Mitochondria Phenome Knowledgebase

Phenotypic Feature Hyperreflexia finds 50 Gene-Feature associations that are associated with 50 Genes

Gene OMIM Disease Phenotypic Feature Phenotype Annotation Clinical Category PMIDs
ABAT 137150 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 6148708 9746906 10407778
ABCB7 301310 Hyperreflexia brisk deep tendon reflexes neurologic 4045952 11118249 11843825
ABCD1 300100 Hyperreflexia increased deep tendon reflexes; female carriers; jaw hyperreflexia; arm hyperreflexia neurologic 9702690 10426149 10980309 11204280 11739809 15564782 16672758
ACADS 201470 Hyperreflexia neurologic 7776094
ACSL4 300387 Hyperreflexia reflexes increased neurologic 11889465
ALDH18A1 138250 Hyperreflexia deep tendon reflexes abnormal; brisk reflexes neurologic 15517380
AMACR 604489 Hyperreflexia neurologic 15249642
ATP7B 277900 Hyperreflexia deep tendon reflexes abnormal; slightly exaggerated; brisk jaw jerk; brisk reflexes neurologic 9160075 11086396 14639035 15557537 15636319
AUH 250950 Hyperreflexia generalized hyperreflexia neurologic 9762598
BCKDHA 248600 Hyperreflexia brisk reflexes; lower extremities neurologic 7883996 12042535
BCS1L 124000 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 11528392
COX10 220110 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 15455402
COX15 220110 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15863660
CYP27A1 213700 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 9186905 16157755 16278884
DGUOK 251880 Hyperreflexia neurologic 12210798 15964659
DLAT 245348 Hyperreflexia brisk; deep tendon reflexes abnormal; recruitment upper limbs neurologic 16049940
DLD 248600 Hyperreflexia brisk; deep tendon reflexes abnormal; progressive neurologic 8652022 10448086
DLST 203740 Hyperreflexia neurologic 8295396
ETHE1 602473 Hyperreflexia deep tendon reflexes abnormal; clonus neurologic 9475600 12382164
FH 606812 Hyperreflexia hyperexcitability; brisk; deep tendon reflexes abnormal; hyperactive reflexes neurologic 1432428 16151915
FXN 229300 Hyperreflexia brisk reflexes neurologic 11425956
GCDH 231670 Hyperreflexia exaggerated; tendon stretch reflexes abnormal; hyperactive reflexes neurologic 11174631 12473778
GLDC 605899 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15851735
HD 143100 Hyperreflexia brisk tendon reflexes neurologic 7845404 9443350 10644798 10749290 11524486
HMGCL 246450 Hyperreflexia exaggerated; increased; deep tendon reflexes abnormal neurologic 1886403 9463337
HSD17B10 300438 Hyperreflexia hyperreflexic; deep tendon reflexes abnormal neurologic 12555940 14729408
HSPD1 605280 Hyperreflexia upper extremities; lower extremities neurologic 10677329 11898127
LRRK2 607060 Hyperreflexia neurologic 15732106
NAGS 237310 Hyperreflexia exaggerated; increased; deep tendon reflexes abnormal neurologic 9877039 12754705
NDUFS1 252010 Hyperreflexia clonus; deep tendon reflexes abnormal; hyperactive reflexes neurologic 11349233 15576045 15824269
NDUFS2 252010 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 11220739
NDUFS7 252010 Hyperreflexia increased; tendon reflexes abnormal neurologic 10360771
NDUFS8 252010 Hyperreflexia clonus; brisk; deep tendon reflexes abnormal neurologic 9837812
OTC 311250 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12647200
PANK2 234200 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 7503394 12510040 12811783 14639680 15465096 15812126 16450344
PANK2 607236 Hyperreflexia extremities; brisk; reflexes abnormal neurologic 14638969
PARK7 105500 Hyperreflexia brisk; deep tendon reflexes abnormal; upper extremities; lower extremities neurologic 16240358
PDHA1 312170 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15473177 16256390
PDHX 245349 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 15303005
PEO1 609286 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12163192
PINK1 605909 Hyperreflexia brisk reflexes neurologic 11254447 15349860 15349870 15505170 15955953 16009891 16401616
SDHA 252011 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 16361598
SLC25A13 603471 Hyperreflexia hyperactive; deep tendon reflexes neurologic 12512993 15805705
SLC25A15 238970 Hyperreflexia clonus; deep tendon reflexes abnormal neurologic 10369256 11355015 11552031
SLC25A16 275000 Hyperreflexia neurologic 2575220
SOD1 105400 Hyperreflexia brisk; exaggerated; upper limb reflexes abnormal neurologic 7624031 8907321 10430435 12480087 14759637 16423367
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
SUOX 272300 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 12368985 15952210 16140720
SURF1 220110 Hyperreflexia brisk; deep tendon reflexes abnormal neurologic 9837813 16225813
TIMM8A 304700 Hyperreflexia clonus; brisk; deep tendon reflexes abnormal neurologic 8841189 10878669 11405816 12805099

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