Hypertelorism - Ontology Report - Rat Genome Database

NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707

ABCD4

ATP binding cassette subfamily D member 4

MIM:614857

NCBI chr14:74,285,269...74,302,934
Ensembl chr14:74,285,269...74,303,055

ACOX1

acyl-CoA oxidase 1

MIM:264470 ORPHA:2971

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

ACTA1

actin alpha 1, skeletal muscle

ORPHA:171433 ORPHA:171439

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

ACTA2

actin alpha 2, smooth muscle

NCBI chr10:88,935,074...88,991,337
Ensembl chr10:88,934,822...88,991,339

ACTB

actin beta

MIM:243310 ORPHA:2995 ORPHA:79107

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

ACTG1

actin gamma 1

MIM:614583 ORPHA:2995

NCBI chr17:81,509,971...81,512,799
Ensembl chr17:81,509,413...81,523,847

actin like 6B

NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448

ACY1

aminoacylase 1

MIM:609924 ORPHA:137754

NCBI chr 3:51,983,535...51,989,197
Ensembl chr 3:51,983,340...51,989,197

ADA2

adenosine deaminase 2

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

ADAMTS15

ADAM metallopeptidase with thrombospondin type 1 motif 15

MIM:620545

NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645

ADAMTS3

ADAM metallopeptidase with thrombospondin type 1 motif 3

MIM:618154 ORPHA:2136

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

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

MIM:616503

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

adenosine kinase

NCBI chr10:74,151,221...74,709,290
Ensembl chr10:74,151,202...74,709,963

ADNP

activity dependent neuroprotector homeobox

MIM:615873

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

AFF3

ALF transcription elongation factor 3

MIM:619297

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

AFF4

ALF transcription elongation factor 4

MIM:616368

NCBI chr 5:132,875,395...132,963,634
Ensembl chr 5:132,875,395...132,963,634

AGA

aspartylglucosaminidase

ORPHA:93

NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437

AHDC1

AT-hook DNA binding motif containing 1

MIM:615829 ORPHA:412069

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

AIFM1

apoptosis inducing factor mitochondria associated 1

MIM: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...104,795,759

AKT3

AKT serine/threonine kinase 3

ORPHA:83473

NCBI chr 1:243,488,233...243,851,079
Ensembl chr 1:243,488,233...243,851,079

ALDH18A1

aldehyde dehydrogenase 18 family member A1

MIM:219150

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

ALDH6A1

aldehyde dehydrogenase 6 family member A1

MIM:614105

NCBI chr14:74,056,847...74,084,453
Ensembl chr14:74,056,847...74,084,492

ALG1

ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase

MIM:608540

NCBI chr16:5,071,843...5,087,379
Ensembl chr16:5,033,702...5,087,379

ALG13

ALG13 UDP-N-acetylglucosaminyltransferase subunit

MIM:300884 ORPHA:324422

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

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

MIM: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

MIM:263210 MIM:608776 ORPHA:79328

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

ALX1

ALX homeobox 1

MIM:613456 ORPHA:306542

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

ALX3

ALX homeobox 3

MIM:136760 ORPHA:391474

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

ALX4

ALX homeobox 4

MIM:609597 MIM: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

MIM:300373

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

AMOTL1

angiomotin like 1

ClinVar Annotator: match by term: Hypertelorism

PMID:25741868 PMID:28492532 PMID:33026150 PMID:36751037

NCBI chr11:94,706,460...94,876,748
Ensembl chr11:94,706,431...94,876,748

ANAPC7

anaphase promoting complex subunit 7

MIM:619699

NCBI chr12:110,372,900...110,403,708
Ensembl chr12:110,372,900...110,403,730

ankyrin 1

NCBI chr 8:41,653,225...41,896,741
Ensembl chr 8:41,653,220...41,896,741

ANKH

ANKH inorganic pyrophosphate transport regulator

MIM:123000 ORPHA:1522

NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778

ANKRD11

ankyrin repeat domain containing 11

MIM:148050 ORPHA:2332, RGD:11068938

DNA:deletions, SNPs:CDS:multiple

HPO
RGD

PMID:21782149

NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561

ANTXR1

ANTXR cell adhesion molecule 1

MIM:230740 ORPHA:2067

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

AP1G1

adaptor related protein complex 1 subunit gamma 1

MIM:619548

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

AP4S1

adaptor related protein complex 4 subunit sigma 1

MIM:614067

NCBI chr14:31,025,106...31,096,450
Ensembl chr14:31,025,106...31,130,996

APC

APC regulator of WNT signaling pathway

ORPHA:261584 ORPHA:3258

NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239

ARID1B

AT-rich interaction domain 1B

MIM:135900 ORPHA:251056

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

ARF like GTPase 6

NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229

ARVCF

ARVCF delta catenin family member

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

ASCC3

activating signal cointegrator 1 complex subunit 3

MIM:620700

NCBI chr 6:100,508,194...100,881,329
Ensembl chr 6:100,508,194...100,881,372

ASH1L

ASH1 like histone lysine methyltransferase

MIM:617796

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

ASNS

asparagine synthetase (glutamine-hydrolyzing)

MIM:615574

NCBI chr 7:97,851,677...97,928,441
Ensembl chr 7:97,851,677...97,872,542

ASXL1

ASXL transcriptional regulator 1

MIM:605039 ORPHA:97297

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

ASXL2

ASXL transcriptional regulator 2

MIM:617190

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

ASXL3

ASXL transcriptional regulator 3

MIM:615485 ORPHA:352577

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

ATP6V0A2

ATPase H+ transporting V0 subunit a2

MIM: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

MIM: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:3473 ORPHA:79500

NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399

ATP6V1E1

ATPase H+ transporting V1 subunit E1

MIM:617402 ORPHA:357074

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

ATRX

ATRX chromatin remodeler

MIM:301040 MIM:309580 ORPHA:847, RGD:13442490

DNA:point muation:exon:3868G>A (p.R1272Q) (human)

HPO
RGD

PMID:26997013

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

MIM:615834 ORPHA:352490

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

arginine vasopressin

NCBI chr20:3,082,556...3,084,724
Ensembl chr20:3,082,556...3,084,724

axin 1

NCBI chr16:287,440...352,723
Ensembl chr16:287,440...352,723

B3GAT3

beta-1,3-glucuronyltransferase 3

MIM:245600

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

B3GLCT

beta 3-glucosyltransferase

MIM:261540 ORPHA:709

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 9:33,100,493...33,167,336

B4GALT7

beta-1,4-galactosyltransferase 7

MIM:130070

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

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

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 chr15:72,686,186...72,742,006

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

MIM:615984 ORPHA:110

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

BCAS3

BCAS3 microtubule associated cell migration factor

MIM:619641

NCBI chr17:60,677,851...61,392,831
Ensembl chr17:60,677,453...61,392,838

BCL11B

BCL11 transcription factor B

MIM:617237 MIM:618092

NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197

BCORL1

BCL6 corepressor like 1

MIM:301029

NCBI chr X:129,980,313...130,058,071
Ensembl chr X:129,981,107...130,058,071

biglycan

NCBI chr X:153,494,980...153,509,546
Ensembl chr X:153,494,980...153,509,546

BICRA

BRD4 interacting chromatin remodeling complex associated protein

MIM:619325

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

B cell linker

NCBI chr10:96,189,171...96,271,569
Ensembl chr10:96,189,171...96,271,587

BLTP1

bridge-like lipid transfer protein family member 1

MIM:617822

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

BMP2

bone morphogenetic protein 2

ORPHA:261295

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

BMP4

bone morphogenetic protein 4

ORPHA:828

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

BMPER

BMP binding endothelial regulator

MIM: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 chr10:86,755,786...86,932,825

BNC2

basonuclin zinc finger protein 2

ORPHA:93110

NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843

BPTF

bromodomain PHD finger transcription factor

MIM:617755 ORPHA:529962

NCBI chr17:67,825,503...67,984,378
Ensembl chr17:67,825,503...67,984,378

BRAF

B-Raf proto-oncogene, serine/threonine kinase

MIM:115150 MIM:163950 MIM:613706 MIM:613707 ORPHA:1340 ORPHA:500

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

BRCA1

BRCA1 DNA repair associated

MIM:617883 ORPHA:84

NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245

BRCA2

BRCA2 DNA repair associated

NCBI chr13:32,315,077...32,400,268
Ensembl chr13:32,315,086...32,400,268

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

BRD4

bromodomain containing 4

MIM:620568

NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545

BRIP1

BRCA1 interacting DNA helicase 1

NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559

BRPF1

bromodomain and PHD finger containing 1

MIM: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

MIM:257300

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

C12orf57

chromosome 12 open reading frame 57

MIM:218340

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

CACNA1G

calcium voltage-gated channel subunit alpha1 G

MIM:618087

NCBI chr17:50,560,715...50,627,474
Ensembl chr17:50,560,715...50,627,474

CAMTA1

calmodulin binding transcription activator 1

MIM:614756

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

CAPRIN1

cell cycle associated protein 1

MIM:620782

NCBI chr11:34,051,731...34,102,610
Ensembl chr11:34,051,731...34,102,610

CARS1

cysteinyl-tRNA synthetase 1

NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613

CASK

calcium/calmodulin dependent serine protein kinase

MIM:300422 MIM:300749 ORPHA:163937

NCBI chr X:41,514,934...41,923,554
Ensembl chr X:41,514,934...41,923,554

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

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

MIM: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

MIM:300963 ORPHA:7

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

CCDC32

coiled-coil domain containing 32

MIM:619123

NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054

CCDC47

coiled-coil domain containing 47

MIM:618268

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

cyclin D2

NCBI chr12:4,273,762...4,305,353
Ensembl chr12:4,269,771...4,305,353

cyclin K

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

CD79a molecule

NCBI chr19:41,877,279...41,881,372
Ensembl chr19:41,877,279...41,881,372

CD79b molecule

NCBI chr17:63,928,740...63,932,331
Ensembl chr17:63,928,738...63,932,336

CDC42

cell division cycle 42

MIM:616737 ORPHA:487796

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

CDC42BPB

CDC42 binding protein kinase beta

MIM:619841

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

CDCA7

cell division cycle associated 7

MIM:616910 ORPHA:2268

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

CDH1

cadherin 1

MIM:119580 ORPHA:1997

NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537

CDH11

cadherin 11

MIM:211380 MIM:619736 ORPHA:1299

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

MIM:617694

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

CDK13

cyclin dependent kinase 13

MIM:617360, RGD:155631312

DNA:Mutations:cds :

HPO
RGD

PMID:28807008

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

CDK19

cyclin dependent kinase 19

MIM:618916

NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958

CEMIP2

cell migration inducing hyaluronidase 2

ClinVar Annotator: match by term: Hypertelorism

NCBI chr 9:71,683,366...71,769,466
Ensembl chr 9:71,683,366...71,816,690

centromere protein F

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

CEP120

centrosomal protein 120

MIM:616300

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:564

NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099

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

CHD3

chromodomain helicase DNA binding protein 3

MIM:618205

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

CHD4

chromodomain helicase DNA binding protein 4

MIM:617159

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

CHD7

chromodomain helicase DNA binding protein 7

MIM:214800 ORPHA:138 ORPHA:432

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

CHD8

chromodomain helicase DNA binding protein 8

MIM:615032 ORPHA:261229

NCBI chr14:21,385,199...21,456,123
Ensembl chr14:21,385,194...21,456,126

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

MIM:253290

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

CHRNA7

cholinergic receptor nicotinic alpha 7 subunit

MIM:612001

NCBI chr15:32,030,483...32,173,018
Ensembl chr15:31,923,438...32,173,018

CHRND

cholinergic receptor nicotinic delta subunit

MIM: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

MIM:253290 MIM: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

PMID:20004762 PMID:26373698

DNA:missense mutations, deletion:CDS:multiple
DNA:frameshift mutations, missense mutations:CDS:multiple

HPO
RGD

MIM:601776 ORPHA:2953, RGD:155663488, RGD:11061906

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

CHST3

carbohydrate sulfotransferase 3

MIM:143095 MIM:245600 ORPHA:263463

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

CHSY1

chondroitin sulfate synthase 1

MIM:605282

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

CIT

citron rho-interacting serine/threonine kinase

MIM:617090

NCBI chr12:119,685,791...119,877,320
Ensembl chr12:119,685,791...119,877,320

CLCN3

chloride voltage-gated channel 3

MIM:619512

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

CLCN6

chloride voltage-gated channel 6

MIM:619173

NCBI chr 1:11,806,191...11,843,130
Ensembl chr 1:11,806,096...11,848,079

CLCN7

chloride voltage-gated channel 7

MIM:618541

NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077

CNOT3

CCR4-NOT transcription complex subunit 3

MIM:618672

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

contactin 1

NCBI chr12:40,692,439...41,072,415
Ensembl chr12:40,692,439...41,072,415

CNTNAP2

contactin associated protein 2

MIM:610042 ORPHA:163681

NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998

COG1

component of oligomeric golgi complex 1

MIM:611209 ORPHA:263508

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

COG3

component of oligomeric golgi complex 3

MIM:620546

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

COG8

component of oligomeric golgi complex 8

MIM:611182

NCBI chr16:69,326,428...69,339,564
Ensembl chr16:69,320,140...69,339,583

COL11A1

collagen type XI alpha 1 chain

ClinVar Annotator: match by term: Hypertelorism

MIM:154780 ORPHA:2021 ORPHA:560

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

COL1A1

collagen type I alpha 1 chain

ClinVar Annotator: match by term: Increased distance between eyes

PMID:8364588 PMID:25741868

ORPHA:1899

NCBI chr17:50,184,101...50,201,631
Ensembl chr17:50,184,101...50,201,632

COL1A2

collagen type I alpha 2 chain

ORPHA:1899

NCBI chr 7:94,394,895...94,431,227
Ensembl chr 7:94,394,895...94,431,227

COL25A1

collagen type XXV alpha 1 chain

ORPHA:1143

NCBI chr 4:108,808,725...109,302,658
Ensembl chr 4:108,808,725...109,302,752

COL27A1

collagen type XXVII alpha 1 chain

MIM:615155

NCBI chr 9:114,154,098...114,312,511
Ensembl chr 9:114,155,537...114,312,511

COL2A1

collagen type II alpha 1 chain

ORPHA:93346 ORPHA:94068

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

COL3A1

collagen type III alpha 1 chain

ORPHA:286

NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746

COL5A1

collagen type V alpha 1 chain

ClinVar Annotator: match by term: Hypertelorism

PMID:25741868 PMID:28492532

NCBI chr 9:134,641,803...134,844,843
Ensembl chr 9:134,641,803...134,844,843

COLEC10

collectin subfamily member 10

MIM:248340 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

MIM:265050 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

COX7B

cytochrome c oxidase subunit 7B

MIM:300887

NCBI chr X:77,899,468...77,907,376
Ensembl chr X:77,899,440...77,907,376

CPAP

centrosome assembly and centriole elongation protein

MIM:608393

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

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

MIM:277170 ORPHA:2754

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

CPLX1

complexin 1

MIM:194190 MIM:617976 ORPHA:280

NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129

CREBBP

CREB binding protein

MIM:180849 ORPHA:353277 ORPHA:592574

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

CSNK2A1

casein kinase 2 alpha 1

MIM:617062

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

CSPP1

centrosome and spindle pole associated protein 1

MIM:615636 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

MIM:194190 ORPHA:280

NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333

CTCF

CCCTC-binding factor

MIM:615502 ORPHA:363611

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

CTNND1

catenin delta 1

MIM:617681 ORPHA:1997

NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546

catenin delta 2

NCBI chr 5:10,971,836...11,904,446
Ensembl chr 5:10,971,836...11,904,446

CTR9

CTR9 homolog, Paf1/RNA polymerase II complex component

ClinVar Annotator: match by term: Hypertelorism

NCBI chr11:10,751,246...10,779,746
Ensembl chr11:10,751,018...10,801,625

CTU2

cytosolic thiouridylase subunit 2

MIM:618142

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

DBR1

debranching RNA lariats 1

MIM:620510

NCBI chr 3:138,160,988...138,174,921
Ensembl chr 3:138,160,988...138,174,949

DCHS1

dachsous cadherin-related 1

MIM:601390 ORPHA:314679

NCBI chr11:6,621,330...6,655,809
Ensembl chr11:6,621,330...6,655,809

DDR2

discoidin domain receptor tyrosine kinase 2

MIM:271665

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

MIM:300958

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

DDX59

DEAD-box helicase 59

MIM:174300 ORPHA:2919

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

DEAF1

DEAF1 transcription factor

ORPHA:819

NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118

DEF6

DEF6 guanine nucleotide exchange factor

MIM:619573

NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771

DEPDC5

DEP domain containing 5, GATOR1 subcomplex subunit

MIM:620504

NCBI chr22:31,753,968...31,908,033
Ensembl chr22:31,753,867...31,908,033

DHCR7

7-dehydrocholesterol reductase

MIM:270400 ORPHA:818

NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868

DEAH-box helicase 37

NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131

DExH-box helicase 9

NCBI chr 1:182,839,347...182,887,982
Ensembl chr 1:182,839,347...182,887,982

DICER1

dicer 1, ribonuclease III

MIM:618272

NCBI chr14:95,086,228...95,158,010
Ensembl chr14:95,086,228...95,158,010

DLX4

distal-less homeobox 4

MIM:616788

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

DNAJC21

DnaJ heat shock protein family (Hsp40) member C21

MIM:617052

NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964

DNMT3A

DNA methyltransferase 3 alpha

MIM:615879 ORPHA:404443

NCBI chr 2:25,227,874...25,342,590
Ensembl chr 2:25,227,855...25,342,590

DNMT3B

DNA methyltransferase 3 beta

MIM:242860 ORPHA:2268

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

DOCK6

dedicator of cytokinesis 6

MIM:614219

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

docking protein 7

NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473

double PHD fingers 2

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

DPH1

diphthamide biosynthesis 1

MIM:616901 ORPHA:459061

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

DPH2

diphthamide biosynthesis 2

ORPHA:459061

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

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

MIM:608799 ORPHA:79322

NCBI chr20:50,934,855...50,958,564
Ensembl chr20:50,934,867...50,959,140

DPYD

dihydropyrimidine dehydrogenase

ORPHA:1675

NCBI chr 1:97,077,743...97,921,059
Ensembl chr 1:97,077,743...97,995,000

DPYSL5

dihydropyrimidinase like 5

MIM:619435 ORPHA:7

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

DSE

dermatan sulfate epimerase

MIM:615539 ORPHA:2953

NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861

DUSP6

dual specificity phosphatase 6

NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501

DVL1

dishevelled segment polarity protein 1

MIM:180700 MIM:616331 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

MIM:616894 ORPHA:3107

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

EBF3

EBF transcription factor 3

MIM:617330

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

EBP

EBP cholestenol delta-isomerase

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

MIM:619493

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

EED

embryonic ectoderm development

MIM:617561

NCBI chr11:86,244,753...86,287,615
Ensembl chr11:86,201,212...86,279,807

EFEMP2

EGF containing fibulin extracellular matrix protein 2

MIM:614437

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

EFNB1

ephrin B1

MIM:304110 ORPHA:1520

NCBI chr X:68,829,021...68,842,160
Ensembl chr X:68,829,021...68,842,160

EHMT1

euchromatic histone lysine methyltransferase 1

MIM:610253 ORPHA:96147

NCBI chr 9:137,619,005...137,836,127
Ensembl chr 9:137,618,992...137,870,016

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

MIM:226980

NCBI chr 2:88,556,741...88,628,145
Ensembl chr 2:88,556,741...88,691,518

EIF5A

eukaryotic translation initiation factor 5A

MIM:619376

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

ELN

elastin

ClinVar Annotator: match by term: Hypertelorism

PMID:11175284 PMID:16199547 PMID:24033266 PMID:25741868 PMID:28492532 More...

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

ELP4

elongator acetyltransferase complex subunit 4

ClinVar Annotator: match by term: Hypertelorism

PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More...

NCBI chr11:31,509,767...31,790,324
Ensembl chr11:31,509,755...31,790,324

EMC1

ER membrane protein complex subunit 1

MIM:616875

NCBI chr 1:19,215,660...19,251,524
Ensembl chr 1:19,215,660...19,251,552

EP300

E1A binding protein p300

MIM:180849 ORPHA:353284

NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077

EPB41L1

erythrocyte membrane protein band 4.1 like 1

MIM:614257

NCBI chr20:36,091,414...36,232,799
Ensembl chr20:36,091,504...36,232,799

EPG5

ectopic P-granules 5 autophagy tethering factor

MIM:242840 ORPHA:1493

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

ERCC2

ERCC excision repair 2, TFIIH core complex helicase subunit

NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918

ERCC3

ERCC excision repair 3, TFIIH core complex helicase subunit

NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

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

ERF

ETS2 repressor factor

MIM:600775 MIM:617180 ORPHA:207

NCBI chr19:42,247,569...42,255,128
Ensembl chr19:42,247,569...42,255,128

ERGIC1

endoplasmic reticulum-golgi intermediate compartment 1

ORPHA:1143

NCBI chr 5:172,834,251...172,952,683
Ensembl chr 5:172,834,251...172,952,792

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

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

MIM:216100 MIM:268300 ORPHA:2319 ORPHA:3103

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

EXOC2

exocyst complex component 2

MIM:619306

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

exosome component 9

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

EXT2

exostosin glycosyltransferase 2

MIM:616682 ORPHA:466926

NCBI chr11:44,095,678...44,251,962
Ensembl chr11:44,095,648...44,251,962

EXTL3

exostosin like glycosyltransferase 3

MIM:617425

NCBI chr 8:28,607,736...28,755,599
Ensembl chr 8:28,600,469...28,756,561

EZH2

enhancer of zeste 2 polycomb repressive complex 2 subunit

MIM:277590 ORPHA:3447

NCBI chr 7:148,807,383...148,884,291
Ensembl chr 7:148,807,257...148,884,321

FAM111A

FAM111 trypsin like peptidase A

ORPHA:93325

NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039

FAM149B1

family with sequence similarity 149 member B1

ORPHA:2754

NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504

FAM20C

FAM20C golgi associated secretory pathway kinase

MIM:259775

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

FANCA

FA complementation group A

NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977

FANCB

FA complementation group B

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

FANCC

FA complementation group C

NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796

FANCD2

FA complementation group D2

MIM:227646 ORPHA:84

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

FANCE

FA complementation group E

NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104

FANCF

FA complementation group F

NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823

FANCG

FA complementation group G

NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004

FANCI

FA complementation group I

NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261

FANCL

FA complementation group L

MIM:614083 ORPHA:84

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

FANCM

FA complementation group M

NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890

FAR1

fatty acyl-CoA reductase 1

MIM:616154 ORPHA:438178

NCBI chr11:13,668,668...13,732,346
Ensembl chr11:13,668,659...13,732,346

FAT4

FAT atypical cadherin 4

MIM:615546 MIM:616006 ORPHA:2136 ORPHA:314679

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

FBN1

fibrillin 1

MIM:614185 ORPHA:2462 ORPHA:91387

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

FBXL4

F-box and leucine rich repeat protein 4

MIM:615471

NCBI chr 6:98,868,535...98,947,946
Ensembl chr 6:98,868,535...98,948,006

F-box protein 11

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

F-box protein 31

NCBI chr16:87,326,987...87,392,121
Ensembl chr16:87,326,987...87,392,142

FGD1

FYVE, RhoGEF and PH domain containing 1

MIM:305400 ORPHA:915

NCBI chr X:54,445,454...54,496,234
Ensembl chr X:54,445,454...54,496,234

FGF17

fibroblast growth factor 17

NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809

FGF20

fibroblast growth factor 20

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

FGF3

fibroblast growth factor 3

ORPHA:90024

NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416

FGF8

fibroblast growth factor 8

NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371

FGFR1

fibroblast growth factor receptor 1

MIM:101600 MIM:166250 MIM:615465 ORPHA:2117 ORPHA:2645 ORPHA:432 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: Hypertelorism

MIM:101200 MIM:101400 MIM:101600 MIM:123500 MIM:123790 MIM:149730 MIM:614592 ORPHA:1540 ORPHA:1555 ORPHA:168624 ORPHA:207 ORPHA:313855 ORPHA:794 ORPHA:87 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

MIM:602849 MIM:612247 ORPHA:35099 ORPHA:53271 ORPHA:794 ORPHA:93262

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

FGFRL1

fibroblast growth factor receptor like 1

MIM:194190

NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898

fumarate hydratase

MIM:606812

NCBI chr 1:241,497,603...241,519,755
Ensembl chr 1:241,497,511...241,519,799

FIBP

FGF1 intracellular binding protein

MIM:617107 ORPHA:500095

NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531

FIG4

FIG4 phosphoinositide 5-phosphatase

MIM:216340 ORPHA:3472

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

FILIP1

filamin A interacting protein 1

MIM:620775

NCBI chr 6:75,291,859...75,493,800
Ensembl chr 6:75,291,859...75,493,800

folliculin

NCBI chr17:17,212,212...17,237,330
Ensembl chr17:17,212,212...17,237,188

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

FLII

FLII actin remodeling protein

ORPHA:819

NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738

FLNA

filamin A

PMID:15654694 PMID:16835913

DNA:deletion:cds:c.4904_4912del (human)
DNA:missense mutations, deletions:cds:multiple (human)

HPO
RGD

MIM:300048 MIM:300244 MIM:304120 MIM:305620 MIM:309350 MIM:311300 MIM:314400 ORPHA:1826 ORPHA:2484 ORPHA:555877 ORPHA:88630 ORPHA:90650 ORPHA:90652, RGD:11565126, RGD:11063279

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

FLNB

filamin B

MIM:108720 MIM:150250 MIM:272460 ORPHA:1190 ORPHA:503

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

forkhead box C1

NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897

forkhead box E1

NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717

forkhead box E3

NCBI chr 1:47,416,285...47,418,052
Ensembl chr 1:47,416,285...47,418,052

forkhead box F1

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

FOXP1

forkhead box P1

MIM:613670 ORPHA:391372

NCBI chr 3:70,954,708...71,583,978
Ensembl chr 3:70,954,693...71,583,978

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

MIM:620113

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

FRAS1

Fraser extracellular matrix complex subunit 1

MIM:219000 ORPHA:2052

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

FREM1

FRAS1 related extracellular matrix 1

MIM:248450 MIM:614485 ORPHA:2717

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

FREM2

FRAS1 related extracellular matrix 2

ORPHA:2052

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

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

MIM:164745 ORPHA:3107 ORPHA:93328

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

GAD1

glutamate decarboxylase 1

MIM:619124

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

GALNT2

polypeptide N-acetylgalactosaminyltransferase 2

MIM: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

GATA6

GATA binding protein 6

MIM:217095

NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528

GATAD2B

GATA zinc finger domain containing 2B

MIM:615074 ORPHA:363686

NCBI chr 1:153,804,725...153,922,972
Ensembl chr 1:153,789,030...153,923,360

GBA1

glucosylceramidase beta 1

MIM: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

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

GJA1

gap junction protein alpha 1

MIM:218400 ORPHA:1522 ORPHA:2710

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

GJA5

gap junction protein alpha 5

MIM: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

MIM:612474

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

glycerol kinase

MIM: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

ORPHA:1486

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

GLI2

GLI family zinc finger 2

ClinVar Annotator: match by term: Hypertelorism

NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653

GLI3

GLI family zinc finger 3

MIM:174200 MIM:175700 ORPHA:36 ORPHA:380 ORPHA:672

NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100

GNE

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

MIM:269921 ORPHA:3166

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

GNPTAB

N-acetylglucosamine-1-phosphate transferase subunits alpha and beta

MIM:252500

NCBI chr12:101,745,499...101,830,959
Ensembl chr12:101,745,499...101,830,959

GNRH1

gonadotropin releasing hormone 1

NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654

GNRHR

gonadotropin releasing hormone receptor

NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388

GNS

glucosamine (N-acetyl)-6-sulfatase

MIM:252940

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

GON7

GON7 subunit of KEOPS complex

MIM:619603 ORPHA:2065

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

GORAB

golgin, RAB6 interacting

MIM:231070

NCBI chr 1:170,532,166...170,553,834
Ensembl chr 1:170,531,819...170,553,834

GP1BB

glycoprotein Ib platelet subunit beta

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

GPAA1

glycosylphosphatidylinositol anchor attachment 1

ORPHA:529665

NCBI chr 8:144,082,634...144,086,216
Ensembl chr 8:144,082,337...144,093,149

glypican 3

NCBI chr X:133,535,745...133,985,594
Ensembl chr X:133,535,745...133,987,100

GPC4

glypican 4

MIM:301026 MIM:312870 ORPHA:2662 ORPHA:373

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

GREB1L

GREB1 like retinoic acid receptor coactivator

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

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

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

GTF2E2

general transcription factor IIE subunit 2

NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236

GTF2H5

general transcription factor IIH subunit 5

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

H3.3 histone A

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

H4C11

H4 clustered histone 11

MIM:619759

NCBI chr 6:27,824,092...27,824,480
Ensembl chr 6:27,824,092...27,824,480

H4C3

H4 clustered histone 3

MIM:619758

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

H4C9

H4 clustered histone 9

MIM:619951

NCBI chr 6:27,139,282...27,139,678
Ensembl chr 6:27,139,282...27,140,640

HACE1

HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1

ORPHA:464282

NCBI chr 6:104,728,094...104,859,919
Ensembl chr 6:104,728,094...104,859,919

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

HDAC4

histone deacetylase 4

MIM:619797

NCBI chr 2:239,048,168...239,401,649
Ensembl chr 2:239,048,168...239,401,654

HDAC8

histone deacetylase 8

MIM:300882

NCBI chr X:72,329,516...72,572,843
Ensembl chr X:72,329,516...72,573,101

HEATR3

HEAT repeat containing 3

MIM:620072 ORPHA:124

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

HECTD4

HECT domain E3 ubiquitin protein ligase 4

MIM:620250

NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439

HELLS

helicase, lymphoid specific

MIM:616911 ORPHA:2268

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

HEPACAM

hepatic and glial cell adhesion molecule

ORPHA:210548

NCBI chr11:124,919,205...124,936,047
Ensembl chr11:124,919,205...124,936,412

HERC1

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

MIM:617011 ORPHA:457359

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

HEY2

hes related family bHLH transcription factor with YRPW motif 2

NCBI chr 6:125,749,632...125,761,269
Ensembl chr 6:125,747,664...125,761,269

HID1

HID1 domain containing

MIM:619983

NCBI chr17:74,950,742...74,972,759
Ensembl chr17:74,950,742...74,973,166

HIRA

histone cell cycle regulator

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

HIVEP zinc finger 2

NCBI chr 6:142,751,469...142,946,365
Ensembl chr 6:142,751,469...142,956,698

HMGA2

high mobility group AT-hook 2

ORPHA:94063

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

HNRNPC

heterogeneous nuclear ribonucleoprotein C

MIM:620688

NCBI chr14:21,209,147...21,269,442
Ensembl chr14:21,209,136...21,269,494

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

MIM:300986

NCBI chr X:101,408,222...101,414,133
Ensembl chr X:101,408,222...101,414,133

HNRNPU

heterogeneous nuclear ribonucleoprotein U

ORPHA:238769

NCBI chr 1:244,850,297...244,864,543
Ensembl chr 1:244,840,638...244,864,560

HPDL

4-hydroxyphenylpyruvate dioxygenase like

MIM:619026

NCBI chr 1:45,326,895...45,328,710
Ensembl chr 1:45,326,895...45,328,710

HRAS

HRas proto-oncogene, GTPase

MIM:137550 MIM:218040

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

HS2ST1

heparan sulfate 2-O-sulfotransferase 1

MIM:619194

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

HS6ST1

heparan sulfate 6-O-sulfotransferase 1

NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

MIM:261515

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

HSPG2

heparan sulfate proteoglycan 2

MIM:255800 ORPHA:800

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

MIM:309590

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

alpha-L-iduronidase

NCBI chr 4:986,997...1,008,351
Ensembl chr 4:986,997...1,004,564

IFT140

intraflagellar transport 140

MIM:266920

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

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

IFT43

intraflagellar transport 43

MIM:617866

NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585

IFT56

intraflagellar transport 56

MIM: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

IGHM

immunoglobulin heavy constant mu

ORPHA:33110

NCBI chr14:105,851,966...105,856,217
Ensembl chr14:105,851,705...105,856,218

IGLL1

immunoglobulin lambda like polypeptide 1

ORPHA:33110

NCBI chr22:23,573,125...23,580,290
Ensembl chr22:23,573,125...23,580,302

IL11RA

interleukin 11 receptor subunit alpha

MIM:614188

NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902

IL1RAPL1

interleukin 1 receptor accessory protein like 1

MIM:300143

NCBI chr X:28,587,446...29,956,718
Ensembl chr X:28,587,446...29,956,718

IL6ST

interleukin 6 cytokine family signal transducer

MIM:619750

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

INPPL1

inositol polyphosphate phosphatase like 1

MIM:258480

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

insulin receptor

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

INTS1

integrator complex subunit 1

MIM:618571

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

INTS11

integrator complex subunit 11

MIM:620428

NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687

INTS8

integrator complex subunit 8

MIM:618572

NCBI chr 8:94,823,287...94,881,746
Ensembl chr 8:94,813,311...94,881,746

INTU

inturned planar cell polarity protein

MIM:617925

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

IPO8

importin 8

MIM:619472 ORPHA:60030

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

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

ORPHA:819

NCBI chr X:53,225,813...53,321,350
Ensembl chr X:53,225,828...53,321,350

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

MIM:613385

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

ITGA3

integrin subunit alpha 3

MIM:614748

NCBI chr17:50,056,110...50,090,481
Ensembl chr17:50,055,968...50,090,481

ITGA8

integrin subunit alpha 8

MIM: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

MIM: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

MIM: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

KAT6B

lysine acetyltransferase 6B

ORPHA:85201

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

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

MIM:616784

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

KBTBD13

kelch repeat and BTB domain containing 13

ORPHA:171439

NCBI chr15:65,076,746...65,079,948
Ensembl chr15:65,076,746...65,079,948

KCNH1

potassium voltage-gated channel subfamily H member 1

MIM:611816 ORPHA:3473 ORPHA:420561

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

MIM: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

KCNMA1

potassium calcium-activated channel subfamily M alpha 1

MIM:618729

NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369

KCNN3

potassium calcium-activated channel subfamily N member 3

ORPHA:3473

NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281

KDM1A

lysine demethylase 1A

ORPHA:477993

NCBI chr 1:23,019,468...23,083,689
Ensembl chr 1:23,019,443...23,083,689

KDM5A

lysine demethylase 5A

MIM:620820

NCBI chr12:280,057...389,320
Ensembl chr12:280,057...389,320

KDM6A

lysine demethylase 6A

MIM:147920

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

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

KIAA0753

MIM:617127 ORPHA:2754

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

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

KIF21A

kinesin family member 21A

ORPHA:994

NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390

KIF7

kinesin family member 7

MIM:200990 MIM:607131 ORPHA:166024 ORPHA:2754 ORPHA:36

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

KIFBP

kinesin family binding protein

ORPHA:66629

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

KISS1

KiSS-1 metastasis suppressor

NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491

KISS1 receptor

NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005

KLF13

KLF transcription factor 13

MIM:612001

NCBI chr15:31,326,835...31,435,665
Ensembl chr15:31,326,835...31,435,665

KLHL41

kelch like family member 41

ORPHA:171433 ORPHA:171439

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

KMT2A

lysine methyltransferase 2A

MIM:605130 ORPHA:319182

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

KMT2D

lysine methyltransferase 2D

MIM:147920 MIM:620186

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

KNL1

kinetochore scaffold 1

MIM:604321

NCBI chr15:40,594,249...40,664,342
Ensembl chr15:40,594,020...40,664,342

KNSTRN

kinetochore localized astrin (SPAG5) binding protein

MIM:613328 ORPHA:221139

NCBI chr15:40,382,721...40,394,288
Ensembl chr15:40,382,721...40,394,288

KPTN

kaptin, actin binding protein

MIM:615637

NCBI chr19:47,475,150...47,485,839
Ensembl chr19:47,475,150...47,484,265

KRAS

KRAS proto-oncogene, GTPase

MIM:609942 ORPHA:1340 ORPHA:648

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

KREMEN1

kringle containing transmembrane protein 1

MIM:617392

NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333

LAGE3

L antigen family member 3

ORPHA:2065

NCBI chr X:154,477,775...154,479,281
Ensembl chr X:154,477,775...154,479,281

LBR

lamin B receptor

MIM:169400 MIM:215140

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

LEMD3

LEM domain containing 3

ORPHA:94063

NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

MIM:194190 ORPHA:280

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

DNA ligase 4

NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368

LMBR1

limb development membrane protein 1

ORPHA:2378

NCBI chr 7:156,669,012...156,893,183
Ensembl chr 7:156,668,946...156,893,216

lamin A/C

NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081

lamin B1

NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020

LOC126863207

BRD4-independent group 4 enhancer GRCh37_chrX:10416979-10418178

ClinVar Annotator: match by term: Hypertelorism

NCBI chr X:10,448,939...10,450,138

LOC130065793

ATAC-STARR-seq lymphoblastoid silent region 12876

ClinVar Annotator: match by term: Hypertelorism

PMID:24194475 PMID:35614220

NCBI chr20:36,605,773...36,606,082

lysyl oxidase

NCBI chr 5:122,063,195...122,078,259
Ensembl chr 5:122,063,195...122,078,413

LRP2

LDL receptor related protein 2

MIM:222448 ORPHA:2143

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

LRP4

LDL receptor related protein 4

MIM:212780 MIM:614305 ORPHA:3258

NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642

LRP5

LDL receptor related protein 5

ORPHA:178377

NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275

LRPPRC

leucine rich pentatricopeptide repeat containing

MIM: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

MIM:613506 ORPHA:33110

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

LTBP4

latent transforming growth factor beta binding protein 4

MIM:613177

NCBI chr19:40,593,166...40,629,820
Ensembl chr19:40,592,883...40,629,818

LYN

LYN proto-oncogene, Src family tyrosine kinase

MIM:620376

NCBI chr 8:55,879,835...56,014,169
Ensembl chr 8:55,879,835...56,014,169

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

MIM:605275 MIM:616564 ORPHA:648, RGD:151708718

DNA:missense mutation:cds:c.742G>A (p.G248R), c.360C>A (p.H120Q), c.2245T>C (p.Y749H) (human)

HPO
RGD

PMID:31825158

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

MACF1

microtubule actin crosslinking factor 1

MIM:618325

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

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,657,230...11,691,811

MAF

MAF bZIP transcription factor

MIM:601088 ORPHA:1272

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

MAGEL2

MAGE family member L2

ORPHA:994

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

MAN1B1

mannosidase alpha class 1B member 1

MIM:614202 ORPHA:397941

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

MAN2B1

mannosidase alpha class 2B member 1

ORPHA:309282

NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742

MAN2C1

mannosidase alpha class 2C member 1

MIM:619775

NCBI chr15:75,355,792...75,368,607
Ensembl chr15:75,355,207...75,368,612

MAP2K1

mitogen-activated protein kinase kinase 1

MIM:163950 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

MAP3K7

mitogen-activated protein kinase kinase kinase 7

MIM:157800 MIM:617137 ORPHA:1826, RGD:11552967

DNA:missense mutations, deletions:CDS:multiple

HPO
RGD

PMID:27426734

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

MAPK1

mitogen-activated protein kinase 1

MIM: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

MIM: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

MIM:616734

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

MARS1

methionyl-tRNA synthetase 1

MIM:620323

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

MARS2

methionyl-tRNA synthetase 2, mitochondrial

MIM: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

MIM:257920 ORPHA:293843

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

MAT2A

methionine adenosyltransferase 2A

NCBI chr 2:85,539,168...85,545,281
Ensembl chr 2:85,539,168...85,545,281

MBD5

methyl-CpG binding domain protein 5

MIM:156200

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

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

MED12

mediator complex subunit 12

MIM:300895 MIM:305450 ORPHA:93932

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

MED12L

mediator complex subunit 12L

MIM:618872

NCBI chr 3:151,085,664...151,436,653
Ensembl chr 3:151,085,286...151,437,072

MED13

mediator complex subunit 13

MIM:618009

NCBI chr17:61,942,605...62,065,278
Ensembl chr17:61,942,605...62,065,278

MED13L

mediator complex subunit 13L

MIM:616789 ORPHA:369891

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

MED25

mediator complex subunit 25

MIM:616449 ORPHA:464738

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

MED27

mediator complex subunit 27

MIM:619286

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

MEF2C

myocyte enhancer factor 2C

MIM: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

MIM:614976 ORPHA:65759

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

MFAP5

microfibril associated protein 5

NCBI chr12:8,645,943...8,662,826
Ensembl chr12:8,637,346...8,662,888

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

MICU1

mitochondrial calcium uptake 1

MIM:615673

NCBI chr10:72,367,340...72,626,079
Ensembl chr10:72,367,340...72,626,131

MID1

midline 1

ClinVar Annotator: match by term: Hypertelorism

MIM:300000 ORPHA:2745

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

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

MIM:249000 MIM:617121 ORPHA:110 ORPHA:564

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

MLLT1

MLLT1 super elongation complex subunit

ClinVar Annotator: match by term: Hypertelorism

NCBI chr19:6,210,381...6,279,975
Ensembl chr19:6,210,381...6,279,975

MMP2

matrix metallopeptidase 2

MIM:259600

NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691

MN1

MN1 proto-oncogene, transcriptional regulator

MIM:618774

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

MOCS1

molybdenum cofactor synthesis 1

MIM:252150

NCBI chr 6:39,904,170...39,934,462
Ensembl chr 6:39,899,578...39,934,551

MOCS2

molybdenum cofactor synthesis 2

MIM:252160

NCBI chr 5:53,095,679...53,109,757
Ensembl chr 5:53,095,679...53,110,063

MPLKIP

M-phase specific PLK1 interacting protein

NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622

MRAS

muscle RAS oncogene homolog

MIM:618499 ORPHA:648

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

MRPS14

mitochondrial ribosomal protein S14

MIM:618378

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

MT-ATP6

mitochondrially encoded ATP synthase membrane subunit 6

ClinVar Annotator: match by term: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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: Hypertelorism

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

MTOR

mechanistic target of rapamycin kinase

MIM:616638 ORPHA:457485

NCBI chr 1:11,106,535...11,262,551
Ensembl chr 1:11,106,535...11,262,556

MUSK

muscle associated receptor tyrosine kinase

MIM:208150 ORPHA:994

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

MYCN

MYCN proto-oncogene, bHLH transcription factor

MIM:620748

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

MYH10

myosin heavy chain 10

ClinVar Annotator: match by term: Hypertelorism

NCBI chr17:8,474,212...8,630,725
Ensembl chr17:8,474,207...8,631,376

MYH11

myosin heavy chain 11

NCBI chr16:15,703,135...15,857,028
Ensembl chr16:15,703,135...15,858,438

MYH3

myosin heavy chain 3

MIM:193700 ORPHA:2053 ORPHA:2990

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

MYLK

myosin light chain kinase

NCBI chr 3:123,610,049...123,884,332
Ensembl chr 3:123,610,049...123,884,332

MYOD1

myogenic differentiation 1

ORPHA:994

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

myopalladin

NCBI chr10:68,087,897...68,212,017
Ensembl chr10:68,087,897...68,212,017

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

MIM:300855

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

NAA80

N-alpha-acetyltransferase 80, NatH catalytic subunit

MIM:620830

NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416

NALCN

sodium leak channel, non-selective

ORPHA:2053 ORPHA:562528

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

NARS1

asparaginyl-tRNA synthetase 1

MIM:619092

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

NBAS

NBAS subunit of NRZ tethering complex

MIM:614800

NCBI chr 2:14,778,909...15,561,334
Ensembl chr 2:15,166,916...15,561,340

neurochondrin

NCBI chr 1:35,557,799...35,566,779
Ensembl chr 1:35,557,473...35,567,274

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

MIM:256030 ORPHA:171433 ORPHA:171439

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

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

MIM:617201

NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540

NEK1

NIMA related kinase 1

MIM:252100

NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632

NELFA

negative elongation factor complex member A

ORPHA:280

NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903

NF1

neurofibromin 1

MIM:162200 MIM:193520 MIM:601321 ORPHA:363700 ORPHA:638 ORPHA:97685

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

neurofascin

NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822

nuclear factor I X

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

NHLH2

nescient helix-loop-helix 2

NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917

NK2 homeobox 5

NCBI chr 5:173,232,109...173,235,206
Ensembl chr 5:173,232,109...173,235,311

NK2 homeobox 6

NCBI chr 8:23,701,740...23,706,756
Ensembl chr 8:23,701,740...23,706,756

NK3 homeobox 2

NCBI chr 4:13,540,830...13,547,744
Ensembl chr 4:13,540,830...13,544,508

NONO

non-POU domain containing octamer binding

ORPHA:466791

NCBI chr X:71,283,635...71,301,168
Ensembl chr X:71,254,814...71,301,522

notch receptor 2

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

NOTCH3

notch receptor 3

MIM:130720 ORPHA:2789

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

nephrocystin 1

NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066

NR4A2

nuclear receptor subfamily 4 group A member 2

ORPHA:1617

NCBI chr 2:156,324,437...156,332,721
Ensembl chr 2:156,324,437...156,342,348

NRAS

NRAS proto-oncogene, GTPase

MIM:137550 MIM:613224 ORPHA:648

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

NRCAM

neuronal cell adhesion molecule

MIM:619833

NCBI chr 7:108,147,649...108,456,720
Ensembl chr 7:108,147,623...108,456,717

NSD1

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Increased distance between eyes
ClinVar Annotator: match by term: Hypertelorism

PMID:12464997 PMID:12807965 PMID:14571271 PMID:15942875 PMID:16247291 More...

MIM:117550 ORPHA:3447

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

MIM:194190 MIM:619695 ORPHA:280

NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207

NSMCE3

NSE3 homolog, SMC5-SMC6 complex component

MIM:617241

NCBI chr15:29,264,989...29,269,822
Ensembl chr15:29,264,989...29,269,822

NSMF

NMDA receptor synaptonuclear signaling and neuronal migration factor

NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334

NSRP1

nuclear speckle splicing regulatory protein 1

MIM:620001

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

NSUN2

NOP2/Sun RNA methyltransferase 2

MIM:611091 ORPHA:235

NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291

nucleoporin 107

NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809

nucleoporin 133

NCBI chr 1:229,440,259...229,508,341
Ensembl chr 1:229,440,259...229,508,341

nucleoporin 88

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

NXN

nucleoredoxin

MIM:618529 ORPHA:1507

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

ODC1

ornithine decarboxylase 1

MIM:619075 ORPHA:544488

NCBI chr 2:10,439,968...10,448,327
Ensembl chr 2:10,439,968...10,448,327

OFD1

OFD1 centriole and centriolar satellite protein

MIM:311200 ORPHA:2750 ORPHA:2754

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

MIM:300997

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

OSGEP

O-sialoglycoprotein endopeptidase

MIM:617729 ORPHA:2065

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

PACS1

phosphofurin acidic cluster sorting protein 1

MIM:615009 ORPHA:329224

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

PACS2

phosphofurin acidic cluster sorting protein 2

MIM:618067

NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147

PAFAH1B1

platelet activating factor acetylhydrolase 1b regulatory subunit 1

ORPHA:217385

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

PAICS

phosphoribosylaminoimidazole carboxylase and phosphoribosylaminoimidazolesuccinocarboxamide synthase

MIM:619859

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

PALB2

partner and localizer of BRCA2

MIM:610832 ORPHA:84

NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321

PARS2

prolyl-tRNA synthetase 2, mitochondrial

MIM:618437

NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523

PAX3

paired box 3

MIM:122880 MIM:193500 ORPHA:1529

NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998

PAX6

paired box 6

ClinVar Annotator: match by term: Hypertelorism

PMID:11309364 PMID:11431688 PMID:12552561 PMID:12731001 PMID:16098226 More...

NCBI chr11:31,789,026...31,817,961
Ensembl chr11:31,784,779...31,817,961

PDE4D

phosphodiesterase 4D

ORPHA:439822 ORPHA:950

NCBI chr 5:58,969,038...60,522,128
Ensembl chr 5:58,969,038...60,522,120

phosphodiesterase 6D

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

PDGFRB

platelet derived growth factor receptor beta

MIM:601812

NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872

PDHX

pyruvate dehydrogenase complex component X

MIM:245349

NCBI chr11:34,915,920...34,996,128
Ensembl chr11:34,915,829...35,020,591

PDZD8

PDZ domain containing 8

MIM:620021

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

peptidase D

NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823

PEX1

peroxisomal biogenesis factor 1

MIM:214100

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

PEX2

peroxisomal biogenesis factor 2

MIM:614866

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

PEX3

peroxisomal biogenesis factor 3

MIM:614882

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

PEX5

peroxisomal biogenesis factor 5

MIM:214110

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

PEX6

peroxisomal biogenesis factor 6

MIM:614862 MIM:614863

NCBI chr 6:42,963,865...42,979,181
Ensembl chr 6:42,963,865...42,979,181

PGAP2

post-GPI attachment to proteins 2

MIM:614207 ORPHA:247262

NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371

PGAP3

post-GPI attachment to proteins phospholipase 3

MIM:615716 ORPHA:247262

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

PHACTR1

phosphatase and actin regulator 1

MIM:618298

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

PHGDH

phosphoglycerate dehydrogenase

MIM:256520

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

PHIP

pleckstrin homology domain interacting protein

MIM:617991 ORPHA:589905

NCBI chr 6:78,934,419...79,078,254
Ensembl chr 6:78,934,419...79,078,287

PIEZO2

piezo type mechanosensitive ion channel component 2

MIM:248700

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

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

MIM:300868

NCBI chr X:15,319,451...15,335,554
Ensembl chr X:15,319,452...15,335,554

PIGB

phosphatidylinositol glycan anchor biosynthesis class B

MIM:618580

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

PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ORPHA:280 ORPHA:488635

NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

ClinVar Annotator: match by term: Hypertelorism

MIM:280000 ORPHA:247262 ORPHA:3474

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

MIM:614080 ORPHA:2059 ORPHA:280633

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

PIGO

phosphatidylinositol glycan anchor biosynthesis class O

MIM:614749 ORPHA:247262

NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,085,493...35,096,619

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

MIM:239300 ORPHA:247262, RGD:243048420

DNA:missense mutations:CDS:multiple

HPO
RGD

PMID:20802478

NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659

PIGW

phosphatidylinositol glycan anchor biosynthesis class W

ORPHA:247262

NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310

PIGY

phosphatidylinositol glycan anchor biosynthesis class Y

ORPHA:247262

NCBI chr 4:88,520,998...88,523,776
Ensembl chr 4:88,520,998...88,523,776

PIK3CA

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha

PMID:25741868 PMID:27631024 PMID:28492532 PMID:31568861

ClinVar Annotator: match by term: Hypertelorism

HPO
ClinVar

MIM:602501

NCBI chr 3:179,148,126...179,240,093
Ensembl chr 3:179,148,114...179,240,093

PIK3CD

phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta

MIM:613328 ORPHA:221139

NCBI chr 1:9,627,258...9,729,114
Ensembl chr 1:9,629,889...9,729,114

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

ORPHA:3163 ORPHA:33110

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

PIK3R2

phosphoinositide-3-kinase regulatory subunit 2

ORPHA:83473

NCBI chr19:18,153,163...18,170,532
Ensembl chr19:18,153,163...18,170,540

PITX1

paired like homeodomain 1

MIM:119800

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

PITX2

paired like homeodomain 2

ORPHA:782

NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123

PLCB3

phospholipase C beta 3

MIM:618961

NCBI chr11:64,251,530...64,269,452
Ensembl chr11:64,251,530...64,269,150

PLP1

proteolipid protein 1

ORPHA:280229

NCBI chr X:103,776,506...103,792,619
Ensembl chr X:103,773,718...103,792,619

phosphomannomutase 2

NCBI chr16:8,797,839...8,849,325
Ensembl chr16:8,788,823...8,862,534

POC1A

POC1 centriolar protein A

MIM: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

ClinVar Annotator: match by term: Hypertelorism

MIM:616364 ORPHA:468678

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

POLR1A

RNA polymerase I subunit A

MIM:616462 ORPHA:1200

NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155

POLR1B

RNA polymerase I subunit B

ORPHA:861

NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818

POLR1C

RNA polymerase I and III subunit C

ORPHA:861

NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419

POLR1D

RNA polymerase I and III subunit D

ORPHA:861

NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237

POLR2A

RNA polymerase II subunit A

MIM:618603

NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616

POLR3A

RNA polymerase III subunit A

MIM:264090 ORPHA:3455

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

POR

cytochrome p450 oxidoreductase

MIM:201750

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

PPP1CB

protein phosphatase 1 catalytic subunit beta

MIM:617506 ORPHA:2701

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

MIM:618820

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

PPP1R21

protein phosphatase 1 regulatory subunit 21

MIM:619383

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

PPP2CA

protein phosphatase 2 catalytic subunit alpha

MIM:618354

NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,193,978...134,226,073

PPP2R1A

protein phosphatase 2 scaffold subunit Aalpha

MIM:616362 ORPHA:457284

NCBI chr19:52,190,052...52,229,518
Ensembl chr19:52,170,936...52,229,518

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

MIM:616355

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

PPP3CA

protein phosphatase 3 catalytic subunit alpha

MIM:617711

NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278

PR/SET domain 13

NCBI chr 6:99,606,833...99,615,562
Ensembl chr 6:99,606,774...99,615,578

PRKACB

protein kinase cAMP-activated catalytic subunit beta

MIM:619143

NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498

PRKAR1A

protein kinase cAMP-dependent type I regulatory subunit alpha

MIM:101800 ORPHA:950

NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319

PRKG1

protein kinase cGMP-dependent 1

NCBI chr10:50,990,888...52,298,350
Ensembl chr10:50,990,888...52,298,423

PRMT7

protein arginine methyltransferase 7

MIM:617157 ORPHA:464288

NCBI chr16:68,311,019...68,360,870
Ensembl chr16:68,310,951...68,360,852

prokineticin 2

NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206

PROKR2

prokineticin receptor 2

NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954

PRORP

protein only RNase P catalytic subunit

MIM:619737

NCBI chr14:35,121,839...35,277,622
Ensembl chr14:35,121,846...35,277,622

PRPS1

phosphoribosyl pyrophosphate synthetase 1

ORPHA:423479

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

PSAT1

phosphoserine aminotransferase 1

MIM:616038 ORPHA:284417

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

MIM:617516 ORPHA:529962

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

PTCH1

patched 1

MIM:109400 MIM:610828 ORPHA:377

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

patched 2

NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,154...44,843,253

PTDSS1

phosphatidylserine synthase 1

MIM:151050 ORPHA:2658

NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995

PTEN

phosphatase and tensin homolog

ORPHA:210548 ORPHA:79076

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

PTH1R

parathyroid hormone 1 receptor

MIM:156400 MIM:600002

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

MIM:151100 MIM:156250 MIM:163950 ORPHA:500 ORPHA:648, RGD:1601571

DNA:missense mutations:exons:p.Y279C, p.T468M

HPO
RGD

PMID:12058348

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

PTRH2

peptidyl-tRNA hydrolase 2

MIM:616263 ORPHA:456312

NCBI chr17:59,697,308...59,707,430
Ensembl chr17:59,674,636...59,707,626

PUM1

pumilio RNA binding family member 1

MIM:620719

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

PUS1

pseudouridine synthase 1

MIM:600462

NCBI chr12:131,929,276...131,945,896
Ensembl chr12:131,929,200...131,945,896

PYCR1

pyrroline-5-carboxylate reductase 1

MIM:612940 MIM:614438

NCBI chr17:81,932,391...81,937,300
Ensembl chr17:81,932,384...81,942,412

PYCR2

pyrroline-5-carboxylate reductase 2

ORPHA:481152

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

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

ORPHA:65759

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

RAB34

RAB34, member RAS oncogene family

MIM:620718

NCBI chr17:28,714,281...28,718,428
Ensembl chr17:28,714,281...28,718,429

RAB5IF

RAB5 interacting factor

ClinVar Annotator: match by term: Hypertelorism

PMID:24194475 PMID:35614220

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

RAC3

Rac family small GTPase 3

MIM:618577

NCBI chr17:82,031,678...82,034,204
Ensembl chr17:82,031,678...82,034,204

RAD21

RAD21 cohesin complex component

MIM:614701

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

RAD51 recombinase

NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340

RAD51 paralog C

NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611

RAF1

Raf-1 proto-oncogene, serine/threonine kinase

MIM:611553 MIM:611554 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 ORPHA:819

NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453

RAP1B

RAP1B, member of RAS oncogene family

MIM:620654

NCBI chr12:68,610,899...68,671,901
Ensembl chr12:68,610,855...68,671,901

RAP1GDS1

Rap1 GTPase-GDP dissociation stimulator 1

MIM:620655

NCBI chr 4:98,261,384...98,443,858
Ensembl chr 4:98,261,384...98,443,858

RAPSN

receptor associated protein of the synapse

MIM:618388 ORPHA:994

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

RASA2

RAS p21 protein activator 2

ORPHA:648

NCBI chr 3:141,487,027...141,615,344
Ensembl chr 3:141,487,027...141,615,344

RB1

RB transcriptional corepressor 1

ORPHA:1587

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

RBL2

RB transcriptional corepressor like 2

MIM:619690

NCBI chr16:53,434,471...53,491,648
Ensembl chr16:53,433,977...53,491,648

RBM10

RNA binding motif protein 10

MIM:311900 ORPHA:2886

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

RECQL4

RecQ like helicase 4

MIM:218600 MIM:268400 ORPHA:1225

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

MIM:616975

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

RET

ret proto-oncogene

ClinVar Annotator: match by term: Hypertelorism

HPO
ClinVar

PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More...

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

RFWD3

ring finger and WD repeat domain 3

NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877

RIPK4

receptor interacting serine/threonine kinase 4

MIM:263650 ORPHA:1401

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

RIT1

Ras like without CAAX 1

MIM:615355 ORPHA:648, RGD:11086309

DNA:missense mutation:exon:multiple 9human)
ClinVar Annotator: match by term: Hypertelorism

HPO
ClinVar
RGD

PMID:24033266 PMID:25741868 PMID:26518681 PMID:27101134 PMID:28492532 More...

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

RLIM

ring finger protein, LIM domain interacting

MIM:300978

NCBI chr X:74,582,976...74,614,624
Ensembl chr X:74,582,976...74,614,624

RMRP

RNA component of mitochondrial RNA processing endoribonuclease

MIM:607095

NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017

RNF113A

ring finger protein 113A

NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733

RNF2

ring finger protein 2

MIM:619460

NCBI chr 1:185,045,558...185,102,603
Ensembl chr 1:185,045,497...185,102,603

RNU4-2

RNA, U4 small nuclear 2

MIM:620851

NCBI chr12:120,291,759...120,291,903
Ensembl chr12:120,291,763...120,291,903

RNU4ATAC

RNA, U4atac small nuclear

ORPHA:353298

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

ROR2

receptor tyrosine kinase like orphan receptor 2

MIM:268310 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

RPGRIP1 like

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

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

MIM: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

MIM:105650 ORPHA:124

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

RPS24

ribosomal protein S24

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

RPS26

ribosomal protein S26

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

RPS6KA3

ribosomal protein S6 kinase A3

ClinVar Annotator: match by term: Hypertelorism

MIM:303600 ORPHA:192 ORPHA:276630

NCBI chr X:20,149,911...20,267,097
Ensembl chr X:20,149,911...20,267,519

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

MIM:620609

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

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

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

MIM:616723 ORPHA:457395

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

RSRC1

arginine and serine rich coiled-coil 1

MIM:618402

NCBI chr 3:158,110,089...158,545,730
Ensembl chr 3:158,105,855...158,545,730

RUNX2

RUNX family transcription factor 2

MIM:119600 ORPHA:1452

NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349

RUSC2

RUN and SH3 domain containing 2

MIM:617773

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

RYR1

ryanodine receptor 1

MIM:619542 ORPHA:324581

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

SALL4

spalt like transcription factor 4

MIM:607323 ORPHA:959

NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521

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

SCN1A

sodium voltage-gated channel alpha subunit 1

ClinVar Annotator: match by term: Hypertelorism

MIM:619317

NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806

SCN1A-AS1

SCN1A and SCN9A antisense RNA 1

ClinVar Annotator: match by term: Hypertelorism

NCBI chr 2:165,957,418...166,036,400
Ensembl chr 2:165,957,188...166,390,771

SCNM1

sodium channel modifier 1

MIM:620107

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

SCYL2

SCY1 like pseudokinase 2

ORPHA:1143

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

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

SEC23A

SEC23 homolog A, COPII coat complex component

MIM:607812 ORPHA:50814

NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646

SEC24C

SEC24 homolog C, COPII coat complex component

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

SEC24D

SEC24 homolog D, COPII coat complex component

MIM:616294

NCBI chr 4:118,722,823...118,836,126
Ensembl chr 4:118,722,823...118,838,683

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

SET

SET nuclear proto-oncogene

MIM:618106

NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400

SETBP1

SET binding protein 1

MIM:269150 MIM:616078 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