Mitochondria Phenome Knowledgebase

Phenotypic Feature Choreatic-disorders finds 18 Gene-Feature associations that are associated with 18 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ALDH5A1 271980 Choreatic-disorders choreoathetosis; choreiform movements; involuntary movements neurologic 7726383 9093300
ATP7B 277900 Choreatic-disorders hemichorea; rheumatic chorea; chorea neurologic 9706533 15146013 15909172
BCKDHA 248600 Choreatic-disorders choreoathetosis neurologic 12042535
DLAT 245348 Choreatic-disorders choreoathetoid movements neurologic 16049940
DLD 248600 Choreatic-disorders choreoathetoid movements neurologic 15712224
DLST 203740 Choreatic-disorders choreoathetoid movements neurologic 8295396
FXN 229300 Choreatic-disorders choreoform movements; tongue; hands neurologic 9539351 12112211 12480086 15376485
GCDH 231670 Choreatic-disorders choreoathetosis; choreatic movements neurologic 7795610 9850748 9856558 10407775 11825066 12888985 16377226
GLDC 605899 Choreatic-disorders choreoathetoid movements neurologic 15824356 15851735
HD 143100 Choreatic-disorders involuntary movements; choreic movements; face; extremities; fingers; choreic limb movements; choreiform movements neurologic 1532132 1825793 2945510 4280434 6217782 7473650 7845404 8474490 8929949 9443350 9506560 10348461 10483387 10644798 10749290 11719256 12075860 12559154 12820545 15021927 15042332 15076012 15121228 15515712 15526960 15878590 16452635
HSD17B10 300438 Choreatic-disorders choreoathetosis neurologic 11102558
OPA3 258501 Choreatic-disorders choreiform movements neurologic 7510656
OTC 311250 Choreatic-disorders choreiform movements; arms neurologic 12647200
PANK2 234200 Choreatic-disorders involuntary movements; choreoathetosis; choreo athetotic movements neurologic 7503394 12510040 16240131 16437574
PCCB 606054 Choreatic-disorders choreoathetosis neurologic 10488817
PDHX 245349 Choreatic-disorders choreiform movements; hands; fingers neurologic 14518830
SUOX 272300 Choreatic-disorders choreoathetosis neurologic 9600976
SURF1 220110 Choreatic-disorders choreoathetosis; jerking; extremities neurologic 14557577 16225813

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