Mitochondria Phenome Knowledgebase

Phenotypic Feature Neurodegenerative-diseases finds 25 Gene-Feature associations that are associated with 25 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Neurodegenerative-diseases olivopontocerebellar degenerations; neurodegeneration neurologic 9702690 11438993 11810273 15564782
ALDH18A1 138250 Neurodegenerative-diseases progressive neurodegeneration; progressive neurological dysfunction neurologic 11092761 15517380
BCKDHB 248600 Neurodegenerative-diseases neurologic 11509994
CLN3 204200 Neurodegenerative-diseases neurodegenerative disorder neurologic 7553855 9392580 10964839 15634309 16087292
CYP27A1 213700 Neurodegenerative-diseases neurodegenerative disorder; neurodegenerative processes; neurodegenerative neurologic 14572142 16157755
DBT 248600 Neurodegenerative-diseases neurodegenerative consequences neurologic 14741190
FXN 229300 Neurodegenerative-diseases neurodegeneration; neurodegenerative disorder neurologic 9326946 10607838 10767311 11351269 12745158
GCDH 231670 Neurodegenerative-diseases neurodegenerative disorder neurologic 1137568 11174631
HD 143100 Neurodegenerative-diseases neurodegenerative disorder; neurodegeneration; striatal degeneration neurologic 2945510 6217782 7473650 8929949 9443350 12075490 12075860 15021927 15338298 15526960 15878590 16289240 16452635
HSD17B10 300438 Neurodegenerative-diseases progressive neurologic 11102558 14729408
HTRA2 168600 Neurodegenerative-diseases neurodegeneration neurologic 15961413
LRRK2 607060 Neurodegenerative-diseases brainstem; dopaminergic degeneration neurologic 7898705 15541308 15541309 15680456 15732106
OAT 258870 Neurodegenerative-diseases degenerative lesions in the white matter; degenerative changes neurologic 10430418 10604138
PANK2 234200 Neurodegenerative-diseases neurodegeneration with brain iron accumulation; NBIA; neuroaxonal; deterioration; neurodegenerative disorder neurologic 7503394 12510040 12532925 15465096 16149094 16240131 16437574
PANK2 607236 Neurodegenerative-diseases globus pallidus abnormal; pallidal degeneration neurologic 7898702 14638969
PARK7 105500 Neurodegenerative-diseases neurodegenerative disorder neurologic 16240358
PEO1 271245 Neurodegenerative-diseases neurodegenerative disorder; loss of myelinated fibers; progressive neurologic 8133312 9879682 16135556
PINK1 605909 Neurodegenerative-diseases neurodegenerative disorder neurologic 15087508 15349871 16207217
POLG 157640 Neurodegenerative-diseases neurologic 15351195
POLG 203700 Neurodegenerative-diseases neurodegeneration neurologic 16545482
SDHA 252011 Neurodegenerative-diseases neurologic 1492653 7550341 10976639
SOD1 105400 Neurodegenerative-diseases neurodegenerative disease; progressive neurologic 7624031 7647793 10732812 14759637 15235802
SPAST 182601 Neurodegenerative-diseases neurodegenerative disease; progressive neurologic 10610178 11015453 11309678 11723204 11843700 12124993 12202986 15210521 15667412
SPG7 607259 Neurodegenerative-diseases corticospinal tract degeneration; fasciculus gracilis degeneration neurologic 9635427 14623864 16239145 16534102
SURF1 220110 Neurodegenerative-diseases neurodegenerative condition neurologic 9843204
TIMM8A 304700 Neurodegenerative-diseases progressive neurodegeneration neurologic 8841189 10878669 11449109 11803487 15710860
WFS1 222300 Neurodegenerative-diseases neurodegenerative features neurologic 7490992 10521293 11260218 12754709 15151504 15277431 16005363

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