Term: Brisk reflexes
Accession: HP:0001348
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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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
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ADSL
adenylosuccinate lyase
IAGP
HPO
OMIM:103050
NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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COQ5
coenzyme Q5, methyltransferase
IAGP
HPO
OMIM:619028
NCBI chr12:120,503,279...120,529,158
Ensembl chr12:120,503,279...120,534,434
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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
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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
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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
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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
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CTSD
cathepsin D
IAGP
HPO
ORPHA:79264
NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573
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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
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DLAT
dihydrolipoamide S-acetyltransferase
IAGP
HPO
OMIM:245348
NCBI chr11:112,025,408...112,064,404
Ensembl chr11:112,025,033...112,064,404
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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
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ELN
elastin
IAGP
HPO
ORPHA:90348
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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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
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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
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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
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FBLN5
fibulin 5
IAGP
HPO
ORPHA:90348
NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987
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FTL
ferritin light chain
IAGP
HPO
ORPHA:157846
NCBI chr19:48,965,309...48,966,879
Ensembl chr19:48,965,309...48,966,879
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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
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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
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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
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GCH1
GTP cyclohydrolase 1
IAGP
HPO
ORPHA:98808
NCBI chr14:54,842,017...54,902,826
Ensembl chr14:54,842,008...54,902,826
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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
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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
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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
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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
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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
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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
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GRN
granulin precursor
IAGP
HPO
ORPHA:79264
NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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MSTN
myostatin
IAGP
HPO
OMIM:614160
NCBI chr 2:190,055,700...190,062,729
Ensembl chr 2:190,055,700...190,062,729
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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PITRM1
pitrilysin metallopeptidase 1
IAGP
HPO
OMIM:619405
NCBI chr10:3,137,727...3,172,841
Ensembl chr10:3,137,728...3,172,841
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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
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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
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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
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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
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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
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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
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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
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PRR12
proline rich 12
IAGP
HPO
OMIM:619539
NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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SLC52A3
solute carrier family 52 member 3
IAGP
HPO
OMIM:211530
NCBI chr20:760,080...780,033
Ensembl chr20:760,080...776,015
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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
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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
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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
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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
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SPAST
spastin
IAGP
HPO
ORPHA:100985
NCBI chr 2:32,063,556...32,157,637
Ensembl chr 2:32,063,556...32,157,637
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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
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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
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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
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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
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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
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TH
tyrosine hydroxylase
IAGP
HPO
ORPHA:101150
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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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
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TPP1
tripeptidyl peptidase 1
IAGP
HPO
ORPHA:79264
NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448
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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
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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
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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
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USH2A
usherin
IAGP
ClinVar Annotator: match by term: Brisk reflexes
ClinVar
PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 PMID:12112664 PMID:12525556 PMID:14970843 PMID:15025721 PMID:15325563 PMID:15326663 PMID:17405132 PMID:18641288 PMID:19881469 PMID:20145675 PMID:20301515 PMID:20507924 PMID:22135276 PMID:22581970 PMID:23924366 PMID:24033266 PMID:24088041 PMID:24160897 PMID:24607488 PMID:24944099 PMID:25097241 PMID:25404053 PMID:25649381 PMID:25741868 PMID:26629787 PMID:26633545 PMID:26872967 PMID:28041643 PMID:28492532 PMID:29953849 PMID:30718709 PMID:31836858 PMID:34906470 PMID:36011334 PMID:36909829 More...
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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
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
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
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
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
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all