Low-set ears - Ontology Report - Rat Genome Database

OMIM:617762

NCBI chr11:76,860,918...77,026,797
Ensembl chr11:76,860,859...77,026,797

ACOX1

acyl-CoA oxidase 1

OMIM:264470 ORPHA:2971

NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177

ACP5

acid phosphatase 5, tartrate resistant

OMIM:607944

NCBI chr19:11,574,660...11,578,975
Ensembl chr19:11,574,653...11,579,993

ACTA1

actin alpha 1, skeletal muscle

ORPHA:171430 ORPHA:171433

NCBI chr 1:229,431,245...229,434,094
Ensembl chr 1:229,430,365...229,434,104

actin beta

NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902

ADA2

adenosine deaminase 2

NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235

ADAMTS2

ADAM metallopeptidase with thrombospondin type 1 motif 2

OMIM:225410

NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461

ADAMTS3

ADAM metallopeptidase with thrombospondin type 1 motif 3

ORPHA:2136

NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221

ADAR

adenosine deaminase RNA specific

NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013

ADAT3

adenosine deaminase tRNA specific 3

ORPHA:363528

NCBI chr19:1,905,399...1,913,447
Ensembl chr19:1,905,399...1,913,447

ADGRG6

adhesion G protein-coupled receptor G6

OMIM:616503

NCBI chr 6:142,302,007...142,446,261
Ensembl chr 6:142,301,854...142,446,266

ADNP

activity dependent neuroprotector homeobox

OMIM:615873 ORPHA:404448

NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437

ADSL

adenylosuccinate lyase

OMIM:103050 ORPHA:46

NCBI chr22:40,346,500...40,387,527
Ensembl chr22:40,346,461...40,390,463

AFF3

ALF transcription elongation factor 3

OMIM:619297

NCBI chr 2:99,545,419...100,142,590
Ensembl chr 2:99,545,419...100,192,428

agrin

NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,118

AHDC1

AT-hook DNA binding motif containing 1

OMIM:615829 ORPHA:412069

NCBI chr 1:27,534,245...27,604,227
Ensembl chr 1:27,534,035...27,604,431

AHI1

Abelson helper integration site 1

OMIM:608629 ORPHA:475

NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434

AIFM1

apoptosis inducing factor mitochondria associated 1

OMIM:300232

NCBI chr X:130,129,362...130,165,841
Ensembl chr X:130,124,666...130,165,879

AKT1

AKT serine/threonine kinase 1

ORPHA:744

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,751

ALDH18A1

aldehyde dehydrogenase 18 family member A1

OMIM:219150 OMIM:616603 ORPHA:90348

NCBI chr10:95,605,941...95,656,711
Ensembl chr10:95,605,941...95,656,711

ALDH1A2

aldehyde dehydrogenase 1 family member A2

OMIM:620025

NCBI chr15:57,953,429...58,065,711
Ensembl chr15:57,953,424...58,497,866

ALG13

ALG13 UDP-N-acetylglucosaminyltransferase subunit

OMIM:300884

NCBI chr X:111,681,170...111,760,649
Ensembl chr X:111,665,811...111,760,649

ALG2

ALG2 alpha-1,3/1,6-mannosyltransferase

OMIM:607906

NCBI chr 9:99,216,425...99,221,942
Ensembl chr 9:99,216,425...99,221,942

ALG6

ALG6 alpha-1,3-glucosyltransferase

ORPHA:79320

NCBI chr 1:63,367,627...63,438,553
Ensembl chr 1:63,367,575...63,438,553

ALG8

ALG8 alpha-1,3-glucosyltransferase

OMIM:608104 ORPHA:79325

NCBI chr11:78,100,946...78,139,626
Ensembl chr11:78,095,244...78,139,660

ALG9

ALG9 alpha-1,2-mannosyltransferase

OMIM:263210 OMIM:608776 ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

ALX homeobox 1

NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784

ALX homeobox 3

NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672

ALX4

ALX homeobox 4

OMIM:613451 ORPHA:228390

NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139

AMER1

APC membrane recruitment protein 1

OMIM:300373 ORPHA:2780

NCBI chr X:64,185,117...64,205,708
Ensembl chr X:64,185,117...64,205,708

anoctamin 1

NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530

ANTXR1

ANTXR cell adhesion molecule 1

ORPHA:2067

NCBI chr 2:69,013,144...69,249,327
Ensembl chr 2:69,013,176...69,249,327

ANTXR2

ANTXR cell adhesion molecule 2

OMIM:228600

NCBI chr 4:79,901,146...80,073,472
Ensembl chr 4:79,901,146...80,125,454

AP1G1

adaptor related protein complex 1 subunit gamma 1

OMIM:619548

NCBI chr16:71,729,000...71,808,834
Ensembl chr16:71,729,000...71,809,201

AP3B1

adaptor related protein complex 3 subunit beta 1

OMIM:608233

NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762

AP3D1

adaptor related protein complex 3 subunit delta 1

OMIM:617050

NCBI chr19:2,100,988...2,164,616
Ensembl chr19:2,100,988...2,164,468

ARID1B

AT-rich interaction domain 1B

OMIM:135900

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARID2

AT-rich interaction domain 2

OMIM:617808

NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040

ARL13B

ADP ribosylation factor like GTPase 13B

NCBI chr 3:93,980,155...94,055,678
Ensembl chr 3:93,980,139...94,055,678

ARL3

ADP ribosylation factor like GTPase 3

OMIM:618161 ORPHA:475

NCBI chr10:102,673,731...102,714,397
Ensembl chr10:102,673,731...102,714,397

ARMC9

armadillo repeat containing 9

NCBI chr 2:231,198,631...231,376,848
Ensembl chr 2:231,198,546...231,376,848

ARVCF

ARVCF delta catenin family member

NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823

ARX

aristaless related homeobox

OMIM:300215

NCBI chr X:25,003,694...25,015,965
Ensembl chr X:25,003,694...25,016,420

ASH1L

ASH1 like histone lysine methyltransferase

OMIM:617796

NCBI chr 1:155,335,268...155,563,202
Ensembl chr 1:155,335,268...155,563,162

ASXL1

ASXL transcriptional regulator 1

OMIM:605039

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

ASXL2

ASXL transcriptional regulator 2

OMIM:617190

NCBI chr 2:25,733,753...25,878,487
Ensembl chr 2:25,733,753...25,878,487

ASXL3

ASXL transcriptional regulator 3

OMIM:615485

NCBI chr18:33,578,219...33,751,195
Ensembl chr18:33,578,219...33,751,195

ATIC

5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase

OMIM:608688 ORPHA:250977

NCBI chr 2:215,312,059...215,368,592
Ensembl chr 2:215,311,956...215,349,773

atrophin 1

NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321

ATP2B1

ATPase plasma membrane Ca2+ transporting 1

OMIM:619910

NCBI chr12:89,588,049...89,709,366
Ensembl chr12:89,588,049...89,709,366

ATP6AP2

ATPase H+ transporting accessory protein 2

OMIM:301045

NCBI chr X:40,580,970...40,606,848
Ensembl chr X:40,579,372...40,606,848

ATP6V0A2

ATPase H+ transporting V0 subunit a2

OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:357074

NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755

ATP6V1A

ATPase H+ transporting V1 subunit A

OMIM:617403 ORPHA:357074

NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056

ATP6V1B2

ATPase H+ transporting V1 subunit B2

ORPHA:79500

NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819

ATP6V1E1

ATPase H+ transporting V1 subunit E1

OMIM:617402 ORPHA:357074

NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749

ATR

ATR serine/threonine kinase

OMIM:210600

NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733

ATRX

ATRX chromatin remodeler

OMIM:301040 OMIM:309580

NCBI chr X:77,504,880...77,786,216
Ensembl chr X:77,504,880...77,786,233

AUTS2

activator of transcription and developmental regulator AUTS2

OMIM:615834 ORPHA:352490

NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506

B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452

B3GALT6

beta-1,3-galactosyltransferase 6

ORPHA:536467

NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041

B3GAT3

beta-1,3-glucuronyltransferase 3

OMIM:245600

NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154

B3GLCT

beta 3-glucosyltransferase

OMIM:261540

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

B4GALT1

beta-1,4-galactosyltransferase 1

ORPHA:79332

NCBI chr 9:33,104,077...33,185,089
Ensembl chr 9:33,104,082...33,167,356

B4GALT7

beta-1,4-galactosyltransferase 7

OMIM:130070

NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330

B4GAT1

beta-1,4-glucuronyltransferase 1

NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629

B9D1

B9 domain containing 1

NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193

B9D2

B9 domain containing 2

NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165

BAP1

BRCA1 associated protein 1

OMIM:619762

NCBI chr 3:52,401,008...52,410,008
Ensembl chr 3:52,401,008...52,410,008

BCL11A

BCL11 transcription factor A

OMIM:617101

NCBI chr 2:60,450,520...60,553,924
Ensembl chr 2:60,450,520...60,554,467

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BICRA

BRD4 interacting chromatin remodeling complex associated protein

OMIM:619325

NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277

BLTP1

bridge-like lipid transfer protein family member 1

OMIM:617822

NCBI chr 4:122,152,331...122,362,752
Ensembl chr 4:122,152,331...122,364,167

BMP2

bone morphogenetic protein 2

OMIM:617877

NCBI chr20:6,767,686...6,780,246
Ensembl chr20:6,767,686...6,780,246

BMP4

bone morphogenetic protein 4

OMIM:607932

NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761

BMPER

BMP binding endothelial regulator

OMIM:608022

NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427

BMPR1A

bone morphogenetic protein receptor type 1A

ORPHA:79076

NCBI chr10:86,755,763...86,932,844
Ensembl chr10:86,756,596...86,932,825

BRAF

B-Raf proto-oncogene, serine/threonine kinase

OMIM:115150 OMIM:163950 OMIM:613706 OMIM:613707

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRCC3

BRCA1/BRCA2-containing complex subunit 3

ORPHA:280679

NCBI chr X:155,071,508...155,123,077
Ensembl chr X:155,071,420...155,123,077

BRF1

BRF1 RNA polymerase III transcription initiation factor subunit

OMIM:616202 ORPHA:444072

NCBI chr14:105,209,286...105,315,589
Ensembl chr14:105,209,286...105,315,589

BRPF1

bromodomain and PHD finger containing 1

OMIM:617333

NCBI chr 3:9,731,735...9,748,015
Ensembl chr 3:9,731,729...9,748,019

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

OMIM:257300

NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123

C12orf57

chromosome 12 open reading frame 57

OMIM:218340

NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003

C2CD3

C2 domain containing 3 centriole elongation regulator

OMIM:615948

NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210

CACNA1C

calcium voltage-gated channel subunit alpha1 C

OMIM:620029

NCBI chr12:1,970,780...2,697,950
Ensembl chr12:1,970,772...2,697,950

CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

OMIM:620149

NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956

CAMK2G

calcium/calmodulin dependent protein kinase II gamma

OMIM:618522

NCBI chr10:73,812,501...73,874,555
Ensembl chr10:73,812,501...73,874,591

CAMTA1

calmodulin binding transcription activator 1

OMIM:614756

NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706

caveolin 1

NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CBY1

chibby 1, beta catenin antagonist

NCBI chr22:38,656,638...38,673,850
Ensembl chr22:38,656,636...38,673,854

CC2D2A

coiled-coil and C2 domain containing 2A

ORPHA:1454

NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552

CCBE1

collagen and calcium binding EGF domains 1

OMIM:235510 ORPHA:2136

NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662

CCDC22

coiled-coil domain containing 22

ORPHA:7

NCBI chr X:49,235,470...49,250,520
Ensembl chr X:49,235,470...49,250,520

CCDC47

coiled-coil domain containing 47

OMIM:618268

NCBI chr17:63,745,255...63,773,597
Ensembl chr17:63,745,255...63,776,351

cyclin K

NCBI chr14:99,481,409...99,512,440
Ensembl chr14:99,481,169...99,535,044

cyclin Q

NCBI chr X:153,587,925...153,599,139
Ensembl chr X:153,587,925...153,600,045

CD96 molecule

NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750

CDC42

cell division cycle 42

OMIM:616737

NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360

CDC42BPB

CDC42 binding protein kinase beta

OMIM:619841

NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549

CDC45

cell division cycle 45

OMIM:617063 ORPHA:2554

NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612

CDC6

cell division cycle 6

OMIM:613805 ORPHA:2554

NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657

CDCA7

cell division cycle associated 7

OMIM:616910 ORPHA:2268

NCBI chr 2:173,354,872...173,368,997
Ensembl chr 2:173,354,820...173,368,997

cadherin 11

NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112

cadherin 2

NCBI chr18:27,932,879...28,177,130
Ensembl chr18:27,932,879...28,177,946

CDK10

cyclin dependent kinase 10

OMIM:617694

NCBI chr16:89,686,689...89,696,354
Ensembl chr16:89,680,737...89,696,354

CDK13

cyclin dependent kinase 13

OMIM:617360

NCBI chr 7:39,950,256...40,099,580
Ensembl chr 7:39,950,121...40,099,580

CDKN1C

cyclin dependent kinase inhibitor 1C

OMIM:614732 ORPHA:397590 ORPHA:85173

NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775

CDT1

chromatin licensing and DNA replication factor 1

OMIM:613804 ORPHA:2554

NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258

centromere protein F

NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574

centromere protein J

NCBI chr13:24,882,279...24,934,000
Ensembl chr13:24,882,279...24,922,889

CEP104

centrosomal protein 104

NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396

CEP120

centrosomal protein 120

NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592

CEP152

centrosomal protein 152

OMIM:613823

NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146

CEP41

centrosomal protein 41

NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433

CEP55

centrosomal protein 55

OMIM:236500

NCBI chr10:93,496,612...93,529,092
Ensembl chr10:93,496,612...93,529,092

CEP57

centrosomal protein 57

OMIM:614114

NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693

CHAMP1

chromosome alignment maintaining phosphoprotein 1

OMIM:616579

NCBI chr13:114,314,503...114,327,322
Ensembl chr13:114,314,482...114,337,626

CHAT

choline O-acetyltransferase

NCBI chr10:49,609,095...49,667,942
Ensembl chr10:49,609,095...49,667,942

CHD3

chromodomain helicase DNA binding protein 3

OMIM:618205

NCBI chr17:7,884,796...7,912,755
Ensembl chr17:7,884,796...7,912,760

CHD4

chromodomain helicase DNA binding protein 4

OMIM:617159

NCBI chr12:6,570,082...6,607,379
Ensembl chr12:6,570,082...6,614,524

CHD5

chromodomain helicase DNA binding protein 5

OMIM:619873

NCBI chr 1:6,101,787...6,180,321
Ensembl chr 1:6,101,787...6,180,321

CHD7

chromodomain helicase DNA binding protein 7

OMIM:214800

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CHMP1A

charged multivesicular body protein 1A

OMIM:614961

NCBI chr16:89,644,435...89,657,708
Ensembl chr16:89,640,816...89,657,738

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

OMIM:253290

NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935

CHRND

cholinergic receptor nicotinic delta subunit

OMIM:253290

NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667

CHRNG

cholinergic receptor nicotinic gamma subunit

OMIM:253290 OMIM:265000 ORPHA:2990

NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115

CHST14

carbohydrate sulfotransferase 14

OMIM:601776

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

CHST3

carbohydrate sulfotransferase 3

OMIM:245600

NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558

CHSY1

chondroitin sulfate synthase 1

ORPHA:363417

NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

OMIM:619339

NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596

CILK1

ciliogenesis associated kinase 1

OMIM:612651

NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824

CLCN3

chloride voltage-gated channel 3

OMIM:619512

NCBI chr 4:169,620,578...169,723,673
Ensembl chr 4:169,612,633...169,723,673

CLN5

CLN5 intracellular trafficking protein

ORPHA:168486

NCBI chr13:76,992,081...77,005,117
Ensembl chr13:76,990,660...77,019,143

CNOT1

CCR4-NOT transcription complex subunit 1

OMIM:618500 ORPHA:556955

NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885

CNOT2

CCR4-NOT transcription complex subunit 2

OMIM:618608

NCBI chr12:70,243,018...70,354,993
Ensembl chr12:70,243,002...70,354,993

CNOT3

CCR4-NOT transcription complex subunit 3

OMIM:618672

NCBI chr19:54,137,762...54,155,681
Ensembl chr19:54,137,749...54,155,681

CNTNAP1

contactin associated protein 1

OMIM:618186

NCBI chr17:42,682,531...42,699,993
Ensembl chr17:42,682,531...42,699,993

COG1

component of oligomeric golgi complex 1

OMIM:611209

NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507

COG3

component of oligomeric golgi complex 3

OMIM:620546

NCBI chr13:45,464,939...45,536,701
Ensembl chr13:45,464,898...45,536,701

COG5

component of oligomeric golgi complex 5

ORPHA:263487

NCBI chr 7:107,201,372...107,563,920
Ensembl chr 7:107,201,372...107,564,261

COG7

component of oligomeric golgi complex 7

OMIM:608779

NCBI chr16:23,388,493...23,453,189
Ensembl chr16:23,388,493...23,453,189

COL11A1

collagen type XI alpha 1 chain

OMIM:154780 OMIM:228520 ORPHA:2021

NCBI chr 1:102,876,473...103,108,522
Ensembl chr 1:102,876,467...103,108,872

COL11A2

collagen type XI alpha 2 chain

ORPHA:2021

NCBI chr 6:33,162,694...33,193,519
Ensembl chr 6:33,162,681...33,192,499

COL13A1

collagen type XIII alpha 1 chain

OMIM:616720 ORPHA:98914

NCBI chr10:69,801,906...69,959,144
Ensembl chr10:69,801,880...69,964,275

COL2A1

collagen type II alpha 1 chain

OMIM:151210 ORPHA:85166

NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554

COL4A1

collagen type IV alpha 1 chain

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,157

COLEC10

collectin subfamily member 10

ORPHA:293843

NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455

COLEC11

collectin subfamily member 11

ORPHA:293843

NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644

COMT

catechol-O-methyltransferase

NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

OMIM:277170 ORPHA:475

NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376

CPT2

carnitine palmitoyltransferase 2

OMIM:608836

NCBI chr 1:53,196,824...53,214,197
Ensembl chr 1:53,196,792...53,214,197

CREBBP

CREB binding protein

OMIM:180849 OMIM:618332 ORPHA:353277

NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713

CRLF1

cytokine receptor like factor 1

OMIM:272430

NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741

CRPPA

CDP-L-ribitol pyrophosphorylase A

OMIM:614643 ORPHA:899

NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504

CSNK2A1

casein kinase 2 alpha 1

OMIM:617062

NCBI chr20:472,498...543,790
Ensembl chr20:472,498...543,835

CSPP1

centrosome and spindle pole associated protein 1

ORPHA:397715 ORPHA:475

NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778

CCCTC-binding factor

NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177

CTSD

cathepsin D

OMIM:610127 ORPHA:168486

NCBI chr11:1,752,755...1,763,927
Ensembl chr11:1,752,752...1,764,573

CTU2

cytosolic thiouridylase subunit 2

OMIM:618142

NCBI chr16:88,706,503...88,715,396
Ensembl chr16:88,706,483...88,715,396

cut like homeobox 1

NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958

CWC27

CWC27 spliceosome associated cyclophilin

OMIM:250410 ORPHA:166035

NCBI chr 5:64,768,918...65,018,763
Ensembl chr 5:64,766,368...65,102,412

dystroglycan 1

NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618

DCPS

decapping enzyme, scavenger

OMIM:616459

NCBI chr11:126,304,060...126,350,005
Ensembl chr11:126,304,060...126,350,005

DDB1

damage specific DNA binding protein 1

OMIM:619426

NCBI chr11:61,299,451...61,333,105
Ensembl chr11:61,299,451...61,342,596

DDR2

discoidin domain receptor tyrosine kinase 2

OMIM:618175

NCBI chr 1:162,630,863...162,787,405
Ensembl chr 1:162,631,373...162,787,405

DDX3X

DEAD-box helicase 3 X-linked

ORPHA:3338

NCBI chr X:41,333,308...41,364,472
Ensembl chr X:41,333,348...41,364,472

DEAD-box helicase 59

NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907

DEAD-box helicase 6

NCBI chr11:118,747,763...118,791,744
Ensembl chr11:118,747,763...118,791,164

DHCR24

24-dehydrocholesterol reductase

OMIM:602398 ORPHA:35107

NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195

DHCR7

7-dehydrocholesterol reductase

OMIM:270400

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DHODH

dihydroorotate dehydrogenase (quinone)

OMIM:263750

NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664

DHPS

deoxyhypusine synthase

OMIM:618480

NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880

DExH-box helicase 30

NCBI chr 3:47,803,138...47,850,193
Ensembl chr 3:47,802,909...47,850,195

DIS3L2

DIS3 like 3'-5' exoribonuclease 2

OMIM:267000 ORPHA:2849

NCBI chr 2:231,961,713...232,344,350
Ensembl chr 2:231,961,245...232,344,350

DLX4

distal-less homeobox 4

OMIM:616788

NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959

DNAJC5

DnaJ heat shock protein family (Hsp40) member C5

ORPHA:168486

NCBI chr20:63,895,126...63,936,011
Ensembl chr20:63,895,126...63,936,031

dynamin 1

NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248

DNMT3B

DNA methyltransferase 3 beta

OMIM:242860 ORPHA:2268

NCBI chr20:32,762,385...32,809,356
Ensembl chr20:32,762,385...32,809,359

DOCK6

dedicator of cytokinesis 6

OMIM:614219

NCBI chr19:11,199,295...11,262,524
Ensembl chr19:11,199,295...11,262,524

DONSON

DNA replication fork stabilization factor DONSON

OMIM:251230

NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706

double PHD fingers 2

NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262

DPH1

diphthamide biosynthesis 1

OMIM:616901 ORPHA:459061

NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898

DPH2

diphthamide biosynthesis 2

OMIM:620062 ORPHA:459061

NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369

DPYSL5

dihydropyrimidinase like 5

ORPHA:7

NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351

dystonin

NCBI chr 6:56,457,996...56,954,830
Ensembl chr 6:56,457,987...56,954,830

DVL1

dishevelled segment polarity protein 1

OMIM:180700 ORPHA:3107

NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418

DVL3

dishevelled segment polarity protein 3

OMIM:616894 ORPHA:3107

NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614

DYNC2LI1

dynein cytoplasmic 2 light intermediate chain 1

OMIM:617088

NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010

DZIP1L

DAZ interacting zinc finger protein 1 like

ORPHA:731

NCBI chr 3:138,061,990...138,115,608
Ensembl chr 3:138,061,990...138,115,818

EBF3

EBF transcription factor 3

OMIM:617330

NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053

EBP

EBP cholestenol delta-isomerase

OMIM:300960 ORPHA:35173 ORPHA:401973

NCBI chr X:48,521,808...48,528,716
Ensembl chr X:48,521,799...48,528,716

EDEM3

ER degradation enhancing alpha-mannosidase like protein 3

OMIM:619493

NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907

EDNRA

endothelin receptor type A

OMIM:616367

NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954

EED

embryonic ectoderm development

OMIM:617561

NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813

EEF1A2

eukaryotic translation elongation factor 1 alpha 2

OMIM:616393

NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239

EFEMP2

EGF containing fibulin extracellular matrix protein 2

OMIM:614437

NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592

EFL1

elongation factor like GTPase 1

OMIM:617941

NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773

EFTUD2

elongation factor Tu GTP binding domain containing 2

OMIM:610536 ORPHA:79113

NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445

EIF4A3

eukaryotic translation initiation factor 4A3

OMIM:268305

NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151

EIF5A

eukaryotic translation initiation factor 5A

OMIM:619376

NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

EP300

E1A binding protein p300

OMIM:180849 ORPHA:353284

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,592...41,180,077

EPG5

ectopic P-granules 5 autophagy tethering factor

OMIM:242840

NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329

ERCC1

ERCC excision repair 1, endonuclease non-catalytic subunit

OMIM:610758

NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

OMIM:615272

NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348

ERCC5

ERCC excision repair 5, endonuclease

OMIM:616570

NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995

exoribonuclease 1

NCBI chr 8:9,002,897...9,100,104
Ensembl chr 8:9,002,147...9,116,746

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

OMIM:268300

NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640

EXOC2

exocyst complex component 2

OMIM:619306

NCBI chr 6:485,154...693,139
Ensembl chr 6:485,154...693,139

EXOC7

exocyst complex component 7

OMIM:619072

NCBI chr17:76,081,016...76,103,787
Ensembl chr17:76,081,016...76,121,576

exosome component 2

NCBI chr 9:130,693,760...130,704,894
Ensembl chr 9:130,693,721...130,707,288

exosome component 9

NCBI chr 4:121,801,323...121,817,021
Ensembl chr 4:121,801,318...121,817,021

EYA1

EYA transcriptional coactivator and phosphatase 1

OMIM:602588

NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025

FAM20C

FAM20C golgi associated secretory pathway kinase

OMIM:259775 ORPHA:1832

NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772

FANCB

FA complementation group B

OMIM:300514

NCBI chr X:14,689,524...14,873,069
Ensembl chr X:14,690,388...14,873,255

FANCD2

FA complementation group D2

OMIM:227646

NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932

FANCL

FA complementation group L

OMIM:614083

NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410

FAT4

FAT atypical cadherin 4

ORPHA:2136

NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932

fibulin 5

NCBI chr14:91,869,411...91,947,694
Ensembl chr14:91,869,411...91,947,987

FBN1

fibrillin 1

ORPHA:2462 ORPHA:284979

NCBI chr15:48,408,313...48,645,709
Ensembl chr15:48,408,313...48,645,721

F-box protein 11

NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498

FDFT1

farnesyl-diphosphate farnesyltransferase 1

OMIM:618156

NCBI chr 8:11,795,582...11,839,309
Ensembl chr 8:11,795,573...11,839,395

FGF10

fibroblast growth factor 10

ORPHA:2363

NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706

FGF20

fibroblast growth factor 20

ORPHA:1848

NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345

FGFR1

fibroblast growth factor receptor 1

OMIM:166250 OMIM:615465 ORPHA:93258

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FGFR2

fibroblast growth factor receptor 2

ClinVar Annotator: match by term: Low-set ears

OMIM:101400 OMIM:614592 ORPHA:2363 ORPHA:313855 ORPHA:794 ORPHA:93258 ORPHA:93259 ORPHA:93260

PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More...

NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458

FGFR3

fibroblast growth factor receptor 3

ORPHA:2363 ORPHA:794

NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872

FHL1

four and a half LIM domains 1

OMIM:300280

NCBI chr X:136,146,702...136,211,359
Ensembl chr X:136,146,702...136,211,359

FIG4

FIG4 phosphoinositide 5-phosphatase

OMIM:216340 ORPHA:3472

NCBI chr 6:109,691,296...109,825,426
Ensembl chr 6:109,690,609...109,878,098

FKRP

fukutin related protein

NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988

FKTN

fukutin

NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820

FLNA

filamin A

OMIM:300048 OMIM:300244 OMIM:304120 ORPHA:90652

NCBI chr X:154,348,531...154,374,634
Ensembl chr X:154,348,524...154,374,634

FLNB

filamin B

OMIM:108720 ORPHA:1190

NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251

forkhead box F1

NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422

forkhead box L2

NCBI chr 3:138,944,224...138,947,137
Ensembl chr 3:138,944,224...138,947,137

forkhead box P2

NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772

FRA10AC1

FRA10A associated CGG repeat 1

OMIM:620113

NCBI chr10:93,667,883...93,702,959
Ensembl chr10:93,667,883...93,702,592

FRAS1

Fraser extracellular matrix complex subunit 1

OMIM:219000

NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269

FREM1

FRAS1 related extracellular matrix 1

OMIM:608980

NCBI chr 9:14,737,152...14,910,995
Ensembl chr 9:14,737,152...14,910,995

FREM2

FRAS1 related extracellular matrix 2

OMIM:617666

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

FRMD4A

FERM domain containing 4A

OMIM:616819

NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142

alpha-L-fucosidase 1

NCBI chr 1:23,845,077...23,868,290
Ensembl chr 1:23,845,077...23,868,290

FZD2

frizzled class receptor 2

ORPHA:3107

NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262

GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

OMIM:301091

NCBI chr X:152,166,234...152,451,315
Ensembl chr X:152,166,234...152,451,315

GAD1

glutamate decarboxylase 1

OMIM:619124

NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151

GALNT2

polypeptide N-acetylgalactosaminyltransferase 2

OMIM:618885

NCBI chr 1:230,057,789...230,282,122
Ensembl chr 1:230,057,990...230,282,122

GATA1

GATA binding protein 1

NCBI chr X:48,786,590...48,794,311
Ensembl chr X:48,786,540...48,794,311

GATA4

GATA binding protein 4

ORPHA:251071

NCBI chr 8:11,676,935...11,760,002
Ensembl chr 8:11,676,959...11,760,002

GBA1

glucosylceramidase beta 1

OMIM:608013

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GFRA1

GDNF family receptor alpha 1

ORPHA:1848

NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803

GJA1

gap junction protein alpha 1

OMIM:257850

NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727

GJA5

gap junction protein alpha 5

OMIM:612474

NCBI chr 1:147,756,199...147,773,351
Ensembl chr 1:147,756,199...147,773,362

GJA8

gap junction protein alpha 8

OMIM:612474

NCBI chr 1:147,902,795...147,914,486
Ensembl chr 1:147,902,795...147,909,269

glycerol kinase

OMIM:307030

NCBI chr X:30,653,423...30,731,462
Ensembl chr X:30,653,359...30,731,462

galactosidase beta 1

NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202

GLE1

GLE1 RNA export mediator

OMIM:611890

NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874

GLIS3

GLIS family zinc finger 3

OMIM:610199

NCBI chr 9:3,824,127...4,490,465
Ensembl chr 9:3,824,127...4,348,392

GLUL

glutamate-ammonia ligase

OMIM:610015

NCBI chr 1:182,378,098...182,391,790
Ensembl chr 1:182,378,098...182,392,206

GMNN

geminin DNA replication inhibitor

ORPHA:2554

NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099

GNAI3

G protein subunit alpha i3

OMIM:602483

NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195

GNB2

G protein subunit beta 2

OMIM:619503

NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174

GNE

glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase

OMIM:269921 ORPHA:3166

NCBI chr 9:36,214,441...36,276,978
Ensembl chr 9:36,214,441...36,277,042

GNS

glucosamine (N-acetyl)-6-sulfatase

OMIM:252940

NCBI chr12:64,713,449...64,759,406
Ensembl chr12:64,713,445...64,759,431

GON7

GON7 subunit of KEOPS complex

OMIM:619603

NCBI chr14:93,202,894...93,207,065
Ensembl chr14:93,202,894...93,207,065

GP1BB

glycoprotein Ib platelet subunit beta

NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771

glypican 4

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

glypican 6

NCBI chr13:93,216,529...94,408,020
Ensembl chr13:93,226,807...94,408,020

GPKOW

G-patch domain and KOW motifs

ORPHA:2570

NCBI chr X:49,113,407...49,123,735
Ensembl chr X:49,113,407...49,123,735

GPT2

glutamic--pyruvic transaminase 2

OMIM:616281 ORPHA:477673

NCBI chr16:46,884,362...46,931,289
Ensembl chr16:46,884,362...46,931,289

GREB1L

GREB1 like retinoic acid receptor coactivator

ORPHA:1848

NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112

GRIP1

glutamate receptor interacting protein 1

OMIM:617667

NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162

granulin precursor

NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106

GTF2H5

general transcription factor IIH subunit 5

OMIM:616395

NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344

GTPBP2

GTP binding protein 2

OMIM:617988

NCBI chr 6:43,620,494...43,631,333
Ensembl chr 6:43,605,316...43,629,264

H3.3 histone A

NCBI chr 1:226,061,831...226,072,019
Ensembl chr 1:226,061,851...226,072,019

H4C3

H4 clustered histone 3

OMIM:619758

NCBI chr 6:26,103,933...26,104,337
Ensembl chr 6:26,103,933...26,104,337

H4C5

H4 clustered histone 5

OMIM:619950

NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021

H4C9

H4 clustered histone 9

OMIM:619951

NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,139,678

HDAC6

histone deacetylase 6

OMIM:300863 ORPHA:163966

NCBI chr X:48,801,398...48,824,982
Ensembl chr X:48,801,377...48,824,982

HEATR3

HEAT repeat containing 3

OMIM:620072 ORPHA:124

NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272

HELLS

helicase, lymphoid specific

ORPHA:2268

NCBI chr10:94,545,788...94,613,905
Ensembl chr10:94,545,329...94,613,905

HERC1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

OMIM:617011

NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948

HIRA

histone cell cycle regulator

NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450

HMGA2

high mobility group AT-hook 2

ORPHA:397590

NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291

H6 family homeobox 1

NCBI chr 4:8,846,076...8,871,839
Ensembl chr 4:8,846,076...8,871,839

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

OMIM:620083

NCBI chr 5:179,614,178...179,634,784
Ensembl chr 5:179,614,178...179,634,784

homeobox B1

NCBI chr17:48,528,526...48,531,011
Ensembl chr17:48,528,526...48,531,011

HRAS

HRas proto-oncogene, GTPase

OMIM:218040

NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321

HS2ST1

heparan sulfate 2-O-sulfotransferase 1

OMIM:619194

NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982

HS6ST2

heparan sulfate 6-O-sulfotransferase 2

OMIM:301025

NCBI chr X:132,626,015...132,961,370
Ensembl chr X:132,626,015...132,961,395

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

OMIM:261515

NCBI chr 5:119,452,497...119,542,332
Ensembl chr 5:119,452,465...119,637,199

HSPG2

heparan sulfate proteoglycan 2

OMIM:255800 ORPHA:1865

NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310

HUWE1

HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1

OMIM:309590

NCBI chr X:53,532,096...53,686,719
Ensembl chr X:53,532,096...53,686,752

HYLS1

HYLS1 centriolar and ciliogenesis associated

OMIM:236680 ORPHA:2189 ORPHA:475

NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646

IFIH1

interferon induced with helicase C domain 1

NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684

IFT122

intraflagellar transport 122

OMIM:218330

NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510

IFT140

intraflagellar transport 140

OMIM:266920

NCBI chr16:1,510,427...1,612,072
Ensembl chr16:1,510,427...1,612,072

IFT52

intraflagellar transport 52

OMIM:617102

NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299

IFT56

intraflagellar transport 56

OMIM:619534

NCBI chr 7:139,133,778...139,191,986
Ensembl chr 7:139,133,744...139,191,986

IFT74

intraflagellar transport 74

NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134

IFT81

intraflagellar transport 81

OMIM:617895

NCBI chr12:110,124,357...110,218,793
Ensembl chr12:110,124,335...110,218,793

IGBP1

immunoglobulin binding protein 1

OMIM:300472 ORPHA:52055

NCBI chr X:70,133,447...70,166,324
Ensembl chr X:70,133,447...70,166,324

IGF1R

insulin like growth factor 1 receptor

OMIM:270450

NCBI chr15:98,648,539...98,964,530
Ensembl chr15:98,648,539...98,964,530

IGF2

insulin like growth factor 2

OMIM:616489 ORPHA:397590

NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619750

NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022

INPP5E

inositol polyphosphate-5-phosphatase E

OMIM:213300 ORPHA:1454 ORPHA:475

NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845

INPPL1

inositol polyphosphate phosphatase like 1

OMIM:258480

NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147

INSR

insulin receptor

OMIM:246200 ORPHA:508

NCBI chr19:7,112,265...7,294,414
Ensembl chr19:7,112,255...7,294,414

INTS1

integrator complex subunit 1

OMIM:618571

NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389

INTU

inturned planar cell polarity protein

OMIM:617925 OMIM:617926

NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737

importin 8

NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869

IREB2

iron responsive element binding protein 2

OMIM:618451

NCBI chr15:78,437,431...78,501,453
Ensembl chr15:78,437,431...78,501,453

iroquois homeobox 5

NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485

ITCH

itchy E3 ubiquitin protein ligase

OMIM:613385

NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773

ITGA8

integrin subunit alpha 8

OMIM:191830 ORPHA:1848

NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922

JAG1

jagged canonical Notch ligand 1

OMIM:118450

NCBI chr20:10,637,684...10,673,999
Ensembl chr20:10,637,684...10,673,999

JARID2

jumonji and AT-rich interaction domain containing 2

OMIM:620098

NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042

JMJD1C

jumonji domain containing 1C

NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850

KAT5

lysine acetyltransferase 5

OMIM:619103

NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604

KAT6A

lysine acetyltransferase 6A

OMIM:616268

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

KAT6B

lysine acetyltransferase 6B

OMIM:603736 ORPHA:3047 ORPHA:85201

NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624

KAT8

lysine acetyltransferase 8

OMIM:618974

NCBI chr16:31,117,664...31,131,393
Ensembl chr16:31,114,489...31,131,393

KATNB1

katanin regulatory subunit B1

ORPHA:89844

NCBI chr16:57,735,770...57,757,244
Ensembl chr16:57,735,739...57,757,244

KATNIP

katanin interacting protein

NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344

KCNH1

potassium voltage-gated channel subfamily H member 1

OMIM:135500

NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

OMIM:170390 ORPHA:37553

NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

ORPHA:37553

NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163

KCNK4

potassium two pore domain channel subfamily K member 4

OMIM:618381

NCBI chr11:64,291,302...64,300,031
Ensembl chr11:64,291,302...64,300,031

KCTD1

potassium channel tetramerization domain containing 1

OMIM:181270

NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401

KDM4B

lysine demethylase 4B

OMIM:619320

NCBI chr19:4,969,113...5,153,598
Ensembl chr19:4,969,113...5,153,598

KDM6A

lysine demethylase 6A

OMIM:147920 OMIM:300867

NCBI chr X:44,873,188...45,112,779
Ensembl chr X:44,873,188...45,112,779

KIAA0586

OMIM:616546 ORPHA:397715 ORPHA:475

NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297

KIAA0753

OMIM:617127 OMIM:619476 OMIM:619479 ORPHA:475

NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711

KIF14

kinesin family member 14

OMIM:616258

NCBI chr 1:200,551,497...200,620,751
Ensembl chr 1:200,551,497...200,620,751

KIF15

kinesin family member 15

ORPHA:261323

NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376

KIF26A

kinesin family member 26A

OMIM:620156

NCBI chr14:104,138,587...104,180,894
Ensembl chr14:104,136,454...104,180,894

KIF7

kinesin family member 7

OMIM:200990 OMIM:607131 ORPHA:2189

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

KIFBP

kinesin family binding protein

OMIM:609460

NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544

KLHL40

kelch like family member 40

ORPHA:171430

NCBI chr 3:42,685,537...42,692,544
Ensembl chr 3:42,685,537...42,692,544

KLHL41

kelch like family member 41

ORPHA:171430 ORPHA:171433

NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258

KMT2A

lysine methyltransferase 2A

OMIM:605130 ORPHA:319182

NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832

KMT2D

lysine methyltransferase 2D

OMIM:147920 OMIM:620186

NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794

KRAS

KRAS proto-oncogene, GTPase

OMIM:609942 OMIM:615278

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

kynureninase

NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841

LARP7

La ribonucleoprotein 7, transcriptional regulator

OMIM:615071 ORPHA:319671

NCBI chr 4:112,637,143...112,657,586
Ensembl chr 4:112,637,077...112,657,696

lamin B receptor

NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

OMIM:620089

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LIFR

LIF receptor subunit alpha

OMIM:601559

NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354

LMBRD1

LMBR1 domain containing 1

OMIM:277380

NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,573...156,140,081

leiomodin 3

NCBI chr 3:69,106,065...69,122,595
Ensembl chr 3:69,106,065...69,123,032

LMX1B

LIM homeobox transcription factor 1 beta

ORPHA:495818

NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032

LRP2

LDL receptor related protein 2

OMIM:222448

NCBI chr 2:169,127,109...169,362,534
Ensembl chr 2:169,127,109...169,362,534

LRPPRC

leucine rich pentatricopeptide repeat containing

OMIM:220111

NCBI chr 2:43,886,224...43,996,265
Ensembl chr 2:43,886,224...43,996,226

LRRC8A

leucine rich repeat containing 8 VRAC subunit A

OMIM:613506

NCBI chr 9:128,882,133...128,918,039
Ensembl chr 9:128,882,133...128,918,039

LSM11

LSM11, U7 small nuclear RNA associated

NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709

LZTR1

leucine zipper like post translational regulator 1

OMIM:605275 OMIM:616564

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

mab-21 like 1

NCBI chr13:35,473,789...35,476,689
Ensembl chr13:35,473,419...35,478,764

MACF1

microtubule actin crosslinking factor 1

OMIM:618325

NCBI chr 1:39,084,167...39,487,138
Ensembl chr 1:39,081,316...39,487,177

MADD

MAP kinase activating death domain

OMIM:619004

NCBI chr11:47,269,188...47,330,031
Ensembl chr11:47,269,161...47,330,031

MAF

MAF bZIP transcription factor

OMIM:601088 ORPHA:1272

NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737

MAGEL2

MAGE family member L2

OMIM:615547

NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867

MAN1B1

mannosidase alpha class 1B member 1

OMIM:614202 ORPHA:397941

NCBI chr 9:137,086,985...137,109,183
Ensembl chr 9:137,086,857...137,109,189

MAP2K1

mitogen-activated protein kinase kinase 1

OMIM:163950

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

MAP3K7

mitogen-activated protein kinase kinase kinase 7

OMIM:157800 OMIM:617137

NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086

MAPK1

mitogen-activated protein kinase 1

OMIM:619087

NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680

MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3

OMIM:618443

NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351

MAPRE2

microtubule associated protein RP/EB family member 2

OMIM:616734

NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470

MARS1

methionyl-tRNA synthetase 1

OMIM:620323

NCBI chr12:57,488,068...57,516,652
Ensembl chr12:57,475,445...57,517,569

MARS2

methionyl-tRNA synthetase 2, mitochondrial

OMIM:616430

NCBI chr 2:197,705,369...197,708,395
Ensembl chr 2:197,705,369...197,708,395

MASP1

MBL associated serine protease 1

ORPHA:293843

NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980

MBD5

methyl-CpG binding domain protein 5

OMIM:156200

NCBI chr 2:148,020,927...148,516,971
Ensembl chr 2:148,021,011...148,516,971

MBTPS2

membrane bound transcription factor peptidase, site 2

ORPHA:85284

NCBI chr X:21,839,617...21,885,423
Ensembl chr X:21,839,617...21,885,423

MCM5

minichromosome maintenance complex component 5

OMIM:617564

NCBI chr22:35,400,140...35,455,031
Ensembl chr22:35,400,134...35,425,431

MCTP2

multiple C2 and transmembrane domain containing 2

ORPHA:1596

NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952

MECP2

methyl-CpG binding protein 2

OMIM:300260

NCBI chr X:154,021,573...154,097,717
Ensembl chr X:154,021,573...154,137,103

MED12

mediator complex subunit 12

OMIM:300895 OMIM:309520 ORPHA:776

NCBI chr X:71,118,596...71,142,450
Ensembl chr X:71,118,543...71,144,103

MED13L

mediator complex subunit 13L

OMIM:616789 ORPHA:369891

NCBI chr12:115,958,576...116,277,693
Ensembl chr12:115,957,905...116,277,693

MED25

mediator complex subunit 25

OMIM:616449 ORPHA:464738

NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383

MED27

mediator complex subunit 27

OMIM:619286

NCBI chr 9:131,860,112...132,079,867
Ensembl chr 9:131,852,928...132,079,867

MEF2C

myocyte enhancer factor 2C

OMIM:613443

NCBI chr 5:88,717,117...88,904,105
Ensembl chr 5:88,717,117...88,904,257

MEGF8

multiple EGF like domains 8

OMIM:614976

NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769

MEIS2

Meis homeobox 2

OMIM:600987 ORPHA:261190

NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299

MESD

mesoderm development LRP chaperone

OMIM:618644

NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828

METTL5

methyltransferase 5, N6-adenosine

OMIM:618665

NCBI chr 2:169,811,757...169,824,905
Ensembl chr 2:169,810,081...169,824,931

MGAT2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

OMIM:212066

NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481

MID1

midline 1

OMIM:300000 ORPHA:2745

NCBI chr X:10,445,310...10,833,683
Ensembl chr X:10,445,310...10,833,654

MINPP1

multiple inositol-polyphosphate phosphatase 1

OMIM:619527

NCBI chr10:87,504,893...87,553,461
Ensembl chr10:87,504,875...87,553,461

MKS1

MKS transition zone complex subunit 1

OMIM:249000 ORPHA:475

NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605

MMACHC

metabolism of cobalamin associated C

OMIM:277400 ORPHA:79282

NCBI chr 1:45,500,300...45,513,382
Ensembl chr 1:45,500,300...45,513,382

MN1

MN1 proto-oncogene, transcriptional regulator

OMIM:618774

NCBI chr22:27,748,277...27,801,756
Ensembl chr22:27,748,277...27,801,756

MRAS

muscle RAS oncogene homolog

OMIM:618499

NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534

MRPL12

mitochondrial ribosomal protein L12

OMIM:618951

NCBI chr17:81,703,367...81,707,517
Ensembl chr17:81,703,367...81,707,517

MRPS14

mitochondrial ribosomal protein S14

OMIM:618378

NCBI chr 1:175,012,958...175,023,425
Ensembl chr 1:175,010,789...175,023,425

MRPS16

mitochondrial ribosomal protein S16

OMIM:610498

NCBI chr10:73,248,849...73,252,644
Ensembl chr10:73,248,843...73,252,693

MRPS2

mitochondrial ribosomal protein S2

OMIM:617950

NCBI chr 9:135,499,965...135,504,673
Ensembl chr 9:135,499,984...135,504,673

MRPS22

mitochondrial ribosomal protein S22

OMIM:611719

NCBI chr 3:139,343,994...139,357,140
Ensembl chr 3:139,005,806...139,360,497

MRPS28

mitochondrial ribosomal protein S28

OMIM:618958

NCBI chr 8:79,918,717...80,030,259
Ensembl chr 8:79,918,717...80,030,289

MSL3

MSL complex subunit 3

OMIM:301032

NCBI chr X:11,758,159...11,775,772
Ensembl chr X:11,758,159...11,775,772

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:8,527...9,207
Ensembl chr MT:8,527...9,207

MT-ATP8

mitochondrially encoded ATP synthase membrane subunit 8

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:8,366...8,572
Ensembl chr MT:8,366...8,572

MT-CO1

mitochondrially encoded cytochrome c oxidase I

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,904...7,445
Ensembl chr MT:5,904...7,445

MT-CO2

mitochondrially encoded cytochrome c oxidase II

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,586...8,269
Ensembl chr MT:7,586...8,269

MT-CO3

mitochondrially encoded cytochrome c oxidase III

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:9,207...9,990
Ensembl chr MT:9,207...9,990

MT-ND1

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 1

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:3,307...4,262
Ensembl chr MT:3,307...4,262

MT-ND2

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 2

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:4,470...5,511
Ensembl chr MT:4,470...5,511

MT-ND3

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:10,059...10,404
Ensembl chr MT:10,059...10,404

MT-ND4

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:10,760...12,137
Ensembl chr MT:10,760...12,137

MT-ND4L

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 4L

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:10,470...10,766
Ensembl chr MT:10,470...10,766

MT-ND5

mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 5

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:12,337...14,148
Ensembl chr MT:12,337...14,148

MT-TA

mitochondrially encoded tRNA-Ala (GCN)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,587...5,655
Ensembl chr MT:5,587...5,655

MT-TC

mitochondrially encoded tRNA-Cys (UGU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,761...5,826
Ensembl chr MT:5,761...5,826

MT-TD

mitochondrially encoded tRNA-Asp (GAU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,518...7,585
Ensembl chr MT:7,518...7,585

MT-TG

mitochondrially encoded tRNA-Gly (GGN)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:9,991...10,058
Ensembl chr MT:9,991...10,058

MT-TH

mitochondrially encoded tRNA-His (CAU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:12,138...12,206
Ensembl chr MT:12,138...12,206

MT-TI

mitochondrially encoded tRNA-Ile (AUU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:4,263...4,331
Ensembl chr MT:4,263...4,331

MT-TK

mitochondrially encoded tRNA-Lys (AAA/G)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:8,295...8,364
Ensembl chr MT:8,295...8,364

MT-TM

mitochondrially encoded tRNA-Met (AUA/G)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:4,402...4,469
Ensembl chr MT:4,402...4,469

MT-TN

mitochondrially encoded tRNA-Asn (AAU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,657...5,729
Ensembl chr MT:5,657...5,729

MT-TQ

mitochondrially encoded tRNA-Gln (CAA/G)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:4,329...4,400
Ensembl chr MT:4,329...4,400

MT-TR

mitochondrially encoded tRNA-Arg (CGN)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:10,405...10,469
Ensembl chr MT:10,405...10,469

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:7,446...7,514
Ensembl chr MT:7,446...7,514

MT-TS2

mitochondrially encoded tRNA-Ser (AGU/C) 2

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:12,207...12,265
Ensembl chr MT:12,207...12,265

MT-TW

mitochondrially encoded tRNA-Trp (UGA/G)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,512...5,579
Ensembl chr MT:5,512...5,579

MT-TY

mitochondrially encoded tRNA-Tyr (UAU/C)

ClinVar Annotator: match by term: Low-set ears

PMID:1436530 PMID:1539598 PMID:1550128 PMID:2137962 PMID:8042671 More...

NCBI chr MT:5,826...5,891
Ensembl chr MT:5,826...5,891

MTHFR

methylenetetrahydrofolate reductase

ORPHA:563612

NCBI chr 1:11,785,723...11,805,964
Ensembl chr 1:11,785,723...11,806,455

MUSK

muscle associated receptor tyrosine kinase

OMIM:208150

NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558

mevalonate kinase

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

MYCN

MYCN proto-oncogene, bHLH transcription factor

OMIM:164280

NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007

MYH3

myosin heavy chain 3

OMIM:178110 ORPHA:2990

NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309

MYMX

myomixer, myoblast fusion factor

OMIM:619941

NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234

MYO15A

myosin XVA

ClinVar Annotator: match by term: Melotia

PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532

NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802

myosin XVIIIB

NCBI chr22:25,742,188...26,063,847
Ensembl chr22:25,742,144...26,031,045

myosin IXA

NCBI chr15:71,822,291...72,118,600
Ensembl chr15:71,822,291...72,118,577

MYOD1

myogenic differentiation 1

OMIM:618975

NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136

MYSM1

Myb like, SWIRM and MPN domains 1

OMIM:618116

NCBI chr 1:58,654,743...58,700,062
Ensembl chr 1:58,643,440...58,700,090

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855 OMIM:309800 ORPHA:276432

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NAA20

N-alpha-acetyltransferase 20, NatB catalytic subunit

OMIM:619717

NCBI chr20:20,017,290...20,033,655
Ensembl chr20:20,017,310...20,033,655

NALCN

sodium leak channel, non-selective

OMIM:615419 ORPHA:562528

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

NARS1

asparaginyl-tRNA synthetase 1

OMIM:619092

NCBI chr18:57,600,656...57,621,836
Ensembl chr18:57,600,656...57,622,213

NDE1

nudE neurodevelopment protein 1

ORPHA:89844

NCBI chr16:15,643,382...15,726,353
Ensembl chr16:15,643,267...15,734,691

NEB

nebulin

ClinVar Annotator: match by term: Melotia

PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532

OMIM:256030 ORPHA:171430 ORPHA:171433

NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487

NECTIN1

nectin cell adhesion molecule 1

OMIM:225060

NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200

NEK9

NIMA related kinase 9

OMIM:617022

NCBI chr14:75,079,353...75,127,202
Ensembl chr14:75,079,353...75,127,344

NEU1

neuraminidase 1

ORPHA:93399 ORPHA:93400

NCBI chr 6:31,857,659...31,862,821
Ensembl chr 6:31,857,659...31,862,905

NF1

neurofibromin 1

OMIM:193520 OMIM:601321 ORPHA:97685

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

nuclear factor I A

NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788

NFIX

nuclear factor I X

OMIM:602535 ORPHA:447980

NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796

N-glycanase 1

NCBI chr 3:25,718,944...25,790,039
Ensembl chr 3:25,718,944...25,790,039

NIPBL

NIPBL cohesin loading factor

OMIM:122470

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NOTCH2

notch receptor 2

OMIM:102500 ORPHA:955

NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779

NOTCH3

notch receptor 3

OMIM:130720 ORPHA:2789

NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995

NRAS

NRAS proto-oncogene, GTPase

OMIM:613224

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

NSD1

nuclear receptor binding SET domain protein 1

OMIM:117550

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSRP1

nuclear speckle splicing regulatory protein 1

OMIM:620001

NCBI chr17:30,116,816...30,186,475
Ensembl chr17:30,115,521...30,186,475

netrin G2

NCBI chr 9:132,161,689...132,244,526
Ensembl chr 9:132,162,058...132,244,526

nucleoporin 188

NCBI chr 9:128,947,699...129,007,096
Ensembl chr 9:128,947,699...129,007,096

nucleoporin 88

NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164

nucleoredoxin

NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776

occludin

NCBI chr 5:69,492,547...69,558,104
Ensembl chr 5:69,492,292...69,558,104

OFD1

OFD1 centriole and centriolar satellite protein

OMIM:300209 OMIM:300804 OMIM:311200 ORPHA:475

NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955

OGT

O-linked N-acetylglucosamine (GlcNAc) transferase

OMIM:300997

NCBI chr X:71,533,104...71,575,892
Ensembl chr X:71,533,087...71,575,892

ORC1

origin recognition complex subunit 1

OMIM:224690 ORPHA:2554

NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423

ORC4

origin recognition complex subunit 4

ORPHA:2554

NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604

ORC6

origin recognition complex subunit 6

OMIM:613803 ORPHA:2554

NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394

OSGEP

O-sialoglycoprotein endopeptidase

OMIM:617729

NCBI chr14:20,446,401...20,454,812
Ensembl chr14:20,446,401...20,455,089

OTU deubiquitinase 5

NCBI chr X:48,922,024...48,958,381
Ensembl chr X:48,922,024...48,958,386

OTUD6B

OTU deubiquitinase 6B

OMIM:617452 ORPHA:505237

NCBI chr 8:91,070,344...91,087,093
Ensembl chr 8:91,070,196...91,087,095

PACS1

phosphofurin acidic cluster sorting protein 1

OMIM:615009 ORPHA:329224

NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

ORPHA:217385

NCBI chr17:2,593,183...2,685,615
Ensembl chr17:2,593,210...2,685,615

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

OMIM:619859

NCBI chr 4:56,410,507...56,464,578
Ensembl chr 4:56,435,741...56,464,578

PAM16

presequence translocase associated motor 16

OMIM:613320

NCBI chr16:4,340,251...4,351,321
Ensembl chr16:4,331,549...4,355,607

paired box 1

NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481

paired box 7

NCBI chr 1:18,630,846...18,748,866
Ensembl chr 1:18,630,846...18,748,866

PBX homeobox 1

NCBI chr 1:164,559,184...164,886,047
Ensembl chr 1:164,555,584...164,899,296

PCDHGC4

protocadherin gamma subfamily C, 4

OMIM:619880

NCBI chr 5:141,485,030...141,512,975
Ensembl chr 5:141,484,997...141,512,975

PCGF2

polycomb group ring finger 2

OMIM:618371

NCBI chr17:38,733,898...38,749,792
Ensembl chr17:38,733,898...38,749,817

PCLO

piccolo presynaptic cytomatrix protein

OMIM:608027

NCBI chr 7:82,754,012...83,162,884
Ensembl chr 7:82,754,012...83,162,930

pericentrin

NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769

phosphodiesterase 6D

NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272

PDZD8

PDZ domain containing 8

OMIM:620021

NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440

PEX1

peroxisomal biogenesis factor 1

OMIM:214100

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX10

peroxisomal biogenesis factor 10

OMIM:614870

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX12

peroxisomal biogenesis factor 12

OMIM:614859

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX2

peroxisomal biogenesis factor 2

OMIM:614866

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PEX26

peroxisomal biogenesis factor 26

OMIM:614872

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

OMIM:617370

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

OMIM:202370

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PGAP3

post-GPI attachment to proteins phospholipase 3

ClinVar Annotator: match by term: Melotia

PMID:25741868 PMID:30345601

NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797

PHACTR1

phosphatase and actin regulator 1

OMIM:618298

NCBI chr 6:12,716,767...13,287,837
Ensembl chr 6:12,716,312...13,290,446

PHGDH

phosphoglycerate dehydrogenase

OMIM:256520

NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218

PHOX2B

paired like homeobox 2B

OMIM:209880

NCBI chr 4:41,744,082...41,748,725
Ensembl chr 4:41,744,082...41,748,725

PIBF1

progesterone immunomodulatory binding factor 1

NCBI chr13:72,782,133...73,016,461
Ensembl chr13:72,782,133...73,016,461

PIEZO2

piezo type mechanosensitive ion channel component 2

OMIM:248700 ORPHA:2461

NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569

PIGB

phosphatidylinositol glycan anchor biosynthesis class B

OMIM:618580

NCBI chr15:55,319,222...55,355,648
Ensembl chr15:55,318,960...55,355,648

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

ClinVar Annotator: match by term: Melotia
ClinVar Annotator: match by term: Low-set ears

PMID:3041916 PMID:7666399 PMID:8893234 PMID:18414213 PMID:22444671 More...

NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

OMIM:614080

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

OMIM:615398 ORPHA:369837

NCBI chr20:45,416,141...45,426,241
Ensembl chr20:45,416,084...45,456,934

PIGU

phosphatidylinositol glycan anchor biosynthesis class U

OMIM:618590

NCBI chr20:34,560,542...34,677,092
Ensembl chr20:34,560,542...34,698,790

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

OMIM:269880

NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821

PITX1

paired like homeodomain 1

OMIM:119800

NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813

PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

ORPHA:731

NCBI chr 6:51,615,299...52,087,615
Ensembl chr 6:51,615,299...52,087,613

PLAA

phospholipase A2 activating protein

OMIM:617527

NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242

PLAG1 zinc finger

NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324

PLCB4

phospholipase C beta 4

OMIM:614669

NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593

PLCH1

phospholipase C eta 1

OMIM:619895

NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071

PLOD3

procollagen-lysine,2-oxoglutarate 5-dioxygenase 3

OMIM:612394

NCBI chr 7:101,205,984...101,217,581
Ensembl chr 7:101,205,977...101,218,420

PLVAP

plasmalemma vesicle associated protein

OMIM:618183

NCBI chr19:17,351,455...17,377,342
Ensembl chr19:17,351,450...17,377,342

plexin D1

NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676

POC1A

POC1 centriolar protein A

OMIM:614813

NCBI chr 3:52,075,226...52,154,423
Ensembl chr 3:52,075,226...52,154,690

POGZ

pogo transposable element derived with ZNF domain

OMIM:616364

NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494

POLE

DNA polymerase epsilon, catalytic subunit

OMIM:618336 ORPHA:85173

NCBI chr12:132,623,762...132,687,342
Ensembl chr12:132,623,753...132,687,376

POLR3A

RNA polymerase III subunit A

OMIM:264090 ORPHA:3455

NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522

POMGNT1

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

NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305

POMGNT2

protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)

NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085

POMK

protein O-mannose kinase

NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180

POMT1

protein O-mannosyltransferase 1

NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806

POMT2

protein O-mannosyltransferase 2

NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883

POR

cytochrome p450 oxidoreductase

OMIM:201750 ORPHA:95699

NCBI chr 7:75,915,155...75,986,855
Ensembl chr 7:75,899,200...75,986,855

PORCN

porcupine O-acyltransferase

OMIM:305600 ORPHA:2092

NCBI chr X:48,508,992...48,520,814
Ensembl chr X:48,508,959...48,520,814

PPM1D

protein phosphatase, Mg2+/Mn2+ dependent 1D

OMIM:617450

NCBI chr17:60,600,193...60,666,280
Ensembl chr17:60,600,193...60,666,280

PPP1CB

protein phosphatase 1 catalytic subunit beta

OMIM:617506

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

PPP1R12A

protein phosphatase 1 regulatory subunit 12A

OMIM:618820

NCBI chr12:79,773,563...79,935,460
Ensembl chr12:79,773,563...79,935,460

PPP1R21

protein phosphatase 1 regulatory subunit 21

OMIM:619383

NCBI chr 2:48,440,766...48,515,386
Ensembl chr 2:48,440,598...48,515,391

PPP2R3C

protein phosphatase 2 regulatory subunit B''gamma

OMIM:618419

NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

ORPHA:457279

NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342

peroxiredoxin 1

NCBI chr 1:45,511,051...45,522,890
Ensembl chr 1:45,510,914...45,542,732

PRIM1

DNA primase subunit 1

OMIM:620005

NCBI chr12:56,731,580...56,752,323
Ensembl chr12:56,730,438...56,752,374

PRKDC

protein kinase, DNA-activated, catalytic subunit

OMIM:615966

NCBI chr 8:47,773,111...47,960,136
Ensembl chr 8:47,773,111...47,960,178

PRKG2

protein kinase cGMP-dependent 2

OMIM:619636

NCBI chr 4:81,087,370...81,217,836
Ensembl chr 4:81,087,370...81,215,222

PRPS1

phosphoribosyl pyrophosphate synthetase 1

OMIM:300661 ORPHA:423479

NCBI chr X:107,628,510...107,651,026
Ensembl chr X:107,628,428...107,651,993

proline rich 12

NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439

PRRX1

paired related homeobox 1

OMIM:202650

NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421

PRUNE1

prune exopolyphosphatase 1

ORPHA:544469

NCBI chr 1:151,008,449...151,035,713
Ensembl chr 1:151,008,420...151,035,713

PSAT1

phosphoserine aminotransferase 1

OMIM:616038

NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093

PSMD12

proteasome 26S subunit, non-ATPase 12

OMIM:617516

NCBI chr17:67,337,916...67,366,577
Ensembl chr17:67,337,916...67,366,605

patched 1

NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057

PTEN

phosphatase and tensin homolog

ORPHA:744 ORPHA:79076

NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930

PTF1A

pancreas associated transcription factor 1a

OMIM:609069 ORPHA:65288

NCBI chr10:23,192,312...23,194,245
Ensembl chr10:23,192,312...23,194,245

PTH1R

parathyroid hormone 1 receptor

ORPHA:50945

NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799

PTPN11

protein tyrosine phosphatase non-receptor type 11

OMIM:151100 OMIM:163950

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

PUM1

pumilio RNA binding family member 1

OMIM:617931

NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991

PURA

purine rich element binding protein A

ORPHA:314655

NCBI chr 5:140,114,109...140,125,619
Ensembl chr 5:140,107,777...140,125,619

PUS7

pseudouridine synthase 7

OMIM:618342

NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271

PYCR2

pyrroline-5-carboxylate reductase 2

OMIM:616420 ORPHA:481152

NCBI chr 1:225,919,878...225,924,250
Ensembl chr 1:225,919,877...225,924,340

QARS1

glutaminyl-tRNA synthetase 1

OMIM:615760

NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130

glutamine rich 1

NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363

RAB23

RAB23, member RAS oncogene family

OMIM:201000

NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

OMIM:600118

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

OMIM:212720

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RAB5IF

RAB5 interacting factor

OMIM:616994

NCBI chr20:36,605,779...36,612,557
Ensembl chr20:36,605,779...36,612,557

RAC1

Rac family small GTPase 1

OMIM:617751

NCBI chr 7:6,374,527...6,403,967
Ensembl chr 7:6,374,527...6,403,967

RAD21

RAD21 cohesin complex component

OMIM:614701

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

OMIM:611553 OMIM:611554

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RALA

RAS like proto-oncogene A

OMIM:619311

NCBI chr 7:39,623,572...39,708,120
Ensembl chr 7:39,623,565...39,708,120

RALGAPA1

Ral GTPase activating protein catalytic subunit alpha 1

OMIM:618797

NCBI chr14:35,538,356...35,809,295
Ensembl chr14:35,538,352...35,809,304

RAPSN

receptor associated protein of the synapse

OMIM:618388

NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143

RARB

retinoic acid receptor beta

ORPHA:2470

NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932

RB1

RB transcriptional corepressor 1

ORPHA:1587

NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436

RBM10

RNA binding motif protein 10

OMIM:311900

NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813

RDH11

retinol dehydrogenase 11

ORPHA:436245

NCBI chr14:67,676,800...67,695,764
Ensembl chr14:67,676,800...67,695,793

RecQ like helicase 4

NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845

reelin

NCBI chr 7:103,471,789...103,989,658
Ensembl chr 7:103,471,381...103,989,658

RERE

arginine-glutamic acid dipeptide repeats

OMIM:616975

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

ret proto-oncogene

NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351

RIF1

replication timing regulatory factor 1

ClinVar Annotator: match by term: Melotia

PMID:24056153 PMID:25205138 PMID:25741868 PMID:28492532

NCBI chr 2:151,409,902...151,534,435
Ensembl chr 2:151,409,883...151,508,013

RIPK4

receptor interacting serine/threonine kinase 4

OMIM:263650

NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089

RIT1

Ras like without CAAX 1

OMIM:615355

NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404

RNASEH2A

ribonuclease H2 subunit A

OMIM:610333 ORPHA:51

NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640

RNASEH2B

ribonuclease H2 subunit B

NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120

RNASEH2C

ribonuclease H2 subunit C

NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818

RNU4ATAC

RNA, U4atac small nuclear

OMIM:210710 ORPHA:2636

NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007

RNU7-1

RNA, U7 small nuclear 1

NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878

ROR2

receptor tyrosine kinase like orphan receptor 2

OMIM:268310

NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228

RPGRIP1 like

NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938

RPL10

ribosomal protein L10

ORPHA:459070

NCBI chr X:154,398,065...154,402,339
Ensembl chr X:154,389,955...154,409,168

RPL11

ribosomal protein L11

NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835

RPL15

ribosomal protein L15

NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374

RPL18

ribosomal protein L18

NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184

RPL26

ribosomal protein L26

NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213

RPL27

ribosomal protein L27

NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959

RPL31

ribosomal protein L31

NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032

RPL35

ribosomal protein L35

NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981

RPL35A

ribosomal protein L35a

OMIM:612528 ORPHA:124

NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610

ribosomal protein L5

NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924

ribosomal protein L8

NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587

ribosomal protein L9

NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931

RPS10

ribosomal protein S10

NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069

RPS15A

ribosomal protein S15a

NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383

RPS17

ribosomal protein S17

NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459

RPS19

ribosomal protein S19

NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925

RPS20

ribosomal protein S20

NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510

RPS23

ribosomal protein S23

OMIM:617412

NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396

RPS24

ribosomal protein S24

NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813

RPS26

ribosomal protein S26

OMIM:613309 ORPHA:124

NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697

RPS27

ribosomal protein S27

NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155

RPS28

ribosomal protein S28

NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340

RPS29

ribosomal protein S29

NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164

ribosomal protein S7

NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920

RRAGC

Ras related GTP binding C

OMIM:620609

NCBI chr 1:38,838,198...38,859,772
Ensembl chr 1:38,838,198...38,859,772

RREB1

ras responsive element binding protein 1

NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980

R-spondin 2

NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642

RSPRY1

ring finger and SPRY domain containing 1

OMIM:616723 ORPHA:457395

NCBI chr16:57,186,152...57,240,469
Ensembl chr16:57,186,137...57,240,469

RUSC2

RUN and SH3 domain containing 2

OMIM:617773

NCBI chr 9:35,490,111...35,561,895
Ensembl chr 9:35,490,111...35,561,898

RXYLT1

ribitol xylosyltransferase 1

NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792

ryanodine receptor 1

NCBI chr19:38,433,691...38,587,564
Ensembl chr19:38,433,691...38,595,273

SAMHD1

SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1

NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893

SATB2

SATB homeobox 2

OMIM:612313 ORPHA:251019 ORPHA:251028

NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266

SCN4A

sodium voltage-gated channel alpha subunit 4

OMIM:620369

NCBI chr17:63,938,554...63,972,918
Ensembl chr17:63,938,554...63,972,918

SCNM1

sodium channel modifier 1

OMIM:620107

NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296

SCYL2

SCY1 like pseudokinase 2

OMIM:618766

NCBI chr12:100,267,177...100,341,715
Ensembl chr12:100,267,140...100,341,715

SEC24C

SEC24 homolog C, COPII coat complex component

NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161

septin 9

NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596

SETBP1

SET binding protein 1

OMIM:269150 OMIM:616078 ORPHA:436151 ORPHA:798

NCBI chr18:44,680,073...45,068,510
Ensembl chr18:44,680,173...45,068,510

SETD1A

SET domain containing 1A, histone lysine methyltransferase

OMIM:619056

NCBI chr16:30,957,754...30,984,664
Ensembl chr16:30,957,294...30,984,664

SETD5

SET domain containing 5

OMIM:615761 ORPHA:404440

NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240

SF3B4

splicing factor 3b subunit 4

OMIM:154400

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SH3PXD2B

SH3 and PX domains 2B

OMIM:249420

NCBI chr 5:172,325,181...172,454,525
Ensembl chr 5:172,325,000...172,454,525

SHOC2

SHOC2 leucine rich repeat scaffold protein

OMIM:607721, RGD:11071178

associated with Noonan syndrome and related diseases; DNA:mutation:cds:c.4A>G (p.S2G)(human)

HPO
RGD

PMID:20882035

NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307

SIAH1

siah E3 ubiquitin protein ligase 1

OMIM:619314

NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402

SIM1

SIM bHLH transcription factor 1

ORPHA:171829

NCBI chr 6:100,385,009...100,464,921
Ensembl chr 6:100,385,009...100,464,921

SKI

SKI proto-oncogene

OMIM:182212 ORPHA:2462

NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213

SKIC3

SKI3 subunit of superkiller complex

OMIM:222470

NCBI chr 5:95,463,894...95,554,977
Ensembl chr 5:95,461,755...95,555,050

SLC12A2

solute carrier family 12 member 2

OMIM:619080

NCBI chr 5:128,083,766...128,189,677
Ensembl chr 5:128,083,766...128,189,677

SLC18A3

solute carrier family 18 member A3

NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720

SLC1A4

solute carrier family 1 member 4

ORPHA:447997

NCBI chr 2:64,988,479...65,023,865
Ensembl chr 2:64,988,477...65,023,865

SLC25A1

solute carrier family 25 member 1

NCBI chr22:19,175,581...19,178,736
Ensembl chr22:19,175,581...19,178,739

SLC25A24

solute carrier family 25 member 24

OMIM:612289

NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849

SLC26A2

solute carrier family 26 member 2

ORPHA:56304 ORPHA:93307

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

SLC37A4

solute carrier family 37 member 4

OMIM:619525

NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906

SLC39A8

solute carrier family 39 member 8

ORPHA:468699

NCBI chr 4:102,251,041...102,345,482
Ensembl chr 4:102,251,080...102,431,258

SLC5A7

solute carrier family 5 member 7

NCBI chr 2:107,986,524...108,013,994
Ensembl chr 2:107,986,523...108,013,994

SLC6A9

solute carrier family 6 member 9

OMIM:617301

NCBI chr 1:43,996,483...44,031,462
Ensembl chr 1:43,991,500...44,031,467

SMAD family member 2

NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146

SMAD family member 4

NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045

SMARCA2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2

OMIM:619293

NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624

SMARCD2

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2

OMIM:617475

NCBI chr17:63,832,081...63,842,685
Ensembl chr17:63,832,081...63,843,065

SMC5

structural maintenance of chromosomes 5

OMIM:620185

NCBI chr 9:70,258,978...70,354,873
Ensembl chr 9:70,258,978...70,354,873

SMG8

SMG8 nonsense mediated mRNA decay factor

OMIM:619268

NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239

SMG9

SMG9 nonsense mediated mRNA decay factor

OMIM:616920

NCBI chr19:43,727,983...43,754,962
Ensembl chr19:43,727,983...43,754,962

SMOC1

SPARC related modular calcium binding 1

OMIM:206920

NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366

spermine synthase

NCBI chr X:21,940,709...21,994,837
Ensembl chr X:21,940,709...21,994,837

SNAP25

synaptosome associated protein 25

NCBI chr20:10,218,830...10,307,418
Ensembl chr20:10,172,395...10,308,258

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

OMIM:117650

NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853

SOD1

superoxide dismutase 1

OMIM:618598

NCBI chr21:31,659,693...31,668,931
Ensembl chr21:31,659,666...31,668,931

SON

SON DNA and RNA binding protein

OMIM:617140 ORPHA:500150

NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

OMIM:610733

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SOX11

SRY-box transcription factor 11

OMIM:615866

NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385

SOX4

SRY-box transcription factor 4

OMIM:618506

NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619

SOX5

SRY-box transcription factor 5

OMIM:616803

NCBI chr12:23,529,504...24,562,650
Ensembl chr12:23,529,504...24,562,544

SOX6

SRY-box transcription factor 6

OMIM:618971

NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591

SOX9

SRY-box transcription factor 9

OMIM:114290 ORPHA:140

NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416

spartin

NCBI chr13:36,301,638...36,370,180
Ensembl chr13:36,301,638...36,370,180

SPECC1L

sperm antigen with calponin homology and coiled-coil domains 1 like

ORPHA:1519

NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739

SPEN

spen family transcriptional repressor

OMIM:619312

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

SPINT2

serine peptidase inhibitor, Kunitz type 2

OMIM:270420

NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615

SPOP

speckle type BTB/POZ protein

OMIM:618829

NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163

SPRED1

sprouty related EVH1 domain containing 1

OMIM:611431

NCBI chr15:38,252,836...38,357,249
Ensembl chr15:38,252,836...38,357,249

SPRED2

sprouty related EVH1 domain containing 2

OMIM:619745

NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637

SRCAP

Snf2 related CREBBP activator protein

OMIM:136140 ORPHA:2044

NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409

SRD5A3

steroid 5 alpha-reductase 3

ClinVar Annotator: match by term: Low-set ears

PMID:25741868 PMID:28492532

OMIM:612379

NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100

SRD5A3-AS1

SRD5A3 antisense RNA 1

ClinVar Annotator: match by term: Low-set ears

PMID:25741868 PMID:28492532

NCBI chr 4:55,366,601...55,385,580
Ensembl chr 4:55,363,971...55,395,847

SRRM2

serine/arginine repetitive matrix 2

OMIM:620439

NCBI chr16:2,752,638...2,771,412
Ensembl chr16:2,752,626...2,772,538

STAC3

SH3 and cysteine rich domain 3

OMIM:255995

NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188

STAG1

STAG1 cohesin complex component

ORPHA:502434

NCBI chr 3:136,336,236...136,752,378
Ensembl chr 3:136,336,236...136,752,403

STAG2

STAG2 cohesin complex component

OMIM:301022 OMIM:301043

NCBI chr X:123,960,560...124,102,656
Ensembl chr X:123,960,212...124,422,664

STAM binding protein

NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659

STRA6

signaling receptor and transporter of retinol STRA6

OMIM:601186 ORPHA:2470

NCBI chr15:74,179,466...74,212,259
Ensembl chr15:74,179,466...74,212,267

STXBP1

syntaxin binding protein 1

ORPHA:495818

NCBI chr 9:127,611,912...127,696,029
Ensembl chr 9:127,579,370...127,696,027

SUFU

SUFU negative regulator of hedgehog signaling

NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535

SUPT16H

SPT16 homolog, facilitates chromatin remodeling subunit

OMIM:619480

NCBI chr14:21,351,476...21,384,019
Ensembl chr14:21,351,476...21,384,019

synaptotagmin 2

NCBI chr 1:202,590,596...202,710,454
Ensembl chr 1:202,590,596...202,710,454

TAB2

TGF-beta activated kinase 1 (MAP3K7) binding protein 2

ORPHA:228410

NCBI chr 6:149,217,926...149,411,607
Ensembl chr 6:149,218,641...149,411,613

TAF1

TATA-box binding protein associated factor 1

OMIM:300966 ORPHA:480907

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,222...71,532,374

transaldolase 1

NCBI chr11:747,464...765,012
Ensembl chr11:747,415...765,012

TAO kinase 1

NCBI chr17:29,390,363...29,551,903
Ensembl chr17:29,390,363...29,551,903

TAPT1

transmembrane anterior posterior transformation 1

OMIM:616897

NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410

taspase 1

NCBI chr20:13,104,772...13,638,932
Ensembl chr20:13,389,392...13,638,932

TBC1D24

TBC1 domain family member 24

OMIM:220500 ORPHA:79500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560

TBCE

tubulin folding cofactor E

OMIM:241410

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

TBX1

T-box transcription factor 1

OMIM:188400 ORPHA:567, RGD:155641255

DNA:frameshift mutation:CDS:p.Y4188fsX459

HPO
RGD

PMID:24637876

NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593

TBX15

T-box transcription factor 15

OMIM:260660 ORPHA:93333

NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556

TBX2

T-box transcription factor 2

OMIM:618223

NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466

TCF20

transcription factor 20

OMIM:618430

NCBI chr22:42,160,013...42,343,537
Ensembl chr22:42,160,013...42,343,616

TCTN1

tectonic family member 1

NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431

TCTN2

tectonic family member 2

OMIM:613885 ORPHA:475

NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399

TCTN3

tectonic family member 3

OMIM:258860 ORPHA:2753 ORPHA:475

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

TENM3

teneurin transmembrane protein 3

OMIM:615145

NCBI chr 4:181,447,613...182,803,024
Ensembl chr 4:182,143,987...182,803,024

TFAP2A

transcription factor AP-2 alpha

ClinVar Annotator: match by term: Melotia

PMID:25741868

OMIM:113620

NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659

TFAP2B

transcription factor AP-2 beta

OMIM:169100

NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619

TGDS

TDP-glucose 4,6-dehydratase

OMIM:616145

NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242

THUMPD1

THUMP domain containing 1

OMIM:619989

NCBI chr16:20,733,664...20,741,818
Ensembl chr16:20,702,816...20,742,084

TMCO1

transmembrane and coiled-coil domains 1

OMIM:213980

NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755

TMEM107

transmembrane protein 107

OMIM:617563

NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399

TMEM147

transmembrane protein 147

OMIM:620075

NCBI chr19:35,545,626...35,547,526
Ensembl chr19:35,545,600...35,547,526

TMEM165

transmembrane protein 165

OMIM:614727

NCBI chr 4:55,395,957...55,453,397
Ensembl chr 4:55,395,957...55,453,397

TMEM216

transmembrane protein 216

OMIM:608091

NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866

TMEM218

transmembrane protein 218

NCBI chr11:125,094,389...125,111,626
Ensembl chr11:125,094,389...125,111,763

TMEM231

transmembrane protein 231

ORPHA:2752

NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289

TMEM237

transmembrane protein 237

OMIM:614424 ORPHA:475

NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570

TMEM260

transmembrane protein 260

OMIM:617478

NCBI chr14:56,579,525...56,663,165
Ensembl chr14:56,488,354...56,650,606

TMEM67

transmembrane protein 67

ORPHA:1454 ORPHA:475

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

TMEM70

transmembrane protein 70

OMIM:614052 ORPHA:1194

NCBI chr 8:73,976,195...73,982,783
Ensembl chr 8:73,972,437...73,982,783

TMEM94

transmembrane protein 94

OMIM:618316

NCBI chr17:75,456,635...75,500,452
Ensembl chr17:75,441,159...75,500,452

TOE1

target of EGR1, exonuclease

OMIM:614969

NCBI chr 1:45,340,170...45,343,973
Ensembl chr 1:45,340,052...45,343,973

TOGARAM1

TOG array regulator of axonemal microtubules 1

OMIM:619185 ORPHA:475

NCBI chr14:44,962,190...45,074,431
Ensembl chr14:44,962,190...45,074,431

tropomyosin 2

NCBI chr 9:35,681,993...35,690,056
Ensembl chr 9:35,681,992...35,690,056

tropomyosin 3

NCBI chr 1:154,155,308...154,192,100
Ensembl chr 1:154,155,308...154,194,648

TPP1

tripeptidyl peptidase 1

ORPHA:168486

NCBI chr11:6,612,768...6,619,422
Ensembl chr11:6,612,768...6,619,448

TRAF7

TNF receptor associated factor 7

OMIM:618164

NCBI chr16:2,155,782...2,178,129
Ensembl chr16:2,155,698...2,178,129

TREX1

three prime repair exonuclease 1

NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645

TRIP11

thyroid hormone receptor interactor 11

OMIM:200600

NCBI chr14:91,965,991...92,040,059
Ensembl chr14:91,965,991...92,040,896

TRIP12

thyroid hormone receptor interactor 12

OMIM:617752

NCBI chr 2:229,763,837...229,923,186
Ensembl chr 2:229,763,837...229,923,239

TRIP13

thyroid hormone receptor interactor 13

OMIM:617598

NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357

TRPV6

transient receptor potential cation channel subfamily V member 6

OMIM:618188

NCBI chr 7:142,871,208...142,885,745
Ensembl chr 7:142,871,208...142,885,745

TRRAP

transformation/transcription domain associated protein

OMIM:618454

NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831

TSPEAR

thrombospondin type laminin G domain and EAR repeats

OMIM:620173

NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572

TSR2

TSR2 ribosome maturation factor

NCBI chr X:54,440,404...54,448,032
Ensembl chr X:54,440,404...54,448,032

TTC5

tetratricopeptide repeat domain 5

OMIM:619244

NCBI chr14:20,286,227...20,305,951
Ensembl chr14:20,256,558...20,305,960

TTI1

TELO2 interacting protein 1

OMIM:620445

NCBI chr20:37,983,021...38,033,456
Ensembl chr20:37,983,007...38,033,461

tubulin beta class I

NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538

TUBB3

tubulin beta 3 class III

ORPHA:300570

NCBI chr16:89,921,925...89,936,097
Ensembl chr16:89,921,392...89,938,761

TWIST1

twist family bHLH transcription factor 1

OMIM:101400 OMIM:617746 ORPHA:794

NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636

TWIST2

twist family bHLH transcription factor 2

OMIM:200110 OMIM:209885

NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534

TXNDC15

thioredoxin domain containing 15

OMIM:619879

NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635

UBA2

ubiquitin like modifier activating enzyme 2

OMIM:619959

NCBI chr19:34,428,381...34,471,251
Ensembl chr19:34,428,352...34,471,251

UBE3B

ubiquitin protein ligase E3B

OMIM:244450

NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705

UBR7

ubiquitin protein ligase E3 component n-recognin 7

OMIM:619189

NCBI chr14:93,207,256...93,229,215
Ensembl chr14:93,207,241...93,229,215

UFC1

ubiquitin-fold modifier conjugating enzyme 1

OMIM:618076

NCBI chr 1:161,153,978...161,158,856
Ensembl chr 1:161,152,776...161,158,856

UFD1

ubiquitin recognition factor in ER associated degradation 1

NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202

UGP2

UDP-glucose pyrophosphorylase 2

OMIM:618744

NCBI chr 2:63,840,969...63,891,560
Ensembl chr 2:63,840,952...63,891,562

UNC80

unc-80 homolog, NALCN channel complex subunit

OMIM:616801

NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

ORPHA:776

NCBI chr X:119,805,311...119,852,963
Ensembl chr X:119,834,022...119,852,998

USP7

ubiquitin specific peptidase 7

OMIM:616863

NCBI chr16:8,892,097...8,963,906
Ensembl chr16:8,892,097...8,975,328

USP9X

ubiquitin specific peptidase 9 X-linked

OMIM:300968 ORPHA:480880

NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579

VAC14

VAC14 component of PIKFYVE complex

ORPHA:3472

NCBI chr16:70,687,439...70,801,158
Ensembl chr16:70,687,439...70,801,160

VAMP1

vesicle associated membrane protein 1

NCBI chr12:6,462,237...6,470,677
Ensembl chr12:6,462,237...6,470,677

VANGL2

VANGL planar cell polarity protein 2

ORPHA:563612

NCBI chr 1:160,400,564...160,428,670
Ensembl chr 1:160,400,564...160,428,670

VARS1

valyl-tRNA synthetase 1

OMIM:617802

NCBI chr 6:31,777,518...31,795,752
Ensembl chr 6:31,777,518...31,795,752

VIPAS39

VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog

OMIM:613404

NCBI chr14:77,426,675...77,457,601
Ensembl chr14:77,426,675...77,457,952

VPS33B

VPS33B late endosome and lysosome associated

OMIM:208085

NCBI chr15:90,998,416...91,022,621
Ensembl chr15:90,998,673...91,022,603

VPS35L

VPS35 endosomal protein sorting factor like

ORPHA:7

NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793

WARS2

tryptophanyl tRNA synthetase 2, mitochondrial

ORPHA:572798

NCBI chr 1:119,031,216...119,140,672
Ensembl chr 1:119,031,216...119,140,654

WASHC4

WASH complex subunit 4

OMIM:615817

NCBI chr12:105,107,731...105,169,130
Ensembl chr12:105,107,324...105,169,130

WASHC5

WASH complex subunit 5

OMIM:220210 ORPHA:7

NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819

WBP11

WW domain binding protein 11

OMIM:619227

NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486

WD repeat domain 35

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WD repeat domain 37

NCBI chr10:1,056,385...1,132,372
Ensembl chr10:1,049,538...1,160,991

WD repeat domain 73

NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343

WNK3

WNK lysine deficient protein kinase 3

OMIM:309610

NCBI chr X:54,192,823...54,358,900
Ensembl chr X:54,192,823...54,358,642

Wnt family member 3

NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154

Wnt family member 4

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

WNT5A

Wnt family member 5A

OMIM:180700 ORPHA:3107

NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539

Wnt family member 7A

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

Wnt family member 7B

NCBI chr22:45,920,366...45,977,162
Ensembl chr22:45,920,366...45,977,162

Wnt family member 9B

NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730

XYLT2

xylosyltransferase 2

OMIM:605822 ORPHA:85194

NCBI chr17:50,346,126...50,361,185
Ensembl chr17:50,346,126...50,363,138

YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

ORPHA:217385

NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222

YY1

YY1 transcription factor

OMIM:617557 ORPHA:506358

NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788

ZBTB18

zinc finger and BTB domain containing 18

OMIM:612337 ORPHA:36367

NCBI chr 1:244,048,491...244,057,476
Ensembl chr 1:244,048,547...244,057,476

ZBTB24

zinc finger and BTB domain containing 24

OMIM:614069 ORPHA:2268

NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239

ZC4H2

zinc finger C4H2-type containing

OMIM:301041 OMIM:314580

NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713

ZDHHC9

zinc finger DHHC-type palmitoyltransferase 9

ORPHA:776

NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909

Zic family member 3

NCBI chr X:137,566,127...137,577,691
Ensembl chr X:137,566,127...137,577,691

ZMIZ1

zinc finger MIZ-type containing 1

OMIM:618659

NCBI chr10:79,068,966...79,316,519
Ensembl chr10:79,068,966...79,316,519

ZMPSTE24

zinc metallopeptidase STE24

OMIM:275210 ORPHA:1662

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

ZMYM2

zinc finger MYM-type containing 2

OMIM:619522

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

ZNF148

zinc finger protein 148

OMIM:617260

NCBI chr 3:125,225,669...125,375,354
Ensembl chr 3:125,225,669...125,375,325

ZNF292

zinc finger protein 292

OMIM:619188

NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943

ZNF462

zinc finger protein 462

OMIM:618619 ORPHA:502430

NCBI chr 9:106,860,158...107,013,634
Ensembl chr 9:106,863,166...107,013,634

ZNF699

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

Low-set, posteriorly rotated ears

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ABCC6

ATP binding cassette subfamily C member 6

ClinVar Annotator: match by term: Low-set, posteriorly rotated ears

PMID:10954200 PMID:12384774 PMID:16086317 PMID:16543900 PMID:18157818 More...

NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522

aggrecan

NCBI chr15:88,803,436...88,875,353
Ensembl chr15:88,803,436...88,875,353

ACTG2

actin gamma 2, smooth muscle

ORPHA:2604

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

AFF4

ALF transcription elongation factor 4

ORPHA:444077

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

AHI1

Abelson helper integration site 1

NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434

ALG9

ALG9 alpha-1,2-mannosyltransferase

ORPHA:79328

NCBI chr11:111,768,025...111,871,581
Ensembl chr11:111,782,195...111,871,581

ALX homeobox 1

NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784

ALX homeobox 3

NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672

ARID1B

AT-rich interaction domain 1B

ORPHA:251056

NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779

ARL6

ADP ribosylation factor like GTPase 6

NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229

ASXL1

ASXL transcriptional regulator 1

ORPHA:97297

NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319

B3GLCT

beta 3-glucosyltransferase

ORPHA:709

NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276

B9D1

B9 domain containing 1

NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193

B9D2

B9 domain containing 2

NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165

BAZ1B

bromodomain adjacent to zinc finger domain 1B

NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293

BBIP1

BBSome interacting protein 1

NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201

BBS1

Bardet-Biedl syndrome 1

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BBS10

Bardet-Biedl syndrome 10

NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415

BBS12

Bardet-Biedl syndrome 12

NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942

BBS2

Bardet-Biedl syndrome 2

NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667

BBS4

Bardet-Biedl syndrome 4

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475

BBS5

Bardet-Biedl syndrome 5

NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655

BBS7

Bardet-Biedl syndrome 7

NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487

BBS9

Bardet-Biedl syndrome 9

NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180

BCL7B

BAF chromatin remodeling complex subunit BCL7B

NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690

BCL6 corepressor

NCBI chr X:40,051,246...40,177,329
Ensembl chr X:40,049,815...40,177,329

BRAF

B-Raf proto-oncogene, serine/threonine kinase

ClinVar Annotator: match by term: Low-set, posteriorly rotated ears

PMID:16439621 PMID:16474404 PMID:17366577 PMID:17483702 PMID:17704260 More...

ORPHA:1340 ORPHA:500

NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929

BRD4

bromodomain containing 4

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123

BUB3

BUB3 mitotic checkpoint protein

NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467

BUD23

BUD23 rRNA methyltransferase and ribosome maturation factor

NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212

C2CD3

C2 domain containing 3 centriole elongation regulator

ORPHA:434179

NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210

CAMKMT

calmodulin-lysine N-methyltransferase

NCBI chr 2:44,361,947...44,772,592
Ensembl chr 2:44,361,947...44,772,592

CANT1

calcium activated nucleotidase 1

ORPHA:1425

NCBI chr17:78,991,716...79,009,764
Ensembl chr17:78,991,716...79,009,867

castor zinc finger 1

NCBI chr 1:10,636,604...10,796,646
Ensembl chr 1:10,636,604...10,796,650

Cbl proto-oncogene

NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926

CC2D2A

coiled-coil and C2 domain containing 2A

ORPHA:2318 ORPHA:564

NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552

CD96 molecule

NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750

CDC42

cell division cycle 42

ORPHA:487796

NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,052,627...22,101,360

CEP120

centrosomal protein 120

NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592

CEP19

centrosomal protein 19

NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250

CEP290

centrosomal protein 290

ORPHA:110 ORPHA:2318 ORPHA:564

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

CEP41

centrosomal protein 41

NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433

CEP57

centrosomal protein 57

NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693

CFAP418

cilia and flagella associated protein 418

NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201

CHD7

chromodomain helicase DNA binding protein 7

ORPHA:138

NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028

CHST14

carbohydrate sulfotransferase 14

ORPHA:2953

NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158

CLIP2

CAP-Gly domain containing linker protein 2

NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935

COG1

component of oligomeric golgi complex 1

ORPHA:263508

NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507

COL1A1

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Low-set, posteriorly rotated ears

PMID:8364588 PMID:25741868

NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376

complexin 1

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CSGALNACT1

chondroitin sulfate N-acetylgalactosaminyltransferase 1

ORPHA:1425

NCBI chr 8:19,404,161...19,757,908
Ensembl chr 8:19,404,161...19,758,029

CSPP1

centrosome and spindle pole associated protein 1

ORPHA:397715 ORPHA:564

NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778

CTBP1

C-terminal binding protein 1

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

CCCTC-binding factor

NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177

catenin delta 2

NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446

DHCR24

24-dehydrocholesterol reductase

ORPHA:35107

NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195

DHCR7

7-dehydrocholesterol reductase

ORPHA:818

NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868

DHODH

dihydroorotate dehydrogenase (quinone)

ORPHA:246

NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664

DLK1

delta like non-canonical Notch ligand 1

ORPHA:254525

NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224

DLL3

delta like canonical Notch ligand 3

NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481

DNAJC30

DnaJ heat shock protein family (Hsp40) member C30

NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453

DSE

dermatan sulfate epimerase

ORPHA:2953

NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861

endothelin 1

NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194

EED

embryonic ectoderm development

NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,278,813

EIF4H

eukaryotic translation initiation factor 4H

NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122

elastin

NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907

ERMARD

ER membrane associated RNA degradation

ORPHA:75857

NCBI chr 6:169,751,306...169,781,600
Ensembl chr 6:169,751,622...169,781,600

EXT1

exostosin glycosyltransferase 1

ORPHA:502

NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321

FAM149B1

family with sequence similarity 149 member B1

NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504

FGD1

FYVE, RhoGEF and PH domain containing 1

ORPHA:915

NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234

FGFR1

fibroblast growth factor receptor 1

ORPHA:2117

NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834

FKBP6

FKBP prolyl isomerase family member 6 (inactive)

NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637

FLI1

Fli-1 proto-oncogene, ETS transcription factor

ORPHA:2308

NCBI chr11:128,685,351...128,813,267
Ensembl chr11:128,686,535...128,813,267

FRAS1

Fraser extracellular matrix complex subunit 1

ORPHA:2052

NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269

FREM2

FRAS1 related extracellular matrix 2

ORPHA:2052

NCBI chr13:38,687,077...38,887,131
Ensembl chr13:38,687,077...38,887,131

FRMD4A

FERM domain containing 4A

ORPHA:466688

NCBI chr10:13,643,706...14,330,924
Ensembl chr10:13,643,706...14,462,142

GABRD

gamma-aminobutyric acid type A receptor subunit delta

NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758

GBA1

glucosylceramidase beta 1

ORPHA:85212

NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699

GLE1

GLE1 RNA export mediator

ORPHA:1486

NCBI chr 9:128,504,692...128,542,288
Ensembl chr 9:128,504,655...128,543,874

GLI3

GLI family zinc finger 3

ORPHA:672

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

GNAI3

G protein subunit alpha i3

ORPHA:137888

NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195

glypican 3

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

glypican 4

NCBI chr X:133,300,103...133,415,489
Ensembl chr X:133,300,103...133,415,489

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

NCBI chr12:66,347,431...67,069,338
Ensembl chr12:66,347,431...67,069,162

GTF2I

general transcription factor IIi

NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692

GTF2IRD1

GTF2I repeat domain containing 1

NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605

GTF2IRD2

GTF2I repeat domain containing 2

NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605

HBA1

hemoglobin subunit alpha 1

ORPHA:98791

NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522

HBA2

hemoglobin subunit alpha 2

ORPHA:98791

NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710

HDAC8

histone deacetylase 8

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HERC1

HECT and RLD domain containing E3 ubiquitin protein ligase family member 1

ORPHA:457359

NCBI chr15:63,608,618...63,833,948
Ensembl chr15:63,608,618...63,833,948

HES7

hes family bHLH transcription factor 7

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

HRAS

HRas proto-oncogene, GTPase

ORPHA:3071

NCBI chr11:532,242...535,576
Ensembl chr11:532,242...537,321

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1606 ORPHA:800

NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310

HYLS1

HYLS1 centriolar and ciliogenesis associated

ORPHA:2189

NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646

IFT172

intraflagellar transport 172

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

IFT74

intraflagellar transport 74

NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134

INPP5E

inositol polyphosphate-5-phosphatase E

NCBI chr 9:136,428,619...136,439,845
Ensembl chr 9:136,428,619...136,439,845

ITCH

itchy E3 ubiquitin protein ligase

ORPHA:228426

NCBI chr20:34,363,273...34,511,773
Ensembl chr20:34,363,235...34,511,773

KAT6A

lysine acetyltransferase 6A

ORPHA:457193

NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994

KCNAB2

potassium voltage-gated channel subfamily A regulatory beta subunit 2

NCBI chr 1:5,992,676...6,101,180
Ensembl chr 1:5,990,927...6,101,193

NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297

NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711

KIF7

kinesin family member 7

ORPHA:2189 ORPHA:2754

NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086

KRAS

KRAS proto-oncogene, GTPase

ORPHA:1340 ORPHA:648

NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

LIM domain kinase 1

NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525

LUZP1

leucine zipper protein 1

NCBI chr 1:23,083,642...23,178,122
Ensembl chr 1:23,084,030...23,177,808

LZTFL1

leucine zipper transcription factor like 1

NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042

LZTR1

leucine zipper like post translational regulator 1

NCBI chr22:20,982,297...20,999,032
Ensembl chr22:20,982,269...20,999,032

MAP2K1

mitogen-activated protein kinase kinase 1

ORPHA:1340

NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656

MAP2K2

mitogen-activated protein kinase kinase 2

ORPHA:1340 ORPHA:638

NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122

MAPRE2

microtubule associated protein RP/EB family member 2

ORPHA:2505

NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470

MEG3

maternally expressed 3

ORPHA:254525

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031

MESP2

mesoderm posterior bHLH transcription factor 2

NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754

METTL27

methyltransferase like 27

NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516

MGAT2

alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase

ORPHA:79329

NCBI chr14:49,620,799...49,623,481
Ensembl chr14:49,620,799...49,623,481

MKKS

MKKS centrosomal shuttling protein

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MKS1

MKS transition zone complex subunit 1

ORPHA:110 ORPHA:220493 ORPHA:564

NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605

MLXIPL

MLX interacting protein like

NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543

MMP23B

matrix metallopeptidase 23B

NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263

MRAS

muscle RAS oncogene homolog

NCBI chr 3:138,347,648...138,405,535
Ensembl chr 3:138,347,648...138,405,534

mevalonate kinase

NCBI chr12:109,573,272...109,598,125
Ensembl chr12:109,573,255...109,598,125

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

ORPHA:568

NCBI chr X:153,929,225...153,935,037
Ensembl chr X:153,929,225...153,935,080

NALCN

sodium leak channel, non-selective

ORPHA:371364

NCBI chr13:101,053,776...101,417,179
Ensembl chr13:101,053,776...101,416,508

NCF1

neutrophil cytosolic factor 1

NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315

NELFA

negative elongation factor complex member A

NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903

neurofibromin 1

NCBI chr17:31,094,927...31,377,677
Ensembl chr17:31,094,927...31,382,116

NIPBL

NIPBL cohesin loading factor

NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413

NPHP1

nephrocystin 1

ORPHA:110 ORPHA:220497

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NRAS

NRAS proto-oncogene, GTPase

NCBI chr 1:114,704,469...114,716,771
Ensembl chr 1:114,704,469...114,716,771

NSD1

nuclear receptor binding SET domain protein 1

NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213

NSD2

nuclear receptor binding SET domain protein 2

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

NSUN2

NOP2/Sun RNA methyltransferase 2

ORPHA:235

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

nucleoredoxin

NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776

OCRL

OCRL inositol polyphosphate-5-phosphatase

ORPHA:534

NCBI chr X:129,540,259...129,592,556
Ensembl chr X:129,539,849...129,592,561

OFD1

OFD1 centriole and centriolar satellite protein

NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955

OTX2

orthodenticle homeobox 2

ORPHA:990

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

phosphodiesterase 6D

NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272

podoplanin

NCBI chr 1:13,583,757...13,617,957
Ensembl chr 1:13,583,465...13,617,957

PEX1

peroxisomal biogenesis factor 1

NCBI chr 7:92,487,025...92,528,520
Ensembl chr 7:92,487,020...92,528,520

PEX10

peroxisomal biogenesis factor 10

NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

NCBI chr17:35,574,795...35,578,571
Ensembl chr17:35,574,795...35,578,863

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044

PEX26

peroxisomal biogenesis factor 26

NCBI chr22:18,077,990...18,105,396
Ensembl chr22:18,077,923...18,105,396

PEX3

peroxisomal biogenesis factor 3

NCBI chr 6:143,450,805...143,490,616
Ensembl chr 6:143,450,805...143,490,616

PEX5

peroxisomal biogenesis factor 5

NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574

PEX6

peroxisomal biogenesis factor 6

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

ORPHA:2059

NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118

PLAA

phospholipase A2 activating protein

ORPHA:521426

NCBI chr 9:26,903,372...26,947,242
Ensembl chr 9:26,903,372...26,947,242

PLCB4

phospholipase C beta 4

ORPHA:137888

NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593

PNPLA6

patatin like phospholipase domain containing 6

ORPHA:2377

NCBI chr19:7,534,164...7,561,767
Ensembl chr19:7,534,004...7,561,764

PPM1B

protein phosphatase, Mg2+/Mn2+ dependent 1B

NCBI chr 2:44,168,875...44,246,928
Ensembl chr 2:44,167,969...44,244,384

PPP1CB

protein phosphatase 1 catalytic subunit beta

ORPHA:2701

NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940

PR/SET domain 16

NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621

PREPL

prolyl endopeptidase like

NCBI chr 2:44,317,607...44,361,862
Ensembl chr 2:44,316,281...44,361,862

PRKCZ

protein kinase C zeta

NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395

PRRX1

paired related homeobox 1

ORPHA:990

NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421

PTPN11

protein tyrosine phosphatase non-receptor type 11

ORPHA:500 ORPHA:648

NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918

RAB18

RAB18, member RAS oncogene family

ORPHA:2510

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

ORPHA:1387 ORPHA:2510

NCBI chr 2:135,052,292...135,176,396
Ensembl chr 2:135,052,289...135,176,667

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

ORPHA:1387 ORPHA:2510

NCBI chr 1:220,148,293...220,272,453
Ensembl chr 1:220,148,293...220,272,529

RAD21

RAD21 cohesin complex component

ORPHA:199 ORPHA:502

NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

ORPHA:500 ORPHA:648

NCBI chr 3:12,583,601...12,664,117
Ensembl chr 3:12,582,101...12,664,201

RAI1

retinoic acid induced 1

ORPHA:1713

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

RASA2

RAS p21 protein activator 2

NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344

RBM10

RNA binding motif protein 10

ORPHA:2886

NCBI chr X:47,145,221...47,186,813
Ensembl chr X:47,145,221...47,186,813

RBM8A

RNA binding motif protein 8A

ORPHA:3320

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RERE

arginine-glutamic acid dipeptide repeats

ORPHA:1606 ORPHA:494344

NCBI chr 1:8,352,404...8,817,640
Ensembl chr 1:8,352,397...8,848,921

RFC2

replication factor C subunit 2

NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458

RIPPLY2

ripply transcriptional repressor 2

NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515

RIT1

Ras like without CAAX 1

NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

ORPHA:175

NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017

ROR2

receptor tyrosine kinase like orphan receptor 2

ORPHA:1507

NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228

RPGRIP1

RPGR interacting protein 1

NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301

RPGRIP1L

RPGRIP1 like

ORPHA:220497 ORPHA:564

NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938

RAS related

NCBI chr19:49,635,292...49,640,143
Ensembl chr19:49,635,292...49,640,143

RAS related 2

NCBI chr11:14,277,920...14,364,506
Ensembl chr11:14,277,922...14,364,506

RTL1

retrotransposon Gag like 1

ORPHA:254525

NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722

rotatin

NCBI chr18:70,003,031...70,205,687
Ensembl chr18:70,003,031...70,205,726

SCAPER

S-phase cyclin A associated protein in the ER

NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444

SCLT1

sodium channel and clathrin linker 1

NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600

SDCCAG8

SHH signaling and ciliogenesis regulator SDCCAG8

NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091

semaphorin 3E

NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139

semaphorin 5A

NCBI chr 5:9,035,033...9,546,075
Ensembl chr 5:9,035,033...9,546,075

SF3B4

splicing factor 3b subunit 4

ORPHA:245

NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803

SHOC2

SHOC2 leucine rich repeat scaffold protein

ORPHA:2701

NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307

SKI proto-oncogene

NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213

SLC25A24

solute carrier family 25 member 24

ORPHA:2963

NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849

SLC26A2

solute carrier family 26 member 2

ORPHA:628

NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455

SLC3A1

solute carrier family 3 member 1

NCBI chr 2:44,275,480...44,322,437
Ensembl chr 2:44,275,458...44,321,494

SMC1A

structural maintenance of chromosomes 1A

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMC3

structural maintenance of chromosomes 3

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMOC1

SPARC related modular calcium binding 1

ORPHA:1106

NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578

SPEN

spen family transcriptional repressor

NCBI chr 1:15,847,707...15,940,456
Ensembl chr 1:15,836,095...15,940,456

SPRED2

sprouty related EVH1 domain containing 2

NCBI chr 2:65,307,175...65,432,599
Ensembl chr 2:65,310,851...65,432,637

SRY

sex determining region Y

ORPHA:1772

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

syntaxin 1A

NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672

SUZ12

SUZ12 polycomb repressive complex 2 subunit

NCBI chr17:31,937,007...32,001,038
Ensembl chr17:31,937,007...32,001,038

TBC1D20

TBC1 domain family member 20

ORPHA:2510

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

TBCE

tubulin folding cofactor E

ORPHA:2323

NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443

TBL2

transducin beta like 2

NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791

TBR1

T-box brain transcription factor 1

ORPHA:1617

NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870

TCTN1

tectonic family member 1

NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431

TCTN2

tectonic family member 2

NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399

TCTN3

tectonic family member 3

ORPHA:2754 ORPHA:564

NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143

TFAP2A

transcription factor AP-2 alpha

ORPHA:1297

NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659

TGDS

TDP-glucose 4,6-dehydratase

ORPHA:1388

NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242

TMCO1

transmembrane and coiled-coil domains 1

ORPHA:1394

NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755

TMEM107

transmembrane protein 107

NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399

TMEM138

transmembrane protein 138

ORPHA:2318

NCBI chr11:61,362,374...61,376,870
Ensembl chr11:61,361,964...61,377,890

TMEM216

transmembrane protein 216

ORPHA:2318 ORPHA:2754 ORPHA:564

NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866

TMEM231

transmembrane protein 231

ORPHA:2318 ORPHA:564

NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289

TMEM237

transmembrane protein 237

ORPHA:220497 ORPHA:2318 ORPHA:564

NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570

TMEM270

transmembrane protein 270

NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890

TMEM67

transmembrane protein 67

NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234

TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586

TRIM32

tripartite motif containing 32

NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300

TRIP13

thyroid hormone receptor interactor 13

NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357

TRPS1

transcriptional repressor GATA binding 1

ORPHA:502

NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673

TRPV4

transient receptor potential cation channel subfamily V member 4

ORPHA:2635

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

TTC8

tetratricopeptide repeat domain 8

NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078

tubulin beta class I

NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538

TXNDC15

thioredoxin domain containing 15

NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635

UBE4B

ubiquitination factor E4B

NCBI chr 1:10,032,958...10,181,239
Ensembl chr 1:10,032,832...10,181,239

UMPS

uridine monophosphate synthetase

ORPHA:30

NCBI chr 3:124,730,452...124,749,273
Ensembl chr 3:124,730,433...124,749,273

UNC80

unc-80 homolog, NALCN channel complex subunit

ORPHA:371364

NCBI chr 2:209,771,832...209,999,296
Ensembl chr 2:209,771,832...209,999,300

USP9X

ubiquitin specific peptidase 9 X-linked

ORPHA:480880

NCBI chr X:41,085,445...41,236,579
Ensembl chr X:41,085,445...41,236,579

VPS37D

VPS37D subunit of ESCRT-I

NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112

WDPCP

WD repeat containing planar cell polarity effector

NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843

xylosyltransferase 1

NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960

ZNF423

zinc finger protein 423