Mitochondria Phenome Knowledgebase

Phenotypic Feature Proprioception-impaired finds 13 Gene-Feature associations that are associated with 13 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Proprioception-impaired reduced sensation to vibration neurologic 7849723 10980309 11739809 16672758
CLN3 204200 Proprioception-impaired vibratory loss; position loss neurologic 9450775
CYP27A1 213700 Proprioception-impaired vibratory sense diminished; lower extremities neurologic 16157755
FXN 229300 Proprioception-impaired vibration sense loss; lower extremities; decreased vibration sense neurologic 4673109 10533031 10767311 12112211 12480086 12745158 12878293 16344344
GDAP1 214400 Proprioception-impaired vibration sense impaired; mild neurologic 11743579
GDAP1 607706 Proprioception-impaired vibration sense loss; lower extremities neurologic 12601710 12821518 15805163
GDAP1 608340 Proprioception-impaired feet; lower extremities neurologic 12566285
HSPD1 605280 Proprioception-impaired vibration sense loss; lower extremities neurologic 10677329 11898127
MFN2 601152 Proprioception-impaired vibration sense loss; lower extremities neurologic 16437557
MFN2 609260 Proprioception-impaired lower extremities; mild; normal to decreased neurologic 15549395 16043786 16714318
OAT 258870 Proprioception-impaired vibratory detection thresholds elevated neurologic 12221166
PEO1 271245 Proprioception-impaired neurologic 8133312 9879682
PEO1 607459 Proprioception-impaired vibration and proprioception absent at the great toe neurologic 15668446
POLG 157640 Proprioception-impaired vibration sense loss; lower extremities neurologic 12975295 15534189
POLG 258450 Proprioception-impaired vibration sense loss; lower extremities; ankle vibration sense impaired neurologic 12975295 15477547 16715201
POLG 607459 Proprioception-impaired vibratory sensation decreased neurologic 12565911 15824347
SLC25A15 238970 Proprioception-impaired vibration sense loss neurologic 1432421
SPAST 182601 Proprioception-impaired vibration impaired; lower extremities neurologic 8931574 10699187 11015453 11134375 11723204 12163196 15197701 15210521
SPG7 607259 Proprioception-impaired vibration sense diminished; lower extremities neurologic 9634528 9635427 11222789 16534102

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