Mitochondria Phenome Knowledgebase

Phenotypic Feature Muscle-hypertonia finds 23 Gene-Feature associations that are associated with 23 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
AASS 238700 Muscle-hypertonia neurologic 6015890
ACADS 201470 Muscle-hypertonia hypertonic neurologic 3571488 7776094
ATP7B 277900 Muscle-hypertonia increased tone; limbs neurologic 9160075 15557537
ATPAF2 604273 Muscle-hypertonia neurologic 14757859
AUH 250950 Muscle-hypertonia neurologic 9762598
BCKDHB 248600 Muscle-hypertonia neurologic 2022752
COX10 220110 Muscle-hypertonia limb hypertonia neurologic 2834526
CPS1 237300 Muscle-hypertonia hypertonic; all extremities neurologic 11301219
CYB5R3 250800 Muscle-hypertonia generalized; hypertonia; lower limb hypertonia; stiff legs neurologic 8874222 9886302 10874300
DBT 248600 Muscle-hypertonia neurologic 9621512
ETHE1 602473 Muscle-hypertonia neurologic 9475600
FH 606812 Muscle-hypertonia limb hypertonia neurologic 8200987
GFM1 609060 Muscle-hypertonia upper extremities neurologic 15537906
HD 143100 Muscle-hypertonia later phase; pyramidal hypertonia; increased tone in lower limbs neurologic 7845404 9443350
HSD17B10 300438 Muscle-hypertonia rigid muscle tone; extremities neurologic 12555940
MFN2 609260 Muscle-hypertonia increased tone neurologic 12601114 16087932
MTRR 236270 Muscle-hypertonia neurologic 12555939
NAGS 237310 Muscle-hypertonia distal hypertonia neurologic 7623444 12447942 12594532
PCCB 606054 Muscle-hypertonia hypertonic neurologic 10488817
PDHX 245349 Muscle-hypertonia generalized neurologic 14518830 15303005
SPAST 182601 Muscle-hypertonia muscle tone increased; lower extremities neurologic 11134375 11723204 12202986 15197701 15326248
SPG7 607259 Muscle-hypertonia upper extremities; muscle tone increased; lower extremities neurologic 11222789 14985266
SUOX 272300 Muscle-hypertonia generalized; during progression; hypertonicity neurologic 9600976 10519592 11825068 12368985 16140720

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