Mitochondria Phenome Knowledgebase

Phenotypic Feature Paralysis-Paresis finds 39 Gene-Feature associations that are associated with 39 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 268700 Paralysis-Paresis spastic diplegia neurologic 5018656
ABCD1 300100 Paralysis-Paresis spastic paraplegia; spastic paraparesis; progressive paraparesis; spastic diplegia; tetraparesis; tetraplegic neurologic 7849723 10369742 10426149 11739809 11810273 15564782 16672758
ACAT1 203750 Paralysis-Paresis diplegia neurologic 7173255
AMACR 604489 Paralysis-Paresis spastic paraparesis neurologic 10655068
AUH 250950 Paralysis-Paresis paraplegia; cerebral palsy; spastic quadriplegia neurologic 9762598 10896289
CPOX 121300 Paralysis-Paresis quadriplegia neurologic 11202054
CPS1 237300 Paralysis-Paresis hypotonic tetraparesis neurologic 15617192
CYB5R3 250800 Paralysis-Paresis severe spastic and dystonic quadriparesis; spastic quadriparesis; spastic tetraparesis neurologic 7668255 10874300
CYP27A1 213700 Paralysis-Paresis spinal cord paresis; progressive paraparesia; spastic paraparesis; paraparesis neurologic 2019602 10430841 11464194
DLD 248600 Paralysis-Paresis tetraspasticity; tetraspastic paresis; quadriplegia neurologic 3769994 12925875
ECGF1 603041 Paralysis-Paresis proximal paresis; distal paresis; arms and legs paresis; tetraparesis; facial diparesis neurologic 16198108 16530527
ETHE1 602473 Paralysis-Paresis spastic diplegia; spastic tetraparesis neurologic 1683940 12382164
FH 606812 Paralysis-Paresis dystonic tetraplegia; quadriplegia neurologic 15221078
FXN 229300 Paralysis-Paresis spastic paraparesis; severe quadruparesis neurologic 11425956 15061120 16344344
GCDH 231670 Paralysis-Paresis tetraplegia neurologic 7564239
HD 143100 Paralysis-Paresis spastic quadriplegia; diplegia neurologic 15338298
HMGCL 246450 Paralysis-Paresis spastic tetraplegia; spastic quadriparesis neurologic 1886403 9439591
HSD17B10 300438 Paralysis-Paresis spastic diplegia neurologic 15059617
HSPD1 605280 Paralysis-Paresis spastic paraplegia neurologic 10677329 11898127
MFN2 601152 Paralysis-Paresis paraspinal paresis neurologic 16437557
MFN2 609260 Paralysis-Paresis foot drop; proximal paresis; wheelchair dependency neurologic 16714318
NDUFS1 252010 Paralysis-Paresis quadriparesis neurologic 15576045
NDUFS3 252010 Paralysis-Paresis tetraparetic syndrome neurologic 14729820
OPA3 258501 Paralysis-Paresis spastic paraparesis; paraplegia neurologic 7510656 9097959 11668429
PANK2 234200 Paralysis-Paresis spastic diplegia; spastic tetraparesis neurologic 16437574
PC 266150 Paralysis-Paresis spastic tetraparesis; spastic quadriparesis neurologic 7822739 16278852
PCCA 606054 Paralysis-Paresis spastic tetraparesis neurologic 10780784
PCCB 606054 Paralysis-Paresis spastic tetraparesis; quadriplegia neurologic 10488817
PDHA1 312170 Paralysis-Paresis spastic quadriplegia; spastic tetraparesis; quadriparesis neurologic 9187674 9686362 10486093 16256390
PDHX 245349 Paralysis-Paresis spastic paraparesis; spastic diplegia; quadriplegic neurologic 9399911 9501264 16566017
PEO1 271245 Paralysis-Paresis tetraparesis; paraparetic; paraparesis neurologic 8133312
PEO1 607459 Paralysis-Paresis paraparesis neurologic 15668446
POLG 258450 Paralysis-Paresis tetraparesis neurologic 16401742
POLG 607459 Paralysis-Paresis foot dorsiflexors paresis; limb paresis neurologic 12565911
PPOX 176200 Paralysis-Paresis quadriplegia; paresis neurologic 8673113 9738863 12357337 15643299
RMRP 607095 Paralysis-Paresis quadriplegia spontaneously occurred; quadriplegia neurologic 11370632
SLC25A15 238970 Paralysis-Paresis spastic paraparesis; diplegia; quadriplegia neurologic 11355015 11552031 11668643 11814739
SOD1 105400 Paralysis-Paresis amyotrophic diplegia; diplegia neurologic 15851752
SPAST 182601 Paralysis-Paresis spastic paraparesis; spastic paraplegia; progressive neurologic 10610178 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15326248 15667412
SPG7 607259 Paralysis-Paresis corticospinal tract dysfunction; spastic paraparesis; spastic paraplegia neurologic 9634528 9635427 11222789 14623864 14985266 16534102
STAR 201710 Paralysis-Paresis spastic cerebral palsy neurologic 9141542
SUOX 272300 Paralysis-Paresis spastic quadriparesis neurologic 11825068 12368985

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