts of fatty vacuoles; myopathy musculoskeletal 10878669
TK2 609560 Muscular-diseases severe; fibre degeneration; fibre size variability; lipid storage in fibers; dystrophic alterations; myopathy musculoskeletal 2538042 11687801 12269728 12682338 16504786

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