Mitochondria Phenome Knowledgebase

Phenotypic Feature Athetosis finds 26 Gene-Feature associations that are associated with 19 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALDH5A1 271980 Athetosis choreoathetosis neurologic 7726383
ALDH5A1 271980 Choreatic-disorders choreoathetosis; choreiform movements; involuntary movements neurologic 7726383 9093300
BCKDHA 248600 Athetosis choreoathetosis; athetoid movements neurologic 12042535
BCKDHA 248600 Choreatic-disorders choreoathetosis neurologic 12042535
CYB5R3 250800 Athetosis bilateral athetosis; athetoid cerebral palsy; cerebral palsy neurologic 7718898 9266404 10874300
DLAT 245348 Athetosis choreoathetoid movements neurologic 16049940
DLD 248600 Athetosis choreoathetoid movements neurologic 15712224
DLST 203740 Athetosis athetoid movements; choreoathetoid movements neurologic 7075624 8295396
FH 606812 Athetosis athetoid movements; arms; hands neurologic 16151915
GCDH 231670 Athetosis athetoid posturing; choreoathetosis neurologic 1137568 7795610 9850748 9856558 10407775 11825066 12888985 16377226
GCDH 231670 Choreatic-disorders choreoathetosis; choreatic movements neurologic 7795610 9850748 9856558 10407775 11825066 12888985 16377226
GLDC 605899 Athetosis involuntary choreoathetoid hand movements neurologic 15824356 15851735
HD 143100 Athetosis athetotic movements; juvenile cases; athetoid movements neurologic 9443350 10749290 15042332
HSD17B10 300438 Athetosis choreoathetosis neurologic 11102558
HSD17B10 300438 Choreatic-disorders choreoathetosis neurologic 11102558
OGDH 203740 Athetosis athetoid movements neurologic 7075624
PANK2 234200 Athetosis involuntary movements; choreoathetosis; athetoid movements neurologic 7503394 12510040 15747360 16240131
PANK2 234200 Choreatic-disorders involuntary movements; choreoathetosis; choreo athetotic movements neurologic 7503394 12510040 16240131 16437574
PC 266150 Athetosis athetosis and clonus neurologic 9585612
PCCB 606054 Athetosis choreoathetosis neurologic 10488817
PCCB 606054 Choreatic-disorders choreoathetosis neurologic 10488817
PEO1 271245 Athetosis athetoid movements; hands; face; athetoid jerky movements neurologic 8133312 8159181 8552218 9027505 9879682 16135556
POLG 607459 Athetosis pseudoathetoid movements; hands neurologic 12565911
SUOX 272300 Athetosis choreoathetosis neurologic 9600976
SUOX 272300 Choreatic-disorders choreoathetosis neurologic 9600976
SURF1 220110 Choreatic-disorders choreoathetosis; jerking; extremities neurologic 14557577 16225813

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