Mitochondria Phenome Knowledgebase

Phenotypic Feature Dysarthria finds 30 Gene-Feature associations that are associated with 30 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCB7 301310 Dysarthria neurologic 4045952 11050011 11118249 11843825
ABCD1 300100 Dysarthria slurred speech; dysarthria; anarthria neurologic 9702690 10426149
AMACR 604489 Dysarthria cerebellar dysarthria neurologic 15249642
ATP7B 277900 Dysarthria severe dysarthria; barely comprehensible speech; slurred speech; monotone dysarthria neurologic 3595645 9706533 10864623 11086396 12376745 14639035 15557537
CLN3 204200 Dysarthria speech retardation; dysarthric neurologic 9311735 9450775 15634309
CPOX 121300 Dysarthria neurologic 11202054
CYP27A1 213700 Dysarthria spastic dysarthria; ataxic dysarthria neurologic 10430841 11903362 16157755
DMPK 160900 Dysarthria progressive dysarthria neurologic 15326270
ETHE1 602473 Dysarthria speech development delayed neurologic 9475600 12382164
FH 606812 Dysarthria dysarthric speech neurologic 1432428
FXN 229300 Dysarthria slurred speech; scanning speech; slow speech; dysarthric; ataxic speech; ataxic dysartria neurologic 4673109 9326946 10533031 10767311 11425956 11809170 12112211 12480086 12745158 12878293 15061120 15376485 16344344
GCDH 231670 Dysarthria neurologic 12888985 16377226
HD 143100 Dysarthria dysarthric speech neurologic 2945510 7845404 8474490 8929949 9443350 10023121 12075860 15042332
HSD17B10 300438 Dysarthria dysarthric neurologic 12555940 16148061
NDUFS7 252010 Dysarthria dysarthric neurologic 1770777 10360771
NDUFS8 252010 Dysarthria neurologic 15159508
OPA3 258501 Dysarthria neurologic 9097959
OTC 311250 Dysarthria slurred speech; dysarthria neurologic 12647200
PANK2 234200 Dysarthria hyperkinetic dysarthria; dysarthric; spastic flaccid dysarthria neurologic 7503394 12510040 12532925 12811783 15747360 15812126 15911822 16023068 16437574 16450344
PANK2 607236 Dysarthria dystonic dysarthria neurologic 7898702 14638969
PARK7 105500 Dysarthria slurred speech; speeking difficulties; dysarthric neurologic 16240358
PC 266150 Dysarthria dysarthric; dysgraphia neurologic 7822739 16325442
PCCB 606054 Dysarthria neurologic 9461363
PDHA1 312170 Dysarthria neurologic 15384102
PEO1 271245 Dysarthria dysarthric neurologic 8133312
PEO1 607459 Dysarthria dysarthric speech neurologic 15668446
POLG 258450 Dysarthria dysarthric; slurred speech neurologic 15477547
POLG 607459 Dysarthria neurologic 12565911 15824347
SLC25A15 238970 Dysarthria dysarthric; scanning speech neurologic 11355015 16376511
SOD1 105400 Dysarthria neurologic 9455983 12480087 16036438
SPAST 182601 Dysarthria slurring dysarthria neurologic 8931574 11723204 11843700 15667412
SPG7 607259 Dysarthria dysarthric; cerebellar dysarthria neurologic 9634528 14985266 16534102
TIMM8A 304700 Dysarthria dysarthric speech; deafness related dysarthria; deafness and subsequent dysarthria neurologic 8841189 12805099 15710860 16411215

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