Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscle-rigidity finds 15 Gene-Feature associations that are associated with 15 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATP7B 277900 Muscle-rigidity shoulder; elbow; wrist joints; lower limbs; axial muscles neurologic 11086396 14639035 15636319 15909172
BCKDHA 248600 Muscle-rigidity jaw rigidity; hypopharnyx rigidity neurologic 12042535
CYP27A1 213700 Muscle-rigidity symmetric cogwheel rigidity; cogwheel rigidity; leadpipe rigidity neurologic 16157755
DLST 203740 Muscle-rigidity muscular rigidity neurologic 7075624
GCDH 231670 Muscle-rigidity generalized rigidity; diffuse neurologic 10407775 11825066 12888985
HD 143100 Muscle-rigidity generalized rigidity; progressive rigidity; extrapyramidal rigidity; leadpipe rigidity; akinetic rigid syndrome; cogwheel rigidity neurologic 2945510 7845404 9443350 9771791 10644798 12075490 15254954 15338298 15526960
HTRA2 168600 Muscle-rigidity muscular rigidity; akinetic rigidic neurologic 15961413
LRRK2 607060 Muscle-rigidity neurologic 7898705 11891824 15541308 15541309 15680456 15680457 15726496 15732106 15732108 15852371
OGDH 203740 Muscle-rigidity neurologic 7075624
OPA3 165300 Muscle-rigidity extrapyramidal rigidity; upper limbs neurologic 15342707
PANK2 234200 Muscle-rigidity progressive rigidity; stiffness; axial rigidity neurologic 7503394 12510040 12697433 12811783 14639680 15465096 15747360 15812126 15911822 15944911 16240131
PARK7 105500 Muscle-rigidity neurologic 16240358
PARK7 606324 Muscle-rigidity one sided rigidity; bilateral rigidity; stiffness; lower extremities; upper extremities; cogwheel sign neurologic 11462174 11835383 12446870 12953260 15365989 15565491
PINK1 605909 Muscle-rigidity upper extremities; lower extremities; cogwheel rigidity; axial rigidity; stiffness neurologic 11254447 15349870 15349871 15505170 15505171 15596610 15955953 15970950 16009891 16482571 16547921
POLG 157640 Muscle-rigidity neurologic 15351195 15534189
POLG 258450 Muscle-rigidity neurologic 15351195 16638794
SLC25A13 603471 Muscle-rigidity severe rigidity of all limbs neurologic 15805705

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