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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Brisk reflexes
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Accession:HP:0001348 term browser browse the term
Definition:Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.
Synonyms:exact_synonym: Brisk deep tendon reflexes
 xref: UMLS:C2673700



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Brisk reflexes term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AASS aminoadipate-semialdehyde synthase IAGP HPO ORPHA:2203 NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308
JBrowse link
G ADSL adenylosuccinate lyase IAGP HPO OMIM:103050 NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
JBrowse link
G ALDH18A1 aldehyde dehydrogenase 18 family member A1 IAGP DNA:missense mutation;exon:2350C>T(p.H784Y)(human) HPO
RGD
PMID:18478038 OMIM:616603 ORPHA:90348, RGD:13439711 NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711
JBrowse link
G ALS2 alsin Rho guanine nucleotide exchange factor ALS2 IAGP HPO ORPHA:300605 NCBI chr 2:201,700,267...201,780,933
Ensembl chr 2:201,700,267...201,782,112
JBrowse link
G ANO10 anoctamin 10 IAGP HPO ORPHA:284289 NCBI chr 3:43,365,848...43,691,594
Ensembl chr 3:43,354,859...43,691,594
JBrowse link
G ATG5 autophagy related 5 IAGP HPO OMIM:617584 NCBI chr 6:106,184,476...106,325,760
Ensembl chr 6:106,045,423...106,325,791
JBrowse link
G ATP13A2 ATPase cation transporting 13A2 IAGP HPO OMIM:606693 NCBI chr 1:16,985,958...17,011,928
Ensembl chr 1:16,985,958...17,011,928
JBrowse link
G BCAT2 branched chain amino acid transaminase 2 IAGP HPO OMIM:618850 NCBI chr19:48,795,064...48,811,029
Ensembl chr19:48,795,062...48,811,029
JBrowse link
G BSCL2 BSCL2 lipid droplet biogenesis associated, seipin IAGP HPO ORPHA:363400 NCBI chr11:62,690,262...62,709,537
Ensembl chr11:62,689,289...62,709,845
JBrowse link
G CADM3 cell adhesion molecule 3 IAGP HPO OMIM:619519 NCBI chr 1:159,171,615...159,203,313
Ensembl chr 1:159,171,609...159,203,313
JBrowse link
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO ORPHA:314647 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
JBrowse link
G CDC40 cell division cycle 40 IAGP HPO OMIM:619302 NCBI chr 6:110,180,427...110,232,232
Ensembl chr 6:110,180,141...110,254,275
JBrowse link
G CHMP1A charged multivesicular body protein 1A IAGP HPO OMIM:614961 NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738
JBrowse link
G CLN3 CLN3 lysosomal/endosomal transmembrane protein, battenin IAGP HPO ORPHA:79264 NCBI chr16:28,466,653...28,492,082
Ensembl chr16:28,474,111...28,495,575
JBrowse link
G CLN5 CLN5 intracellular trafficking protein IAGP HPO ORPHA:79264 NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143
JBrowse link
G CLN6 CLN6 transmembrane ER protein IAGP HPO ORPHA:79264 NCBI chr15:68,206,992...68,257,211
Ensembl chr15:68,206,992...68,257,211
JBrowse link
G CLN8 CLN8 transmembrane ER and ERGIC protein IAGP HPO ORPHA:79264 NCBI chr 8:1,753,059...1,786,570
Ensembl chr 8:1,755,778...1,801,711
JBrowse link
G CNP 2',3'-cyclic nucleotide 3' phosphodiesterase IAGP HPO OMIM:619071 NCBI chr17:41,966,795...41,977,740
Ensembl chr17:41,966,763...41,977,740
JBrowse link
G COG5 component of oligomeric golgi complex 5 IAGP HPO ORPHA:263487 NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261
JBrowse link
G COQ5 coenzyme Q5, methyltransferase IAGP HPO OMIM:619028 NCBI chr12:120,503,279...120,529,158
Ensembl chr12:120,503,279...120,534,434
JBrowse link
G COQ8A coenzyme Q8A IAGP HPO ORPHA:139485 NCBI chr 1:226,940,294...226,987,544
Ensembl chr 1:226,940,286...226,987,544
JBrowse link
G COX10 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 IAGP HPO OMIM:619046 NCBI chr17:14,069,504...14,208,677
Ensembl chr17:14,069,490...14,231,736
JBrowse link
G COX11 cytochrome c oxidase copper chaperone COX11 IAGP HPO OMIM:620275 NCBI chr17:54,951,902...54,968,785
Ensembl chr17:54,951,902...54,968,703
JBrowse link
G COX5A cytochrome c oxidase subunit 5A IAGP HPO OMIM:619064 NCBI chr15:74,919,791...74,938,073
Ensembl chr15:74,919,791...74,938,083
JBrowse link
G CTSD cathepsin D IAGP HPO ORPHA:79264 NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
JBrowse link
G DARS1 aspartyl-tRNA synthetase 1 IAGP HPO OMIM:615281 NCBI chr 2:135,905,881...135,985,684
Ensembl chr 2:135,905,881...135,986,100
JBrowse link
G DLAT dihydrolipoamide S-acetyltransferase IAGP HPO OMIM:245348 NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404
JBrowse link
G DNAJC5 DnaJ heat shock protein family (Hsp40) member C5 IAGP HPO ORPHA:79264 NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031
JBrowse link
G ELN elastin IAGP HPO ORPHA:90348 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G ELOVL1 ELOVL fatty acid elongase 1 IAGP HPO OMIM:618527 NCBI chr 1:43,363,401...43,368,011
Ensembl chr 1:43,363,398...43,368,074
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO OMIM:610758 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G EXOSC9 exosome component 9 IAGP HPO OMIM:618065 NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021
JBrowse link
G FBLN5 fibulin 5 IAGP HPO ORPHA:90348 NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
JBrowse link
G FTL ferritin light chain IAGP HPO ORPHA:157846 NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
JBrowse link
G FUCA1 alpha-L-fucosidase 1 IAGP HPO OMIM:230000 NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290
JBrowse link
G FUS FUS RNA binding protein IAGP HPO ORPHA:300605 NCBI chr16:31,180,110...31,194,871
Ensembl chr16:31,180,138...31,196,963
JBrowse link
G GBA2 glucosylceramidase beta 2 IAGP HPO ORPHA:352641 NCBI chr 9:35,736,866...35,749,228
Ensembl chr 9:35,736,866...35,749,228
JBrowse link
G GCH1 GTP cyclohydrolase 1 IAGP HPO ORPHA:98808 NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
JBrowse link
G GDAP2 ganglioside induced differentiation associated protein 2 IAGP HPO OMIM:618369 NCBI chr 1:117,863,485...117,929,621
Ensembl chr 1:117,863,485...117,929,621
JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 IAGP HPO OMIM:619333 NCBI chr 5:154,887,411...154,938,211
Ensembl chr 5:154,887,411...154,938,211
JBrowse link
G GLE1 GLE1 RNA export mediator IAGP HPO OMIM:611890 NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874
JBrowse link
G GLYCTK glycerate kinase IAGP HPO OMIM:220120 NCBI chr 3:52,287,828...52,295,257
Ensembl chr 3:52,287,089...52,295,257
JBrowse link
G GNS glucosamine (N-acetyl)-6-sulfatase IAGP HPO OMIM:252940 NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431
JBrowse link
G GRM1 glutamate metabotropic receptor 1 IAGP HPO OMIM:617691 NCBI chr 6:146,027,707...146,437,601
Ensembl chr 6:146,027,646...146,437,601
JBrowse link
G GRN granulin precursor IAGP HPO ORPHA:79264 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G GTPBP2 GTP binding protein 2 IAGP HPO OMIM:617988 NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264
JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021
JBrowse link
G HARS1 histidyl-tRNA synthetase 1 IAGP HPO ORPHA:488333 NCBI chr 5:140,673,905...140,691,370
Ensembl chr 5:140,673,035...140,691,537
JBrowse link
G IER3IP1 immediate early response 3 interacting protein 1 IAGP HPO OMIM:614231 NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP HPO ORPHA:98808 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447
JBrowse link
G JAM2 junctional adhesion molecule 2 IAGP HPO OMIM:618824 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562
JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO OMIM:609446 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:620089 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LYRM7 LYR motif containing 7 IAGP HPO OMIM:615838 NCBI chr 5:131,170,944...131,205,428
Ensembl chr 5:131,170,944...131,205,428
JBrowse link
G MFSD8 major facilitator superfamily domain containing 8 IAGP HPO ORPHA:79264 NCBI chr 4:127,917,732...127,965,963
Ensembl chr 4:127,917,799...127,966,034
JBrowse link
G MMAA metabolism of cobalamin associated A IAGP HPO OMIM:251100 NCBI chr 4:145,619,385...145,660,033
Ensembl chr 4:145,599,042...145,660,033
JBrowse link
G MRPS25 mitochondrial ribosomal protein S25 IAGP HPO OMIM:619025 NCBI chr 3:15,042,251...15,065,315
Ensembl chr 3:15,009,611...15,065,339
JBrowse link
G MSTN myostatin IAGP HPO OMIM:614160 NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
JBrowse link
G MT-TL1 mitochondrially encoded tRNA-Leu (UUA/G) 1 IAGP HPO ORPHA:663 NCBI chr MT:3,230...3,304
Ensembl chr MT:3,230...3,304
JBrowse link
G MT-TL2 mitochondrially encoded tRNA-Leu (CUN) 2 IAGP HPO ORPHA:663 NCBI chr MT:12,266...12,336
Ensembl chr MT:12,266...12,336
JBrowse link
G MT-TN mitochondrially encoded tRNA-Asn (AAU/C) IAGP HPO OMIM:220110 ORPHA:663 NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729
JBrowse link
G MT-TS1 mitochondrially encoded tRNA-Ser (UCN) 1 IAGP HPO OMIM:220110 ORPHA:663 NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514
JBrowse link
G NDUFA4 NDUFA4 mitochondrial complex associated IAGP HPO OMIM:619065 NCBI chr 7:10,931,943...10,940,153
Ensembl chr 7:10,931,943...10,940,153
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP HPO OMIM:618222 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644
JBrowse link
G NFIX nuclear factor I X IAGP HPO OMIM:602535 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796
JBrowse link
G NR4A2 nuclear receptor subfamily 4 group A member 2 IAGP HPO ORPHA:98808 NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348
JBrowse link
G PAK3 p21 (RAC1) activated kinase 3 IAGP HPO OMIM:300558 NCBI chr  X:110,944,397...111,227,361
Ensembl chr  X:110,944,285...111,227,361
JBrowse link
G PARK7 Parkinsonism associated deglycase IAGP HPO OMIM:606324 NCBI chr 1:7,961,711...7,985,505
Ensembl chr 1:7,954,291...7,985,505
JBrowse link
G PDE8B phosphodiesterase 8B IAGP HPO OMIM:609161 NCBI chr 5:77,086,715...77,428,256
Ensembl chr 5:77,210,449...77,428,256
Ensembl chr 5:77,210,449...77,428,256
JBrowse link
G PEX16 peroxisomal biogenesis factor 16 IAGP HPO OMIM:614877 NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812
JBrowse link
G PEX19 peroxisomal biogenesis factor 19 IAGP HPO OMIM:614886 NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO OMIM:300868 OMIM:301072 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G PITRM1 pitrilysin metallopeptidase 1 IAGP HPO OMIM:619405 NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
JBrowse link
G PKDCC protein kinase domain containing, cytoplasmic IAGP HPO OMIM:618821 NCBI chr 2:42,048,021...42,058,517
Ensembl chr 2:42,048,021...42,058,517
JBrowse link
G PLA2G6 phospholipase A2 group VI IAGP HPO OMIM:612953 NCBI chr22:38,111,495...38,181,830
Ensembl chr22:38,111,495...38,214,778
JBrowse link
G PMPCA peptidase, mitochondrial processing subunit alpha IAGP HPO ORPHA:1170 NCBI chr 9:136,410,658...136,423,761
Ensembl chr 9:136,410,630...136,427,992
JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO ORPHA:314647 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PPIL1 peptidylprolyl isomerase like 1 IAGP HPO OMIM:619301 NCBI chr 6:36,854,829...36,874,803
Ensembl chr 6:36,854,827...36,874,803
JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO OMIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
JBrowse link
G PPT1 palmitoyl-protein thioesterase 1 IAGP HPO ORPHA:79264 NCBI chr 1:40,071,461...40,097,252
Ensembl chr 1:40,072,710...40,097,260
JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
JBrowse link
G REEP1 receptor accessory protein 1 IAGP HPO ORPHA:101011 NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083
JBrowse link
G REPS1 RALBP1 associated Eps domain containing 1 IAGP HPO OMIM:617916 NCBI chr 6:138,903,493...138,988,253
Ensembl chr 6:138,903,493...138,988,261
JBrowse link
G RNASEH1 ribonuclease H1 IAGP HPO OMIM:616479 NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333
JBrowse link
G RNF170 ring finger protein 170 IAGP HPO OMIM:619686 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO OMIM:619317 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO OMIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400
JBrowse link
G SIGMAR1 sigma non-opioid intracellular receptor 1 IAGP HPO ORPHA:300605 NCBI chr 9:34,634,722...34,637,787
Ensembl chr 9:34,634,722...34,637,844
JBrowse link
G SLC16A2 solute carrier family 16 member 2 IAGP HPO ORPHA:59 NCBI chr  X:74,421,493...74,533,916
Ensembl chr  X:74,421,493...74,533,917
JBrowse link
G SLC1A4 solute carrier family 1 member 4 IAGP HPO OMIM:616657 NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865
JBrowse link
G SLC39A14 solute carrier family 39 member 14 IAGP HPO OMIM:617013 NCBI chr 8:22,367,278...22,434,129
Ensembl chr 8:22,367,278...22,434,129
JBrowse link
G SLC52A3 solute carrier family 52 member 3 IAGP HPO OMIM:211530 NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
JBrowse link
G SLC6A5 solute carrier family 6 member 5 IAGP HPO OMIM:614618 NCBI chr11:20,599,608...20,659,285
Ensembl chr11:20,599,594...20,659,285
JBrowse link
G SLC9A7 solute carrier family 9 member A7 IAGP HPO OMIM:301024 NCBI chr  X:46,599,251...46,759,118
Ensembl chr  X:46,599,251...46,759,118
JBrowse link
G SMC5 structural maintenance of chromosomes 5 IAGP HPO OMIM:620185 NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873
JBrowse link
G SMG9 SMG9 nonsense mediated mRNA decay factor IAGP HPO OMIM:619995 NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962
JBrowse link
G SPAST spastin IAGP HPO ORPHA:100985 NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
JBrowse link
G SPG11 SPG11 vesicle trafficking associated, spatacsin IAGP HPO ORPHA:300605 NCBI chr15:44,562,696...44,663,662
Ensembl chr15:44,554,818...44,663,688
JBrowse link
G SPTBN1 spectrin beta, non-erythrocytic 1 IAGP HPO OMIM:619475 NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446
JBrowse link
G SPTLC1 serine palmitoyltransferase long chain base subunit 1 IAGP HPO ORPHA:300605 NCBI chr 9:92,031,147...92,115,413
Ensembl chr 9:92,000,087...92,115,413
JBrowse link
G SURF1 SURF1 cytochrome c oxidase assembly factor IAGP HPO OMIM:220110 NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676
JBrowse link
G TBCD tubulin folding cofactor D IAGP HPO OMIM:617193 NCBI chr17:82,752,065...82,945,914
Ensembl chr17:82,752,042...82,945,914
JBrowse link
G TH tyrosine hydroxylase IAGP HPO ORPHA:101150 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
JBrowse link
G TMEM106B transmembrane protein 106B IAGP HPO OMIM:617964 NCBI chr 7:12,211,294...12,243,367
Ensembl chr 7:12,211,270...12,243,367
JBrowse link
G TPP1 tripeptidyl peptidase 1 IAGP HPO ORPHA:79264 NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
JBrowse link
G TSPOAP1 TSPO associated protein 1 IAGP HPO ORPHA:101150 NCBI chr17:58,301,231...58,328,795
Ensembl chr17:58,301,228...58,328,795
JBrowse link
G TUBGCP2 tubulin gamma complex component 2 IAGP HPO OMIM:618737 NCBI chr10:133,278,635...133,312,337
Ensembl chr10:133,278,635...133,318,823
JBrowse link
G USH2A usherin IAGP ClinVar Annotator: match by term: Brisk reflexes ClinVar PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More... NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
JBrowse link
G USH2A-AS2 USH2A antisense RNA 2 IAGP ClinVar Annotator: match by term: Brisk reflexes ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917
JBrowse link
G VCP valosin containing protein IAGP HPO OMIM:613954 NCBI chr 9:35,056,064...35,072,625
Ensembl chr 9:35,053,928...35,072,668
JBrowse link
G VRK1 VRK serine/threonine kinase 1 IAGP HPO OMIM:607596 NCBI chr14:96,797,382...96,881,609
Ensembl chr14:96,797,304...96,954,846
JBrowse link
G WDR4 WD repeat domain 4 IAGP HPO OMIM:618346 NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568
JBrowse link
G WDR62 WD repeat domain 62 IAGP HPO OMIM:604317 NCBI chr19:36,054,897...36,111,145
Ensembl chr19:36,054,649...36,105,108
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  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of the nervous system 15611
        Abnormal nervous system physiology 14502
          Abnormality of movement 2284
            Abnormal reflex 1256
              Hyperreflexia 832
                Brisk reflexes 115
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