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: abnormal primitive streak formation
Accession: MP:0002230
browse the term
Definition: anomaly in the establishment of the midline ridge of embryonic epiblast that later develops into mesoderm and endoderm
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Acvr1
activin A receptor, type 1
IAGP
MGI
PMID:10226013 PMID:10479450
NCBI chr 2:58,336,450...58,456,840
Ensembl chr 2:58,278,656...58,457,169
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Acvr1b
activin A receptor, type 1B
IAGP
MGI
PMID:16564040
NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
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Amn
amnionless
IAGP
MGI
PMID:9851841
NCBI chr12:111,237,530...111,242,860
Ensembl chr12:111,237,529...111,242,860
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Bptf
bromodomain PHD finger transcription factor
IAGP
MGI
PMID:18794365
NCBI chr11:106,923,907...107,022,982
Ensembl chr11:106,923,907...107,022,953
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Brca1
breast cancer 1, early onset
IAGP
MGI
PMID:9872327
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Cer1
cerberus 1, DAN family BMP antagonist
IAGP
MGI
PMID:12431380
NCBI chr 4:82,799,988...82,803,388
Ensembl chr 4:82,799,988...82,803,385
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Cripto
cripto, EGF-CFC family member
IAGP
MGI
PMID:18268105
NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
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Ddx6
DEAD-box helicase 6
IAGP
MGI
PMID:36197846
NCBI chr 9:44,514,113...44,552,028
Ensembl chr 9:44,516,189...44,552,028
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Dhx9
DExH-box helicase 9
IAGP
MGI
PMID:9811865
NCBI chr 1:153,331,506...153,363,464
Ensembl chr 1:153,331,504...153,363,406
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Drap1
DR1 associated protein 1
IAGP
MGI
PMID:12471260
NCBI chr19:5,472,832...5,475,007
Ensembl chr19:5,472,833...5,475,007
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Foxa2
forkhead box A2
IAGP
MGI
PMID:8069909 PMID:11291865
NCBI chr 2:147,884,797...147,888,889
Ensembl chr 2:147,884,797...147,888,889
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Furin
furin, paired basic amino acid cleaving enzyme
IAGP
MGI
PMID:12447384
NCBI chr 7:80,038,942...80,055,188
Ensembl chr 7:80,038,333...80,055,184
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Gdf1
growth differentiation factor 1
IAGP
MGI
PMID:16564040 PMID:17936261
NCBI chr 8:70,768,425...70,784,242
Ensembl chr 8:70,768,425...70,784,242 Ensembl chr 8:70,768,425...70,784,242
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Gdf3
growth differentiation factor 3
IAGP
MGI
PMID:16368929 PMID:17936261
NCBI chr 6:122,582,362...122,587,046
Ensembl chr 6:122,582,362...122,587,046
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Hnf4a
hepatic nuclear factor 4, alpha
IAGP
MGI
PMID:7958910
NCBI chr 2:163,348,731...163,414,827
Ensembl chr 2:163,348,728...163,414,830
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Ldb1
LIM domain binding 1
IAGP
MGI
PMID:12490556
NCBI chr19:46,019,963...46,036,584
Ensembl chr19:46,020,009...46,033,653
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Lefty1
left right determination factor 1
IAGP
MGI
PMID:12431380
NCBI chr 1:180,762,587...180,765,966
Ensembl chr 1:180,762,587...180,765,965
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Lhx1
LIM homeobox protein 1
IAGP
MGI
PMID:11291865
NCBI chr11:84,408,801...84,416,360
Ensembl chr11:84,409,110...84,416,361
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Lrp5
low density lipoprotein receptor-related protein 5
IAGP
MGI
PMID:15142971
NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564
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Lrp6
low density lipoprotein receptor-related protein 6
IAGP
MGI
PMID:15142971
NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
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Mesp1
mesoderm posterior 1
IAGP
MGI
PMID:10887078
NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536
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Mesp2
mesoderm posterior 2
IAGP
MGI
PMID:10887078
NCBI chr 7:79,460,475...79,463,179
Ensembl chr 7:79,460,475...79,463,187
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Nckap1
NCK-associated protein 1
IAGP
MGI
PMID:16831833
NCBI chr 2:80,330,856...80,411,526
Ensembl chr 2:80,330,856...80,411,724
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Nodal
nodal growth differentiation factor
IAGP
MGI
PMID:12471260 PMID:16950123
NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
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Nog
noggin
IAGP
MGI
PMID:20508035
NCBI chr11:89,191,464...89,193,385
Ensembl chr11:89,191,464...89,193,158
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Otx2
orthodenticle homeobox 2
IAGP
MGI
PMID:8565836 PMID:11291865
NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276
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Pcsk6
proprotein convertase subtilisin/kexin type 6
IAGP
MGI
PMID:12447384
NCBI chr 7:65,511,884...65,700,134
Ensembl chr 7:65,511,482...65,700,134
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Rac1
Rac family small GTPase 1
IAGP
MGI
PMID:20689803
NCBI chr 5:143,491,236...143,513,786
Ensembl chr 5:143,489,389...143,513,791
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Rps6ka6
ribosomal protein S6 kinase polypeptide 6
IEA
MGI
NCBI chr X:110,297,534...110,447,794
Ensembl chr X:110,297,889...110,447,656
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Smad3
SMAD family member 3
IAGP
MGI
PMID:20508035
NCBI chr 9:63,554,048...63,665,276
Ensembl chr 9:63,554,049...63,665,276
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T
brachyury, T-box transcription factor T
IAGP
MGI
PMID:8293872 PMID:12140191
NCBI chr17:8,653,255...8,661,328
Ensembl chr17:8,653,255...8,661,328
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Tcf7l1
transcription factor 7 like 1 (T cell specific, HMG box)
IAGP
MGI
PMID:14668413
NCBI chr 6:72,603,354...72,766,028
Ensembl chr 6:72,603,361...72,766,237
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Tlx2
T cell leukemia, homeobox 2
IAGP
MGI
PMID:9550720
NCBI chr 6:83,045,306...83,047,206
Ensembl chr 6:83,045,305...83,047,274
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Tpt1
tumor protein, translationally-controlled 1
IAGP
MGI
PMID:17475776
NCBI chr14:76,082,771...76,085,743
Ensembl chr14:76,082,533...76,085,965
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Uba1
ubiquitin-like modifier activating enzyme 1
IAGP
MGI
PMID:35440748
NCBI chr X:20,524,660...20,549,420
Ensembl chr X:20,524,565...20,549,418
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Usp39
ubiquitin specific peptidase 39
IAGP
MGI
PMID:35440748
NCBI chr 6:72,295,749...72,322,190
Ensembl chr 6:72,295,661...72,322,167
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Wnt5a
wingless-type MMTV integration site family, member 5A
IAGP
MGI
PMID:10021340
NCBI chr14:28,224,962...28,249,405
Ensembl chr14:28,226,707...28,249,405
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Actr8
ARP8 actin-related protein 8
IEA
MGI
NCBI chr14:29,700,294...29,717,409
Ensembl chr14:29,700,294...29,728,311
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Acvr1b
activin A receptor, type 1B
IAGP
MGI
PMID:9512518
NCBI chr15:101,071,953...101,111,565
Ensembl chr15:101,071,948...101,111,565
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Ap2s1
adaptor-related protein complex 2, sigma 1 subunit
IEA
MGI
NCBI chr 7:16,472,369...16,483,215
Ensembl chr 7:16,472,335...16,483,219
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Bcs1l
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone
IEA
MGI
NCBI chr 1:74,627,448...74,631,602
Ensembl chr 1:74,627,448...74,631,602
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Bmp4
bone morphogenetic protein 4
IAGP
MGI
PMID:7657163
NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
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Bmpr1a
bone morphogenetic protein receptor, type 1A
IAGP
MGI
PMID:8543149
NCBI chr14:34,133,018...34,225,335
Ensembl chr14:34,132,691...34,225,298
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Bmpr2
bone morphogenetic protein receptor type 2
IAGP
MGI
PMID:10772805
NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173
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Borcs6
BLOC-1 related complex subunit 6
IEA
MGI
NCBI chr11:68,950,601...68,952,402
Ensembl chr11:68,950,543...68,952,404
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Bptf
bromodomain PHD finger transcription factor
IAGP
MGI
PMID:18974875
NCBI chr11:106,923,907...107,022,982
Ensembl chr11:106,923,907...107,022,953
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Brca1
breast cancer 1, early onset
IAGP
MGI
PMID:8674108
NCBI chr11:101,379,587...101,442,808
Ensembl chr11:101,379,590...101,442,781
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Ccdc59
coiled-coil domain containing 59
IEA
MGI
NCBI chr10:105,677,340...105,683,371
Ensembl chr10:105,676,928...105,683,694
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Cenpo
centromere protein O
IEA
MGI
NCBI chr12:4,243,548...4,284,255
Ensembl chr12:4,246,004...4,284,294
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Chd8
chromodomain helicase DNA binding protein 8
IAGP
MGI
PMID:15367660
NCBI chr14:52,435,608...52,495,499
Ensembl chr14:52,435,608...52,495,237
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Clpx
caseinolytic mitochondrial matrix peptidase chaperone subunit
IEA
MGI
NCBI chr 9:65,201,533...65,237,940
Ensembl chr 9:65,201,542...65,237,940
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Cripto
cripto, EGF-CFC family member
IAGP
MGI
PMID:9790191
NCBI chr 9:110,768,676...110,775,226
Ensembl chr 9:110,768,671...110,775,226
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Cul4b
cullin 4B
IAGP
MGI
PMID:22453236
NCBI chr X:37,620,493...37,665,073
Ensembl chr X:37,622,151...37,665,073
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Ddx59
DEAD box helicase 59
IEA
MGI
NCBI chr 1:136,343,009...136,384,019
Ensembl chr 1:136,343,009...136,367,896
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Dolk
dolichol kinase
IEA
MGI
NCBI chr 2:30,174,241...30,176,366
Ensembl chr 2:30,174,243...30,176,346
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Dpy30
dpy-30, histone methyltransferase complex regulatory subunit
IAGP
MGI
PMID:25805847
NCBI chr17:74,606,469...74,630,939
Ensembl chr17:74,606,469...74,630,939
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Elof1
ELF1 homolog, elongation factor 1
IAGP
MGI
PMID:31276560
NCBI chr 9:22,024,282...22,028,491
Ensembl chr 9:22,024,285...22,028,468
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Eomes
eomesodermin
IAGP
MGI
PMID:18171685
NCBI chr 9:118,307,259...118,315,176
Ensembl chr 9:118,307,280...118,315,200
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Exosc1
exosome component 1
IAGP
MGI
PMID:37940010
NCBI chr19:41,911,417...41,921,836
Ensembl chr19:41,910,731...41,921,862
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Ext1
exostosin glycosyltransferase 1
IAGP
MGI
PMID:10926768
NCBI chr15:52,931,657...53,209,579
Ensembl chr15:52,927,434...53,209,555
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Ext2
exostosin glycosyltransferase 2
IAGP
MGI
PMID:16236767
NCBI chr 2:93,525,978...93,652,913
Ensembl chr 2:93,491,373...93,652,913
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Fastkd5
FAST kinase domains 5
IEA
MGI
NCBI chr 2:130,455,766...130,471,922
Ensembl chr 2:130,455,760...130,471,947
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Fgfr1
fibroblast growth factor receptor 1
IAGP
MGI
PMID:8001822
NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734
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Foxd3
forkhead box D3
IAGP
MGI
PMID:12381664
NCBI chr 4:99,544,536...99,546,908
Ensembl chr 4:99,544,536...99,546,859
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Glrx3
glutaredoxin 3
IEA
MGI
NCBI chr 7:137,039,302...137,071,360
Ensembl chr 7:137,039,343...137,070,323
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Gt(ROSA)26Sor
gene trap ROSA 26, Philippe Soriano
IAGP
MGI
PMID:10477299
NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294
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Hlcs
holocarboxylase synthetase (biotin- [propriony-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)
IEA
MGI
NCBI chr16:93,930,054...94,116,098
Ensembl chr16:93,929,741...94,114,430
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Hsp90b1
heat shock protein 90, beta (Grp94), member 1
IAGP
MGI
PMID:17634284
NCBI chr10:86,526,705...86,541,308
Ensembl chr10:86,526,073...86,541,373
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Ipo11
importin 11
IEA
MGI
NCBI chr13:106,930,947...107,073,466
Ensembl chr13:106,930,947...107,073,466
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Isca1
iron-sulfur cluster assembly 1
IEA
MGI
NCBI chr13:59,903,229...59,917,603
Ensembl chr13:59,903,223...59,917,624
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Macf1
microtubule-actin crosslinking factor 1
IAGP
MGI
PMID:16815997
NCBI chr 4:123,243,386...123,581,594
Ensembl chr 4:123,243,426...123,581,331
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Mars2
methionine-tRNA synthetase 2 (mitochondrial)
IEA
MGI
NCBI chr 1:55,276,336...55,279,217
Ensembl chr 1:55,276,336...55,287,629
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Mesd
mesoderm development LRP chaperone
IAGP
MGI
PMID:21337463
NCBI chr 7:83,533,074...83,549,519
Ensembl chr 7:83,533,674...83,550,740
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Mrpl22
mitochondrial ribosomal protein L22
IEA
MGI
NCBI chr11:58,060,850...58,070,406
Ensembl chr11:58,062,487...58,070,391
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Mrpl3
mitochondrial ribosomal protein L3
IEA
MGI
NCBI chr 9:104,930,394...104,954,665
Ensembl chr 9:104,930,438...104,957,087
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Mrpl44
mitochondrial ribosomal protein L44
IEA
MGI
NCBI chr 1:79,753,735...79,759,162
Ensembl chr 1:79,753,735...79,759,162
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Mrps18c
mitochondrial ribosomal protein S18C
IEA
MGI
NCBI chr 5:100,946,625...100,952,333
Ensembl chr 5:100,946,493...100,952,337
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Mrps22
mitochondrial ribosomal protein S22
IEA
MGI
NCBI chr 9:98,470,783...98,483,732
Ensembl chr 9:98,470,783...98,483,713
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Mrps25
mitochondrial ribosomal protein S25
IEA
MGI
NCBI chr 6:92,146,493...92,161,004
Ensembl chr 6:92,146,506...92,161,014
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Myl1
myosin, light polypeptide 1
IAGP
MGI
PMID:11884037
NCBI chr 1:66,963,454...66,987,091
Ensembl chr 1:66,963,454...66,984,563
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N6amt1
N-6 adenine-specific DNA methyltransferase 1 (putative)
IAGP
MGI
PMID:20606008
NCBI chr16:87,151,073...87,165,537
Ensembl chr16:87,151,073...87,165,630
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Nars2
asparaginyl-tRNA synthetase 2 (mitochondrial)(putative)
IEA
MGI
NCBI chr 7:96,600,698...96,725,606
Ensembl chr 7:96,600,712...96,713,965
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Ndufa9
NADH:ubiquinone oxidoreductase subunit A9
IEA
MGI
NCBI chr 6:126,798,826...126,826,107
Ensembl chr 6:126,798,684...126,826,099
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Ndufs8
NADH:ubiquinone oxidoreductase core subunit S8
IEA
MGI
NCBI chr19:3,958,863...3,962,774
Ensembl chr19:3,958,863...3,962,774
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Nfe2l1
nuclear factor, erythroid derived 2,-like 1
IAGP
MGI
PMID:9087432
NCBI chr11:96,708,239...96,720,810
Ensembl chr11:96,708,240...96,720,794
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Nodal
nodal growth differentiation factor
IAGP
MGI
PMID:7924997 PMID:18171685
NCBI chr10:61,253,751...61,261,117
Ensembl chr10:61,253,751...61,261,117
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Pik3c3
phosphatidylinositol 3-kinase catalytic subunit type 3
IAGP
MGI
PMID:21283715
NCBI chr18:30,390,441...30,481,179
Ensembl chr18:30,405,800...30,481,179
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Pknox1
Pbx/knotted 1 homeobox
IAGP
MGI
PMID:20826531
NCBI chr17:31,783,697...31,826,665
Ensembl chr17:31,783,708...31,826,667
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Pnn
pinin
IAGP
MGI
PMID:17654715
NCBI chr12:59,113,705...59,120,803
Ensembl chr12:59,113,670...59,120,784
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Prickle1
prickle planar cell polarity protein 1
IAGP
MGI
PMID:19706528
NCBI chr15:93,396,992...93,494,147
Ensembl chr15:93,396,995...93,493,772
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Rab10
RAB10, member RAS oncogene family
IAGP
MGI
PMID:25860786
NCBI chr12:3,297,428...3,359,969
Ensembl chr12:3,297,428...3,359,969
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Rab11a
RAB11A, member RAS oncogene family
IEA
MGI
NCBI chr 9:64,622,582...64,645,038
Ensembl chr 9:64,622,581...64,645,040
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Scx
scleraxis scleraxis bHLH transcription factor
IAGP
MGI
PMID:10477299
NCBI chr15:76,341,594...76,343,668
Ensembl chr15:76,341,652...76,343,658
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Sdhaf2
succinate dehydrogenase complex assembly factor 2
IEA
MGI
NCBI chr19:10,477,876...10,502,573
Ensembl chr19:10,477,898...10,503,506
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Ska2
spindle and kinetochore associated complex subunit 2
IEA
MGI
NCBI chr11:87,000,087...87,013,800
Ensembl chr11:87,000,060...87,015,461
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Smad2
SMAD family member 2
IAGP
MGI
PMID:9529255 PMID:9655392 PMID:9689088
NCBI chr18:76,369,898...76,444,819
Ensembl chr18:76,374,651...76,444,034
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Smad4
SMAD family member 4
IAGP
MGI
PMID:9420335 PMID:9520423
NCBI chr18:73,767,861...73,836,862
Ensembl chr18:73,772,080...73,836,851
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Sptssa
serine palmitoyltransferase, small subunit A
IEA
MGI
NCBI chr12:54,692,159...54,703,357
Ensembl chr12:54,692,177...54,703,358
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Srf
serum response factor
IAGP
MGI
PMID:9799237
NCBI chr17:46,857,764...46,869,194
Ensembl chr17:46,859,255...46,867,101
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Tfap2c
transcription factor AP-2, gamma
IAGP
MGI
PMID:12015300
NCBI chr 2:172,387,599...172,400,542
Ensembl chr 2:172,391,513...172,400,542
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Timm22
translocase of inner mitochondrial membrane 22
IEA
MGI
NCBI chr11:76,297,751...76,307,139
Ensembl chr11:76,297,778...76,307,118
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Tpk1
thiamine pyrophosphokinase
IEA
MGI
NCBI chr 6:43,316,510...43,644,726
Ensembl chr 6:43,321,935...43,643,212
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Trim33
tripartite motif-containing 33
IAGP
MGI
PMID:20573697
NCBI chr 3:103,186,609...103,266,086
Ensembl chr 3:103,186,609...103,266,091
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Trim59
tripartite motif-containing 59
IAGP
MGI
PMID:29467473
NCBI chr 3:68,942,625...68,952,075
Ensembl chr 3:68,942,621...68,952,088
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Tsg101
tumor susceptibility gene 101
IAGP
MGI
PMID:11172041
NCBI chr 7:46,538,693...46,569,716
Ensembl chr 7:46,538,697...46,569,717
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Txnrd1
thioredoxin reductase 1
IAGP
MGI
PMID:17697936
NCBI chr10:82,669,785...82,733,558
Ensembl chr10:82,669,785...82,733,546
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Ubiad1
UbiA prenyltransferase domain containing 1
IAGP
MGI
PMID:25127365
NCBI chr 4:148,518,952...148,529,217
Ensembl chr 4:148,518,952...148,529,228
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Usp39
ubiquitin specific peptidase 39
IAGP
MGI
PMID:35440748
NCBI chr 6:72,295,749...72,322,190
Ensembl chr 6:72,295,661...72,322,167
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Washc4
WASH complex subunit 4
IEA
MGI
NCBI chr10:83,379,073...83,432,350
Ensembl chr10:83,379,616...83,432,337
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Wls
wntless WNT ligand secretion mediator
IAGP
MGI
PMID:19841259 PMID:20614471 PMID:21246653
NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300
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Wnt3
wingless-type MMTV integration site family, member 3
IAGP
MGI
PMID:10431240
NCBI chr11:103,665,000...103,708,854
Ensembl chr11:103,664,976...103,708,783
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Ylpm1
YLP motif containing 1
IEA
MGI
NCBI chr12:85,042,977...85,130,501
Ensembl chr12:85,043,095...85,117,289
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