Mitochondria Phenome Knowledgebase

Phenotypic Feature Cerebral-necrosis finds 28 Gene-Feature associations that are associated with 28 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Cerebral-necrosis neurologic 9702690
ATP7B 277900 Cerebral-necrosis neuronal necrosis neurologic 15909172
BCS1L 124000 Cerebral-necrosis white matter necrosis; cortex necrosis; Leigh like neurologic 11528392 12910490
BCS1L 603358 Cerebral-necrosis white matter abnormal; vermis abnormal; cerebellum abnormal; cerebral necrosis neurologic 7577396
COX10 220110 Cerebral-necrosis neurologic 12928484
CPS1 237300 Cerebral-necrosis necrotic fragmentation; Alzheimer type II astrocytes neurologic 11301219
DLD 248600 Cerebral-necrosis lesions characterized by demyelination necrosis necrosis spongiosis capillary proliferation; Leigh like neurologic 12925875
ETHE1 602473 Cerebral-necrosis symmetric lesions; deep gray matter neurologic 14732903
GCDH 231670 Cerebral-necrosis nucleus caudatus necrosis; putamen necrosis; striatum necrosis; striatal destruction; acute; stroke like; basal ganglia necrosis neurologic 1137568 7795610 10699052 11174631 12888985
HADH 231530 Cerebral-necrosis acute; neuronal necrosis; hypoxic ischemia like neurologic 10347277
HD 143100 Cerebral-necrosis progressive; necrosis caudate; necrosis putamen neurologic 9443350 15042332
HMGCL 246450 Cerebral-necrosis neurologic 11461194
LRRK2 607060 Cerebral-necrosis substantia nigra; substantia nigra pars compacta neurologic 7898705 15541309 15732106
NDUFA12L 252010 Cerebral-necrosis neurologic 16200211
NDUFS8 252010 Cerebral-necrosis spongiform degeneration; capillary proliferation; endothelial swelling; demyelinization; necrosis; Pathology findings; variable neurological damage; relative sparing of neurons in surrounding tissue; Leigh disease neurologic 9837812
NDUFV1 252010 Cerebral-necrosis MRI; symmetric areas of hyperintensity in the brain stem; basal ganglia; locus niger; gray matter degeneration with necrosis neurologic 11349233
OTC 311250 Cerebral-necrosis astrogliotic changes neurologic 11891099
PANK2 234200 Cerebral-necrosis irreversible; destructive processes leading to necrosis neurologic 15944911
PC 266150 Cerebral-necrosis neurologic 10323732
PCCB 606054 Cerebral-necrosis basal ganglia necrosis; fatal symmetric necrosis neurologic 9461363
PDHX 245349 Cerebral-necrosis basal ganglia necrosis neurologic 15303005
PEO1 607459 Cerebral-necrosis neurologic 15668446
POLG 203700 Cerebral-necrosis spongiform changes neurologic 15929042
POLG 258450 Cerebral-necrosis subependymal and subpial regions neurologic 15477547
POLG 607459 Cerebral-necrosis secondary neurologic 15824347
SCO2 604377 Cerebral-necrosis lateral globus pallidus; globus pallidus necrosis; putamen necrosis; ventroposterolateral thalamus necrosis; medulla abnormal; olives abnormal; bilateral neurologic 10545952 10749987 11673586
SDHA 252011 Cerebral-necrosis substantia nigra necrosis neurologic 1492653 7550341
SLC25A13 603471 Cerebral-necrosis laminoid necrosis; spongiform changes; alzheimer glia like neurologic 11153906
SOD1 105400 Cerebral-necrosis white matter necrosis; globus pallidus necrosis; subthalamic necrosis; thalamus necrosis; nucleus ambiguus necrosis; hypoglossal nucleus necrosis neurologic 10751275 14517684 15235802
SUOX 272300 Cerebral-necrosis Pathology findings; thalamus necrosis; basal ganglia necrosis; corpus striatum necrosis neurologic 9050047 10519592
SURF1 220110 Cerebral-necrosis neurologic 9837813 9843204 10746561

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