Mitochondria Phenome Knowledgebase

Phenotypic Feature Spinal-cord-diseases finds 29 Gene-Feature associations that are associated with 29 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Spinal-cord-diseases adrenomyeloneuropathy; myelopathy; altered spinal cord; distal axonopathy; thoracic cord atrophy; cervical cord atrophy neurologic 9702690 10426149 11438993 11739809 11810273 15564782 16672758
AMACR 604489 Spinal-cord-diseases adrenomyeloneuropathy; myelopathy neurologic 10655068
ATP7B 277900 Spinal-cord-diseases corticospinal tract abnormalites neurologic 8585490
BCKDHA 248600 Spinal-cord-diseases corticospinal tract dysfunction neurologic 12042535
BCS1L 124000 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 11528392
COX10 220110 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 12928484
COX15 220110 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 15235026 15863660
CYP27A1 213700 Spinal-cord-diseases demyelination; corticospinal tract; myelopathy; spinal cord syndrome; spinal xanthomatosis; spinal cord abnormal; gliosis neurologic 10430841 14572142
DLD 248600 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 2909916 8652022 12925875
ETHE1 602473 Spinal-cord-diseases MRI findings; spinal cord conus; filum terminale fat signals; spinal cord tethering; spinal cord malformations neurologic 9475600
FXN 229300 Spinal-cord-diseases degenerative atrophy; posterior columns; lateral columns; spinal cord degeneration; corticospinal tract degeneration; myelopathy; spinocerebellar tract degeneration; abnormal caliber of the superior spinal cord neurologic 10369742 10767311 11269509 12745158 12878293
HSPD1 605280 Spinal-cord-diseases spinal cord degeneration; corticospinal tract degeneration; long ascending tract degeneration; long descending tract degeneration; myelopathy neurologic 10677329 11898127
LRPPRC 220111 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 8392290 8392291
NDUFA12L 252010 Spinal-cord-diseases myelomalacia; encephalomyelopathy; Leigh like neurologic 16200211
NDUFS1 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 15824269
NDUFS3 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 14729820
NDUFS4 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like; medulla oblongata lesions neurologic 10944442 12616398 14765537
NDUFS7 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 1770777
NDUFS8 252010 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 9837812
PDHA1 308930 Spinal-cord-diseases subacute necrotizing; Leigh like; encephalomyelopathy neurologic 1641082 7898978 8498846 9187674
PDHA1 312170 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 9686362 10679936
PDHX 245349 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 8229524 9399911
PEO1 271245 Spinal-cord-diseases spinal cord atrophy; medulla oblongata atrophy; Pathology findings; spinal cord flattened; thoracic cord thinned; posterior columns degeneration neurologic 9027505 9879682 16135556
SCO2 604377 Spinal-cord-diseases encephalomyelopathy; myelopathy; Leigh like neurologic 10545952 11673586 16326995
SDHA 252011 Spinal-cord-diseases subacute necrotizing; encephalomyelopathy; Leigh like neurologic 1492653 7550341
SOD1 105400 Spinal-cord-diseases spinal cord atrophy; anterior horn atrophy; posterior column degeneration; sudanophilic droplets in the lateral corticospinal tract; spinocerebellar tract abnormalities neurologic 7647793 9444365 10732812 10751275 14517684 15235802 16423367
SPAST 182601 Spinal-cord-diseases corticospinal tracts impaired; spinal cord involvement; myelin loss neurologic 11015453
SPG7 607259 Spinal-cord-diseases degeneration of corticospinal axons neurologic 11222789 16239145
SURF1 220110 Spinal-cord-diseases subacute necrotizing; encephalomyelopathy; Leigh like; medulla oblongata abnormal neurologic 9837813 9843204 10746561 14557577 16225813 16326995
TIMM8A 304700 Spinal-cord-diseases spinal cord atrophy; fiber loss; dorsal roots abnormal; posterior columns abnormal neurologic 11803487

©2006-2009 Stanford Genome Technology Center, Stanford University | Webmastercreative commons