Mitochondria Phenome Knowledgebase

Phenotypic Feature Basal-ganglia-diseases finds 11 Gene-Feature associations that are associated with 11 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ATP7B 277900 Basal-ganglia-diseases basal ganglia degeneration; basal ganglia softening; basal ganglia hypodensities; CT findings neurologic 8585490 15636319
AUH 250950 Basal-ganglia-diseases atrophy; basal ganglia atrophy neurologic 6181239 9762598
CYB5R3 250800 Basal-ganglia-diseases MRI findings; hypoplasia neurologic 10874300
GCDH 231670 Basal-ganglia-diseases basal ganglia atrophy; basal ganglia degeneration; basal ganglia pathology neurologic 7564239 7795610 10699052 11058907 12888985
HD 143100 Basal-ganglia-diseases reduced volume; basal ganglia atrophy; basal ganglia degeneration; nucleus caudatus atrophy; basal ganglia metabolism abnormal neurologic 1825793 2945510 9443350 9771791 10483387 10749290 11719256 12559154 12820545 15021927 15042332 15338298 15526960
HSD17B10 300438 Basal-ganglia-diseases symmetrical alterations neurologic 14729408
PANK2 234200 Basal-ganglia-diseases basal ganglia degeneration neurologic 15465096 15911822 16437574 16450344
PCCA 606054 Basal-ganglia-diseases MRI findings; bilateral symmetric; basal ganglia abnormal neurologic 9461363
PCCB 606054 Basal-ganglia-diseases MRI findings; bilateral symmetric; basal ganglia necrosis; fatal symmetric necrosis neurologic 9461363 10488817 16324621
PDHA1 312170 Basal-ganglia-diseases MRI findings; bilateral symmetric; basal ganglia abnormal; Leigh like neurologic 12163191 12379317
PDHX 245349 Basal-ganglia-diseases MRI findings; bilateral symmetric; signal intensity abnormalities; basal ganglia abnormal; basal ganglia atrophy; basal ganglia lesions; basal ganglia necrosis neurologic 14518830 15303005 16566017

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