Mitochondria Phenome Knowledgebase

Phenotypic Feature Reflexes-abnormal finds 119 Gene-Feature associations that are associated with 78 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 6148708 9746906 10407778
ABAT 137150 Reflexes-abnormal neurologic #6148708 #9746906 #10407778
ABCB7 301310 Hyporeflexia hypoactive; deep tendon reflexes abnormal neurologic 11050011
ABCB7 301310 Reflexes-abnormal neurologic #4045952 #11050011 #11118249 #11843825
ABCD1 300100 Reflexes-abnormal neurologic #9702690 #10369742 #10426149 #10980309 #11204280 #11739809 #15564782 #16672758
ACADS 201470 Reflexes-abnormal neurologic #7776094 #9932958 #15534767
ACADVL 201475 Reflexes-abnormal neurologic #11433098
ACSL4 300387 Reflexes-abnormal neurologic #11889465
ALDH18A1 138250 Hyperreflexia deep tendon reflexes abnormal; brisk reflexes neurologic 15517380
ALDH18A1 138250 Reflexes-abnormal neurologic #15517380
ALDH5A1 271980 Reflexes-abnormal neurologic #9093300 #9266358 #9683595 #12743223 #15059623
AMACR 604489 Reflexes-abnormal neurologic #15249642
ATP7B 277900 Hyperreflexia deep tendon reflexes abnormal; slightly exaggerated; brisk jaw jerk; brisk reflexes neurologic 9160075 11086396 14639035 15557537 15636319
ATP7B 277900 Reflexes-abnormal neurologic #9160075 #11086396 #14639035 #15557537 #15636319
AUH 250950 Reflexes-abnormal neurologic #9762598
BCKDHA 248600 Reflexes-abnormal neurologic #7883996 #12042535
BCS1L 124000 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 11528392
BCS1L 124000 Reflexes-abnormal neurologic #11528392
CLN3 204200 Reflexes-abnormal neurologic #15032383
COX10 220110 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 15455402
COX10 220110 Reflexes-abnormal neurologic #2834526 #10767350 #15455402
COX15 220110 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15863660
COX15 220110 Reflexes-abnormal neurologic #15863660
CPT1A 255120 Reflexes-abnormal neurologic #9691089
CYP27A1 213700 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 9186905 16157755 16278884
CYP27A1 213700 Reflexes-abnormal neurologic #3344851 #7315872 #8514861 #9186905 #10430841 #10775536 #14572142 #16157755 #16278884
DGUOK 251880 Reflexes-abnormal neurologic #12210798 #15964659
DLAT 245348 Hyperreflexia brisk; deep tendon reflexes abnormal; recruitment upper limbs neurologic 16049940
DLAT 245348 Reflexes-abnormal neurologic #16049940
DLD 248600 Hyperreflexia brisk; deep tendon reflexes abnormal; progressive neurologic 8652022 10448086
DLD 248600 Reflexes-abnormal neurologic #8652022 #10448086 #14765544
DLST 203740 Reflexes-abnormal neurologic #8295396
DMPK 160900 Reflexes-abnormal neurologic #9521960 #10391974 #10690232 #11424841 #11807903 #11874420
ECGF1 603041 Reflexes-abnormal neurologic #9683610 #12177387 #14720311 #14757860 #15742109 #16178026 #16198108 #16294144 #16498612 #16530527
ETHE1 602473 Hyperreflexia deep tendon reflexes abnormal; clonus neurologic 9475600 12382164
ETHE1 602473 Reflexes-abnormal neurologic #1683940 #7726376 #9475600 #12382164 #14732903
FH 606812 Hyperreflexia hyperexcitability; brisk; deep tendon reflexes abnormal; hyperactive reflexes neurologic 1432428 16151915
FH 606812 Reflexes-abnormal neurologic #1432428 #16151915
FXN 229300 Reflexes-abnormal neurologic #4673109 #6231891 #9326946 #9539351 #10533031 #10607838 #10767311 #11425956 #12112211 #12480086 #12745158 #12878293 #15376485 #16344344
GCDH 231670 Hyperreflexia exaggerated; tendon stretch reflexes abnormal; hyperactive reflexes neurologic 11174631 12473778
GCDH 231670 Reflexes-abnormal neurologic #11174631 #12473778
GDAP1 214400 Reflexes-abnormal neurologic #12499475 #12707075 #15377708 #15944907 #16343542
GDAP1 607706 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 12821518 15019704 15805163
GDAP1 607706 Reflexes-abnormal neurologic #12821518 #15019704 #15805163
GDAP1 608340 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 12566285
GDAP1 608340 Reflexes-abnormal neurologic #12566285
GLDC 605899 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15851735
GLDC 605899 Reflexes-abnormal neurologic #15851735
HADHA 609015 Reflexes-abnormal neurologic #15902556
HADHA 609016 Reflexes-abnormal neurologic #8094173 #9003853
HD 143100 Reflexes-abnormal neurologic #7845404 #9443350 #10644798 #10749290 #11524486
HMGCL 246450 Hyperreflexia exaggerated; increased; deep tendon reflexes abnormal neurologic 1886403 9463337
HMGCL 246450 Reflexes-abnormal neurologic #1886403 #9463337
HSD17B10 300438 Hyperreflexia hyperreflexic; deep tendon reflexes abnormal neurologic 12555940 14729408
HSD17B10 300438 Reflexes-abnormal neurologic #12555940 #14729408
HSPD1 605280 Reflexes-abnormal neurologic #10677329 #11898127
IVD 243500 Reflexes-abnormal neurologic #10191353
KIF1B 118210 Reflexes-abnormal neurologic #9409358 #11389829
LRRK2 607060 Reflexes-abnormal neurologic #15732106
MCCC1 210200 Reflexes-abnormal neurologic #11893004
MCCC2 210210 Reflexes-abnormal neurologic #15877210
MFN2 609260 Hyporeflexia areflexia; lower extremities; ankle reflexes absent; deep tendon reflexes abnormal; achilles reflexes absent neurologic 8406488 9409358 10732809 11148244 15064763 15136675 15549395 16043786 16714318
MFN2 609260 Reflexes-abnormal neurologic #8406488 #9409358 #10732809 #11148244 #12601114 #15064763 #15136675 #15549395 #16043786 #16087932 #16714318
MLYCD 248360 Reflexes-abnormal neurologic #12955715
MPV17 256810 Reflexes-abnormal neurologic #185990 #10518083 #11431741
NAGS 237310 Hyperreflexia exaggerated; increased; deep tendon reflexes abnormal neurologic 9877039 12754705
NAGS 237310 Reflexes-abnormal neurologic #9877039 #12754705
NDUFA12L 252010 Reflexes-abnormal neurologic #16200211
NDUFS1 252010 Hyperreflexia clonus; deep tendon reflexes abnormal; hyperactive reflexes neurologic 11349233 15576045 15824269
NDUFS1 252010 Reflexes-abnormal neurologic #11349233 #15576045 #15824269
NDUFS2 252010 Reflexes-abnormal neurologic #11220739
NDUFS2 252010 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 11220739
NDUFS3 252010 Reflexes-abnormal neurologic #14729820
NDUFS4 252010 Reflexes-abnormal neurologic #9463323 #12616398
NDUFS6 252010 Reflexes-abnormal neurologic #15372108
NDUFS7 252010 Hyperreflexia increased; tendon reflexes abnormal neurologic 10360771
NDUFS7 252010 Reflexes-abnormal neurologic #10360771
NDUFS8 252010 Hyperreflexia clonus; brisk; deep tendon reflexes abnormal neurologic 9837812
NDUFS8 252010 Reflexes-abnormal neurologic #9837812
OPA3 165300 Reflexes-abnormal neurologic #15342707
OTC 311250 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12647200
OTC 311250 Reflexes-abnormal neurologic #12647200
OXCT1 245050 Reflexes-abnormal neurologic #11757586
PANK2 234200 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 7503394 12510040 12811783 14639680 15465096 15812126 16450344
PANK2 234200 Reflexes-abnormal neurologic #7503394 #12510040 #12532925 #12811783 #14639680 #15465096 #15812126 #15944911 #16437574 #16450344
PANK2 607236 Hyperreflexia extremities; brisk; reflexes abnormal neurologic 14638969
PANK2 607236 Reflexes-abnormal neurologic #14638969
PARK7 105500 Hyperreflexia brisk; deep tendon reflexes abnormal; upper extremities; lower extremities neurologic 16240358
PARK7 105500 Reflexes-abnormal neurologic #16240358
PARK7 606324 Reflexes-abnormal neurologic #11462174 #12446870
PC 266150 Reflexes-abnormal neurologic #16278852
PDHA1 308930 Reflexes-abnormal neurologic #8982956 #9187674
PDHA1 312170 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15473177 16256390
PDHA1 312170 Hyporeflexia areflexia; deep tendon reflexes abnormal neurologic 9187674 9686362 15558317 16552546
PDHA1 312170 Reflexes-abnormal neurologic #9187674 #9686362 #15473177 #15558317 #16256390 #16552546
PDHB 179060 Reflexes-abnormal neurologic #15138885
PDHX 245349 Reflexes-abnormal neurologic #12557299 #15303005
PDHX 245349 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15303005
PEO1 271245 Hyporeflexia reflex loss; deep tendon reflexes abnormal neurologic 8133312 8159181 8552218 9879682 16135556
PEO1 271245 Reflexes-abnormal neurologic #8133312 #8159181 #8552218 #9879682 #16135556
PEO1 607459 Reflexes-abnormal neurologic #15668446
PEO1 609286 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12163192
PEO1 609286 Reflexes-abnormal neurologic #12163192 #15258213
PINK1 605909 Reflexes-abnormal neurologic #11254447 #15349860 #15349870 #15505170 #15955953 #16009891 #16401616
POLG 157640 Reflexes-abnormal neurologic #15351195 #15534189
POLG 203700 Reflexes-abnormal neurologic #15689359
POLG 258450 Reflexes-abnormal neurologic #12975295 #14694057 #15477547 #16715201
POLG 607459 Reflexes-abnormal neurologic #12565911 #15824347
SCO2 604377 Reflexes-abnormal neurologic #10805329 #14994243 #15499950
SDHA 252011 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 16361598
SDHA 252011 Reflexes-abnormal neurologic #16361598
SLC25A13 603471 Reflexes-abnormal neurologic #12512993 #15805705
SLC25A15 238970 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 10369256 11355015 11552031
SLC25A15 238970 Reflexes-abnormal neurologic #1432421 #10369256 #10805333 #11355015 #11552031 #11668643
SLC25A16 275000 Reflexes-abnormal neurologic #2575220
SLC25A19 607196 Reflexes-abnormal neurologic #12185364 #12376931
SLC25A20 212138 Hyporeflexia reflexes decreased; areflexia; deep tendon reflexes abnormal neurologic 10876004 15365988
SLC25A20 212138 Reflexes-abnormal neurologic #10876004 #15365988
SOD1 105400 Hyperreflexia brisk; exaggerated; upper limb reflexes abnormal neurologic 7624031 8907321 10430435 12480087 14759637 16423367
SOD1 105400 Reflexes-abnormal neurologic #7624031 #8907321 #9444365 #9455977 #9455983 #10430435 #10809943 #12480087 #14517684 #14759637 #15851752 #16423367
SPAST 182601 Reflexes-abnormal neurologic #8931574 #10699187 #10980739 #11015453 #11134375 #11266693 #11309678 #11723204 #11843700 #12124993 #12163196 #12202986 #12552568 #15197701 #15210521 #15326248 #15667412
SPAST 182601 Hyperreflexia brisk; lower extremities reflexes abnormal neurologic 8931574 10699187 10980739 11015453 11134375 11266693 11309678 11723204 11843700 12124993 12163196 12202986 12552568 15197701 15210521 15326248 15667412
SPG7 607259 Hyperreflexia brisk; lower extremities reflexes abnormal; brisk knee jerks; plantar reflexes increased neurologic 9634528 11222789 14985266 16534102
SPG7 607259 Reflexes-abnormal neurologic #9634528 #11222789 #14985266 #16534102
SUOX 272300 Reflexes-abnormal neurologic #12368985 #15952210 #16140720
SUOX 272300 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12368985 15952210 16140720
SURF1 220110 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 9837813 16225813
SURF1 220110 Reflexes-abnormal neurologic #9837813 #10647889 #10746561 #16225813
TIMM8A 304700 Hyperreflexia clonus; brisk; deep tendon reflexes abnormal neurologic 8841189 10878669 11405816 12805099
TIMM8A 304700 Reflexes-abnormal neurologic #8841189 #10878669 #11405816 #12805099
TK2 609560 Hyporeflexia areflexia; reduced reflexes; deep tendon reflexes abnormal neurologic 12269728 12391347 12682338 12873860 16504786
TK2 609560 Reflexes-abnormal neurologic #12269728 #12391347 #12682338 #12873860 #16504786

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