MAMMALIAN PHENOTYPE - ANNOTATIONS
The Mouse Adult Gross Anatomy Ontology and Mammalian Phenotype Ontology are downloaded weekly from the Mouse Genome Informatics databases at Jackson Laboratories (ftp://ftp.informatics.jax.org/pub/reports/index.html). For more information about these ontologies, see the MGI Publications Page at http://www.informatics.jax.org/mgihome/other/publications.shtml.
Term: Purkinje cell degeneration
Accession: MP:0000876
browse the term
Definition: a retrogressive impairment of function or destruction of the large neurons located at the interface of the molecular and internal granule layers of the cerebellar cortex
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Aars1
alanyl-tRNA synthetase 1
IAGP
MGI
PMID:16906134 PMID:25422440 PMID:29769718
NCBI chr 8:111,759,781...111,784,237
Ensembl chr 8:111,759,776...111,784,296
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Abcd2
ATP-binding cassette, sub-family D member 2
IAGP
MGI
PMID:16223892
NCBI chr15:91,029,874...91,076,013
Ensembl chr15:91,030,074...91,076,002
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Acbd5
acyl-Coenzyme A binding domain containing 5
IAGP
MGI
PMID:33244184
NCBI chr 2:22,958,189...23,004,525
Ensembl chr 2:22,958,179...23,005,570
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Acer3
alkaline ceramidase 3
IAGP
MGI
PMID:26474409
NCBI chr 7:97,863,015...97,970,415
Ensembl chr 7:97,855,596...97,970,415
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Aff1
AF4/FMR2 family, member 1
IAGP
MGI
PMID:12629167
NCBI chr 5:103,840,307...104,003,188
Ensembl chr 5:103,840,240...104,003,188
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Afg3l2
AFG3-like AAA ATPase 2
IAGP
MGI
PMID:19625515 PMID:23041622
NCBI chr18:67,537,830...67,582,277
Ensembl chr18:67,537,834...67,582,242
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Aga
aspartylglucosaminidase
IAGP
MGI
PMID:9777961
NCBI chr 8:53,964,718...53,976,457
Ensembl chr 8:53,964,762...53,976,456
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Agtpbp1
ATP/GTP binding protein 1
IAGP
MGI
PMID:1061118 PMID:2726749 PMID:11884758 PMID:16465590
NCBI chr13:59,597,348...59,705,184
Ensembl chr13:59,593,556...59,733,041
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Aifm1
apoptosis-inducing factor, mitochondrion-associated 1
IAGP
MGI
PMID:12353028
NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440
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Ank1
ankyrin 1, erythroid
IAGP
MGI
PMID:1716634
NCBI chr 8:23,464,852...23,640,517
Ensembl chr 8:23,464,860...23,640,513
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Ank3
ankyrin 3, epithelial
IAGP
MGI
PMID:9832557
NCBI chr10:69,234,608...69,863,266
Ensembl chr10:69,234,603...69,863,268
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Ankfy1
ankyrin repeat and FYVE domain containing 1
IAGP
MGI
PMID:28588446
NCBI chr11:72,580,828...72,662,972
Ensembl chr11:72,580,832...72,662,972
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Ankrd16
ankyrin repeat domain 16
IAGP
MGI
PMID:29769718
NCBI chr 2:11,781,902...11,795,138
Ensembl chr 2:11,782,687...11,795,140
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App
amyloid beta precursor protein
IAGP
MGI
PMID:21303697
NCBI chr16:84,751,236...84,972,187
Ensembl chr16:84,746,573...84,970,654
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Arcn1
archain 1
IAGP
MGI
PMID:20502676
NCBI chr 9:44,653,440...44,679,105
Ensembl chr 9:44,652,861...44,679,142
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Arsa
arylsulfatase A
IAGP
MGI
PMID:8962139 PMID:9728336 PMID:10505624
NCBI chr15:89,356,679...89,361,627
Ensembl chr15:89,356,679...89,361,628
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Atg4d
autophagy related 4D, cysteine peptidase
IAGP
MGI
PMID:33795848
NCBI chr 9:21,176,496...21,186,133
Ensembl chr 9:21,176,589...21,189,068
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Atg5
autophagy related 5
IAGP
MGI
PMID:16625204
NCBI chr10:44,144,325...44,240,295
Ensembl chr10:44,144,354...44,240,287
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Atg7
autophagy related 7
IAGP
MGI
PMID:23152632 PMID:33082312
NCBI chr 6:114,620,075...114,837,565
Ensembl chr 6:114,620,058...114,837,575
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Atm
ataxia telangiectasia mutated
IAGP
MGI
PMID:9356511
NCBI chr 9:53,348,422...53,448,125
Ensembl chr 9:53,350,449...53,448,040
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Atxn3
ataxin 3
IAGP
MGI
PMID:25301414
NCBI chr12:101,885,160...101,928,139
Ensembl chr12:101,885,160...101,924,505
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Atxn7
ataxin 7
IAGP
MGI
PMID:22002997
NCBI chr14:8,358,358...8,508,324
Ensembl chr14:8,362,461...8,508,323
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B4galnt1
beta-1,4-N-acetyl-galactosaminyl transferase 1
IAGP
MGI
PMID:10021458
NCBI chr10:127,001,025...127,008,209
Ensembl chr10:127,001,094...127,008,199
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
IAGP
MGI
PMID:21870131 PMID:22279216 PMID:23054835 PMID:26730403
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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Cacna1g
calcium channel, voltage-dependent, T type, alpha 1G subunit
IAGP
MGI
PMID:31229688
NCBI chr11:94,299,217...94,365,226
Ensembl chr11:94,299,217...94,365,024
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Cacna2d2
calcium channel, voltage-dependent, alpha 2/delta subunit 2
IAGP
MGI
PMID:4177347 PMID:15331424
NCBI chr 9:107,276,948...107,406,545
Ensembl chr 9:107,276,811...107,406,542
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Camta1
calmodulin binding transcription activator 1
IAGP
MGI
PMID:25049392
NCBI chr 4:151,143,980...151,946,225
Ensembl chr 4:151,143,982...151,946,333
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Cers1
ceramide synthase 1
IAGP
MGI
PMID:15248193 PMID:21625621 PMID:23074226
NCBI chr 8:70,768,425...70,784,238
Ensembl chr 8:70,768,425...70,784,242
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Chp1
calcineurin-like EF hand protein 1
IAGP
MGI
PMID:23904602
NCBI chr 2:119,378,172...119,417,505
Ensembl chr 2:119,378,178...119,417,508
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Clcn7
chloride channel, voltage-sensitive 7
IAGP
MGI
PMID:24185277
NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078
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Clec16a
C-type lectin domain family 16, member A
IAGP
MGI
PMID:26987296
NCBI chr16:10,363,173...10,562,742
Ensembl chr16:10,363,203...10,562,742
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Coq8a
coenzyme Q8A
IAGP
MGI
PMID:27499294
NCBI chr 1:179,992,803...180,023,585
Ensembl chr 1:179,992,803...180,027,167
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Ctsb
cathepsin B
IAGP
MGI
PMID:12048238 PMID:23054835
NCBI chr14:63,359,911...63,383,372
Ensembl chr14:63,359,911...63,383,372
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Ctsl
cathepsin L
IAGP
MGI
PMID:12048238
NCBI chr13:64,509,704...64,518,586
Ensembl chr13:64,507,151...64,518,704
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Ddit3
DNA-damage inducible transcript 3
IAGP
MGI
PMID:19801575
NCBI chr10:127,126,662...127,132,160
Ensembl chr10:127,126,643...127,132,157 Ensembl chr10:127,126,643...127,132,157
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Dnajc3
DnaJ heat shock protein family (Hsp40) member C3
IAGP
MGI
PMID:19801575
NCBI chr14:119,175,371...119,219,114
Ensembl chr14:119,175,388...119,219,109
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Edaradd
EDAR associated via death domain
IAGP
MGI
PMID:896803
NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
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Eef1a2
eukaryotic translation elongation factor 1 alpha 2
IAGP
MGI
PMID:7078649
NCBI chr 2:180,783,551...180,798,808
Ensembl chr 2:180,789,446...180,798,807
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Elp2
elongator acetyltransferase complex subunit 2
IAGP
MGI
PMID:33976153
NCBI chr18:24,737,018...24,771,887
Ensembl chr18:24,735,923...24,772,564
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En1
engrailed 1
IAGP
MGI
PMID:17693261 PMID:23152632 PMID:29769718
NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721
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Epm2a
epilepsy, progressive myoclonic epilepsy, type 2 gene alpha
IAGP
MGI
PMID:12019206
NCBI chr10:11,218,435...11,335,408
Ensembl chr10:11,219,148...11,335,388
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Ercc2
excision repair cross-complementing rodent repair deficiency, complementation group 2
IAGP
MGI
PMID:16904611
NCBI chr 7:19,115,942...19,129,619
Ensembl chr 7:19,115,935...19,129,619
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Ercc6
excision repair cross-complementing rodent repair deficiency, complementation group 6
IAGP
MGI
PMID:22174697
NCBI chr14:32,235,248...32,302,947
Ensembl chr14:32,235,478...32,302,947
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Fuca1
fucosidase, alpha-L- 1, tissue
IAGP
MGI
PMID:27491075
NCBI chr 4:135,648,037...135,667,611
Ensembl chr 4:135,648,046...135,667,622
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Gjc2
gap junction protein, gamma 2
IAGP
MGI
PMID:21750683
NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039
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Glb1
galactosidase, beta 1
IAGP
MGI
PMID:9337086 PMID:11578847
NCBI chr 9:114,230,146...114,303,447
Ensembl chr 9:114,230,144...114,303,966
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Gmppa
GDP-mannose pyrophosphorylase A
IAGP
MGI
PMID:33755596
NCBI chr 1:75,412,555...75,419,823
Ensembl chr 1:75,412,574...75,419,823
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Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
IAGP
MGI
PMID:25107912
NCBI chr10:88,215,130...88,283,186
Ensembl chr10:88,214,994...88,283,191
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Golga2
golgin A2
IAGP
MGI
PMID:28028212
NCBI chr 2:32,178,299...32,197,925
Ensembl chr 2:32,177,396...32,197,933
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Grid2
glutamate receptor, ionotropic, delta 2
IAGP
MGI
PMID:9065501 PMID:9271665 PMID:12628171 PMID:22279216
NCBI chr 6:63,230,118...64,681,305
Ensembl chr 6:63,232,860...64,681,307
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:21871565
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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Herc1
HECT and RLD domain containing E3 ubiquitin protein ligase family member 1
IAGP
MGI
PMID:7891151
NCBI chr 9:66,257,694...66,416,057
Ensembl chr 9:66,257,732...66,416,057
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Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
MGI
PMID:27528230
NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
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Hexb
hexosaminidase B
IAGP
MGI
PMID:10021458 PMID:14722612
NCBI chr13:97,312,839...97,334,865
Ensembl chr13:97,312,839...97,334,865
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Hgs
HGF-regulated tyrosine kinase substrate
IAGP
MGI
PMID:6024256
NCBI chr11:120,358,431...120,374,810
Ensembl chr11:120,358,461...120,374,805
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Hsd17b4
hydroxysteroid (17-beta) dehydrogenase 4
IAGP
MGI
PMID:23777740
NCBI chr18:50,261,268...50,329,337
Ensembl chr18:50,261,268...50,329,336
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Hyou1
hypoxia up-regulated 1
IAGP
MGI
PMID:19801575
NCBI chr 9:44,290,840...44,303,662
Ensembl chr 9:44,290,787...44,303,666
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Idua
iduronidase, alpha-L
IAGP
MGI
PMID:9660052
NCBI chr 5:108,808,197...108,833,312
Ensembl chr 5:108,808,197...108,832,423
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Inpp4a
inositol polyphosphate-4-phosphatase, type I
IAGP
MGI
PMID:11683991
NCBI chr 1:37,338,908...37,449,821
Ensembl chr 1:37,338,946...37,449,817
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Inpp5a
inositol polyphosphate-5-phosphatase A
IAGP
MGI
PMID:26051944
NCBI chr 7:138,969,025...139,159,568
Ensembl chr 7:138,969,025...139,159,568
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Ireb2
iron responsive element binding protein 2
IAGP
MGI
PMID:11175792
NCBI chr 9:54,769,942...54,819,812
Ensembl chr 9:54,771,073...54,819,814
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Kat2a
K(lysine) acetyltransferase 2A
IAGP
MGI
PMID:22002997
NCBI chr11:100,595,572...100,603,293
Ensembl chr11:100,595,572...100,603,291
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Kl
klotho
IAGP
MGI
PMID:9363890
NCBI chr 5:150,876,072...150,917,282
Ensembl chr 5:150,876,072...150,917,282
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Map1a
microtubule-associated protein 1 A
IAGP
MGI
PMID:25788676
NCBI chr 2:121,119,608...121,141,313
Ensembl chr 2:121,120,081...121,141,313
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Marveld1
MARVEL (membrane-associating) domain containing 1
IAGP
MGI
PMID:30250269
NCBI chr19:42,135,879...42,140,137
Ensembl chr19:42,135,839...42,140,142
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Matr3
matrin 3
IAGP
MGI
PMID:33082323
NCBI chr18:35,686,462...35,724,526
Ensembl chr18:35,695,191...35,726,888
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Mfn1
mitofusin 1
IAGP
MGI
PMID:17693261
NCBI chr 3:32,583,594...32,633,384
Ensembl chr 3:32,583,614...32,633,388
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Mfn2
mitofusin 2
IAGP
MGI
PMID:17693261
NCBI chr 4:147,958,043...147,989,527
Ensembl chr 4:147,958,056...147,989,161
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Mtcl1
microtubule crosslinking factor 1
IAGP
MGI
PMID:28283581
NCBI chr17:66,643,975...66,760,672
Ensembl chr17:66,643,977...66,756,745
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Naglu
alpha-N-acetylglucosaminidase (Sanfilippo disease IIIB)
IAGP
MGI
PMID:17712420
NCBI chr11:100,960,918...100,968,483
Ensembl chr11:100,960,838...100,968,498
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Ndufa1
NADH:ubiquinone oxidoreductase subunit A1
IAGP
MGI
PMID:28506826
NCBI chr X:36,451,241...36,454,891
Ensembl chr X:36,451,241...36,454,816
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Ndufs4
NADH:ubiquinone oxidoreductase core subunit S4
IAGP
MGI
PMID:20534480
NCBI chr13:114,424,331...114,524,630
Ensembl chr13:114,424,331...114,524,794
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Npc1
NPC intracellular cholesterol transporter 1
IAGP
MGI
PMID:11504598 PMID:12528192 PMID:12692847 PMID:15071184 PMID:20007718 PMID:21303697 PMID:21856732 PMID:22048958 PMID:22869680 PMID:26019327 More...
NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457
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Npc2
NPC intracellular cholesterol transporter 2
IAGP
MGI
PMID:15071184
NCBI chr12:84,801,333...84,819,886
Ensembl chr12:84,801,336...84,819,926
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Pdss2
prenyl (solanesyl) diphosphate synthase, subunit 2
IAGP
MGI
PMID:21871565
NCBI chr10:43,095,396...43,340,878
Ensembl chr10:43,097,482...43,340,878
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Ppt1
palmitoyl-protein thioesterase 1
IAGP
MGI
PMID:11717424
NCBI chr 4:122,729,879...122,752,968
Ensembl chr 4:122,730,035...122,752,968
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Prnp
prion protein
IAGP
MGI
PMID:8606772 PMID:19666958
NCBI chr 2:131,751,848...131,780,356
Ensembl chr 2:131,751,848...131,780,349
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Psap
prosaposin
IAGP
MGI
PMID:15345707 PMID:17353235 PMID:20175216
NCBI chr10:60,113,436...60,138,379
Ensembl chr10:60,113,449...60,138,376
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Psmf1
proteasome (prosome, macropain) inhibitor subunit 1
IAGP
MGI
PMID:31754024
NCBI chr 2:151,557,982...151,586,114
Ensembl chr 2:151,557,732...151,586,106
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Pten
phosphatase and tensin homolog
IAGP
MGI
PMID:12091320
NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560
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Qki
quaking, KH domain containing RNA binding
IAGP
MGI
PMID:16245024
NCBI chr17:10,425,480...10,538,706
Ensembl chr17:10,421,530...10,538,783
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Reln
reelin
IAGP
MGI
PMID:10876649
NCBI chr 5:22,089,452...22,549,703
Ensembl chr 5:22,089,452...22,549,700
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Rora
RAR-related orphan receptor alpha
IAGP
MGI
PMID:9520475
NCBI chr 9:68,560,627...69,295,528
Ensembl chr 9:68,561,068...69,295,528
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Rreb1
ras responsive element binding protein 1
IAGP
MGI
PMID:38198538
NCBI chr13:37,962,362...38,135,981
Ensembl chr13:37,962,376...38,135,981
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Sacs
sacsin
IAGP
MGI
PMID:22307627 PMID:25260547
NCBI chr14:61,375,870...61,478,142
Ensembl chr14:61,375,906...61,478,144
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
IEA
MGI
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Sil1
SIL1 nucleotide exchange factor
IAGP
MGI
PMID:16116427 PMID:19801575
NCBI chr18:35,399,449...35,632,443
Ensembl chr18:35,399,449...35,632,833
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Slc9a1
solute carrier family 9 (sodium/hydrogen exchanger), member 1
IAGP
MGI
PMID:23904602
NCBI chr 4:133,097,022...133,151,013
Ensembl chr 4:133,097,017...133,151,013
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Slc9a6
solute carrier family 9 (sodium/hydrogen exchanger), member 6
IAGP
MGI
PMID:21964919 PMID:26515654 PMID:29349289
NCBI chr X:55,654,921...55,709,590
Ensembl chr X:55,655,117...55,709,590
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Smpd1
sphingomyelin phosphodiesterase 1, acid lysosomal
IAGP
MGI
PMID:7600574 PMID:7670466
NCBI chr 7:105,203,567...105,207,596
Ensembl chr 7:105,203,567...105,207,596
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Spg11
SPG11, spatacsin vesicle trafficking associated
IAGP
MGI
PMID:26284655
NCBI chr 2:121,884,001...121,949,915
Ensembl chr 2:121,884,001...121,948,867
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Sptbn2
spectrin beta, non-erythrocytic 2
IAGP
MGI
PMID:20371805
NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388
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Srrm3
serine/arginine repetitive matrix 3
IAGP
MGI
PMID:30995482
NCBI chr 5:135,835,693...135,903,627
Ensembl chr 5:135,835,744...135,903,626
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Stard9
StAR related lipid transfer domain containing 9
IAGP
MGI
PMID:36861884
NCBI chr 2:120,459,567...120,562,371
Ensembl chr 2:120,459,602...120,562,376
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Stub1
STIP1 homology and U-Box containing protein 1
IAGP
MGI
PMID:24113144
NCBI chr17:26,049,608...26,051,893
Ensembl chr17:26,049,479...26,052,378
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Taco1
translational activator of mitochondrially encoded cytochrome c oxidase I
IAGP
MGI
PMID:27319982
NCBI chr11:105,956,885...105,964,861
Ensembl chr11:105,956,887...105,964,438
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Tbp
TATA box binding protein
IAGP
MGI
PMID:24462098
NCBI chr17:15,720,150...15,737,689
Ensembl chr17:15,720,150...15,748,641
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Tpp1
tripeptidyl peptidase I
IAGP
MGI
PMID:15483130
NCBI chr 7:105,394,018...105,401,489
Ensembl chr 7:105,394,018...105,401,442
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Tsc2
TSC complex subunit 2
IAGP
MGI
PMID:21419848
NCBI chr17:24,814,788...24,851,607
Ensembl chr17:24,814,790...24,851,604
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Ube4b
ubiquitination factor E4B
IAGP
MGI
PMID:16314518
NCBI chr 4:149,412,873...149,512,618
Ensembl chr 4:149,412,873...149,511,206
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Ugcg
UDP-glucose ceramide glucosyltransferase
IAGP
MGI
PMID:16283624
NCBI chr 4:59,189,452...59,222,833
Ensembl chr 4:59,189,257...59,222,833
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Usp14
ubiquitin specific peptidase 14
IAGP
MGI
PMID:5855800
NCBI chr18:9,993,615...10,030,149
Ensembl chr18:9,993,066...10,045,119
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Vim
vimentin
IAGP
MGI
PMID:9888296
NCBI chr 2:13,579,122...13,587,637
Ensembl chr 2:13,578,738...13,587,637
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Wdr45b
WD repeat domain 45B
IAGP
MGI
PMID:33082312
NCBI chr11:121,218,029...121,246,393
Ensembl chr11:121,218,050...121,245,271
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Wwox
WW domain-containing oxidoreductase
IAGP
MGI
PMID:36828035
NCBI chr 8:115,166,377...116,079,451
Ensembl chr 8:115,166,395...116,079,447
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Xpa
xeroderma pigmentosum, complementation group A
IAGP
MGI
PMID:16904611 PMID:22174697
NCBI chr 4:46,175,222...46,196,317
Ensembl chr 4:46,155,347...46,196,311
G
Zfp212
Zinc finger protein 212
IAGP
MGI
PMID:34815492
NCBI chr 6:47,897,502...47,909,573
Ensembl chr 6:47,897,410...47,909,573
G
Zfyve26
zinc finger, FYVE domain containing 26
IAGP
MGI
PMID:24367272
NCBI chr12:79,279,120...79,343,102
Ensembl chr12:79,279,120...79,343,078
G
Gnptab
N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
IAGP
MGI
PMID:25107912
NCBI chr10:88,215,130...88,283,186
Ensembl chr10:88,214,994...88,283,191
G
Herc2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
MGI
PMID:27528230
NCBI chr 7:55,699,872...55,884,373
Ensembl chr 7:55,699,944...55,881,548
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all