Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscle-spasticity finds 47 Gene-Feature associations that are associated with 47 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 268700 Muscle-spasticity spastic diplegia neurologic 5018656
ABCB7 301310 Muscle-spasticity mild spasticity neurologic 11118249
ABCD1 300100 Muscle-spasticity spastic paraplegia; spastic paraparesis; leg spasticity neurologic 7849723 10426149 10980309 11739809 11810273 15564782 16672758
AMACR 604489 Muscle-spasticity spastic paraparesis neurologic 10655068
AUH 250950 Muscle-spasticity paraplegia; cerebral palsy; spastic quadriplegia neurologic 9762598 10896289
CLN3 204200 Muscle-spasticity neurologic 10720276
COX15 220110 Muscle-spasticity spasticity of the lower limbs; lower extremities neurologic 15235026
CPOX 121300 Muscle-spasticity spastic motor impairment neurologic 15896662
CYB5R3 250800 Muscle-spasticity severe spastic and dystonic quadriparesis; spastic quadriparesis; spastic tetraparesis neurologic 7668255 10874300
CYP27A1 213700 Muscle-spasticity spinal cord paresis; progressive paraparesia; spastic paraparesis neurologic 3344851 11464194 16157755
DBT 248600 Muscle-spasticity spastic cerebral palsy neurologic 14742428
DLD 248600 Muscle-spasticity distal spasticity; progressive; tetraspasticity neurologic 3769994 8652022 12925875
ETHE1 602473 Muscle-spasticity spastic diplegia; spastic tetraparesis neurologic 1683940 12382164
FH 606812 Muscle-spasticity spasticity neurologic 2515378
FXN 229300 Muscle-spasticity late onset ataxia; lower limb spasticity; spastic ataxia; ataxo spastic phenotype neurologic 11425956 11809170 15061120 16344344
GCDH 231670 Muscle-spasticity signs of spasticity; spasticity; cerebral palsy like neurologic 7564239 9856558 10407775 16377226
GK 307030 Muscle-spasticity mild asymmetric spasticity; spasticity neurologic 15026783
HADHA 609016 Muscle-spasticity spasticity; lower extremities neurologic 9003853
HD 143100 Muscle-spasticity spasticity; pyramidal hypertonia; spastic quadriplegia neurologic 9443350 12820545 15338298
HMGCL 246450 Muscle-spasticity spastic tetraplegia; spastic quadriparesis; limb spasticity neurologic 1886403 9439591 9463337
HSD17B10 300438 Muscle-spasticity spasiticity of the limbs; spastic diplegia; lower extremity spasticity; tetraspastic neurologic 12555940 14729408 15059617
HSPD1 605280 Muscle-spasticity lower extremity spasticity; progressive; spastic gait; spastic paraplegia neurologic 10677329 11898127
MLYCD 248360 Muscle-spasticity mild spasticity neurologic 16275149
NDUFS1 252010 Muscle-spasticity spastic quadriparesis; quadriparesis neurologic 15576045
NDUFS7 252010 Muscle-spasticity hemiplegia; left sided hemiplegia neurologic 10360771
NDUFV1 252010 Muscle-spasticity spasticity; spastic neurologic 10080174
OPA3 258501 Muscle-spasticity spasticity; spastic paraparesis neurologic 7510656 9097959 11668429
OTC 311250 Muscle-spasticity severe spasticity neurologic 429491
PANK2 234200 Muscle-spasticity spasticity; spastic diplegia; spastic tetraparesis; corticospinal tract involvement neurologic 7503394 12510040 15465096 16240131 16437574
PANK2 607236 Muscle-spasticity spasticity; severe spasticity neurologic 1734303 12058097 14638969
PC 266150 Muscle-spasticity spasticity; progressive spasticity; hemiplegia; spastic tetraparesis; spastic quadriparesis neurologic 7822739 9585002 16278852
PCCA 606054 Muscle-spasticity spastic tetraparesis neurologic 10780784
PCCB 606054 Muscle-spasticity spastic tetraparesis neurologic 10488817
PDHA1 308930 Muscle-spasticity spasticity; lower extremities neurologic 1641082
PDHA1 312170 Muscle-spasticity spastic quadriplegia; lower extremities spasticity; spastic tetraparesis neurologic 9686362 10486093 16256390 16412675
PDHX 245349 Muscle-spasticity spastic paraparesis; spastic diplegia neurologic 16566017
POLG 203700 Muscle-spasticity spasticity neurologic 15689359
SCO2 604377 Muscle-spasticity spasticity; lower extremities neurologic 11673586
SDHA 252011 Muscle-spasticity tetraspasticity neurologic 16361598
SLC25A15 238970 Muscle-spasticity progressive spasticity; spastic paraparesis; diplegia; quadriplegia neurologic 10369256 11355015 11552031 11668643 11814739
SLC25A20 212138 Muscle-spasticity spasticity neurologic 10384385
SLC25A22 609304 Muscle-spasticity spasticity; spasms; tonic spasms neurologic 15592994
SOD1 105400 Muscle-spasticity marked spasticity neurologic 10809943
SPAST 182601 Muscle-spasticity spastic paraparesis; spastic paraplegia; lower limb spasticity; corticospinal tract dysfunction; atrophy; asymmetric spasticity; progressive neurologic 10610178 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15210521 15326248 15667412
SPG7 607259 Muscle-spasticity corticospinal tract dysfunction; spastic paraparesis; spastic paraplegia neurologic 9634528 9635427 11222789 14623864 14985266 16534102
STAR 201710 Muscle-spasticity spasticity; spastic cerebral palsy neurologic 9141542
SUOX 272300 Muscle-spasticity spasticity; spastic tetraplegia; quadriparesis; spastic quadriparesis neurologic 11825068 12001203 12368985 15952210
SURF1 220110 Muscle-spasticity spasticity; corticospinal tract involvement neurologic 11409433 16222681
TIMM8A 304700 Muscle-spasticity spasticity; spasticity without pareses; lower extremities neurologic 8841189 12805099

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