Mitochondria Phenome Knowledgebase

Phenotypic Feature Axonal-degeneration finds 17 Gene-Feature associations that are associated with 17 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Axonal-degeneration axonopathy; distal axonopathy neurologic 11739809 16672758
AMACR 604489 Axonal-degeneration lower extremities; upper extremities neurologic 10655068
ECGF1 603041 Axonal-degeneration neurologic 9683610 14720311 15742109
FXN 229300 Axonal-degeneration neuronal loss; large primary neurons; dorsal root ganglia abnormal; spinocerebellar degeneration; posterior columns degeneration; spinocerebellar tract degeneration; corticospinal motor tract degeneration; spinal cord degeneration; sensory fiber atrophy neurologic 11269509 12878293
GDAP1 214400 Axonal-degeneration signs of axonal degeneration; axonopathy neurologic 11743580 12499475 12707075 15944907 16343542
GDAP1 607706 Axonal-degeneration axonal loss; axonal regeneration; demyelinating features neurologic 11743580 12601710 12821518 15019704 15805163
GDAP1 608340 Axonal-degeneration axonal regeneration; axon demyelination neurologic 12566285
HADHB 609015 Axonal-degeneration biopsie finding; axonal degeneration; myelin degeneration neurologic 12754706
HSPD1 605280 Axonal-degeneration corticospinal tract degeneration; spinocerebellar tract degeneration neurologic 10677329 11898127
KIF1B 118210 Axonal-degeneration axonal atrophy; axonal regeneration; decreased number of myelinated fibers neurologic 9409358 11389829
MFN2 601152 Axonal-degeneration axonal neuropathy neurologic 16437557
MFN2 609260 Axonal-degeneration axonal atrophy; axonal degeneration; axonal regeneration; decreased number of myelinated fibers; axonal neuropathy; axonal loss neurologic 10732809 12601114 15064763 15549395 16087932 16714318
MLYCD 248360 Axonal-degeneration chronic axonal degeneration neurologic 12955715
PEO1 271245 Axonal-degeneration degeneration of myelinated fibers; motor neuron lesion; axonal clustering; endoneural fibrosis; posterior columns degeneration neurologic 8133312 9879682
PEO1 607459 Axonal-degeneration axonal neuropathy neurologic 15668446
POLG 258450 Axonal-degeneration axonopathy; axonal neuropathy; EMG finding neurologic 15477547 16715201
SCO2 604377 Axonal-degeneration patchy loss of motor neurons neurologic 10545952
SOD1 105400 Axonal-degeneration upper motor neurons; lower motor neurons; motor neuron degeneration; motoneurons impaired; hyaline conglomerate inclusions in surviving motor neurons; HCI neurologic 10732812 12480087 14759637 16423367
SPAST 182601 Axonal-degeneration Pathology findings; corticospinal tracts abnormal; myelin pallor; loss of axons; lateral corticospinal tracts abnormal; ventral corticospinal tracts abnormal neurologic 10610178 11015453
SPG7 607259 Axonal-degeneration axonopathy neurologic 9635427 16239145 16534102
TIMM8A 304700 Axonal-degeneration nervous brachialis displayed axonal degeneration neurologic 11803487

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