Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscle-weakness finds 58 Gene-Feature associations that are associated with 54 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Muscle-weakness leg weakness neurologic 10426149 10980309 11739809 11810273 16672758
ACADL 201460 Muscle-weakness persistent neurologic 1945557 2000272
ACADM 201450 Muscle-weakness progressive weakness neurologic 7876853 11263545 11524729
ACADS 201470 Muscle-weakness proximal; progressive; severe weakness neurologic 2808706 3335634 7776094 15534767
ACADSB 610006 Muscle-weakness progressive muscle weakness neurologic 12837870
ACADVL 201475 Muscle-weakness neurologic 7479827 11158518 11524729 16443431
COX10 220110 Muscle-weakness severe neurologic 10767350
COX15 220110 Muscle-weakness neurologic 15863660
CPOX 121300 Muscle-weakness spastic weakness; upper limbs; lower limbs; muscular asthenia neurologic 11074238 11202054 15896662
CPT1A 255120 Muscle-weakness neurologic 9691089
CPT2 255110 Muscle-weakness after exercise; floppy legs neurologic 8358442 10090476 11999976 12410208 12752755 15642848
CYP11B2 124080 Muscle-weakness neurologic 11238478 12788848
CYP27B1 264700 Muscle-weakness neurologic 9415400 9486994
DGUOK 251880 Muscle-weakness neurologic 12210798
DLD 248600 Muscle-weakness neurologic 9934985 14765544
DMPK 160900 Muscle-weakness facial weakness; hands; neck; arms; limbs; bilateral weakness; proximal; distal; late stage diffuse; muscular strength decreased; diaphragmatic muscle weakness; intercostal muscle weakness neurologic 1301924 7811171 7829609 8122879 8421476 9270517 9402536 9521960 9576545 9728948 9856556 9863600 10323316 10391974 10655320 10935840 11424841 11874404 11874420 12240714 12601109 12639730 12832322 14726854 15326270 15596617 15770660
ECGF1 603041 Muscle-weakness symmetric; neck; deltoids; flexors; biceps brachii; iliopsoas neurologic 9683610 12177387 14757860 16178026 16198108 16498612 16530527
ETFA 231680 Muscle-weakness neurologic 12815589
ETFB 231680 Muscle-weakness neurologic 12815589
ETFDH 231680 Muscle-weakness respiratory muscles; infection triggered neurologic 10356148 12815589 15662686 15669683
FXN 229300 Muscle-weakness pyramidal weakness; lower limb weakness; generalized; progressive weakness neurologic 4673109 10767311 11425956 12480086 12745158 12878293 15376485 16344344
GDAP1 214400 Muscle-weakness severe; symmetric; distal; quadriparesis; paresis neurologic 11743579 11743580 12499475 12707075 15377708 16343542
GDAP1 607706 Muscle-weakness peripheral neuropathy; paralysis; facial diplegia; facial weakness; hand weakness neurologic 11743580 12601710 12821518 15019704 15805163
GDAP1 608340 Muscle-weakness limb weakness; peripheral neuropathy neurologic 12566285
HADHA 609015 Muscle-weakness episodes; facial weakness; wrist extension weakness; finger extension weakness neurologic 2019931 7748366 9739053 15902556
HADHB 609015 Muscle-weakness lower extremities; diaphragm weakness; skeletal muscle weakness neurologic 12754706 15617873 15902556
HD 143100 Muscle-weakness progressive weakness; upper extremities; lower extremities neurologic 15526960
HSPD1 605280 Muscle-weakness neurologic 10677329 11898127
KIF1B 118210 Muscle-weakness distal extremities; anterior tibial; posterior tibial; peroneal neurologic 9409358 11389829
MCCC2 210210 Muscle-weakness diaphragmatic weakness; diaphragm weakness; muscular weakness neurologic 9537490
MFN2 601152 Muscle-weakness distal weakness; marked neurologic 16437557
MFN2 609260 Muscle-weakness distal extremities; distal weakness neurologic 8406488 9409358 10732809 11148244 12601114 15064763 15136675 15549395 16043786 16087932 16714318
MPV17 256810 Muscle-weakness progressive neurologic 185990 10518083
NDUFA12L 252010 Muscle-weakness myopathic face neurologic 16200211
NDUFS3 252010 Muscle-weakness tetraparetic syndrome neurologic 14729820
OAT 258870 Muscle-weakness mild weakness; less than 10 percent of patients neurologic 8982944
PANK2 234200 Muscle-weakness mild weakness; facial weakness; bilaterally; tongue weakness; bulbar controlled musculature involvement neurologic 12811783
PARK7 105500 Muscle-weakness progressive; upper extremities; lower extremities neurologic 16240358
PCCB 606054 Muscle-weakness neurologic 10780784 12409268
PDHA1 308930 Muscle-weakness episodes; recurrent neurologic 9187674
PDHA1 312170 Muscle-weakness severe weakness; episodes; recurrent; Guillain Barre syndrome like; lower extremities weakness; facial weakness neurologic 1338114 9187674 9686362 12163191 12379317 15558317 16552546
PEO1 271245 Muscle-weakness facial muscles; lower extremities weakness neurologic 8133312
PEO1 607459 Muscle-weakness proximal leg weakness; limb weakness neurologic 15668446
PEO1 609286 Muscle-weakness proximal weakness; shoulder; quadriceps muscles; eye closure weakness neurologic 1634620 10522883 12163192 15258213
PEO1 609286 Respiratory-insufficiency sudden respiratory insufficiency; related to muscle weakness; chest wall weakness; respiratory failure respiratory 1634620 12163192 15258213
POLG 157640 Muscle-weakness proximal; pharynx; oropharyngeal muscle weakness; generalized neurologic 11431686 12975295 15351195 15534189
POLG 203700 Muscle-weakness generalized neurologic 15689359
POLG 203700 Respiratory-insufficiency ventilatory insufficiency; due to generalized muscle weakness respiratory 15689359
POLG 258450 Muscle-weakness proximal; pharynx; progressive weakness; facial muscle weakness neurologic 12825077 15351195 15477547 16401742 16715201
POLG 607459 Muscle-weakness facial weakness; generalized weakness neurologic 12565911
POLG2 157640 Muscle-weakness mild weakness; facial muscle weakness; limb muscle weakness neurologic 16685652
PPOX 176200 Muscle-weakness paralysis; lower extremities; upper extremities; foot drop; wrist drop neurologic 9738863 11286631 12357337 12859407 15643299
PUS1 600462 Muscle-weakness decreased strength neurologic 7726239 14981724
SCO2 604377 Muscle-weakness generalized weakness neurologic 11673586 12020273 15499950
SLC25A15 238970 Muscle-weakness lower extremities; distal legs neurologic 10805333 16376511
SLC25A16 275000 Muscle-weakness neurologic 2575220
SLC25A20 212138 Muscle-weakness generalized weakness neurologic 1598097 9686371 10408757 10876004
SLC25A4 609283 Muscle-weakness proximal; generalized; facial weakness; facial hypokinesia neurologic 10926541 12112115 12565915 15792871
SOD1 105400 Gait-disorders related to muscle weakness; difficulty walking neurologic 9455983 10430435 10732812 10809943 14517684 14759637
SOD1 105400 Muscle-weakness upper extremities; lower extremities; hands neurologic 7624031 7647793 8907321 9444365 9455977 9455983 10430435 10732812 10809943 12480087 14517684 14759637 15235802 15851752 16423367
SPAST 182601 Muscle-weakness lower extremities; tibialis anterior weakness; gastrocnemius weakness; hamstring muscle weakness neurologic 8931574 10699187 11015453 11134375 11266693 11723204 11843700 12163196 12202986 12552568 15197701 15210521 15667412
SPG7 607259 Muscle-weakness lower limb weakness; progressive; lower extremities neurologic 9634528 9635427 11222789 14985266 16534102
SURF1 220110 Muscle-weakness neurologic 14557577 15214016 16222681 16225813
TAZ 300183 Muscle-weakness neurologic 9332651
TAZ 302060 Muscle-weakness fatigue; generalized neurologic 8630491 8739954 10484795 15098233
TAZ 302060 Muscular-diseases skeletal myopathy; facial muscle weakness musculoskeletal 8630491 8739954 9382096 10484795 14654353 15098233 16235007
TK2 609560 Muscle-weakness progressive; rapidly progressive neurologic 2538042 11687801 12655576 12682338 15639197 15907288 16504786
TP53 202300 Muscle-weakness cushing syndrome feature neurologic 11481490 11600572

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