Mitochondria Phenome Knowledgebase

Phenotypic Feature Cerebral-atrophy finds 60 Gene-Feature associations that are associated with 60 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABCD1 300100 Cerebral-atrophy brain stem abnormal; parietooccipital atrophy neurologic 9702690
ACADS 201470 Cerebral-atrophy CT findings; atrophy; ventricular dilatation; wide extracerebral space neurologic 9578969 15534767
ALDH5A1 271980 Cerebral-atrophy neurologic 12743223
AMACR 604489 Cerebral-atrophy MRI findings neurologic 11861706
AMT 605899 Cerebral-atrophy cerebral atrophy neurologic 8005589
ATP7B 277900 Cerebral-atrophy parenchymal brain; cortical atrophy; CT findings neurologic 11086396 12376745 15636319
ATPAF2 604273 Cerebral-atrophy cortical atrophy; subcortical; basal ganglia neurologic 14757859
BCS1L 124000 Cerebral-atrophy MRI findings; considerable atrophy; cerebral atrophy neurologic 11528392
CLN3 204200 Cerebral-atrophy cortical atrophy; central atrophy; brain atrophy; mild to moderate cerebral atrophy; enlarged ventricles; global cerebral atrophy neurologic 7553855 9392580 9450775 10720276 15032383
CPS1 237300 Cerebral-atrophy diffuse atrophy; caudate nuclei atrophic; basal ganglia atrophic neurologic 11301219 15617192
CPT2 600649 Cerebral-atrophy ventriculomegaly; cerebral atrophy neurologic 11477613
CYB5R3 250800 Cerebral-atrophy MRI findings; cortical atrophy; frontal; bitemporal neurologic 10874300
CYBA 233690 Cerebral-atrophy cortical atrophy neurologic 1763037
CYP27A1 213700 Cerebral-atrophy MRI findings; brain atrophy; diffuse; cortical atrophy; ventricular enlargement; brain xanthomas; supratentorial atrophy; infratentotial atrophy; global atrophy neurologic 8514861 10519880 10775536 12000359 14572142 16157755
DGUOK 251880 Cerebral-atrophy enlarged external cerebrospinal fluid spaces; cerebral atrophy neurologic 15883261
DLD 248600 Cerebral-atrophy cortical atrophy; variable neurologic 12925875 15712224
DMPK 160900 Cerebral-atrophy progressive; cortical atrophy; subcortical atrophy; ventricle dilatations; ventriculomegaly; brain atrophy neurologic 10323316 10385049 11807903 12639730
ETHE1 602473 Cerebral-atrophy MRI findings; brain atrophy; pericerebral spaces enlarged neurologic 12382164
FH 606812 Cerebral-atrophy cerebral atrophy; cortical atrophy; ventricle dilatations neurologic 1432428 9635293 15221078 16151915
GCDH 231670 Cerebral-atrophy frontotemporal atrophy; widening of cortical sulci; temporal lobe atrophy; dilation of lateral ventricles; generalized atrophy; neocortical hypoplasia neurologic 7564239 7795610 9856558 10407775 11174631 11825066 12888985 15985591
GFM1 609060 Cerebral-atrophy generalized; cerebral atrophy neurologic 15537906
GLDC 605899 Cerebral-atrophy MRI findings; central volume loss; ventricular dilatation; cerebral atrophy neurologic 15824356 15851735
HADHA 609016 Cerebral-atrophy brain atrophy neurologic 9003853
HD 143100 Cerebral-atrophy gyral atrophy; basal ganglia atrophy; subcortical atrophy; cortical atrophy; cortical volume reduction; cerebral atrophy; shrinkage of brain tissue neurologic 1825793 6217782 7845404 9443350 10644798 11524486 12075860 15338298
HLCS 253270 Cerebral-atrophy white matter atrophy; grey matter atrophy; ventricle dilatation; subarachnoidal space dilatation neurologic 12855220
HMGCL 246450 Cerebral-atrophy MRI findings; cerebral atrophy neurologic 11461194
HSD17B10 300438 Cerebral-atrophy frontotemporal atrophy; cortical atrophy; sub cortical atrophy; brain atrophy neurologic 11102558 12112118 12555940 12696021 14729408 15059617 16148061
MCCC1 210200 Cerebral-atrophy MRI findings; frontoparietal atrophy; white matter abnormal; cortical frontal lobes abnormal neurologic 11893004 15359379
MCCC2 210210 Cerebral-atrophy ventricular dilatation; brain atrophy neurologic 9537490 15877210
MLYCD 248360 Cerebral-atrophy generalized; cerebral atrophy neurologic 16275149
MRPS16 609204 Cerebral-atrophy dilatation of cerebral ventricles; cerebral atrophy neurologic 15505824
MTRR 236270 Cerebral-atrophy atrophic; brain demyelinization; cortical atrophy; periventricular atrophy; cerebral atrophy neurologic 10484769 12555939
NAGS 237310 Cerebral-atrophy MRI findings; ventricle dilatation; myelination impaired; parietal lobes abnormal; bilaterally symmetric neurologic 12447942
NDUFA12L 252010 Cerebral-atrophy cortical atrophy neurologic 16200211
NDUFS2 252010 Cerebral-atrophy ventriculomegaly; cerebral atrophy neurologic 11220739
NDUFS4 252010 Cerebral-atrophy MRI findings; brainstem; generalized brain atrophy; cerebral atrophy neurologic 9463323 12616398 14765537
NDUFV1 252010 Cerebral-atrophy CT findings; brain atrophy neurologic 10080174 11349233
OAT 258870 Cerebral-atrophy MRI findings; increase in the number of Virchows spaces; virchow robin spaces abnormal; atrophic brain changes; cortical atrophy; ventricle dilatation neurologic 10430418 10604138
OTC 311250 Cerebral-atrophy cerebral atrophy; cortical atrophy neurologic 429491 10885542
PANK2 234200 Cerebral-atrophy progressive; brain atrophy; generalized neurologic 15944911
PARK7 105500 Cerebral-atrophy cortical atrophy neurologic 16240358
PCCB 606054 Cerebral-atrophy frontal atrophy; cortical atrophy; subcortical atrophy; brain atrophy; cerebral cortical atrophy neurologic 10488817 10780784 12409268
PDHA1 312170 Cerebral-atrophy MRI findings; CT findings; cortical atrophy; dilated ventricles; subcortical atrophy neurologic 9686362 10486093 10679936 15384102 16256390
PDHX 245349 Cerebral-atrophy MRI findings; bilateral symmetric; signal intensity abnormalities; ventricles enlarged; cerebral atrophy; subarachnoid space enlarged neurologic 9501264 15303005 16566017
PEO1 271245 Cerebral-atrophy brain stem atrophy; cortical atrophy; cortical subacute atrophy neurologic 9027505 9879682 16135556
PEO1 607459 Cerebral-atrophy cortical atrophy neurologic 15668446
POLG 203700 Cerebral-atrophy MRI findings; diffuse; cerebral volume loss; ventriculomegaly neurologic 15689359 15929042 16177225 16545482
SCO2 604377 Cerebral-atrophy enlarged ventricles; prominent sulci; basal ganglia abnormal; brain atrophy; cortical atrophy neurologic 10545952 10749987 11673586 14994243 15499950
SDHA 252011 Cerebral-atrophy ventricular enlargement; cerebral atrophy neurologic 16361598
SLC25A13 605814 Cerebral-atrophy brain atrophy neurologic 12111366
SLC25A15 238970 Cerebral-atrophy cortical atrophy; atrophy of subtentorial structures neurologic 11552031
SLC25A20 212138 Cerebral-atrophy MRI findings; cortical volume loss; myelination abnormal neurologic 15365988
SLC25A22 609304 Cerebral-atrophy frontal; subarachnoid enlargement; cerebral atrophy neurologic 15592994
SLC25A4 609283 Cerebral-atrophy cortex atrophy; temporoparietal cortex atrophy neurologic 12565915
SPG7 607259 Cerebral-atrophy MRI findings; cortical atrophy neurologic 9635427
STAR 201710 Cerebral-atrophy MRI findings; cerebro cortical atrophy; frontal atrophy; temporal atrophy; subarachnoid spaces enlarged; cerebral atrophy neurologic 9141542 16118340
SUCLA2 609560 Cerebral-atrophy MRI findings; widening of cortical sulci; dilation of lateral ventricles; generalized atrophy; cerebral atrophy neurologic 15877282
SUOX 272300 Cerebral-atrophy MRI findings; signal intensity abnormalities; hemispheres abnormal; venricles enlarged; brain atrophy; brainstem atrophy; cerebral volume loss neurologic 10519592 12001203 15952210 16140720
TIMM8A 304700 Cerebral-atrophy cortical atrophy; parietal lobes atrophy; occipital and rostral parietal lobes abnormal neurologic 11405816 11449109 11803487 12805099
TIMM8A 311150 Cerebral-atrophy Pathology findings; nervous system atrophy; cortical atrophy neurologic 3425626 7195649 11803487
TK2 609560 Cerebral-atrophy cortical atrophy; diffuse neurologic 16504786
WFS1 222300 Cerebral-atrophy brain stem atrophy; brain stem abnormal; medulla abnormal; generalized; posterior pituitary abnormal; lack of neurohypophysis neurologic 10521293 11260218 15151504 15277431

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