abnormal cranial nerve morphology - Ontology Report

PMID:20826656

NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104

Aldh1a2

aldehyde dehydrogenase family 1, subfamily A2

PMID:12563036

NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525

Arb2a

ARB2 cotranscriptional regulator A

PMID:29311329

NCBI chr13:77,856,799...78,314,359
Ensembl chr13:77,850,152...78,314,354

Rho GTPase activating protein 35

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

Cln8

CLN8 transmembrane ER and ERGIC protein

PMID:3783318

NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

early growth response 2

PMID:7903221 PMID:8224839

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

engrailed 1

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

erb-b2 receptor tyrosine kinase 2

PMID:7477377

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

erb-b2 receptor tyrosine kinase 3

PMID:9338783

NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521

erb-b2 receptor tyrosine kinase 4

PMID:7477376 PMID:12824469

NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218

fibulin 1

NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736

H2A.Z histone variant 2

PMID:11262227 PMID:21246653

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

homeobox A1

PMID:1346922 PMID:1680563 PMID:15367676

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

Itgb1

integrin beta 1 (fibronectin receptor beta)

PMID:15253938

NCBI chr 8:129,412,135...129,460,060
Ensembl chr 8:129,412,135...129,459,681

LIM domain only 4

NCBI chr 3:143,894,291...143,911,016
Ensembl chr 3:143,894,291...143,910,981

neurogenin 1

NCBI chr13:56,398,291...56,399,993
Ensembl chr13:56,398,291...56,399,976

Npr2

natriuretic peptide receptor 2

PMID:24431432

NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244

Nr6a1

nuclear receptor subfamily 6, group A, member 1

PMID:16530751

NCBI chr 2:38,613,381...38,816,473
Ensembl chr 2:38,613,382...38,817,700

Nrg1

neuregulin 1

PMID:7477375 PMID:10707974

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

neuropilin 1

NCBI chr 8:129,085,072...129,231,957
Ensembl chr 8:129,085,085...129,229,844

paired-like homeobox 2b

PMID:10704382

NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

Sall3

spalt like transcription factor 3

PMID:15282310

NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986

SMAD family member 1

NCBI chr 8:80,065,024...80,126,057
Ensembl chr 8:80,065,024...80,126,147

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

transcription factor AP-2, alpha

PMID:8622766

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

tubulin, beta 3 class III

NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754

vinculin

NCBI chr14:20,979,436...21,083,744
Ensembl chr14:20,979,466...21,083,744

Vegfa

vascular endothelial growth factor A

PMID:11381259

NCBI chr17:46,327,919...46,343,303
Ensembl chr17:46,327,919...46,343,295

Wls

wntless WNT ligand secretion mediator

PMID:21246653

NCBI chr 3:159,545,287...159,644,302
Ensembl chr 3:159,545,309...159,644,300

abnormal abducens nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

chimerin 1

NCBI chr 2:73,441,004...73,605,723
Ensembl chr 2:73,441,004...73,605,690

Ecel1

endothelin converting enzyme-like 1

PMID:29132416

NCBI chr 1:87,070,596...87,084,807
Ensembl chr 1:87,075,377...87,084,243

early growth response 2

PMID:7903221

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

Eph receptor A4

NCBI chr 1:77,343,819...77,491,763
Ensembl chr 1:77,343,822...77,491,725

ISL1 transcription factor, LIM/homeodomain

PMID:28346224

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Kif21a

kinesin family member 21A

NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151

Lhx3

LIM homeobox protein 3

NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301

Lhx4

LIM homeobox protein 4

NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430

MAF bZIP transcription factor B

NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985

Map1b

microtubule-associated protein 1B

NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048

Rara

retinoic acid receptor, alpha

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

Rarg

retinoic acid receptor, gamma

NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952

abnormal accessory nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

mesoderm posterior 1

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

neurogenin 1

NCBI chr13:56,398,291...56,399,993
Ensembl chr13:56,398,291...56,399,976

Nkx2-9

NK2 homeobox 9

PMID:12571110 PMID:22399681

NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal cochlear nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adgrg6

adhesion G protein-coupled receptor G6

PMID:21613327

NCBI chr10:14,278,327...14,421,467
Ensembl chr10:14,278,327...14,421,403

Atp2b2

ATPase, Ca++ transporting, plasma membrane 2

PMID:9668038

NCBI chr 6:113,720,803...114,019,574
Ensembl chr 6:113,720,792...114,019,574

Cacna1d

calcium channel, voltage-dependent, L type, alpha 1D subunit

PMID:12890513

NCBI chr14:29,761,898...30,213,113
Ensembl chr14:29,761,896...30,213,412

clarin 1

NCBI chr 3:58,751,449...58,792,633
Ensembl chr 3:58,751,449...58,792,761

Gabrb3

GABRB3, gamma-aminobutyric acid type A receptor subunit beta 3

PMID:17021187

NCBI chr 7:57,240,266...57,478,550
Ensembl chr 7:57,069,440...57,478,550

Igf1

insulin-like growth factor 1

PMID:11567053

NCBI chr10:87,694,127...87,772,909
Ensembl chr10:87,694,127...87,772,904

Kcnj10

potassium inwardly-rectifying channel, subfamily J, member 10

PMID:12618319

NCBI chr 1:172,168,777...172,201,652
Ensembl chr 1:172,168,777...172,201,652

laminin, alpha 2

NCBI chr10:26,857,281...27,493,021
Ensembl chr10:26,856,032...27,495,754

myosin XVA

NCBI chr11:60,360,165...60,419,195
Ensembl chr11:60,360,165...60,419,195

neurotrophic tyrosine kinase, receptor, type 2

NCBI chr13:58,954,286...59,281,784
Ensembl chr13:58,954,383...59,281,784

Ntrk3

neurotrophic tyrosine kinase, receptor, type 3

NCBI chr 7:77,825,711...78,228,865
Ensembl chr 7:77,825,707...78,387,760

otoferlin

NCBI chr 5:30,524,410...30,620,073
Ensembl chr 5:30,524,406...30,619,276

Sod1

superoxide dismutase 1, soluble

PMID:10464373

NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217

abnormal facial nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adarb1

adenosine deaminase, RNA-specific, B1

PMID:20826656

NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104

Arb2a

ARB2 cotranscriptional regulator A

PMID:29311329

NCBI chr13:77,856,799...78,314,359
Ensembl chr13:77,850,152...78,314,354

Rho GTPase activating protein 35

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

Cdk5

cyclin dependent kinase 5

PMID:8855328

NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

Dlx1

distal-less homeobox 1

PMID:9187081

NCBI chr 2:71,358,457...71,364,325
Ensembl chr 2:71,358,457...71,364,325

Dlx2

distal-less homeobox 2

PMID:7590232 PMID:9187081

NCBI chr 2:71,373,752...71,377,095
Ensembl chr 2:71,373,752...71,377,098

endothelin receptor type A

PMID:9449664

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

early growth response 2

PMID:7903221 PMID:9102308

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

engrailed 1

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

erb-b2 receptor tyrosine kinase 4

NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218

Eya1

EYA transcriptional coactivator and phosphatase 1

PMID:10471511

NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459

Gata3

GATA binding protein 3

PMID:34383890

NCBI chr 2:9,861,889...9,894,845
Ensembl chr 2:9,861,889...9,894,845

Gdf15

growth differentiation factor 15

PMID:19864576

NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106

Grb2

growth factor receptor bound protein 2

PMID:11369229

NCBI chr11:115,534,871...115,599,423
Ensembl chr11:115,534,871...115,599,423

gene trap ROSA 26, Philippe Soriano

PMID:20133851 PMID:26545946

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

H2A.Z histone variant 2

PMID:11262227 PMID:15198977 PMID:20133851

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

homeobox A1

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

Hoxa2

homeobox A2

PMID:7903600 PMID:7903601 PMID:11578867

NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811

Hoxb1

homeobox B1

PMID:8898234 PMID:8967950 PMID:15198977 PMID:16890163

NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082

homeobox B2

NCBI chr11:96,242,458...96,244,846
Ensembl chr11:96,241,351...96,244,838

Hprt1

hypoxanthine phosphoribosyltransferase 1

PMID:25975378

NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536

Meis homeobox 2

NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320

Myh10

myosin, heavy polypeptide 10, non-muscle

PMID:15034141

NCBI chr11:68,581,228...68,707,451
Ensembl chr11:68,582,385...68,707,458

neurogenin 2

NCBI chr 3:127,426,382...127,429,285
Ensembl chr 3:127,426,784...127,429,280

neuropilin 1

NCBI chr 8:129,085,072...129,231,957
Ensembl chr 8:129,085,085...129,229,844

Otulin

OTU deubiquitinase with linear linkage specificity

PMID:16354937

NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779

Phox2a

paired-like homeobox 2a

PMID:10882479 PMID:20133851

NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933

paired-like homeobox 2b

PMID:25975378

NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

Six1

sine oculis-related homeobox 1

PMID:12874121

NCBI chr12:73,088,601...73,093,486
Ensembl chr12:73,086,789...73,100,661

Slc5a3

solute carrier family 5 (inositol transporters), member 3

PMID:16174787

NCBI chr16:91,855,210...91,884,361
Ensembl chr16:91,855,210...91,884,361

Smn1

survival motor neuron 1

PMID:15076752

NCBI chr13:100,259,713...100,274,206
Ensembl chr13:100,261,360...100,274,198

Tbce

tubulin-specific chaperone E

PMID:1641039

NCBI chr13:14,172,532...14,214,235
Ensembl chr13:14,172,534...14,214,223

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

transcription factor AP-2, alpha

PMID:8622766 PMID:26545946

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

Tor1a

torsin family 1, member A (torsin A)

PMID:24937429

NCBI chr 2:30,850,573...30,857,930
Ensembl chr 2:30,850,639...30,857,945

abnormal facial nerve topology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

abnormal glossopharyngeal nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rho GTPase activating protein 35

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

early growth response 2

PMID:7903221 PMID:9102308

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

erb-b2 receptor tyrosine kinase 2

PMID:7477377 PMID:9362461

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

erb-b2 receptor tyrosine kinase 4

NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218

fibulin 1

NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

homeobox A1

PMID:1346922 PMID:1680563 PMID:15367676

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

homeobox A2

NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811

Hoxa3

homeobox A3

PMID:9441667 PMID:20498049

NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316

Lmx1a

LIM homeobox transcription factor 1 alpha

PMID:10842066

NCBI chr 1:167,515,864...167,676,310
Ensembl chr 1:167,516,806...167,676,310

multiple EGF-like-domains 8

NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal hypoglossal nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adarb1

adenosine deaminase, RNA-specific, B1

PMID:20826656

NCBI chr10:77,126,561...77,254,125
Ensembl chr10:77,126,560...77,254,104

Rho GTPase activating protein 35

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

Cdk5

cyclin dependent kinase 5

PMID:8855328

NCBI chr 5:24,612,595...24,628,737
Ensembl chr 5:24,623,239...24,628,528

Cdx1

caudal type homeobox 1

PMID:26952979

NCBI chr18:61,151,934...61,169,271
Ensembl chr18:61,151,934...61,169,271

Cln8

CLN8 transmembrane ER and ERGIC protein

PMID:3783318

NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

erb-b2 receptor tyrosine kinase 2

PMID:9362461

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

gene trap ROSA 26, Philippe Soriano

PMID:26952979 PMID:31300413

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Hrk

harakiri, BCL2 interacting protein (contains only BH3 domain)

PMID:15084651

NCBI chr 5:118,307,829...118,327,543
Ensembl chr 5:118,302,713...118,327,543

Lhx3

LIM homeobox protein 3

NCBI chr 2:26,090,224...26,098,261
Ensembl chr 2:26,090,224...26,098,301

Lhx4

LIM homeobox protein 4

NCBI chr 1:155,573,777...155,627,481
Ensembl chr 1:155,573,777...155,627,430

Mnx1

motor neuron and pancreas homeobox 1

PMID:10482234

NCBI chr 5:29,678,821...29,683,468
Ensembl chr 5:29,678,032...29,683,468

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

paired box 3

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

Rara

retinoic acid receptor, alpha

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

Rarb

retinoic acid receptor, beta

NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924

Rbfox2

RNA binding protein, fox-1 homolog (C. elegans) 2

PMID:31241461

NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204

Rdh10

retinol dehydrogenase 10 (all-trans)

PMID:31300413

NCBI chr 1:16,176,106...16,202,774
Ensembl chr 1:16,175,998...16,203,958

Reg2

regenerating islet-derived 2

PMID:18678917

NCBI chr 6:78,382,138...78,385,082
Ensembl chr 6:78,372,606...78,385,089

Sall3

spalt like transcription factor 3

PMID:15282310

NCBI chr18:81,010,204...81,030,236
Ensembl chr18:81,009,591...81,029,986

abnormal hypoglossal nerve topology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

4933434E20Rik

RIKEN cDNA 4933434E20 gene

NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648

Actn4

actinin alpha 4

NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765

Atg16l1

autophagy related 16 like 1

NCBI chr 1:87,683,730...87,720,150
Ensembl chr 1:87,683,592...87,720,150

Auts2

autism susceptibility candidate 2

NCBI chr 5:131,466,171...132,572,059
Ensembl chr 5:131,466,171...132,572,183

B9 protein domain 2

NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983

bromodomain containing 2

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

Capza2

capping actin protein of muscle Z-line subunit alpha 2

NCBI chr 6:17,637,009...17,666,971
Ensembl chr 6:17,636,233...17,666,971

Cfap53

cilia and flagella associated protein 53

NCBI chr18:74,416,171...74,493,055
Ensembl chr18:74,416,161...74,493,057

Cir1

corepressor interacting with RBPJ, 1

NCBI chr 2:73,113,445...73,142,922
Ensembl chr 2:73,113,449...73,143,045

Crim1

cysteine rich transmembrane BMP regulator 1

NCBI chr17:78,507,602...78,684,021
Ensembl chr17:78,507,677...78,684,021

D930028M14Rik

RIKEN cDNA D930028M14 gene

NCBI chr 7:24,851,882...24,856,055
Ensembl chr 7:24,851,846...24,856,054

Dhx35

DEAH-box helicase 35

NCBI chr 2:158,636,674...158,700,141
Ensembl chr 2:158,636,727...158,700,134

Flvcr2

feline leukemia virus subgroup C cellular receptor 2

NCBI chr12:85,793,313...85,860,359
Ensembl chr12:85,793,313...85,860,359

Fut8

fucosyltransferase 8

NCBI chr12:77,284,204...77,522,772
Ensembl chr12:77,284,899...77,523,112

Gm5544

predicted gene 5544

NCBI chr 3:97,837,489...97,874,334
Ensembl chr 3:97,837,489...97,874,336

H13

histocompatibility 13

NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590

Hmgxb3

HMG box domain containing 3

NCBI chr18:61,264,349...61,310,122
Ensembl chr18:61,264,349...61,310,122

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

NOL1/NOP2/Sun domain family member 2

NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899

Polb

polymerase (DNA directed), beta

NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451

Prmt7

protein arginine N-methyltransferase 7

NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426

Prrc2b

proline-rich coiled-coil 2B

NCBI chr 2:32,041,002...32,124,549
Ensembl chr 2:32,041,094...32,124,549

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

Setd5

SET domain containing 5

NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396

Sh3pxd2a

SH3 and PX domains 2A

NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840

Slc20a2

solute carrier family 20, member 2

NCBI chr 8:22,966,716...23,059,632
Ensembl chr 8:22,966,804...23,059,628

Smg9

SMG9 nonsense mediated mRNA decay factor

NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203

signal sequence receptor, beta

NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726

Xpnpep1

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

NCBI chr19:52,919,710...53,027,093
Ensembl chr19:52,920,357...53,028,645

Zmynd11

zinc finger, MYND domain containing 11

NCBI chr13:9,734,872...9,816,050
Ensembl chr13:9,734,869...9,815,366

abnormal intrathoracic topology of vagus nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atg16l1

autophagy related 16 like 1

NCBI chr 1:87,683,730...87,720,150
Ensembl chr 1:87,683,592...87,720,150

B9 protein domain 2

NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983

Cfap53

cilia and flagella associated protein 53

NCBI chr18:74,416,171...74,493,055
Ensembl chr18:74,416,161...74,493,057

Gm5544

predicted gene 5544

NCBI chr 3:97,837,489...97,874,334
Ensembl chr 3:97,837,489...97,874,336

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

abnormal mandibular nerve branching

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Dlx2

distal-less homeobox 2

PMID:7590232

NCBI chr 2:71,373,752...71,377,095
Ensembl chr 2:71,373,752...71,377,098

endothelin receptor type A

PMID:9449664

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

mesoderm posterior 1

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

Nrg1

neuregulin 1

PMID:8643489 PMID:9789034

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal mandibular nerve innervation pattern

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

abnormal mandibular nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

endothelin receptor type A

PMID:19017795

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

erb-b2 receptor tyrosine kinase 3

NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

abnormal maxillary nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

PMID:11157778

NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

multiple EGF-like-domains 8

NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

abnormal oculomotor nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Col4a2

collagen, type IV, alpha 2

NCBI chr 8:11,362,805...11,499,287
Ensembl chr 8:11,362,805...11,499,287

ephrin B1

NCBI chr X:98,179,667...98,192,628
Ensembl chr X:98,179,736...98,192,597

Kif21a

kinesin family member 21A

NCBI chr15:90,817,478...90,934,547
Ensembl chr15:90,817,479...90,934,151

MAF bZIP transcription factor B

NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985

Map1b

microtubule-associated protein 1B

NCBI chr13:99,557,972...99,653,110
Ensembl chr13:99,557,954...99,653,048

Nr6a1

nuclear receptor subfamily 6, group A, member 1

PMID:16530751

NCBI chr 2:38,613,381...38,816,473
Ensembl chr 2:38,613,382...38,817,700

neuropilin 2

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

Otx1

orthodenticle homeobox 1

PMID:9077465

NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897

orthodenticle homeobox 2

PMID:7590242 PMID:9077465

NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276

paired box 3

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

Phox2a

paired-like homeobox 2a

PMID:16319924

NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933

Rbfox2

RNA binding protein, fox-1 homolog (C. elegans) 2

PMID:31241461

NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204

Sema3f

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

PMID:12890759

NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674

tubulin, beta 3 class III

NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754

abnormal olfactory nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

adenylate cyclase 3

NCBI chr12:4,183,397...4,263,525
Ensembl chr12:4,183,103...4,263,525

Atp11a

ATPase, class VI, type 11A

NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728

brain derived neurotrophic factor

PMID:17493809

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

bromodomain containing 2

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

Cnga2

cyclic nucleotide gated channel alpha 2

PMID:10531436

NCBI chr X:71,035,455...71,053,824
Ensembl chr X:71,035,455...71,053,824

contactin 4

NCBI chr 6:105,654,505...106,677,102
Ensembl chr 6:105,654,621...106,676,271

Dlx5

distal-less homeobox 5

PMID:12533617

NCBI chr 6:6,877,801...6,882,068
Ensembl chr 6:6,877,805...6,882,085

Ebf2

early B cell factor 2

PMID:17521568

NCBI chr14:67,470,741...67,668,401
Ensembl chr14:67,470,741...67,668,367

Gli3

GLI-Kruppel family member GLI3

PMID:2323034 PMID:6049666 PMID:8026071

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

Klf7

Kruppel-like transcription factor 7 (ubiquitous)

PMID:15964824

NCBI chr 1:64,068,607...64,161,504
Ensembl chr 1:64,068,606...64,161,441

Lgals1

lectin, galactose binding, soluble 1

PMID:8873770

NCBI chr15:78,810,925...78,814,665
Ensembl chr15:78,810,925...78,814,665

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

Ngfr

nerve growth factor receptor (TNFR superfamily, member 16)

PMID:17493809

NCBI chr11:95,459,644...95,478,524
Ensembl chr11:95,459,644...95,478,561

Npc1

NPC intracellular cholesterol transporter 1

PMID:24391715

NCBI chr18:12,322,751...12,369,851
Ensembl chr18:12,322,749...12,369,457

Omp

olfactory marker protein

PMID:15157418 PMID:17493809 PMID:17537788

NCBI chr 7:97,792,566...97,794,654
Ensembl chr 7:97,792,566...97,794,709

Or10a4

olfactory receptor family 10 subfamily A member 4

PMID:15157418 PMID:17537788

NCBI chr 7:106,696,674...106,697,621
Ensembl chr 7:106,692,427...106,699,015

Or4e5

olfactory receptor family 4 subfamily E member 5

PMID:15157418

NCBI chr14:52,727,392...52,733,152
Ensembl chr14:52,726,248...52,733,206

Or8a1b

olfactory receptor family 8 subfamily A member 1B

PMID:17537788

NCBI chr 9:37,622,644...37,623,576
Ensembl chr 9:37,620,260...37,627,546

paired box 6

NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Sh2d3c

SH2 domain containing 3C

PMID:20881139

NCBI chr 2:32,611,072...32,645,008
Ensembl chr 2:32,611,067...32,645,524

Zeb1

zinc finger E-box binding homeobox 1

PMID:11776395

NCBI chr18:5,591,330...5,775,468
Ensembl chr18:5,591,860...5,775,467

Zfp423

zinc finger protein 423

PMID:17521568

NCBI chr 8:88,388,438...88,688,665
Ensembl chr 8:88,388,438...88,686,223

Zic3

zinc finger protein of the cerebellum 3

PMID:11959836

NCBI chr X:57,075,988...57,081,990
Ensembl chr X:57,068,060...57,087,096

abnormal ophthalmic nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bmpr2

bone morphogenetic protein receptor type 2

NCBI chr 1:59,802,721...59,917,240
Ensembl chr 1:59,802,559...59,918,173

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

PMID:11157778

NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

erb-b2 receptor tyrosine kinase 3

NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

multiple EGF-like-domains 8

PMID:20410128 PMID:24052814

NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342

Sema3a

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

PMID:20410128

NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

abnormal optic chiasm morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Adamts3

ADAM metallopeptidase with thrombospondin type 1 motif 3

NCBI chr 5:89,821,700...90,031,521
Ensembl chr 5:89,824,946...90,031,193

B9 protein domain 2

NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983

bromodomain containing 2

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

Ehbp1l1

EH domain binding protein 1-like 1

NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345

Gli3

GLI-Kruppel family member GLI3

PMID:6049666

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

H13

histocompatibility 13

NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590

Mybphl

myosin binding protein H-like

NCBI chr 3:108,272,227...108,287,373
Ensembl chr 3:108,272,227...108,287,373

neurofibromin 1

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

NOL1/NOP2/Sun domain family member 2

NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899

Scrib

scribbled planar cell polarity

PMID:10862153

NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633

Smg9

SMG9 nonsense mediated mRNA decay factor

NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203

signal sequence receptor, beta

NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726

abnormal optic disk morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

1700001O22Rik

RIKEN cDNA 1700001O22 gene

NCBI chr 2:30,685,575...30,695,101
Ensembl chr 2:30,684,781...30,693,673

Agbl1

ATP/GTP binding protein-like 1

NCBI chr 7:75,879,311...76,774,446
Ensembl chr 7:75,879,635...76,774,446

Ahsa1

AHA1, activator of heat shock protein ATPase 1

NCBI chr12:87,313,189...87,320,772
Ensembl chr12:87,313,253...87,320,772

Aif1

allograft inflammatory factor 1

NCBI chr17:35,389,967...35,394,977
Ensembl chr17:35,389,967...35,395,044

Apmap

adipocyte plasma membrane associated protein

NCBI chr 2:150,425,000...150,450,487
Ensembl chr 2:150,425,000...150,450,487

Arl2bp

ADP-ribosylation factor-like 2 binding protein

NCBI chr 8:95,393,228...95,401,085
Ensembl chr 8:95,393,228...95,401,053

Atp8b1

ATPase, class I, type 8B, member 1

NCBI chr18:64,662,050...64,794,342
Ensembl chr18:64,662,038...64,794,338

Bach2

BTB and CNC homology, basic leucine zipper transcription factor 2

NCBI chr 4:32,238,413...32,586,109
Ensembl chr 4:32,238,804...32,586,108

Bmp4

bone morphogenetic protein 4

PMID:11722794

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

Bmpr1b

bone morphogenetic protein receptor, type 1B

NCBI chr 3:141,540,230...141,875,335
Ensembl chr 3:141,542,897...141,875,186

Btbd7

BTB domain containing 7

NCBI chr12:102,747,056...102,844,733
Ensembl chr12:102,747,056...102,844,730

Cant1

calcium activated nucleotidase 1

NCBI chr11:118,297,115...118,309,971
Ensembl chr11:118,297,115...118,309,912

Ccdc34

coiled-coil domain containing 34

NCBI chr 2:109,847,816...110,006,007
Ensembl chr 2:109,848,162...110,003,705

Cib3

calcium and integrin binding family member 3

NCBI chr 8:72,958,180...72,966,892
Ensembl chr 8:72,958,179...72,966,840

Cidec

cell death-inducing DFFA-like effector c

NCBI chr 6:113,401,595...113,412,721
Ensembl chr 6:113,401,595...113,412,721

Col18a1

collagen, type XVIII, alpha 1

NCBI chr10:76,888,013...77,002,351
Ensembl chr10:76,888,012...77,002,382

Dbnl

drebrin-like

NCBI chr11:5,730,233...5,750,980
Ensembl chr11:5,738,488...5,750,962

Dnase1l2

deoxyribonuclease 1-like 2

NCBI chr17:24,659,061...24,662,075
Ensembl chr17:24,659,055...24,662,079

Dnm1l

dynamin 1-like

NCBI chr16:16,130,092...16,176,863
Ensembl chr16:16,130,094...16,176,823

Dnmbp

dynamin binding protein

NCBI chr19:43,835,259...43,930,930
Ensembl chr19:43,835,260...43,928,630

Dpp3

dipeptidylpeptidase 3

NCBI chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315

Egr1

early growth response 1

NCBI chr18:34,994,260...34,998,009
Ensembl chr18:34,992,876...34,998,037

Ehmt1

euchromatic histone methyltransferase 1

NCBI chr 2:24,680,781...24,809,658
Ensembl chr 2:24,679,940...24,809,626

Elp1

elongator complex protein 1

PMID:22922231

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

Fbn2

fibrillin 2

NCBI chr18:58,141,689...58,343,200
Ensembl chr18:58,141,695...58,343,559

Fgf10

fibroblast growth factor 10

NCBI chr13:118,851,199...118,928,651
Ensembl chr13:118,806,327...118,928,651

Fhip2a

FHF complex subunit HOOK interacting protein 2A

NCBI chr19:57,349,355...57,378,026
Ensembl chr19:57,349,112...57,378,018

Fkrp

fukutin related protein

PMID:20675713

NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657

Gbx1

gastrulation brain homeobox 1

NCBI chr 5:24,709,424...24,731,846
Ensembl chr 5:24,707,755...24,732,200

Gdf6

growth differentiation factor 6

NCBI chr 4:9,844,372...9,862,345
Ensembl chr 4:9,844,372...9,862,345

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Hipk4

homeodomain interacting protein kinase 4

NCBI chr 7:27,222,686...27,230,605
Ensembl chr 7:27,222,692...27,230,600

Hmcn1

hemicentin 1

NCBI chr 1:150,438,251...150,869,568
Ensembl chr 1:150,438,275...150,869,186

IK cytokine

NCBI chr18:36,877,709...36,890,692
Ensembl chr18:36,877,709...36,890,692

Kdm8

lysine (K)-specific demethylase 8

NCBI chr 7:125,043,788...125,062,823
Ensembl chr 7:125,043,848...125,061,441

Mapkapk2

MAP kinase-activated protein kinase 2

NCBI chr 1:130,981,437...131,025,580
Ensembl chr 1:130,981,437...131,025,563

Mettl23

methyltransferase like 23

NCBI chr11:116,734,341...116,740,566
Ensembl chr11:116,734,104...116,745,089

Mettl5

methyltransferase 5, N6-adenosine

NCBI chr 2:69,701,539...69,717,961
Ensembl chr 2:69,701,542...69,715,959

Nbas

neuroblastoma amplified sequence

NCBI chr12:13,319,102...13,687,381
Ensembl chr12:13,319,134...13,633,812

Nmt2

N-myristoyltransferase 2

NCBI chr 2:3,285,249...3,329,914
Ensembl chr 2:3,285,249...3,329,914

Noc4l

NOC4 like

NCBI chr 5:110,796,285...110,801,248
Ensembl chr 5:110,796,284...110,801,283

Nos1ap

nitric oxide synthase 1 (neuronal) adaptor protein

NCBI chr 1:170,143,039...170,417,371
Ensembl chr 1:170,130,237...170,417,430

Nub1

negative regulator of ubiquitin-like proteins 1

NCBI chr 5:24,890,813...24,915,376
Ensembl chr 5:24,890,530...24,915,376

Nxn

nucleoredoxin

NCBI chr11:76,148,052...76,289,967
Ensembl chr11:76,148,024...76,289,966

Obp2a

odorant binding protein 2A

NCBI chr 2:25,587,589...25,593,338
Ensembl chr 2:25,590,055...25,593,338

Olfml2b

olfactomedin-like 2B

NCBI chr 1:170,472,101...170,510,356
Ensembl chr 1:170,472,101...170,510,358

Opa1

OPA1, mitochondrial dynamin like GTPase

PMID:17314202

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

Pard3

par-3 family cell polarity regulator

NCBI chr 8:127,790,131...128,338,767
Ensembl chr 8:127,790,643...128,338,767

Pax2

paired box 2

PMID:8943028 PMID:20221250

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

Pcsk6

proprotein convertase subtilisin/kexin type 6

NCBI chr 7:65,511,884...65,700,134
Ensembl chr 7:65,511,482...65,700,134

Pde6b

phosphodiesterase 6B, cGMP, rod receptor, beta polypeptide

PMID:16123450

NCBI chr 5:108,536,239...108,579,609
Ensembl chr 5:108,536,257...108,580,263

Pepd

peptidase D

NCBI chr 7:34,611,832...34,744,131
Ensembl chr 7:34,611,804...34,744,133

Pex6

peroxisomal biogenesis factor 6

NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467

Pitx2

paired-like homeodomain transcription factor 2

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

Plekha5

pleckstrin homology domain containing, family A member 5

NCBI chr 6:140,369,358...140,542,836
Ensembl chr 6:140,369,780...140,542,836

Plekhm1

pleckstrin homology domain containing, family M (with RUN domain) member 1

NCBI chr11:103,255,101...103,303,531
Ensembl chr11:103,255,101...103,303,513

Plxna4

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

POU domain, class 4, transcription factor 2

PMID:15797020

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

Ppat

phosphoribosyl pyrophosphate amidotransferase

NCBI chr 5:77,061,096...77,099,425
Ensembl chr 5:77,061,096...77,099,425

Ppfia2

protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2

NCBI chr10:106,305,129...106,769,329
Ensembl chr10:106,306,200...106,771,813

Ppfibp2

PTPRF interacting protein, binding protein 2 (liprin beta 2)

NCBI chr 7:107,192,608...107,347,790
Ensembl chr 7:107,194,414...107,347,790

Prdm5

PR domain containing 5

NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994

Ptp4a1

protein tyrosine phosphatase 4a1

NCBI chr 1:30,979,384...30,988,846
Ensembl chr 1:30,979,383...30,988,390
Ensembl chr 1:30,979,383...30,988,390

Rab3gap2

RAB3 GTPase activating protein subunit 2

NCBI chr 1:184,936,287...185,018,953
Ensembl chr 1:184,936,314...185,018,956

Rabgap1

RAB GTPase activating protein 1

NCBI chr 2:37,333,274...37,463,653
Ensembl chr 2:37,333,291...37,456,466

Rcc2

regulator of chromosome condensation 2

NCBI chr 4:140,427,308...140,450,531
Ensembl chr 4:140,427,852...140,450,531

Rnf168

ring finger protein 168

NCBI chr16:32,096,279...32,120,260
Ensembl chr16:32,096,277...32,120,252

Rxfp2

relaxin/insulin-like family peptide receptor 2

NCBI chr 5:149,941,487...150,006,015
Ensembl chr 5:149,942,140...150,005,649

Rxra

retinoid X receptor alpha

PMID:19255444

NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969

Sh3rf1

SH3 domain containing ring finger 1

NCBI chr 8:61,677,117...61,918,327
Ensembl chr 8:61,676,906...61,849,105

Shmt2

serine hydroxymethyltransferase 2 (mitochondrial)

NCBI chr10:127,352,992...127,358,313
Ensembl chr10:127,352,992...127,358,313

Slc7a11

solute carrier family 7 (cationic amino acid transporter, y+ system), member 11

NCBI chr 3:50,319,385...50,403,947
Ensembl chr 3:49,846,975...50,398,063

Smoc1

SPARC related modular calcium binding 1

NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188

Sox2

SRY (sex determining region Y)-box 2

NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610

Spidr

scaffolding protein involved in DNA repair

NCBI chr16:15,707,088...15,964,715
Ensembl chr16:15,707,088...15,964,715

Spin1

spindlin 1

NCBI chr13:51,254,523...51,306,588
Ensembl chr13:51,254,916...51,306,582

Sptlc3

serine palmitoyltransferase, long chain base subunit 3

NCBI chr 2:139,335,833...139,478,981
Ensembl chr 2:139,335,833...139,479,594

Sra1

steroid receptor RNA activator 1

NCBI chr18:36,800,240...36,803,364
Ensembl chr18:36,799,734...36,803,868

Stoml1

stomatin-like 1

NCBI chr 9:58,160,443...58,169,807
Ensembl chr 9:58,160,447...58,169,803

Stx5a

syntaxin 5A

NCBI chr19:8,718,788...8,733,006
Ensembl chr19:8,718,777...8,733,433

Tex2

testis expressed gene 2

NCBI chr11:106,392,965...106,504,259
Ensembl chr11:106,392,973...106,504,249

transcription factor AP-2 beta

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

Tmem11

transmembrane protein 11

NCBI chr11:60,755,278...60,769,864
Ensembl chr11:60,755,278...60,770,098

Trf

transferrin

NCBI chr 9:103,086,075...103,107,485
Ensembl chr 9:103,081,200...103,107,643

Trim39

tripartite motif-containing 39

NCBI chr17:36,569,764...36,582,896
Ensembl chr17:36,569,765...36,583,139

Zbtb16

zinc finger and BTB domain containing 16

NCBI chr 9:48,563,097...48,747,525
Ensembl chr 9:48,565,597...48,747,522

Zbtb5

zinc finger and BTB domain containing 5

NCBI chr 4:44,991,242...45,012,412
Ensembl chr 4:44,991,242...45,012,412

Zfp329

zinc finger protein 329

NCBI chr 7:12,537,705...12,552,844
Ensembl chr 7:12,538,904...12,552,785

Zfp930

zinc finger protein 930

NCBI chr 8:69,661,671...69,683,191
Ensembl chr 8:69,661,690...69,683,188

abnormal optic nerve innervation

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

atonal bHLH transcription factor 7

PMID:22609278

NCBI chr10:62,935,564...62,937,059
Ensembl chr10:62,935,430...62,937,058

Dcc

deleted in colorectal carcinoma

PMID:9331350

NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140

Elp1

elongator complex protein 1

PMID:22922231

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

Eph receptor B1

NCBI chr 9:101,799,327...102,231,892
Ensembl chr 9:101,799,327...102,231,892

Gap43

growth associated protein 43

PMID:7859286 PMID:9671660 PMID:9852588

NCBI chr16:42,068,915...42,161,014
Ensembl chr16:42,068,805...42,161,014

Gpr143

G protein-coupled receptor 143

PMID:11092754

NCBI chr X:151,564,917...151,591,647
Ensembl chr X:151,564,917...151,591,642

gene trap ROSA 26, Philippe Soriano

PMID:22609278

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

ISL1 transcription factor, LIM/homeodomain

PMID:18434421

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Nmnat2

nicotinamide nucleotide adenylyltransferase 2

PMID:23946398

NCBI chr 1:152,830,532...152,995,012
Ensembl chr 1:152,830,744...152,995,007

paired box 2

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

POU domain, class 4, transcription factor 2

PMID:18434421

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

Scrib

scribbled planar cell polarity

PMID:10862153

NCBI chr15:75,919,011...75,941,633
Ensembl chr15:75,919,007...75,941,633

Vax1

ventral anterior homeobox 1

PMID:10601035 PMID:10601036 PMID:15905411

NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488

Vax2

ventral anterior homeobox 2

PMID:11830578 PMID:15905411

NCBI chr 6:83,688,221...83,715,295
Ensembl chr 6:83,688,246...83,715,295

abnormal optic nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

atonal bHLH transcription factor 7

PMID:11156601 PMID:18787067 PMID:22609278 PMID:23293286

NCBI chr10:62,935,564...62,937,059
Ensembl chr10:62,935,430...62,937,058

BarH like homeobox 2

NCBI chr 5:106,600,389...106,606,032
Ensembl chr 5:106,600,389...106,606,032

Bcl2

B cell leukemia/lymphoma 2

PMID:10321489

NCBI chr 1:106,465,906...106,642,020
Ensembl chr 1:106,465,908...106,642,004

brain derived neurotrophic factor

PMID:20130183

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

Bmp4

bone morphogenetic protein 4

PMID:11722794

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

Cisd2

CDGSH iron sulfur domain 2

PMID:19451219

NCBI chr 3:135,112,173...135,129,194
Ensembl chr 3:135,112,173...135,129,686

Dcc

deleted in colorectal carcinoma

PMID:9331350

NCBI chr18:71,386,703...72,484,299
Ensembl chr18:71,386,705...72,484,140

eomesodermin

NCBI chr 9:118,307,259...118,315,176
Ensembl chr 9:118,307,280...118,315,200

Fa2h

fatty acid 2-hydroxylase

PMID:21491498

NCBI chr 8:112,071,770...112,120,453
Ensembl chr 8:112,071,767...112,120,456

forkhead box G1

NCBI chr12:49,429,666...49,433,650
Ensembl chr12:49,429,443...49,433,644

Fyn proto-oncogene

NCBI chr10:39,245,735...39,441,377
Ensembl chr10:39,244,851...39,441,377

Gdf11

growth differentiation factor 11

PMID:15976303

NCBI chr10:128,716,393...128,727,587
Ensembl chr10:128,718,164...128,727,587

gene trap ROSA 26, Philippe Soriano

PMID:18641296 PMID:21552476 PMID:22609278

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Gucy1a1

guanylate cyclase 1, soluble, alpha 1

PMID:23527308

NCBI chr 3:81,999,734...82,053,253
Ensembl chr 3:81,999,734...82,053,096

ISL1 transcription factor, LIM/homeodomain

PMID:18460603

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Lmx1b

LIM homeobox transcription factor 1 beta

PMID:24809698

NCBI chr 2:33,450,977...33,531,219
Ensembl chr 2:33,450,977...33,530,620

Lrp2

low density lipoprotein receptor-related protein 2

PMID:26107939

NCBI chr 2:69,254,679...69,416,373
Ensembl chr 2:69,254,684...69,416,409

Mal

myelin and lymphocyte protein, T cell differentiation protein

PMID:15337780

NCBI chr 2:127,475,146...127,498,615
Ensembl chr 2:127,475,146...127,498,615

Mapt

microtubule-associated protein tau

PMID:20130183

NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916

mucolipin 1

NCBI chr 8:3,550,458...3,565,232
Ensembl chr 8:3,550,457...3,565,232

Mog

myelin oligodendrocyte glycoprotein

PMID:18641296 PMID:19483694

NCBI chr17:37,321,632...37,334,290
Ensembl chr17:37,321,635...37,334,290

mt-Nd6

NADH dehydrogenase 6, mitochondrial

PMID:23129651

NCBI chr MT:13,552...14,070
Ensembl chr MT:13,552...14,070

Myrf

myelin regulatory factor

PMID:19596243

NCBI chr19:10,185,635...10,218,134
Ensembl chr19:10,185,636...10,218,112

neuron navigator 2

NCBI chr 7:48,608,796...49,259,838
Ensembl chr 7:48,558,464...49,259,838

Neurod1

neurogenic differentiation 1

PMID:11861467 PMID:23293286

NCBI chr 2:79,282,981...79,286,980
Ensembl chr 2:79,282,865...79,287,095

Neurod4

neurogenic differentiation 4

PMID:11861467

NCBI chr10:130,104,021...130,116,123
Ensembl chr10:130,104,021...130,116,109

Nf1

neurofibromin 1

PMID:20600672 PMID:21896734

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

NK6 homeobox 2

NCBI chr 7:139,159,292...139,162,726
Ensembl chr 7:139,159,292...139,162,713

Nr1h2

nuclear receptor subfamily 1, group H, member 2

PMID:31371497

NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375

Nr2e1

nuclear receptor subfamily 2, group E, member 1

PMID:10706625 PMID:11997145

NCBI chr10:42,437,959...42,459,721
Ensembl chr10:42,437,959...42,459,628

neurotrophic tyrosine kinase, receptor, type 2

PMID:11681842

NCBI chr13:58,954,286...59,281,784
Ensembl chr13:58,954,383...59,281,784

olfactomedin 2

NCBI chr 9:20,578,986...20,657,660
Ensembl chr 9:20,578,986...20,657,645

Olig2

oligodendrocyte transcription factor 2

PMID:19596243

NCBI chr16:91,016,745...91,025,567
Ensembl chr16:91,022,345...91,025,565

Opa1

OPA1, mitochondrial dynamin like GTPase

PMID:17314202 PMID:17428816 PMID:23250881

NCBI chr16:29,398,099...29,481,924
Ensembl chr16:29,398,152...29,473,702

optic atrophy 3

NCBI chr 7:18,962,314...18,980,742
Ensembl chr 7:18,962,259...18,990,468

Otx1

orthodenticle homeobox 1

PMID:9077465

NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897

orthodenticle homeobox 2

PMID:9077465 PMID:24234651

NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276

Pax2

paired box 2

PMID:8943028 PMID:8951055 PMID:11929848 PMID:20221250

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

Pax6

paired box 6

PMID:7649798 PMID:20538882

NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709

Pomgnt1

protein O-linked mannose beta 1,2-N-acetylglucosaminyltransferase

PMID:16458488

NCBI chr 4:116,007,700...116,017,041
Ensembl chr 4:115,981,037...116,017,046

POU domain, class 4, transcription factor 2

PMID:11807038 PMID:15647317 PMID:15797020 PMID:19109949

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

Prkab1

protein kinase, AMP-activated, beta 1 non-catalytic subunit

PMID:19217427

NCBI chr 5:116,151,654...116,162,449
Ensembl chr 5:116,151,645...116,162,567

Pten

phosphatase and tensin homolog

PMID:20592216

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

peroxidasin

NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657

Rax

retina and anterior neural fold homeobox

PMID:925203

NCBI chr18:66,067,710...66,072,160
Ensembl chr18:66,061,348...66,072,858

Rbl1

RB transcriptional corepressor like 1

PMID:17608565

NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454

ribosomal protein L24

PMID:9331275

NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798

Scn1b

sodium channel, voltage-gated, type I, beta

PMID:15102918

NCBI chr 7:30,815,949...30,826,436
Ensembl chr 7:30,815,949...30,826,428

Scyl1

SCY1-like 1 (S. cerevisiae)

PMID:17571074

NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447

sonic hedgehog

NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254

Slc17a5

solute carrier family 17 (anion/sugar transporter), member 5

PMID:20007460

NCBI chr 9:78,443,769...78,495,346
Ensembl chr 9:78,443,770...78,495,323

Slc1a3

solute carrier family 1 (glial high affinity glutamate transporter), member 3

NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248

Slc4a3

solute carrier family 4 (anion exchanger), member 3

PMID:17786210

NCBI chr 1:75,522,688...75,536,075
Ensembl chr 1:75,522,910...75,538,816

Sod2

superoxide dismutase 2, mitochondrial

PMID:11527927

NCBI chr17:13,226,726...13,237,006
Ensembl chr17:13,225,733...13,258,950

Sptbn4

spectrin beta, non-erythrocytic 4

PMID:15381686

NCBI chr 7:27,055,808...27,147,128
Ensembl chr 7:27,055,808...27,147,111

Srsf1

serine and arginine-rich splicing factor 1

PMID:18987029

NCBI chr11:87,937,325...87,944,583
Ensembl chr11:87,938,199...87,944,581

signal sequence receptor, beta

NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726

Tkfc

triokinase, FMN cyclase

NCBI chr19:10,565,153...10,583,257
Ensembl chr19:10,565,155...10,583,018

transformation related protein 53

PMID:10393064

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

Vax1

ventral anterior homeobox 1

PMID:10601035 PMID:10601036 PMID:15905411

NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488

Vax2

ventral anterior homeobox 2

PMID:15905411

NCBI chr 6:83,688,221...83,715,295
Ensembl chr 6:83,688,246...83,715,295

Vsx2

visual system homeobox 2

PMID:13994395

NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231

abnormal trigeminal nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rho GTPase activating protein 35

NCBI chr 7:16,228,398...16,349,313
Ensembl chr 7:16,227,644...16,348,918

brain derived neurotrophic factor

PMID:10995552

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

ceramide synthase 2

NCBI chr 3:95,222,077...95,230,910
Ensembl chr 3:95,222,102...95,230,910

Cyp26a1

cytochrome P450, family 26, subfamily a, polypeptide 1

PMID:11157778

NCBI chr19:37,686,186...37,689,984
Ensembl chr19:37,686,246...37,689,984

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

endothelin receptor type A

PMID:9449664

NCBI chr 8:78,389,658...78,451,081
Ensembl chr 8:78,389,660...78,451,093

early growth response 2

PMID:7903221 PMID:9102308

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

erb-b2 receptor tyrosine kinase 2

PMID:7477377

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

erb-b2 receptor tyrosine kinase 3

NCBI chr10:128,403,392...128,425,504
Ensembl chr10:128,403,392...128,425,521

erb-b2 receptor tyrosine kinase 4

NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218

Fgf8

fibroblast growth factor 8

PMID:10601039

NCBI chr19:45,724,930...45,731,380
Ensembl chr19:45,725,237...45,731,354

Gdf15

growth differentiation factor 15

PMID:19864576

NCBI chr 8:71,082,043...71,085,106
Ensembl chr 8:71,082,043...71,085,106

Gfra1

glial cell line derived neurotrophic factor family receptor alpha 1

PMID:9697851

NCBI chr19:58,224,013...58,444,387
Ensembl chr19:58,224,036...58,444,341

Grin1

glutamate receptor, ionotropic, NMDA1 (zeta 1)

PMID:12657691

NCBI chr 2:25,181,189...25,209,199
Ensembl chr 2:25,181,193...25,209,199

gene trap ROSA 26, Philippe Soriano

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

LIM domain only 4

NCBI chr 3:143,894,291...143,911,016
Ensembl chr 3:143,894,291...143,910,981

multiple EGF-like-domains 8

NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342

Meis homeobox 2

NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320

neogenin

NCBI chr 9:58,781,962...58,943,926
Ensembl chr 9:58,781,970...58,943,724

neurogenin 1

NCBI chr13:56,398,291...56,399,993
Ensembl chr13:56,398,291...56,399,976

Nfatc2

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 2

PMID:12787506

NCBI chr 2:168,318,330...168,443,900
Ensembl chr 2:168,318,330...168,443,577

Nfatc3

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 3

PMID:12787506

NCBI chr 8:106,785,450...106,857,169
Ensembl chr 8:106,785,472...106,857,169

Nfatc4

nuclear factor of activated T cells, cytoplasmic, calcineurin dependent 4

PMID:12787506

NCBI chr14:56,062,252...56,071,400
Ensembl chr14:56,060,601...56,071,400

Npr2

natriuretic peptide receptor 2

PMID:24431432

NCBI chr 4:43,629,015...43,651,437
Ensembl chr 4:43,631,935...43,651,244

Nrg1

neuregulin 1

PMID:9362461 PMID:9789034

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

Nrp1

neuropilin 1

PMID:12852851 PMID:15545635 PMID:15814794

NCBI chr 8:129,085,072...129,231,957
Ensembl chr 8:129,085,085...129,229,844

neuropilin 2

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

neurotrophin 5

NCBI chr 7:45,063,119...45,066,603
Ensembl chr 7:45,063,119...45,066,603

orthodenticle homeobox 2

PMID:7590242

NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276

Plxna3

plexin A3

PMID:11683995 PMID:15721238

NCBI chr X:73,372,644...73,388,295
Ensembl chr X:73,372,672...73,388,295

Plxna4

plexin A4

PMID:15721238 PMID:15814794

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

Pou4f1

POU domain, class 4, transcription factor 1

PMID:11160433

NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435

Pten

phosphatase and tensin homolog

PMID:23319880

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

Rela

v-rel reticuloendotheliosis viral oncogene homolog A (avian)

PMID:10433815

NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158

Sema3a

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

PMID:9331345

NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

T-box 1

PMID:11971873 PMID:15652707

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

Tcof1

treacle ribosome biogenesis factor 1

PMID:10888597

NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043

transcription factor AP-2, alpha

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

Trp53bp2

transformation related protein 53 binding protein 2

PMID:27447114

NCBI chr 1:182,236,732...182,290,001
Ensembl chr 1:182,236,737...182,289,997

tubulin, beta 3 class III

NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754

abnormal trochlear nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

engrailed 1

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

Fgfr1

fibroblast growth factor receptor 1

PMID:12682014

NCBI chr 8:26,008,808...26,067,819
Ensembl chr 8:26,003,670...26,065,734

Nr6a1

nuclear receptor subfamily 6, group A, member 1

PMID:16530751

NCBI chr 2:38,613,381...38,816,473
Ensembl chr 2:38,613,382...38,817,700

Otx1

orthodenticle homeobox 1

PMID:9077465

NCBI chr11:21,944,764...21,954,044
Ensembl chr11:21,944,764...21,952,897

orthodenticle homeobox 2

PMID:7590242 PMID:9077465

NCBI chr14:48,894,238...48,905,101
Ensembl chr14:48,895,134...48,911,276

paired box 3

NCBI chr 1:78,077,904...78,173,773
Ensembl chr 1:78,077,904...78,173,771

Phox2a

paired-like homeobox 2a

PMID:16319924

NCBI chr 7:101,467,520...101,471,933
Ensembl chr 7:101,467,520...101,471,933

plexin A3

NCBI chr X:73,372,644...73,388,295
Ensembl chr X:73,372,672...73,388,295

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

Rbfox2

RNA binding protein, fox-1 homolog (C. elegans) 2

PMID:31241461

NCBI chr15:76,963,190...77,193,058
Ensembl chr15:76,963,190...77,191,204

tubulin, beta 3 class III

NCBI chr 8:124,138,292...124,148,754
Ensembl chr 8:124,138,163...124,148,754

Unc5c

unc-5 netrin receptor C

PMID:16723533

NCBI chr 3:141,171,360...141,540,685
Ensembl chr 3:141,170,977...141,540,685

abnormal vagus nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

Cln8

CLN8 transmembrane ER and ERGIC protein

PMID:3783318

NCBI chr 8:14,931,335...14,951,720
Ensembl chr 8:14,931,335...14,951,720

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

dystonin

NCBI chr 1:33,946,969...34,347,743
Ensembl chr 1:33,947,306...34,347,742

E2F transcription factor 1

NCBI chr 2:154,401,320...154,411,812
Ensembl chr 2:154,401,327...154,411,812

early growth response 2

PMID:7903221

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

erb-b2 receptor tyrosine kinase 2

PMID:7477377 PMID:9362461

NCBI chr11:98,303,310...98,328,542
Ensembl chr11:98,303,296...98,328,542

fibulin 1

NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736

Grb2

growth factor receptor bound protein 2

PMID:11369229

NCBI chr11:115,534,871...115,599,423
Ensembl chr11:115,534,871...115,599,423

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

homeobox A1

PMID:1346922 PMID:1680563 PMID:15367676

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

homeobox A2

NCBI chr 6:52,139,389...52,141,808
Ensembl chr 6:52,139,397...52,141,811

Hprt1

hypoxanthine phosphoribosyltransferase 1

PMID:25975378

NCBI chr X:52,076,955...52,110,537
Ensembl chr X:52,077,014...52,110,536

multiple EGF-like-domains 8

NCBI chr 7:25,016,589...25,065,342
Ensembl chr 7:25,016,589...25,065,342

mesoderm posterior 1

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

NK2 homeobox 9

NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

paired-like homeobox 2b

PMID:10704382 PMID:25975378

NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644

plexin A4

NCBI chr 6:32,121,478...32,565,127
Ensembl chr 6:32,121,203...32,565,127

Sema3a

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A

PMID:9331345

NCBI chr 5:13,174,789...13,653,453
Ensembl chr 5:13,175,381...13,652,533

Slc5a3

solute carrier family 5 (inositol transporters), member 3

PMID:16174787

NCBI chr16:91,855,210...91,884,361
Ensembl chr16:91,855,210...91,884,361

small nuclear ribonucleoprotein B

NCBI chr 2:130,013,560...130,031,184
Ensembl chr 2:130,013,555...130,021,323

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

abnormal vestibular nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

brain derived neurotrophic factor

PMID:8139657

NCBI chr 2:109,505,045...109,557,388
Ensembl chr 2:109,505,045...109,557,352

chromodomain helicase DNA binding protein 7

PMID:17701983

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

neurotrophic tyrosine kinase, receptor, type 2

NCBI chr13:58,954,286...59,281,784
Ensembl chr13:58,954,383...59,281,784

T-box 10

NCBI chr19:4,042,752...4,049,512
Ensembl chr19:4,042,752...4,049,512

abnormal vestibulocochlear nerve morphology

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

erb-b2 receptor tyrosine kinase 4

NCBI chr 1:68,071,063...69,147,756
Ensembl chr 1:68,071,345...69,147,218

Eya1

EYA transcriptional coactivator and phosphatase 1

PMID:10471511

NCBI chr 1:14,239,177...14,381,259
Ensembl chr 1:14,239,178...14,380,459

gene trap ROSA 26, Philippe Soriano

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

Meis homeobox 2

NCBI chr 2:115,691,745...115,897,925
Ensembl chr 2:115,693,545...115,896,320

neuropilin 1

NCBI chr 8:129,085,072...129,231,957
Ensembl chr 8:129,085,085...129,229,844

neurotrophic tyrosine kinase, receptor, type 2

NCBI chr13:58,954,286...59,281,784
Ensembl chr13:58,954,383...59,281,784

Otulin

OTU deubiquitinase with linear linkage specificity

PMID:16354937

NCBI chr15:27,606,005...27,630,793
Ensembl chr15:27,542,721...27,630,779

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

transcription factor AP-2, alpha

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

absent abducens nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

D930028M14Rik

RIKEN cDNA D930028M14 gene

NCBI chr 7:24,851,882...24,856,055
Ensembl chr 7:24,851,846...24,856,054

MAF bZIP transcription factor B

NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Trp53bp2

transformation related protein 53 binding protein 2

PMID:27447114

NCBI chr 1:182,236,732...182,290,001
Ensembl chr 1:182,236,737...182,289,997

absent cochlear nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

homeobox A1

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

paired box 2

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

absent facial nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

homeobox A1

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

homeobox B1

NCBI chr11:96,256,572...96,259,080
Ensembl chr11:96,256,578...96,259,082

homeobox B2

NCBI chr11:96,242,458...96,244,846
Ensembl chr11:96,241,351...96,244,838

paired-like homeobox 2b

PMID:10704382

NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644

absent glossopharyngeal nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Tcof1

treacle ribosome biogenesis factor 1

PMID:10888597

NCBI chr18:60,946,827...60,982,055
Ensembl chr18:60,946,827...60,982,043

absent hypoglossal nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

4933434E20Rik

RIKEN cDNA 4933434E20 gene

NCBI chr 3:89,958,941...89,969,754
Ensembl chr 3:89,958,943...89,970,648
Ensembl chr 3:89,958,943...89,970,648

Actn4

actinin alpha 4

NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765

Atg16l1

autophagy related 16 like 1

NCBI chr 1:87,683,730...87,720,150
Ensembl chr 1:87,683,592...87,720,150

Capza2

capping actin protein of muscle Z-line subunit alpha 2

NCBI chr 6:17,637,009...17,666,971
Ensembl chr 6:17,636,233...17,666,971

Cbx6

chromobox 6

NCBI chr15:79,708,099...79,718,534
Ensembl chr15:79,708,097...79,718,889

Chtop

chromatin target of PRMT1

NCBI chr 3:90,405,846...90,417,400
Ensembl chr 3:90,406,263...90,416,805

Cmip

c-Maf inducing protein

NCBI chr 8:117,983,758...118,188,245
Ensembl chr 8:117,983,803...118,186,169

D930028M14Rik

RIKEN cDNA D930028M14 gene

NCBI chr 7:24,851,882...24,856,055
Ensembl chr 7:24,851,846...24,856,054

Dbn1

drebrin 1

NCBI chr13:55,621,241...55,635,959
Ensembl chr13:55,621,242...55,635,924

H13

histocompatibility 13

NCBI chr 2:152,511,292...152,550,590
Ensembl chr 2:152,511,381...152,550,590

Hmgxb3

HMG box domain containing 3

NCBI chr18:61,264,349...61,310,122
Ensembl chr18:61,264,349...61,310,122

Kifbp

kinesin family binding protein

NCBI chr10:62,394,249...62,414,846
Ensembl chr10:62,374,405...62,414,236

NOL1/NOP2/Sun domain family member 2

NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899

Prrc2b

proline-rich coiled-coil 2B

NCBI chr 2:32,041,002...32,124,549
Ensembl chr 2:32,041,094...32,124,549

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

Sh3pxd2a

SH3 and PX domains 2A

NCBI chr19:47,248,613...47,453,053
Ensembl chr19:47,248,613...47,452,840

Unk

unkempt family zinc finger

NCBI chr11:115,921,117...115,952,040
Ensembl chr11:115,921,148...115,952,040

absent mandibular nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Crim1

cysteine rich transmembrane BMP regulator 1

NCBI chr17:78,507,602...78,684,021
Ensembl chr17:78,507,677...78,684,021

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

absent oculomotor nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

B9 protein domain 2

NCBI chr 7:25,380,205...25,385,987
Ensembl chr 7:25,380,205...25,385,983

catenin beta 1

NCBI chr 9:120,762,466...120,789,573
Ensembl chr 9:120,758,282...120,789,573

engrailed 1

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Hes1

hes family bHLH transcription factor 1

NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614

Hes3

hes family bHLH transcription factor 3

NCBI chr 4:152,369,707...152,376,133
Ensembl chr 4:152,370,429...152,376,119

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

transcription factor AP-2, alpha

PMID:8622766

NCBI chr13:40,867,278...40,891,715
Ensembl chr13:40,868,778...40,891,852

absent olfactory nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Atp11a

ATPase, class VI, type 11A

NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728

Ehbp1l1

EH domain binding protein 1-like 1

NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

absent optic chiasm

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

paired box 2

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Rpgrip1-like

NCBI chr 8:91,943,658...92,039,919
Ensembl chr 8:91,943,658...92,039,890

Smg9

SMG9 nonsense mediated mRNA decay factor

NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203

Vax1

ventral anterior homeobox 1

PMID:10601036

NCBI chr19:59,152,912...59,158,829
Ensembl chr19:59,154,619...59,158,488

Vsx2

visual system homeobox 2

PMID:13994395

NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231

absent optic disk

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mterf4

mitochondrial transcription termination factor 4

PMID:21531335

NCBI chr 1:93,228,927...93,233,601
Ensembl chr 1:93,226,933...93,233,637

Nr2f1

nuclear receptor subfamily 2, group F, member 1

PMID:20147377

NCBI chr13:78,337,090...78,346,954
Ensembl chr13:78,337,092...78,347,876

Nr2f2

nuclear receptor subfamily 2, group F, member 2

PMID:20147377

NCBI chr 7:70,001,694...70,016,494
Ensembl chr 7:70,001,692...70,016,483

Tfb1m

transcription factor B1, mitochondrial

PMID:19356719

NCBI chr17:3,569,119...3,608,064
Ensembl chr17:3,569,531...3,608,056

absent optic nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aifm1

apoptosis-inducing factor, mitochondrion-associated 1

PMID:18791645

NCBI chr X:47,563,821...47,602,440
Ensembl chr X:47,563,821...47,602,440

Angptl4

angiopoietin-like 4

NCBI chr17:33,993,874...34,000,549
Ensembl chr17:33,992,724...34,000,804

Atg9b

autophagy related 9B

NCBI chr 5:24,589,179...24,597,141
Ensembl chr 5:24,589,179...24,597,141

atonal bHLH transcription factor 7

PMID:11493566 PMID:18787067 PMID:22609278 PMID:23481413

NCBI chr10:62,935,564...62,937,059
Ensembl chr10:62,935,430...62,937,058

Bmp4

bone morphogenetic protein 4

PMID:11722794

NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126

Bnip3

BCL2/adenovirus E1B interacting protein 3

NCBI chr 7:138,492,565...138,511,235
Ensembl chr 7:138,492,565...138,511,248

Cacna1f

calcium channel, voltage-dependent, alpha 1F subunit

NCBI chr X:7,473,342...7,501,435
Ensembl chr X:7,473,322...7,501,435

Ccdc25

coiled-coil domain containing 25

NCBI chr14:66,074,751...66,104,053
Ensembl chr14:66,074,751...66,104,056

Crbn

cereblon

NCBI chr 6:106,755,205...106,777,060
Ensembl chr 6:106,757,162...106,777,038

Dsc3

desmocollin 3

NCBI chr18:20,093,987...20,135,465
Ensembl chr18:20,093,987...20,135,408

Gjb1

gap junction protein, beta 1

PMID:12843301

NCBI chr X:100,419,982...100,429,235
Ensembl chr X:100,419,984...100,429,235

Gjc2

gap junction protein, gamma 2

PMID:12843301

NCBI chr11:59,066,390...59,074,039
Ensembl chr11:59,066,394...59,074,039

Gli3

GLI-Kruppel family member GLI3

PMID:12112872

NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611

Gpx7

glutathione peroxidase 7

NCBI chr 4:108,257,414...108,263,910
Ensembl chr 4:108,257,587...108,264,158

gene trap ROSA 26, Philippe Soriano

PMID:16203745

NCBI chr 6:113,044,389...113,054,205
Ensembl chr 6:113,043,843...113,054,294

H2A.Z histone variant 2

PMID:16203745

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Krit1

KRIT1, ankyrin repeat containing

NCBI chr 5:3,853,156...3,894,515
Ensembl chr 5:3,853,184...3,895,564

Mitf

melanogenesis associated transcription factor

PMID:4963367

NCBI chr 6:97,783,966...97,998,321
Ensembl chr 6:97,784,013...97,998,310

Npas2

neuronal PAS domain protein 2

NCBI chr 1:39,233,013...39,402,321
Ensembl chr 1:39,232,812...39,402,317

Phldb2

pleckstrin homology like domain, family B, member 2

NCBI chr16:45,566,593...45,773,961
Ensembl chr16:45,566,606...45,773,961

Pitx2

paired-like homeodomain transcription factor 2

PMID:16203745

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

Prepl

prolyl endopeptidase-like

NCBI chr17:85,370,122...85,397,702
Ensembl chr17:85,370,898...85,397,669

Rbm20

RNA binding motif protein 20

NCBI chr19:53,649,422...53,855,514
Ensembl chr19:53,665,737...53,855,511

ribosomal protein L24

PMID:9331275

NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798

Six6

sine oculis-related homeobox 6

PMID:12130660

NCBI chr12:72,986,656...72,991,673
Ensembl chr12:72,986,666...72,991,673

Slx4

SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)

PMID:21240276

NCBI chr16:3,796,969...3,821,708
Ensembl chr16:3,796,969...3,821,634

Smoc1

SPARC related modular calcium binding 1

PMID:21194678

NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188

Sox11

SRY (sex determining region Y)-box 11

NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573

Sox4

SRY (sex determining region Y)-box 4

NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696

Tfam

transcription factor A, mitochondrial

PMID:9500544

NCBI chr10:71,061,298...71,074,157
Ensembl chr10:71,061,294...71,074,110

Timp4

tissue inhibitor of metalloproteinase 4

NCBI chr 6:115,221,405...115,229,166
Ensembl chr 6:115,218,853...115,229,166

Tkfc

triokinase, FMN cyclase

NCBI chr19:10,565,153...10,583,257
Ensembl chr19:10,565,155...10,583,018

transformation related protein 53

PMID:21411755

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

Vsx2

visual system homeobox 2

PMID:827941 PMID:13994395

NCBI chr12:84,616,602...84,642,231
Ensembl chr12:84,616,536...84,642,231

absent trigeminal nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gbx2

gastrulation brain homeobox 2

PMID:15996652

NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901

neuregulin 1

NCBI chr 8:32,299,493...33,381,858
Ensembl chr 8:32,304,579...33,374,825
Ensembl chr 8:32,304,579...33,374,825

paired-like homeobox 2b

PMID:10704382

NCBI chr 5:67,251,740...67,256,469
Ensembl chr 5:67,251,742...67,256,644

absent trochlear nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

engrailed 1

NCBI chr 1:120,530,246...120,535,719
Ensembl chr 1:120,530,147...120,535,721

Hes1

hes family bHLH transcription factor 1

NCBI chr16:29,883,259...29,886,614
Ensembl chr16:29,883,202...29,886,614

Hes3

hes family bHLH transcription factor 3

NCBI chr 4:152,369,707...152,376,133
Ensembl chr 4:152,370,429...152,376,119

neuropilin 2

NCBI chr 1:62,742,476...62,857,851
Ensembl chr 1:62,742,444...62,857,854

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

Sema3f

sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F

PMID:12890759

NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674

absent vagus nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

bromodomain containing 2

NCBI chr17:34,330,993...34,341,581
Ensembl chr17:34,330,997...34,341,608

absent vestibular nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

homeobox A1

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

absent vestibulocochlear nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

homeobox A1

PMID:1346922 PMID:1680563

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

decreased optic chiasm size

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

atonal bHLH transcription factor 7

PMID:11156601

NCBI chr10:62,935,564...62,937,059
Ensembl chr10:62,935,430...62,937,058

Vti1a

vesicle transport through interaction with t-SNAREs 1A

PMID:21262811

NCBI chr19:55,304,489...55,615,893
Ensembl chr19:55,304,727...55,615,741

Vti1b

vesicle transport through interaction with t-SNAREs 1B

PMID:21262811

NCBI chr12:79,202,791...79,219,428
Ensembl chr12:79,202,791...79,219,441

enlarged optic nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Mmp14

matrix metallopeptidase 14 (membrane-inserted)

NCBI chr14:54,669,055...54,679,913
Ensembl chr14:54,669,069...54,682,821

fusion of glossopharyngeal and vagus nerve

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Aldh1a2

aldehyde dehydrogenase family 1, subfamily A2

PMID:12563036

NCBI chr 9:71,123,071...71,203,525
Ensembl chr 9:71,123,071...71,203,525

chromodomain helicase DNA binding protein 7

PMID:19855134

NCBI chr 4:8,690,345...8,868,449
Ensembl chr 4:8,690,406...8,867,659

early growth response 2

PMID:8224839 PMID:19244508

NCBI chr10:67,370,334...67,383,354
Ensembl chr10:67,371,305...67,378,018

fibulin 1

NCBI chr15:85,090,150...85,170,495
Ensembl chr15:85,090,150...85,170,736

Gbx2

gastrulation brain homeobox 2

PMID:15996652

NCBI chr 1:89,855,684...89,858,898
Ensembl chr 1:89,855,678...89,858,901

homeobox A1

NCBI chr 6:52,132,573...52,135,299
Ensembl chr 6:52,132,570...52,135,297

Hoxa3

homeobox A3

PMID:9441667 PMID:20498049

NCBI chr 6:52,146,039...52,190,316
Ensembl chr 6:52,146,042...52,190,316

homeobox B3

NCBI chr11:96,197,927...96,238,756
Ensembl chr11:96,214,152...96,238,756

homeobox D3

NCBI chr 2:74,542,337...74,578,615
Ensembl chr 2:74,542,271...74,578,786

LIM domain only 4

NCBI chr 3:143,894,291...143,911,016
Ensembl chr 3:143,894,291...143,910,981

MAF bZIP transcription factor B

NCBI chr 2:160,205,597...160,208,985
Ensembl chr 2:160,205,623...160,208,985

NK2 homeobox 9

NCBI chr12:56,658,174...56,660,354
Ensembl chr12:56,658,174...56,660,069

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

glossopharyngeal nerve hypoplasia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Kmt2a

lysine (K)-specific methyltransferase 2A

PMID:23934123

NCBI chr 9:44,714,652...44,793,492
Ensembl chr 9:44,714,652...44,792,594

mesoderm posterior 1

NCBI chr 7:79,441,989...79,443,338
Ensembl chr 7:79,441,989...79,443,536

Tasp1

taspase, threonine aspartase 1

PMID:23934123

NCBI chr 2:139,675,399...139,908,767
Ensembl chr 2:139,675,400...139,908,725

T-box 1

NCBI chr16:18,399,729...18,409,412
Ensembl chr16:18,399,729...18,409,421

increased optic chiasm size

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gap43

growth associated protein 43

PMID:7859286

NCBI chr16:42,068,915...42,161,014
Ensembl chr16:42,068,805...42,161,014

Mapk8ip3

mitogen-activated protein kinase 8 interacting protein 3

PMID:15572149

NCBI chr17:25,116,480...25,155,951
Ensembl chr17:25,111,127...25,155,951

neurofibromin 1

NCBI chr11:79,223,541...79,472,435
Ensembl chr11:79,230,519...79,472,438

increased trigeminal neuroma incidence

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Actn4

actinin alpha 4

NCBI chr 7:28,592,673...28,661,799
Ensembl chr 7:28,592,673...28,661,765

Adamts3

ADAM metallopeptidase with thrombospondin type 1 motif 3

NCBI chr 5:89,821,700...90,031,521
Ensembl chr 5:89,824,946...90,031,193

Atp11a

ATPase, class VI, type 11A

NCBI chr 8:12,807,016...12,918,728
Ensembl chr 8:12,807,014...12,918,728

Capza2

capping actin protein of muscle Z-line subunit alpha 2

NCBI chr 6:17,637,009...17,666,971
Ensembl chr 6:17,636,233...17,666,971

Col4a2

collagen, type IV, alpha 2

NCBI chr 8:11,362,805...11,499,287
Ensembl chr 8:11,362,805...11,499,287

Ehbp1l1

EH domain binding protein 1-like 1

NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345

Gas2l2

growth arrest-specific 2 like 2

NCBI chr11:83,312,461...83,320,347
Ensembl chr11:83,312,728...83,320,281

Kifbp

kinesin family binding protein

NCBI chr10:62,394,249...62,414,846
Ensembl chr10:62,374,405...62,414,236

microrchidia 2A

NCBI chr11:3,599,132...3,640,477
Ensembl chr11:3,599,191...3,640,477

NOL1/NOP2/Sun domain family member 2

NCBI chr13:69,760,135...69,783,899
Ensembl chr13:69,681,865...69,783,899

Polb

polymerase (DNA directed), beta

NCBI chr 8:23,118,135...23,143,482
Ensembl chr 8:23,118,142...23,143,451

Prmt7

protein arginine N-methyltransferase 7

NCBI chr 8:106,937,686...106,978,326
Ensembl chr 8:106,937,568...106,979,426

phosphoserine phosphatase

NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513

signal sequence receptor, beta

NCBI chr 3:88,486,915...88,495,727
Ensembl chr 3:88,483,183...88,495,726

Xpnpep1

X-prolyl aminopeptidase (aminopeptidase P) 1, soluble

NCBI chr19:52,919,710...53,027,093
Ensembl chr19:52,920,357...53,028,645

optic disk coloboma

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

paired box 2

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

Rarb

retinoic acid receptor, beta

NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924

Rarg

retinoic acid receptor, gamma

NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952

Rxra

retinoid X receptor alpha

PMID:19255444

NCBI chr 2:27,566,457...27,653,331
Ensembl chr 2:27,566,452...27,652,969

Rxrb

retinoid X receptor beta

PMID:19255444

NCBI chr17:34,250,786...34,257,377
Ensembl chr17:34,250,786...34,257,373

optic nerve atrophy

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Bbs4

Bardet-Biedl syndrome 4

PMID:16794820

NCBI chr 9:59,229,249...59,260,791
Ensembl chr 9:59,229,273...59,260,791

Elp1

elongator complex protein 1

PMID:22922231

NCBI chr 4:56,746,547...56,802,565
Ensembl chr 4:56,749,680...56,802,331

Gpnmb

glycoprotein (transmembrane) nmb

PMID:10192392

NCBI chr 6:49,013,449...49,044,413
Ensembl chr 6:49,013,480...49,047,863

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Mettl23

methyltransferase like 23

PMID:36099048

NCBI chr11:116,734,341...116,740,566
Ensembl chr11:116,734,104...116,745,089

Nampt

nicotinamide phosphoribosyltransferase

PMID:27681422

NCBI chr12:32,870,334...32,903,368
Ensembl chr12:32,869,544...32,903,348

Ndufs4

NADH:ubiquinone oxidoreductase core subunit S4

PMID:20534480

NCBI chr13:114,424,331...114,524,630
Ensembl chr13:114,424,331...114,524,794

POU domain, class 4, transcription factor 2

PMID:19109949

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

serine protease 56

NCBI chr 1:87,111,002...87,116,127
Ensembl chr 1:87,111,035...87,116,127

Pten

phosphatase and tensin homolog

PMID:21576358

NCBI chr19:32,734,977...32,803,560
Ensembl chr19:32,734,897...32,803,560

Ptpn11

protein tyrosine phosphatase, non-receptor type 11

PMID:21576358

NCBI chr 5:121,268,596...121,329,460
Ensembl chr 5:121,268,596...121,329,460

ribosomal protein L24

PMID:8589526

NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798

Rybp

RING1 and YY1 binding protein

PMID:17470285

NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446

Sh3pxd2b

SH3 and PX domains 2B

PMID:21282566

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

Slc25a46

solute carrier family 25, member 46

PMID:28376086

NCBI chr18:31,713,217...31,743,585
Ensembl chr18:31,689,164...31,742,964

Taco1

translational activator of mitochondrially encoded cytochrome c oxidase I

PMID:27319982

NCBI chr11:105,956,885...105,964,861
Ensembl chr11:105,956,887...105,964,438

transcription factor AP-2 beta

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

Tyrp1

tyrosinase-related protein 1

PMID:10192392

NCBI chr 4:80,752,360...80,769,973
Ensembl chr 4:80,752,360...80,769,956

optic nerve coloboma

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

paired box 2

NCBI chr19:44,735,040...44,826,708
Ensembl chr19:44,744,484...44,826,310

Rara

retinoic acid receptor, alpha

NCBI chr11:98,818,626...98,865,768
Ensembl chr11:98,818,644...98,865,768

Rarb

retinoic acid receptor, beta

NCBI chr14:5,387,365...6,038,924
Ensembl chr14:5,650,540...6,038,924

Rarg

retinoic acid receptor, gamma

NCBI chr15:102,143,373...102,165,891
Ensembl chr15:102,143,373...102,165,952

ribosomal protein L24

PMID:9331275 PMID:10681427

NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798

Rybp

RING1 and YY1 binding protein

PMID:17470285

NCBI chr 6:100,205,526...100,264,319
Ensembl chr 6:100,205,526...100,264,446

optic nerve cupping

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

Pitx2

paired-like homeodomain transcription factor 2

NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240

Sh3pxd2b

SH3 and PX domains 2B

PMID:21282566

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

Slc1a3

solute carrier family 1 (glial high affinity glutamate transporter), member 3

NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248

transcription factor AP-2 beta

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

vav 2 oncogene

NCBI chr 2:27,152,116...27,317,620
Ensembl chr 2:27,152,116...27,317,045

vav 3 oncogene

NCBI chr 3:109,247,757...109,593,010
Ensembl chr 3:109,247,969...109,593,014

optic nerve degeneration

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ankyrin 2, brain

NCBI chr 3:126,715,256...127,293,996
Ensembl chr 3:126,715,261...127,292,999

Atp8a2

ATPase, aminophospholipid transporter-like, class I, type 8A, member 2

PMID:1382814

NCBI chr14:59,884,980...60,324,363
Ensembl chr14:59,875,989...60,434,628

Clcn7

chloride channel, voltage-sensitive 7

PMID:11207362

NCBI chr17:25,352,353...25,381,077
Ensembl chr17:25,352,365...25,381,078

H2A.Z histone variant 2

NCBI chr11:6,377,226...6,394,511
Ensembl chr11:6,377,229...6,394,443

ISL1 transcription factor, LIM/homeodomain

PMID:18460603

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Nr1h2

nuclear receptor subfamily 1, group H, member 2

PMID:31371497

NCBI chr 7:44,199,040...44,204,928
Ensembl chr 7:44,199,040...44,203,375

Nr2e1

nuclear receptor subfamily 2, group E, member 1

PMID:10706625

NCBI chr10:42,437,959...42,459,721
Ensembl chr10:42,437,959...42,459,628

paired box 6

NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709

POU domain, class 4, transcription factor 2

PMID:19109949

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

Rab18

RAB18, member RAS oncogene family

PMID:25779931

NCBI chr18:6,765,167...6,791,606
Ensembl chr18:6,733,905...6,794,429

Sh3pxd2b

SH3 and PX domains 2B

PMID:21282566

NCBI chr11:32,297,777...32,378,189
Ensembl chr11:32,297,820...32,378,173

Slc1a1

solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1

NCBI chr19:28,812,535...28,891,360
Ensembl chr19:28,812,449...28,891,360

Slc1a3

solute carrier family 1 (glial high affinity glutamate transporter), member 3

NCBI chr15:8,663,608...8,742,648
Ensembl chr15:8,663,608...8,740,248

Sptssb

serine palmitoyltransferase, small subunit B

PMID:26438849

NCBI chr 3:69,726,871...69,768,697
Ensembl chr 3:69,726,875...69,767,273

Tdrd7

tudor domain containing 7

PMID:21670278

NCBI chr 4:45,965,335...46,034,766
Ensembl chr 4:45,965,334...46,034,761

transcription factor AP-2 beta

NCBI chr 1:19,279,132...19,309,071
Ensembl chr 1:19,279,138...19,308,800

transformation related protein 53

PMID:10393064

NCBI chr11:69,471,174...69,482,699
Ensembl chr11:69,471,185...69,482,699

optic nerve hypoplasia

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

atonal bHLH transcription factor 7

PMID:18321480 PMID:18787067

NCBI chr10:62,935,564...62,937,059
Ensembl chr10:62,935,430...62,937,058

Col4a1

collagen, type IV, alpha 1

PMID:21625620

NCBI chr 8:11,248,423...11,362,889
Ensembl chr 8:11,248,423...11,362,826

Fkrp

fukutin related protein

PMID:20675713

NCBI chr 7:16,543,192...16,550,657
Ensembl chr 7:16,543,171...16,550,657

Gnpat

glyceronephosphate O-acyltransferase

PMID:12874108

NCBI chr 8:125,589,772...125,616,796
Ensembl chr 8:125,589,772...125,616,796

ISL1 transcription factor, LIM/homeodomain

PMID:18434421

NCBI chr13:116,434,806...116,446,224
Ensembl chr13:116,434,817...116,446,225

Kif14

kinesin family member 14

PMID:23308235

NCBI chr 1:136,394,044...136,483,676
Ensembl chr 1:136,394,081...136,459,249

paired box 6

NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709

POU domain, class 4, transcription factor 2

PMID:8632990 PMID:18434421

NCBI chr 8:79,159,638...79,163,276
Ensembl chr 8:79,159,639...79,163,274

Prkab1

protein kinase, AMP-activated, beta 1 non-catalytic subunit

PMID:19217427

NCBI chr 5:116,151,654...116,162,449
Ensembl chr 5:116,151,645...116,162,567

peroxidasin

NCBI chr12:29,986,641...30,067,657
Ensembl chr12:29,987,607...30,067,657

ribosomal protein L24

PMID:9331275

NCBI chr16:55,786,638...55,791,800
Ensembl chr16:55,786,638...55,791,798

Rundc1

RUN domain containing 1

NCBI chr11:101,315,910...101,326,492
Ensembl chr11:101,315,911...101,326,499

Smoc1

SPARC related modular calcium binding 1

PMID:21194678 PMID:21750680

NCBI chr12:81,073,582...81,233,188
Ensembl chr12:81,073,582...81,233,188

Sox11

SRY (sex determining region Y)-box 11

NCBI chr12:27,384,267...27,392,717
Ensembl chr12:27,384,263...27,392,573

Sox2

SRY (sex determining region Y)-box 2

PMID:16651659

NCBI chr 3:34,704,144...34,706,610
Ensembl chr 3:34,704,554...34,706,610

Sox4

SRY (sex determining region Y)-box 4

NCBI chr13:29,132,902...29,137,682
Ensembl chr13:29,132,902...29,137,696

Tmem107

transmembrane protein 107

PMID:28954202

NCBI chr11:68,961,635...68,964,119
Ensembl chr11:68,961,632...68,964,119

transformation related protein 53