High palate - Ontology Report - Rat Genome Database

ORPHA:2203

NCBI chr 7:122,073,549...122,144,249
Ensembl chr 7:122,064,583...122,144,308

ABCC6

ATP binding cassette subfamily C member 6

OMIM:177850 ORPHA:758

NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522

ABL1

ABL proto-oncogene 1, non-receptor tyrosine kinase

OMIM:617602

NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675

ACTA1

actin alpha 1, skeletal muscle

OMIM:161800 OMIM:620278 ORPHA:171436 ORPHA:171439 ORPHA:2020

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

actin beta

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

actinin alpha 2

NCBI chr 1:236,686,499...236,764,631
Ensembl chr 1:236,664,141...236,764,631

ADA2

adenosine deaminase 2

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

ADAM22

ADAM metallopeptidase domain 22

OMIM:617933

NCBI chr 7:87,934,251...88,202,889
Ensembl chr 7:87,934,143...88,202,889

ADAMTS15

ADAM metallopeptidase with thrombospondin type 1 motif 15

OMIM:620545

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

ADARB1

adenosine deaminase RNA specific B1

OMIM:618862

NCBI chr21:45,074,578...45,226,563
Ensembl chr21:45,073,853...45,226,560

ADAT3

adenosine deaminase tRNA specific 3

ORPHA:363528

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

AEBP1

AE binding protein 1

OMIM:618000 ORPHA:536532

NCBI chr 7:44,104,345...44,114,560
Ensembl chr 7:44,104,345...44,114,562

AFF4

ALF transcription elongation factor 4

ORPHA:444077

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

AFG2B

AFG2 AAA ATPase homolog B

OMIM:619616

NCBI chr15:45,402,336...45,421,415
Ensembl chr15:45,402,336...45,421,415

AGRN

agrin

OMIM:615120 ORPHA:98913 ORPHA:98914

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

AIFM1

apoptosis inducing factor mitochondria associated 1

OMIM:300232

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

adenylate kinase 9

NCBI chr 6:109,492,855...109,691,202
Ensembl chr 6:109,492,855...109,691,217

AKT1

AKT serine/threonine kinase 1

OMIM:615109 ORPHA:201

NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759

ALDH6A1

aldehyde dehydrogenase 6 family member A1

OMIM:614105

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

ALG14

ALG14 UDP-N-acetylglucosaminyltransferase subunit

ORPHA:353327

NCBI chr 1:94,974,405...95,072,951
Ensembl chr 1:94,974,405...95,072,951

ALG2

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

OMIM:607906 OMIM:616228 ORPHA:353327

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

ALG3

ALG3 alpha-1,3- mannosyltransferase

OMIM:601110 ORPHA:79321

NCBI chr 3:184,242,301...184,249,525
Ensembl chr 3:184,242,301...184,249,548

AMER1

APC membrane recruitment protein 1

OMIM:300373

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

ANAPC7

anaphase promoting complex subunit 7

OMIM: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

ANKRD11

ankyrin repeat domain containing 11

ORPHA:261250

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

anoctamin 1

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

anosmin 1

NCBI chr X:8,528,874...8,732,137
Ensembl chr X:8,528,874...8,732,137

AP1G1

adaptor related protein complex 1 subunit gamma 1

OMIM:619548

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

AP1S2

adaptor related protein complex 1 subunit sigma 2

ORPHA:85335

NCBI chr X:15,825,806...15,854,813
Ensembl chr X:15,825,806...15,854,931

AP4B1

adaptor related protein complex 4 subunit beta 1

OMIM:614066 ORPHA:280763

NCBI chr 1:113,894,194...113,905,028
Ensembl chr 1:113,894,194...113,905,712

AP4E1

adaptor related protein complex 4 subunit epsilon 1

ORPHA:280763

NCBI chr15:50,907,492...51,005,895
Ensembl chr15:50,908,672...51,005,895

AP4M1

adaptor related protein complex 4 subunit mu 1

OMIM:612936 ORPHA:280763

NCBI chr 7:100,100,794...100,109,039
Ensembl chr 7:100,100,858...100,110,345

AP4S1

adaptor related protein complex 4 subunit sigma 1

OMIM:614067 ORPHA:280763

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

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

archain 1

NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033

ARHGEF2

Rho/Rac guanine nucleotide exchange factor 2

OMIM:617523

NCBI chr 1:155,946,854...155,979,617
Ensembl chr 1:155,946,851...156,007,070

ARID1A

AT-rich interaction domain 1A

OMIM:614607

NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104

ARID1B

AT-rich interaction domain 1B

OMIM:135900 ORPHA:251056

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

ARL6

ADP ribosylation factor like GTPase 6

OMIM:209900 ORPHA:110

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

ARX

aristaless related homeobox

OMIM:300004 OMIM:300215

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

ASH1L

ASH1 like histone lysine methyltransferase

OMIM:617796

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

ASPH

aspartate beta-hydroxylase

OMIM:601552

NCBI chr 8:61,500,556...61,714,592
Ensembl chr 8:61,500,556...61,714,640

ASXL3

ASXL transcriptional regulator 3

OMIM:615485

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

ATAD1

ATPase family AAA domain containing 1

OMIM:618011

NCBI chr10:87,751,512...87,841,361
Ensembl chr10:87,751,512...87,841,361

autophagy related 7

NCBI chr 3:11,272,397...11,576,353
Ensembl chr 3:11,272,309...11,557,665

ATP6V0A2

ATPase H+ transporting V0 subunit a2

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

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

ATP6V1A

ATPase H+ transporting V1 subunit A

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...20,226,819

ATP6V1E1

ATPase H+ transporting V1 subunit E1

OMIM:617402 ORPHA:357074

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

ATP7A

ATPase copper transporting alpha

OMIM:304150

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

ATP9A

ATPase phospholipid transporting 9A (putative)

OMIM:620242

NCBI chr20:51,596,514...51,768,390
Ensembl chr20:51,596,514...51,768,390

ATR

ATR serine/threonine kinase

OMIM:210600

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

ATRX

ATRX chromatin remodeler

OMIM:309580

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

B3GALT6

beta-1,3-galactosyltransferase 6

OMIM:271640 ORPHA:536467

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

BAP1

BRCA1 associated protein 1

OMIM:619762

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

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

OMIM:209900 ORPHA:110

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BBS10

Bardet-Biedl syndrome 10

NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415

BBS12

Bardet-Biedl syndrome 12

NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942

BBS2

Bardet-Biedl syndrome 2

NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667

BBS4

Bardet-Biedl syndrome 4

NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,179...72,738,475

BBS5

Bardet-Biedl syndrome 5

NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655

BBS7

Bardet-Biedl syndrome 7

NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487

BBS9

Bardet-Biedl syndrome 9

NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180

BCL6 corepressor

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

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

OMIM:619325

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

BIN1

bridging integrator 1

OMIM:255200 ORPHA:169186

NCBI chr 2:127,048,023...127,107,154
Ensembl chr 2:127,048,027...127,107,288

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

OMIM:617822

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

BMP2

bone morphogenetic protein 2

OMIM:617877

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

BMP4

bone morphogenetic protein 4

OMIM:607932 ORPHA:139471

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

BRAF

B-Raf proto-oncogene, serine/threonine kinase

OMIM:115150 OMIM:163950 ORPHA:1340

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

BRAT1

BRCA1 associated ATM activator 1

OMIM:618056

NCBI chr 7:2,537,810...2,555,524
Ensembl chr 7:2,537,810...2,555,694

BRCA1

BRCA1 DNA repair associated

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

BRCA2

BRCA2 DNA repair associated

NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268

BRD4

bromodomain containing 4

ORPHA:199

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

BRIP1

BRCA1 interacting helicase 1

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

carbonic anhydrase 2

NCBI chr 8:85,464,007...85,481,493
Ensembl chr 8:85,463,968...85,481,493

CACNA1S

calcium voltage-gated channel subunit alpha1 S

OMIM:620246

NCBI chr 1:201,039,512...201,112,426
Ensembl chr 1:201,039,512...201,112,451

CACNA2D1

calcium voltage-gated channel auxiliary subunit alpha2delta 1

OMIM:620149

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

CAMSAP1

calmodulin regulated spectrin associated protein 1

OMIM:620316

NCBI chr 9:135,808,487...135,907,546
Ensembl chr 9:135,808,487...135,907,546

CAMTA1

calmodulin binding transcription activator 1

OMIM:614756

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

CASK

calcium/calmodulin dependent serine protein kinase

OMIM:300749

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

CBS

cystathionine beta-synthase

OMIM:236200 ORPHA:394

NCBI chr21:43,053,191...43,076,873
Ensembl chr21:43,053,191...43,076,943

CCDC22

coiled-coil domain containing 22

OMIM:300963

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

CCDC28B

coiled-coil domain containing 28B

NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453

CCDC47

coiled-coil domain containing 47

OMIM:618268

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

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

CD96

CD96 molecule

OMIM:211750 ORPHA:1308

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

CDC45

cell division cycle 45

OMIM:617063

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

CDH11

cadherin 11

OMIM:211380 OMIM:619736

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

CDK19

cyclin dependent kinase 19

OMIM:618916

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

CDON

cell adhesion associated, oncogene regulated

NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335

CEP152

centrosomal protein 152

OMIM:613823

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

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

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

CFL2

cofilin 2

OMIM:610687 ORPHA:171436

NCBI chr14:34,709,113...34,714,593
Ensembl chr14:34,709,113...34,714,823

CHAMP1

chromosome alignment maintaining phosphoprotein 1

OMIM:616579

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

CHAT

choline O-acetyltransferase

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

CHD3

chromodomain helicase DNA binding protein 3

OMIM:618205

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

choline kinase alpha

NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

OMIM:601462 OMIM:608930 ORPHA:98913

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

CHRNB1

cholinergic receptor nicotinic beta 1 subunit

OMIM:616313 ORPHA:98913

NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710

CHRND

cholinergic receptor nicotinic delta subunit

OMIM:616322 OMIM:616323 ORPHA:98913

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

CHRNE

cholinergic receptor nicotinic epsilon subunit

OMIM:608931 ORPHA:98913

NCBI chr17:4,897,771...4,908,677
Ensembl chr17:4,897,771...4,934,438

CHRNG

cholinergic receptor nicotinic gamma subunit

OMIM:265000 ORPHA:2990

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

CHST14

carbohydrate sulfotransferase 14

OMIM:601776 ORPHA:2953, RGD:11061906

DNA:frameshift mutations, missense mutations:CDS:multiple

HPO
RGD

PMID:26373698

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

CHST3

carbohydrate sulfotransferase 3

OMIM:143095

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

CLCF1

cardiotrophin like cytokine factor 1

OMIM:610313 ORPHA:1545

NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177

CLCN3

chloride voltage-gated channel 3

OMIM:619512

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

CLP1

cleavage factor polyribonucleotide kinase subunit 1

OMIM:615803

NCBI chr11:57,657,762...57,661,865
Ensembl chr11:57,648,188...57,661,865

clathrin heavy chain

NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956

CNOT1

CCR4-NOT transcription complex subunit 1

OMIM:618500 ORPHA:556955

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

contactin 1

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

CNTNAP1

contactin associated protein 1

OMIM:618186

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

COG1

component of oligomeric golgi complex 1

OMIM:611209 ORPHA:263508

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

COG5

component of oligomeric golgi complex 5

ORPHA:263487

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

COL11A1

collagen type XI alpha 1 chain

ORPHA:560

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

COL12A1

collagen type XII alpha 1 chain

OMIM:616470

NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267

COL13A1

collagen type XIII alpha 1 chain

OMIM:616720 ORPHA:98913 ORPHA:98914

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

COL1A2

collagen type I alpha 2 chain

ORPHA:230851

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

COL2A1

collagen type II alpha 1 chain

ORPHA:93315

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

COL5A1

collagen type V alpha 1 chain

OMIM:619329

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

COL6A1

collagen type VI alpha 1 chain

OMIM:254090

NCBI chr21:45,981,770...46,005,048
Ensembl chr21:45,981,770...46,005,050

COLEC11

collectin subfamily member 11

OMIM:265050

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

COLQ

collagen like tail subunit of asymmetric acetylcholinesterase

ORPHA:98915

NCBI chr 3:15,450,133...15,521,706
Ensembl chr 3:15,450,133...15,521,751

COX14

cytochrome c oxidase assembly factor COX14

OMIM:619053

NCBI chr12:50,112,236...50,120,453
Ensembl chr12:50,112,082...50,120,457

COX6A2

cytochrome c oxidase subunit 6A2

OMIM:619062

NCBI chr16:31,427,731...31,428,360
Ensembl chr16:31,427,731...31,428,360

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

OMIM:277170 ORPHA:2754

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

CPSF3

cleavage and polyadenylation specific factor 3

OMIM:619876

NCBI chr 2:9,423,654...9,473,101
Ensembl chr 2:9,423,651...9,473,101

CPT2

carnitine palmitoyltransferase 2

OMIM:608836

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

CREBBP

CREB binding protein

ClinVar Annotator: match by term: High palate

PMID:25741868 PMID:28492532 PMID:29460469 PMID:30755392

OMIM:180849 OMIM:618332 ORPHA:353277

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

CRIPTO

cripto, EGF-CFC family member

NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457

CRLF1

cytokine receptor like factor 1

OMIM:272430 ORPHA:1545

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

CSNK2A1

casein kinase 2 alpha 1

OMIM:617062

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

CTBP1

C-terminal binding protein 1

OMIM:617915

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

catenin beta 1

NCBI chr 3:41,199,505...41,240,443
Ensembl chr 3:41,194,741...41,260,096

catenin delta 2

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

cathepsin K

NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577

CTU2

cytosolic thiouridylase subunit 2

OMIM:618142

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

cullin 4B

NCBI chr X:120,523,858...120,575,532
Ensembl chr X:120,505,920...120,604,074

DBH

dopamine beta-hydroxylase

OMIM:223360

NCBI chr 9:133,636,363...133,659,329
Ensembl chr 9:133,636,363...133,659,329

DCHS1

dachsous cadherin-related 1

OMIM:601390

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

DDHD2

DDHD domain containing 2

OMIM:615033 ORPHA:320380

NCBI chr 8:38,231,585...38,273,647
Ensembl chr 8:38,225,218...38,275,558

DDR2

discoidin domain receptor tyrosine kinase 2

OMIM:271665 OMIM:618175

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

DDX11

DEAD/H-box helicase 11

OMIM:613398

NCBI chr12:31,073,860...31,104,799
Ensembl chr12:31,073,860...31,104,799

DDX3X

DEAD-box helicase 3 X-linked

ORPHA:3338

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

DEAD-box helicase 59

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

DEAD-box helicase 6

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

DEAF1

DEAF1 transcription factor

OMIM:615828

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

DHPS

deoxyhypusine synthase

OMIM:618480

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

DExH-box helicase 30

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

DISP1

dispatched RND transporter family member 1

NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995

DLG3

discs large MAGUK scaffold protein 3

OMIM:300850

NCBI chr X:70,444,835...70,505,490
Ensembl chr X:70,444,835...70,505,490

DLK1

delta like non-canonical Notch ligand 1

ORPHA:254531 ORPHA:96184

NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224

DLL1

delta like canonical Notch ligand 1

NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565

Dmx like 2

NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833

DOCK3

dedicator of cytokinesis 3

OMIM:618292

NCBI chr 3:50,674,927...51,384,198
Ensembl chr 3:50,674,927...51,384,198

docking protein 7

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

DPAGT1

dolichyl-phosphate N-acetylglucosaminephosphotransferase 1

ORPHA:353327

NCBI chr11:119,093,874...119,101,853
Ensembl chr11:119,096,025...119,108,331

DPH5

diphthamide biosynthesis 5

OMIM:620070

NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088

DPM2

dolichyl-phosphate mannosyltransferase subunit 2, regulatory

OMIM:615042 ORPHA:329178

NCBI chr 9:127,935,099...127,937,854
Ensembl chr 9:127,935,099...127,937,854

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

OMIM:619435

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

DSE

dermatan sulfate epimerase

OMIM:615539 ORPHA:2953

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

dystonin

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

DVL1

dishevelled segment polarity protein 1

OMIM:180700

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

DYNC1H1

dynein cytoplasmic 1 heavy chain 1

ClinVar Annotator: match by term: High palate

NCBI chr14:101,964,573...102,056,443
Ensembl chr14:101,964,573...102,056,443

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

ClinVar Annotator: match by term: High palate

PMID:22492562 PMID:25058219 PMID:25741868 PMID:26893310 PMID:28492532

NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731

EBP

EBP cholestenol delta-isomerase

OMIM:300960 ORPHA:35173 ORPHA:401973

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

ECM1

extracellular matrix protein 1

ORPHA:530

NCBI chr 1:150,508,109...150,513,789
Ensembl chr 1:150,508,062...150,513,789

EDEM3

ER degradation enhancing alpha-mannosidase like protein 3

OMIM:619493

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

EEF1A2

eukaryotic translation elongation factor 1 alpha 2

OMIM:616393

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

EFEMP2

EGF containing fibulin extracellular matrix protein 2

OMIM:614437

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

EFL1

elongation factor like GTPase 1

OMIM:617941

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

ephrin B1

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

EIF2AK3

eukaryotic translation initiation factor 2 alpha kinase 3

OMIM:226980

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

EIF4A3

eukaryotic translation initiation factor 4A3

OMIM:268305

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

ENPP1

ectonucleotide pyrophosphatase/phosphodiesterase 1

ORPHA:758

NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155

EP300

E1A binding protein p300

OMIM:180849 OMIM:613684 ORPHA:353284

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

EPG5

ectopic P-granules 5 autophagy tethering factor

OMIM:242840 ORPHA:1493

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

ERCC4

ERCC excision repair 4, endonuclease catalytic subunit

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

ERI1

exoribonuclease 1

OMIM:620662 OMIM:620663

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

ERLIN2

ER lipid raft associated 2

OMIM:611225 ORPHA:209951 ORPHA:280384

NCBI chr 8:37,736,634...37,758,422
Ensembl chr 8:37,736,601...37,758,422

ESAM

endothelial cell adhesion molecule

OMIM:620371

NCBI chr11:124,753,126...124,762,290
Ensembl chr11:124,752,583...124,762,290

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

OMIM:268300 ORPHA:3103

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

EXOC7

exocyst complex component 7

OMIM:619072

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

exosome component 9

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

EYA1

EYA transcriptional coactivator and phosphatase 1

OMIM:113650 OMIM:166780 ORPHA:2792

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

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

OMIM:259775, RGD:11560491

DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human)

HPO
RGD

PMID:25928877

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

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

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

FARSB

phenylalanyl-tRNA synthetase subunit beta

OMIM:613658

NCBI chr 2:222,566,899...222,656,092
Ensembl chr 2:222,566,899...222,656,092

FAT4

FAT atypical cadherin 4

OMIM:615546

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

FBN1

fibrillin 1

ClinVar Annotator: match by term: Increased palatal height
ClinVar Annotator: match by term: High palate

OMIM:129600 OMIM:154700 OMIM:608328 OMIM:616914

PMID:8040326 PMID:8541880 PMID:8791520 PMID:9399842 PMID:9401003 More...

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

FBN2

fibrillin 2

OMIM:121050 ORPHA:115

NCBI chr 5:128,257,909...128,538,245
Ensembl chr 5:128,257,909...128,659,185

FBXL3

F-box and leucine rich repeat protein 3

OMIM:606220

NCBI chr13:77,005,260...77,027,159
Ensembl chr13:76,992,598...77,027,195

F-box protein 28

NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047

FGF8

fibroblast growth factor 8

OMIM:612702 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

FGFR1

fibroblast growth factor receptor 1

OMIM:101600 OMIM:166250 ORPHA:220386 ORPHA:93258 ORPHA:93924

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: High palate

OMIM:101600 OMIM:123500 OMIM:123790 ORPHA:168624 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

OMIM:602849 OMIM:610474

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

fumarate hydratase

OMIM:606812

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

FIG4

FIG4 phosphoinositide 5-phosphatase

OMIM:216340

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

folliculin

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

FLNA

filamin A

OMIM:305620, RGD:11565126

DNA:deletion:cds:c.4904_4912del (human)

HPO
RGD

PMID:15654694

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

filamin B

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

fibronectin 1

NCBI chr 2:215,360,865...215,436,068
Ensembl chr 2:215,360,440...215,436,073

FOXH1

forkhead box H1

NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849

forkhead box L2

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

FRA10AC1

FRA10A associated CGG repeat 1

OMIM:620113

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

FRAS1

Fraser extracellular matrix complex subunit 1

ORPHA:2052

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

FREM2

FRAS1 related extracellular matrix 2

ORPHA:2052

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

FRMPD4

FERM and PDZ domain containing 4

OMIM:300983

NCBI chr X:11,822,439...12,724,523
Ensembl chr X:11,822,423...12,724,523

fucosyltransferase 8

NCBI chr14:65,356,842...65,744,121
Ensembl chr14:65,410,592...65,744,121

G6PC3

glucose-6-phosphatase catalytic subunit 3

OMIM:612541

NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151

GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

OMIM:301091

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

GAS1

growth arrest specific 1

NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506

GATA1

GATA binding protein 1

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

GATA4

GATA binding protein 4

ORPHA:251071

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

GATAD2B

GATA zinc finger domain containing 2B

ORPHA:363686

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

GBA1

glucosylceramidase beta 1

ORPHA:85212

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

GEMIN4

gem nuclear organelle associated protein 4

OMIM:617913

NCBI chr17:744,421...754,410
Ensembl chr17:744,421...753,999

GFPT1

glutamine--fructose-6-phosphate transaminase 1

OMIM:608931 ORPHA:353327

NCBI chr 2:69,319,780...69,387,227
Ensembl chr 2:69,319,780...69,387,250

GIPC1

GIPC PDZ domain containing family member 1

NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149

GJA1

gap junction protein alpha 1

OMIM:164200

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

GJA5

gap junction protein alpha 5

OMIM:612474

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

GJA8

gap junction protein alpha 8

OMIM:612474

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

GLE1

GLE1 RNA export mediator

OMIM:611890

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

GLI2

GLI family zinc finger 2

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

GMPPB

GDP-mannose pyrophosphorylase B

ORPHA:353327

NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973

GNB1

G protein subunit beta 1

OMIM:616973 ORPHA:488613

NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292

GNB2

G protein subunit beta 2

OMIM:619503

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

GNE

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

OMIM:269921

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

GNPAT

glyceronephosphate O-acyltransferase

OMIM:222765

NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973

GPT2

glutamic--pyruvic transaminase 2

OMIM:616281

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

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

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

goosecoid homeobox

NCBI chr14:94,768,223...94,770,113
Ensembl chr14:94,768,223...94,770,113

H19

H19 imprinted maternally expressed transcript

ORPHA:231140

NCBI chr11:1,995,176...2,001,466
Ensembl chr11:1,995,166...2,004,552

HACD1

3-hydroxyacyl-CoA dehydratase 1

ORPHA:2020

NCBI chr10:17,589,032...17,617,374
Ensembl chr10:17,589,032...17,617,374

HBA1

hemoglobin subunit alpha 1

ORPHA:98791

NCBI chr16:176,680...177,522
Ensembl chr16:176,680...177,522

HBA2

hemoglobin subunit alpha 2

ORPHA:98791

NCBI chr16:172,876...173,710
Ensembl chr16:172,876...173,710

HDAC8

histone deacetylase 8

OMIM:300882 ORPHA:199

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

HEATR3

HEAT repeat containing 3

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

HERC1

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

OMIM:617011 ORPHA:457359

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

HIVEP zinc finger 2

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

HNRNPH1

heterogeneous nuclear ribonucleoprotein H1

OMIM:620083

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

HNRNPH2

heterogeneous nuclear ribonucleoprotein H2

OMIM:300986

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

HNRNPK

heterogeneous nuclear ribonucleoprotein K

OMIM:616580

NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631

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

homeobox B1

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

HPDL

4-hydroxyphenylpyruvate dioxygenase like

OMIM:619026

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

HPGD

15-hydroxyprostaglandin dehydrogenase

OMIM:259100

NCBI chr 4:174,490,175...174,522,893
Ensembl chr 4:174,490,175...174,523,154

HRAS

HRas proto-oncogene, GTPase

OMIM:218040

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

HSD17B4

hydroxysteroid 17-beta dehydrogenase 4

OMIM:233400 OMIM:261515

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

HSPA9

heat shock protein family A (Hsp70) member 9

OMIM:616854

NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675

HSPG2

heparan sulfate proteoglycan 2

OMIM: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

OMIM:309590

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

HYMAI

hydatidiform mole associated and imprinted

ORPHA:96191

NCBI chr 6:144,004,916...144,008,259
Ensembl chr 6:144,004,916...144,008,262

HYOU1

hypoxia up-regulated 1

OMIM:233600

NCBI chr11:119,044,188...119,057,205
Ensembl chr11:119,044,188...119,057,227

IBA57

iron-sulfur cluster assembly factor IBA57

OMIM:615330

NCBI chr 1:228,165,804...228,182,257
Ensembl chr 1:228,165,804...228,182,257

IER3IP1

immediate early response 3 interacting protein 1

OMIM:614231

NCBI chr18:47,152,834...47,176,364
Ensembl chr18:47,152,834...47,176,364

IFT122

intraflagellar transport 122

OMIM:218330

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

IFT140

intraflagellar transport 140

OMIM:266920

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

IFT172

intraflagellar transport 172

NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805

IFT27

intraflagellar transport 27

NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256

IFT74

intraflagellar transport 74

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

IGBP1

immunoglobulin binding protein 1

OMIM:300472 ORPHA:52055

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

IGF1R

insulin like growth factor 1 receptor

OMIM:270450

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

IGF2

insulin like growth factor 2

ORPHA:231140

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

IGHM

immunoglobulin heavy constant mu

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

IGLL1

immunoglobulin lambda like polypeptide 1

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

IL11RA

interleukin 11 receptor subunit alpha

OMIM:614188

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

IL6ST

interleukin 6 cytokine family signal transducer

OMIM:619750 OMIM:619752

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

INSR

insulin receptor

OMIM:262190 ORPHA:769

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

IPO8

importin 8

OMIM:619472 ORPHA:60030

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

iroquois homeobox 5

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

ITGA7

integrin subunit alpha 7

ORPHA:2020

NCBI chr12:55,684,568...55,716,400
Ensembl chr12:55,684,568...55,716,404

KANSL1

KAT8 regulatory NSL complex subunit 1

OMIM:610443

NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389

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

OMIM:135500 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

OMIM:170390 ORPHA:37553

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

KCNJ5

potassium inwardly rectifying channel subfamily J member 5

ORPHA:37553

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

KCNJ6

potassium inwardly rectifying channel subfamily J member 6

OMIM:614098 ORPHA:435628

NCBI chr21:37,607,373...37,916,457
Ensembl chr21:37,607,373...38,121,345

KCNK9

potassium two pore domain channel subfamily K member 9

OMIM:612292

NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109

KCNMA1

potassium calcium-activated channel subfamily M alpha 1

ORPHA:3473

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

OMIM:618658 ORPHA:3473

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

KCNQ1

potassium voltage-gated channel subfamily Q member 1

ClinVar Annotator: match by term: High palate

PMID:1984130 PMID:2654361 PMID:15781747 PMID:15840476 PMID:19716085 More...

NCBI chr11:2,445,008...2,849,105
Ensembl chr11:2,444,654...2,849,105

KDM5C

lysine demethylase 5C

OMIM:300534 ORPHA:85279

NCBI chr X:53,176,277...53,225,207
Ensembl chr X:53,176,283...53,225,422

KDM6A

lysine demethylase 6A

OMIM:147920 OMIM:300867 ORPHA:2322

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

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

KIF26A

kinesin family member 26A

OMIM:620156

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

KIF7

kinesin family member 7

OMIM:200990 ORPHA:2754

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

KLHL41

kelch like family member 41

OMIM:615731 ORPHA:171436 ORPHA:171439

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

KLHL7

kelch like family member 7

OMIM:617055

NCBI chr 7:23,105,785...23,177,914
Ensembl chr 7:23,105,758...23,177,914

KLLN

killin, p53 regulated DNA replication inhibitor

NCBI chr10:87,859,158...87,863,533
Ensembl chr10:87,859,158...87,863,533

KMT2A

lysine methyltransferase 2A

OMIM:605130 ORPHA:319182

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

KMT2B

lysine methyltransferase 2B

OMIM:619934

NCBI chr19:35,718,003...35,738,878
Ensembl chr19:35,717,973...35,738,880

KMT2D

lysine methyltransferase 2D

OMIM:147920 ORPHA:2322

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

KPTN

kaptin, actin binding protein

OMIM:615637 ORPHA:397612

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

KRAS

KRAS proto-oncogene, GTPase

OMIM:609942 OMIM:615278 ORPHA:1340 ORPHA:648

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

L1CAM

L1 cell adhesion molecule

OMIM:304100

NCBI chr X:153,861,514...153,886,173
Ensembl chr X:153,861,514...153,886,173

LAGE3

L antigen family member 3

OMIM:301006

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

LAMB2

laminin subunit beta 2

ORPHA:98915

NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

OMIM:620089

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

LGI4

leucine rich repeat LGI family member 4

OMIM:617468

NCBI chr19:35,124,513...35,135,059
Ensembl chr19:35,124,513...35,142,451

DNA ligase 4

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

LMBRD1

LMBR1 domain containing 1

OMIM:277380

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

LMNA

lamin A/C

OMIM:248370 ORPHA:740 ORPHA:90153

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

leiomodin 3

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

lysyl oxidase

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

LRP12

LDL receptor related protein 12

OMIM:164310 ORPHA:98897

NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258

LRP4

LDL receptor related protein 4

ORPHA:98913

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

LRRC8A

leucine rich repeat containing 8 VRAC subunit A

OMIM:613506 ORPHA:33110

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

LTBP1

latent transforming growth factor beta binding protein 1

OMIM:619451

NCBI chr 2:32,946,953...33,399,509
Ensembl chr 2:32,946,953...33,399,509

LTBP2

latent transforming growth factor beta binding protein 2

OMIM:251750, RGD:156451377

DNA:frameshift mutation:CDSS:p.V600GfsX2

HPO
RGD

PMID:20179738

NCBI chr14:74,498,183...74,612,237
Ensembl chr14:74,498,183...74,612,378

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

OMIM:605275 OMIM: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

MAD2L2

mitotic arrest deficient 2 like 2

NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811

MADD

MAP kinase activating death domain

OMIM:619004 OMIM:619005

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

MAMLD1

mastermind like domain containing 1

ORPHA:456328

NCBI chr X:150,361,572...150,514,173
Ensembl chr X:150,361,422...150,514,178

MAN2C1

mannosidase alpha class 2C member 1

OMIM:619775

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

MAP1B

microtubule associated protein 1B

OMIM:618918

NCBI chr 5:72,107,475...72,209,565
Ensembl chr 5:72,107,234...72,209,565

MAP2K1

mitogen-activated protein kinase kinase 1

OMIM: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

ClinVar Annotator: match by term: High palate

ORPHA:1340

NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122

MAP3K20

mitogen-activated protein kinase kinase kinase 20

ORPHA:2020

NCBI chr 2:173,075,517...173,268,015
Ensembl chr 2:173,075,435...173,268,015

MAP3K7

mitogen-activated protein kinase kinase kinase 7

OMIM:617137

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

MAPK1

mitogen-activated protein kinase 1

OMIM:619087

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

MAPK8IP3

mitogen-activated protein kinase 8 interacting protein 3

OMIM:618443

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

MAPKAPK5

MAPK activated protein kinase 5

OMIM:619869

NCBI chr12:111,842,228...111,902,222
Ensembl chr12:111,842,013...111,902,222

MARS1

methionyl-tRNA synthetase 1

OMIM:620323

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

MECP2

methyl-CpG binding protein 2

OMIM:300055 OMIM:300260 ORPHA:209370

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

MED12

mediator complex subunit 12

OMIM:300895 OMIM:309520 ORPHA:776 ORPHA:93932

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

MED13L

mediator complex subunit 13L

ORPHA:369891

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

MED25

mediator complex subunit 25

OMIM:616449

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

MEG3

maternally expressed 3

ORPHA:254531 ORPHA:96184

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031

MEGF10

multiple EGF like domains 10

OMIM:614399 OMIM:620249

NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737

MEGF8

multiple EGF like domains 8

OMIM:614976

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

MESD

mesoderm development LRP chaperone

OMIM:618644

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

MFAP5

microfibril associated protein 5

OMIM:616166

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

MID1

midline 1

OMIM:300000 ORPHA:2745

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

MINPP1

multiple inositol-polyphosphate phosphatase 1

ORPHA:284339

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

MKKS

MKKS centrosomal shuttling protein

ORPHA:110 ORPHA:2473

NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222

MKS1

MKS transition zone complex subunit 1

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

MN1

MN1 proto-oncogene, transcriptional regulator

OMIM:618774

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

MOGS

mannosyl-oligosaccharide glucosidase

OMIM:606056 ORPHA:79330

NCBI chr 2:74,461,057...74,465,382
Ensembl chr 2:74,461,057...74,465,410

MRAS

muscle RAS oncogene homolog

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

MRPL12

mitochondrial ribosomal protein L12

OMIM:618951

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

MSTO1

misato mitochondrial distribution and morphology regulator 1

OMIM:617675 ORPHA:502423

NCBI chr 1:155,563,246...155,614,967
Ensembl chr 1:155,563,235...155,614,951

MT-TE

mitochondrially encoded tRNA-Glu (GAA/G)

ORPHA:254864

NCBI chr MT:14,674...14,742
Ensembl chr MT:14,674...14,742

MT-TN

mitochondrially encoded tRNA-Asn (AAU/C)

OMIM:220110

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

MT-TS1

mitochondrially encoded tRNA-Ser (UCN) 1

OMIM:220110

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

MTM1

myotubularin 1

OMIM:310400 ORPHA:456328 ORPHA:596

NCBI chr X:150,562,653...150,673,143
Ensembl chr X:150,568,417...150,673,143

metaxin 2

NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025

MUSK

muscle associated receptor tyrosine kinase

OMIM:208150 ORPHA:98913

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

MYBPC1

myosin binding protein C1

OMIM:618524

NCBI chr12:101,594,971...101,695,841
Ensembl chr12:101,568,353...101,686,028

MYCN

MYCN proto-oncogene, bHLH transcription factor

OMIM:164280

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

myosin heavy chain 2

NCBI chr17:10,521,148...10,549,658
Ensembl chr17:10,521,148...10,549,700

MYH3

myosin heavy chain 3

OMIM:193700 ORPHA:1147 ORPHA:2990

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

MYH7

myosin heavy chain 7

OMIM:160500 OMIM:255160 ORPHA:324604 ORPHA:59135

NCBI chr14:23,412,740...23,435,660
Ensembl chr14:23,412,740...23,435,660

myosin light chain 1

NCBI chr 2:210,290,150...210,315,174
Ensembl chr 2:210,290,150...210,315,174

MYL11

myosin light chain 11

OMIM:619110

NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991

myosin light chain 2

NCBI chr12:110,910,845...110,921,449
Ensembl chr12:110,909,996...111,052,434

MYMK

myomaker, myoblast fusion factor

OMIM:254940 ORPHA:1358

NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612

MYMX

myomixer, myoblast fusion factor

ORPHA:1358

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

myosin XVIIIB

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

myosin IXA

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

MYOD1

myogenic differentiation 1

OMIM:618975

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

MYPN

myopalladin

OMIM:617336 ORPHA:171439 ORPHA:171881

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

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:300855 OMIM:309800

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

NALCN

sodium leak channel, non-selective

ORPHA:1147 ORPHA:562528

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

neurochondrin

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

NDUFA8

NADH:ubiquinone oxidoreductase subunit A8

OMIM:619272

NCBI chr 9:122,132,466...122,159,779
Ensembl chr 9:122,144,058...122,159,779

NEB

nebulin

OMIM:256030 ORPHA:171436 ORPHA:171439 ORPHA:399103

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

NEFL

neurofilament light chain

OMIM:607684

NCBI chr 8:24,950,955...24,956,612
Ensembl chr 8:24,950,955...24,956,721

NEK1

NIMA related kinase 1

OMIM:252100 ORPHA:2751

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

NEK9

NIMA related kinase 9

OMIM:617022

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

neurofibromin 1

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

NFIX

nuclear factor I X

OMIM:602535 ORPHA:420179

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

NIPBL

NIPBL cohesin loading factor

OMIM:122470 ORPHA:199

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

NODAL

nodal growth differentiation factor

NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951

notch receptor 2

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

NOTCH2NLC

notch 2 N-terminal like C

NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833

NOTCH3

notch receptor 3

OMIM: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

NR2F1

nuclear receptor subfamily 2 group F member 1

OMIM:615722

NCBI chr 5:93,583,222...93,594,611
Ensembl chr 5:93,583,222...93,594,611

NRAS

NRAS proto-oncogene, GTPase

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

NRCAM

neuronal cell adhesion molecule

OMIM: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

OMIM:117550

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

NSDHL

NAD(P) dependent steroid dehydrogenase-like

ClinVar Annotator: match by term: Increased palatal height

OMIM:300831 ORPHA:251383

NCBI chr X:152,831,063...152,869,729
Ensembl chr X:152,830,967...152,869,729

NSRP1

nuclear speckle splicing regulatory protein 1

OMIM:620001

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

NSUN2

NOP2/Sun RNA methyltransferase 2

ORPHA:235

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

NUP107

nucleoporin 107

OMIM:616730 OMIM:618348

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

nucleoporin 188

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

nucleoporin 88

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

OBSL1

obscurin like cytoskeletal adaptor 1

OMIM:612921

NCBI chr 2:219,547,206...219,571,539
Ensembl chr 2:219,550,728...219,571,859

occludin

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

ODC1

ornithine decarboxylase 1

OMIM:619075

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

OMIM:300209 OMIM:311200 ORPHA:2750 ORPHA:2754

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

OGDHL

oxoglutarate dehydrogenase L

OMIM:619701

NCBI chr10:49,734,641...49,762,379
Ensembl chr10:49,734,641...49,762,379

ORC1

origin recognition complex subunit 1

OMIM:224690

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

OSGEP

O-sialoglycoprotein endopeptidase

OMIM:617729

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

OTUD6B

OTU deubiquitinase 6B

OMIM:617452 ORPHA:505237

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

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

PAH

phenylalanine hydroxylase

ORPHA:2209

NCBI chr12:102,836,889...102,958,441
Ensembl chr12:102,836,889...102,958,410

PAK3

p21 (RAC1) activated kinase 3

OMIM:300558

NCBI chr X:110,944,397...111,227,361
Ensembl chr X:110,944,285...111,227,361

PALB2

partner and localizer of BRCA2

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

paired box 1

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

paired box 7

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

PCGF2

polycomb group ring finger 2

OMIM:618371

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

PCLO

piccolo presynaptic cytomatrix protein

OMIM:608027

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

phosphodiesterase 6D

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

PDHX

pyruvate dehydrogenase complex component X

OMIM:245349

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

PDZD8

PDZ domain containing 8

OMIM: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

OMIM:214100 ORPHA:912

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

PEX10

peroxisomal biogenesis factor 10

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

PEX11B

peroxisomal biogenesis factor 11 beta

NCBI chr 1:145,911,348...145,918,717
Ensembl chr 1:145,911,350...145,918,717

PEX12

peroxisomal biogenesis factor 12

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

PEX13

peroxisomal biogenesis factor 13

NCBI chr 2:61,017,720...61,051,990
Ensembl chr 2:61,017,225...61,051,990

PEX14

peroxisomal biogenesis factor 14

NCBI chr 1:10,474,950...10,630,758
Ensembl chr 1:10,472,288...10,630,758

PEX16

peroxisomal biogenesis factor 16

NCBI chr11:45,909,663...45,918,822
Ensembl chr11:45,909,663...45,918,812

PEX19

peroxisomal biogenesis factor 19

NCBI chr 1:160,276,807...160,285,151
Ensembl chr 1:160,276,807...160,286,348

PEX2

peroxisomal biogenesis factor 2

OMIM:614866 ORPHA:912

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

PEX26

peroxisomal biogenesis factor 26

OMIM:614872 ORPHA:912

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

PEX3

peroxisomal biogenesis factor 3

OMIM:614882 ORPHA:912

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

PEX5

peroxisomal biogenesis factor 5

OMIM:202370 ORPHA:912

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

PEX6

peroxisomal biogenesis factor 6

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

PGAP2

post-GPI attachment to proteins 2

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

PGAP3

post-GPI attachment to proteins phospholipase 3

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

PGM2L1

phosphoglucomutase 2 like 1

OMIM:620191

NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433

PGM3

phosphoglucomutase 3

OMIM:615816 ORPHA:443811

NCBI chr 6:83,148,705...83,193,900
Ensembl chr 6:83,147,324...83,193,936

PHIP

pleckstrin homology domain interacting protein

OMIM:617991

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

OMIM:108145 OMIM:114300 OMIM:248700 OMIM:617146 ORPHA:376

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

PIGA

phosphatidylinositol glycan anchor biosynthesis class A

OMIM: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

OMIM:618580

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

PIGH

phosphatidylinositol glycan anchor biosynthesis class H

OMIM:618010

NCBI chr14:67,589,306...67,600,301
Ensembl chr14:67,581,955...67,600,286

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

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

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

OMIM:614080 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

NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

OMIM:615398

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

PIGU

phosphatidylinositol glycan anchor biosynthesis class U

OMIM:618590

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

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

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

OMIM:616025 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

OMIM:616809 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

OMIM:615108 ORPHA:201

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

PIK3R1

phosphoinositide-3-kinase regulatory subunit 1

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

PLAA

phospholipase A2 activating protein

OMIM:617527 ORPHA:521426

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

PLAGL1

PLAG1 like zinc finger 1

ORPHA:96191

NCBI chr 6:143,940,300...144,064,599
Ensembl chr 6:143,940,300...144,064,599

PLCH1

phospholipase C eta 1

ORPHA:93925

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

PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ClinVar Annotator: match by term: Increased palatal height

NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538

plexin D1

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

phosphomannomutase 2

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

POGZ

pogo transposable element derived with ZNF domain

OMIM: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

OMIM:616462

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

POLR1B

RNA polymerase I subunit B

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

NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419

POLR1D

RNA polymerase I and III subunit D

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

POLR2A

RNA polymerase II subunit A

OMIM:618603

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

POLRMT

RNA polymerase mitochondrial

OMIM:619743

NCBI chr19:617,221...633,537
Ensembl chr19:617,221...633,537

PPP1CB

protein phosphatase 1 catalytic subunit beta

OMIM:617506

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

PPP1R21

protein phosphatase 1 regulatory subunit 21

OMIM:619383

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

PPP2CA

protein phosphatase 2 catalytic subunit alpha

OMIM:618354

NCBI chr 5:134,194,332...134,226,073
Ensembl chr 5:134,194,035...134,226,073

PPP2R5D

protein phosphatase 2 regulatory subunit B'delta

ORPHA:457279

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

PQBP1

polyglutamine binding protein 1

OMIM:309500

NCBI chr X:48,897,930...48,903,143
Ensembl chr X:48,890,197...48,903,402

PRMT7

protein arginine methyltransferase 7

OMIM:617157

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

PRPS1

phosphoribosyl pyrophosphate synthetase 1

OMIM:300661

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

PSAT1

phosphoserine aminotransferase 1

OMIM:616038

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

PTCH1

patched 1

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

PTEN

phosphatase and tensin homolog

OMIM:158350 OMIM:605309 ORPHA:201

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

PTPN11

protein tyrosine phosphatase non-receptor type 11

OMIM:163950 ORPHA:648

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

PTPN14

protein tyrosine phosphatase non-receptor type 14

OMIM:613611

NCBI chr 1:214,348,700...214,551,602
Ensembl chr 1:214,348,700...214,552,449

PUM1

pumilio RNA binding family member 1

OMIM:617931

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

PURA

purine rich element binding protein A

OMIM:616158 ORPHA:314655 ORPHA:438216

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

PUS1

pseudouridine synthase 1

OMIM:600462 ORPHA:2598

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

PUS7

pseudouridine synthase 7

OMIM:618342

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

PYCR1

pyrroline-5-carboxylate reductase 1

OMIM:612940

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

PYROXD1

pyridine nucleotide-disulphide oxidoreductase domain 1

OMIM:617258

NCBI chr12:21,437,655...21,471,250
Ensembl chr12:21,437,615...21,471,250

QARS1

glutaminyl-tRNA synthetase 1

OMIM:615760

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

glutamine rich 1

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

RAB18

RAB18, member RAS oncogene family

ORPHA:2510

NCBI chr10:27,504,304...27,542,239
Ensembl chr10:27,504,174...27,543,207

RAB23

RAB23, member RAS oncogene family

OMIM:201000

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

RAB3GAP1

RAB3 GTPase activating protein catalytic subunit 1

ORPHA:1387 ORPHA:2510

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

RAB3GAP2

RAB3 GTPase activating non-catalytic protein subunit 2

OMIM:212720 ORPHA:1387 ORPHA:2510

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

RAD21

RAD21 cohesin complex component

ORPHA:199

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

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

RAP1B

RAP1B, member of RAS oncogene family

OMIM:620654

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

RAPSN

receptor associated protein of the synapse

OMIM:616326 OMIM:618388 ORPHA:98913

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

RASA2

RAS p21 protein activator 2

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

RBM10

RNA binding motif protein 10

OMIM:311900

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

RECQL4

RecQ like helicase 4

OMIM:218600 OMIM:266280 OMIM:268400 ORPHA:1225 ORPHA:221016

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

REEP1

receptor accessory protein 1

OMIM:620011

NCBI chr 2:86,213,993...86,338,083
Ensembl chr 2:86,213,993...86,338,083

RERE

arginine-glutamic acid dipeptide repeats

OMIM:616975

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

ret proto-oncogene

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

REV3L

REV3 like, DNA directed polymerase zeta catalytic subunit

ORPHA:570

NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715

RFWD3

ring finger and WD repeat domain 3

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

regulatory factor X7

NCBI chr15:56,087,280...56,245,082
Ensembl chr15:56,087,280...56,245,082

RILPL1

Rab interacting lysosomal protein like 1

OMIM:619790 ORPHA:98897

NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719

RIN2

Ras and Rab interactor 2

OMIM:613075 ORPHA:217335

NCBI chr20:19,757,599...20,002,456
Ensembl chr20:19,757,606...20,002,457

RIT1

Ras like without CAAX 1

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

ribonuclease H1

NCBI chr 2:3,531,813...3,558,333
Ensembl chr 2:3,541,430...3,558,333

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

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

OMIM: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

RPS23

ribosomal protein S23

OMIM:617412

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

RPS24

ribosomal protein S24

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

RPS26

ribosomal protein S26

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

OMIM:303600 ORPHA:192

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

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

RRM2B

ribonucleotide reductase regulatory TP53 inducible subunit M2B

ORPHA:329336

NCBI chr 8:102,204,501...102,238,961
Ensembl chr 8:102,204,502...102,238,961

RTL1

retrotransposon Gag like 1

ORPHA:254531 ORPHA:96184

NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722

RUNX2

RUNX family transcription factor 2

OMIM:119600

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

OMIM:617773

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

RYR1

ryanodine receptor 1

OMIM:255320 OMIM:619542 ORPHA:169186 ORPHA:98905

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

ryanodine receptor 3

NCBI chr15:33,310,967...33,866,102
Ensembl chr15:33,310,962...33,866,121

SATB2

SATB homeobox 2

OMIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283

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

sterol-C5-desaturase

NCBI chr11:121,292,771...121,313,410
Ensembl chr11:121,292,681...121,313,410

SCAF4

SR-related CTD associated factor 4

OMIM:620511

NCBI chr21:31,671,000...31,732,118
Ensembl chr21:31,671,000...31,732,118

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

SCARF2

scavenger receptor class F member 2

OMIM:600920

NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826

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

SCN4A

sodium voltage-gated channel alpha subunit 4

OMIM:614198 OMIM:620351 OMIM:620369 ORPHA:98913

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

SCNM1

sodium channel modifier 1

OMIM:620107

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

SCO2

synthesis of cytochrome C oxidase 2

OMIM:604377

NCBI chr22:50,523,568...50,526,442
Ensembl chr22:50,523,568...50,526,461

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

SDHB

succinate dehydrogenase complex iron sulfur subunit B

NCBI chr 1:17,018,722...17,054,032
Ensembl chr 1:17,018,664...17,054,151

SDHC

succinate dehydrogenase complex subunit C

NCBI chr 1:161,314,381...161,363,206
Ensembl chr 1:161,314,381...161,363,206

SDHD

succinate dehydrogenase complex subunit D

NCBI chr11:112,086,873...112,095,794
Ensembl chr11:112,086,824...112,120,016

SEC23A

SEC23 homolog A, COPII coat complex component

OMIM:607812 ORPHA:50814

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

SEC23B

SEC23 homolog B, COPII coat complex component

NCBI chr20:18,507,548...18,561,415
Ensembl chr20:18,507,520...18,561,415

SEC24D

SEC24 homolog D, COPII coat complex component

OMIM:616294

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

SEC31A

SEC31 homolog A, COPII coat complex component

OMIM:618651

NCBI chr 4:82,818,509...82,900,569
Ensembl chr 4:82,818,509...82,901,166

SELENON

selenoprotein N

OMIM:602771 ORPHA:2020 ORPHA:324604

NCBI chr 1:25,800,193...25,818,221
Ensembl chr 1:25,800,193...25,818,221

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

OMIM:618106

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

SETBP1

SET binding protein 1

OMIM:616078 ORPHA:798

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

SH3PXD2B

SH3 and PX domains 2B

OMIM:249420

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

SHANK3

SH3 and multiple ankyrin repeat domains 3

OMIM:606232

NCBI chr22:50,672,823...50,733,212
Ensembl chr22:50,674,408...50,733,212

SHH

sonic hedgehog signaling molecule

NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463

SHOC2

SHOC2 leucine rich repeat scaffold protein

OMIM:607721, RGD:11071178

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

HPO
RGD

PMID:20882035

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

SHOX

SHOX homeobox

OMIM:127300 OMIM:249700 ORPHA:2632 ORPHA:314795

NCBI chr  Y:624,344...659,411
NCBI chr  X:624,344...659,411
Ensembl chr  Y:624,344...659,411
Ensembl chr  X:624,344...659,411

SIAH1

siah E3 ubiquitin protein ligase 1

OMIM:619314

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

SIK family kinase 3

NCBI chr11:116,843,402...117,098,428
Ensembl chr11:116,843,402...117,098,437

SIN3A

SIN3 transcription regulator family member A

OMIM:613406

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

SIX homeobox 1

NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259

SIX3

SIX homeobox 3

NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071

SKI proto-oncogene

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

SLC10A7

solute carrier family 10 member 7

OMIM:618363

NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372

SLC12A6

solute carrier family 12 member 6

OMIM:218000

NCBI chr15:34,229,784...34,338,057
Ensembl chr15:34,229,784...34,338,060

SLC17A5

solute carrier family 17 member 5

OMIM:269920

NCBI chr 6:73,593,379...73,653,992
Ensembl chr 6:73,593,379...73,653,992

SLC18A3

solute carrier family 18 member A3

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

SLC25A1

solute carrier family 25 member 1

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

SLC26A2

solute carrier family 26 member 2

ORPHA:93307

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

SLC2A10

solute carrier family 2 member 10

OMIM:208050

NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347

SLC35A2

solute carrier family 35 member A2

OMIM:300896

NCBI chr X:48,903,183...48,911,958
Ensembl chr X:48,903,180...48,911,958

SLC39A13

solute carrier family 39 member 13

OMIM:612350

NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496

SLC39A7

solute carrier family 39 member 7

NCBI chr 6:33,200,867...33,204,437
Ensembl chr 6:33,200,305...33,204,439

SLC5A7

solute carrier family 5 member 7

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

SLF2

SMC5-SMC6 complex localization factor 2

OMIM:620184

NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134

SLX4

SLX4 structure-specific endonuclease subunit

NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606

SMAD2

SMAD family member 2

OMIM:619656 OMIM:619657 ORPHA:60030

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

SMAD3

SMAD family member 3

OMIM:613795 ORPHA:284984 ORPHA:60030

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

SMARCB1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1

OMIM:614608

NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009

SMARCD1

SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1

OMIM:618779

NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707

SMC1A

structural maintenance of chromosomes 1A

OMIM:300590 ORPHA:199 ORPHA:220386

NCBI chr X:53,374,149...53,422,728
Ensembl chr X:53,374,149...53,422,728

SMC3

structural maintenance of chromosomes 3

OMIM:610759 ORPHA:199

NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048

SMC5

structural maintenance of chromosomes 5

OMIM:620185

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

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

OMIM:603457

NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017

SMG9

SMG9 nonsense mediated mRNA decay factor

OMIM:619995

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

SMOC1

SPARC related modular calcium binding 1

OMIM:206920 ORPHA:1106

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

spermine synthase

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

SNAP25

synaptosome associated protein 25

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

SNIP1

Smad nuclear interacting protein 1

OMIM:614501

NCBI chr 1:37,534,449...37,554,293
Ensembl chr 1:37,534,449...37,554,293

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

OMIM:117650

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

SNRPN

small nuclear ribonucleoprotein polypeptide N

ORPHA:177907

NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723

SNX14

sorting nexin 14

OMIM:616354 ORPHA:397709

NCBI chr 6:85,505,496...85,593,858
Ensembl chr 6:85,504,776...85,594,156

SON

SON DNA and RNA binding protein

OMIM:617140

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

SOS1

SOS Ras/Rac guanine nucleotide exchange factor 1

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

SOS2

SOS Ras/Rho guanine nucleotide exchange factor 2

NCBI chr14:50,117,130...50,231,882
Ensembl chr14:50,117,130...50,231,578

SOX11

SRY-box transcription factor 11

OMIM:615866

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

SOX6

SRY-box transcription factor 6

OMIM:618971

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

SOX9

SRY-box transcription factor 9

OMIM:114290

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

SP7

Sp7 transcription factor

OMIM:613849

NCBI chr12:53,326,575...53,344,793
Ensembl chr12:53,326,575...53,345,315

SPEG

striated muscle enriched protein kinase

OMIM:615959 ORPHA:169186

NCBI chr 2:219,434,843...219,493,629
Ensembl chr 2:219,434,843...219,493,629

SPEN

spen family transcriptional repressor

OMIM:619312

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

Spi-1 proto-oncogene

NCBI chr11:47,354,860...47,378,547
Ensembl chr11:47,354,860...47,409,369

SPOP

speckle type BTB/POZ protein

OMIM:618829

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

SPRED1

sprouty related EVH1 domain containing 1

OMIM:611431

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

SPRED2

sprouty related EVH1 domain containing 2

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

SPTAN1

spectrin alpha, non-erythrocytic 1

OMIM:620528

NCBI chr 9:128,552,587...128,633,662
Ensembl chr 9:128,552,558...128,633,662

SPTBN1

spectrin beta, non-erythrocytic 1

OMIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

SPTBN4

spectrin beta, non-erythrocytic 4

OMIM:617519

NCBI chr19:40,467,001...40,576,464
Ensembl chr19:40,466,241...40,576,464

SRY

sex determining region Y

ORPHA:1772

NCBI chr Y:2,786,855...2,787,682
Ensembl chr Y:2,786,855...2,787,682

STAC3

SH3 and cysteine rich domain 3

OMIM:255995 ORPHA:168572

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

STAG1

STAG1 cohesin complex component

ORPHA:502434

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

STAG2

STAG2 cohesin complex component

ORPHA:220386 ORPHA:93925

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

STAT3

signal transducer and activator of transcription 3

OMIM:147060

NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568

STIL

STIL centriolar assembly protein

NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892

SURF1

SURF1 cytochrome c oxidase assembly factor

OMIM:220110

NCBI chr 9:133,351,758...133,356,487
Ensembl chr 9:133,351,758...133,356,676

SYNGAP1

synaptic Ras GTPase activating protein 1

ORPHA:544254

NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689

synaptotagmin 2

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

TAB2

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

ORPHA:228410

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

TAF1

TATA-box binding protein associated factor 1

ORPHA:480907

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374

TAF4

TATA-box binding protein associated factor 4

OMIM:620450

NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881

TAF6

TATA-box binding protein associated factor 6

OMIM:617126

NCBI chr 7:100,107,070...100,127,171
Ensembl chr 7:100,106,876...100,119,841

taspase 1

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

TBC1D20

TBC1 domain family member 20

ORPHA:2510

NCBI chr20:435,480...462,533
Ensembl chr20:423,596...462,566

TBC1D24

TBC1 domain family member 24

OMIM:220500 ORPHA:79500

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

TBX1

T-box transcription factor 1

OMIM:188400

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

TBX4

T-box transcription factor 4

OMIM:147891

NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110

TCF3

transcription factor 3

NCBI chr19:1,609,292...1,652,615
Ensembl chr19:1,609,291...1,652,615

TCOF1

treacle ribosome biogenesis factor 1

NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308

TCTN3

tectonic family member 3

OMIM:258860 ORPHA:2754

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

TET3

tet methylcytosine dioxygenase 3

OMIM:618798

NCBI chr 2:73,983,631...74,135,498
Ensembl chr 2:73,984,910...74,108,176

TFAP2A

transcription factor AP-2 alpha

ClinVar Annotator: match by term: Increased palatal height

ORPHA:1297

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

TGDS

TDP-glucose 4,6-dehydratase

OMIM:616145

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

TGFB2

transforming growth factor beta 2

OMIM:614816 ORPHA:60030

NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619

TGFB3

transforming growth factor beta 3

OMIM:615582 ORPHA:60030

NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011

TGFBR1

transforming growth factor beta receptor 1

OMIM:609192 ORPHA:60030

NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192

TGFBR2

transforming growth factor beta receptor 2

ORPHA:60030

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249

TGIF1

TGFB induced factor homeobox 1

NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978

THOC2

THO complex subunit 2

ORPHA:457240

NCBI chr X:123,600,569...123,733,052
Ensembl chr X:123,600,561...123,733,056

THSD4

thrombospondin type 1 domain containing 4

OMIM:619825

NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383

TIMM50

translocase of inner mitochondrial membrane 50

OMIM:617698

NCBI chr19:39,480,838...39,493,779
Ensembl chr19:39,480,412...39,493,785

TLK2

tousled like kinase 2

OMIM:618050

NCBI chr17:62,470,914...62,615,481
Ensembl chr17:62,458,658...62,615,481

TMCO1

transmembrane and coiled-coil domains 1

OMIM:213980

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

TMEM216

transmembrane protein 216

OMIM:608091 ORPHA:2754

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

TNNI2

troponin I2, fast skeletal type

OMIM:601680 ORPHA:1147

NCBI chr11:1,838,981...1,841,678
Ensembl chr11:1,838,981...1,841,680

TNNT1

troponin T1, slow skeletal type

OMIM:620389

NCBI chr19:55,132,698...55,149,206
Ensembl chr19:55,132,698...55,149,206

TNNT3

troponin T3, fast skeletal type

ORPHA:1147

NCBI chr11:1,919,552...1,938,702
Ensembl chr11:1,919,703...1,938,706

TOE1

target of EGR1, exonuclease

OMIM:614969 ORPHA:284339

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

TOGARAM1

TOG array regulator of axonemal microtubules 1

OMIM:619185

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

TOPORS

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase

ORPHA:2754

NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586

TPM2

tropomyosin 2

OMIM:609285 ORPHA:1147 ORPHA:171436 ORPHA:171439 ORPHA:171881 ORPHA:2020

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

TPM3

tropomyosin 3

OMIM:255310 OMIM:609284 ORPHA:171439 ORPHA:171881 ORPHA:2020

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

TRIM32

tripartite motif containing 32

NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300

TRIO

trio Rho guanine nucleotide exchange factor

OMIM:617061 OMIM:618825 ORPHA:476126

NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128

TRIP12

thyroid hormone receptor interactor 12

OMIM:617752

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

TRIP4

thyroid hormone receptor interactor 4

OMIM:616866 OMIM:617066 ORPHA:486815

NCBI chr15:64,387,836...64,455,303
Ensembl chr15:64,387,748...64,455,303

TRMU

tRNA mitochondrial 2-thiouridylase

ORPHA:254864

NCBI chr22:46,335,714...46,357,340
Ensembl chr22:46,330,875...46,357,340

TRPM3

transient receptor potential cation channel subfamily M member 3

OMIM:620224

NCBI chr 9:70,529,060...71,446,971
Ensembl chr 9:70,529,060...71,446,977

TRPS1

transcriptional repressor GATA binding 1

ORPHA:77258

NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673

TSPEAR

thrombospondin type laminin G domain and EAR repeats

OMIM:620173

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

TSR2

TSR2 ribosome maturation factor

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

TTC5

tetratricopeptide repeat domain 5

OMIM:619244

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

TTC8

tetratricopeptide repeat domain 8

NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078

TTN

titin

ORPHA:169186 ORPHA:324604

NCBI chr 2:178,525,989...178,807,423
Ensembl chr 2:178,525,989...178,830,802

tubulin beta class I

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

TUBB3

tubulin beta 3 class III

ORPHA:300570

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

TWIST1

twist family bHLH transcription factor 1

OMIM:617746

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

TWIST2

twist family bHLH transcription factor 2

OMIM:209885

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

TWNK

twinkle mtDNA helicase

OMIM:616138

NCBI chr10:100,987,543...100,994,403
Ensembl chr10:100,987,367...100,994,403

UBA1

ubiquitin like modifier activating enzyme 1

ORPHA:1145

NCBI chr X:47,190,847...47,215,128
Ensembl chr X:47,190,861...47,215,128

UBAP2L

ubiquitin associated protein 2 like

OMIM:620494

NCBI chr 1:154,220,172...154,271,510
Ensembl chr 1:154,220,179...154,271,510

UBE2T

ubiquitin conjugating enzyme E2 T

NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984

UBE3B

ubiquitin protein ligase E3B

OMIM:244450

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

UPF3B

UPF3B regulator of nonsense mediated mRNA decay

OMIM:300676 ORPHA:776

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

USF3

upstream transcription factor family member 3

NCBI chr 3:113,648,385...113,696,642
Ensembl chr 3:113,648,385...113,696,646

USH2A

usherin

ClinVar Annotator: match by term: High palate

PMID:9624053 PMID:10090909 PMID:10729113 PMID:10909849 PMID:11402400 More...

NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448

USH2A-AS2

USH2A antisense RNA 2

ClinVar Annotator: match by term: High palate

NCBI chr 1:216,072,465...216,086,917
Ensembl chr 1:216,072,465...216,086,917

USP9X

ubiquitin specific peptidase 9 X-linked

ORPHA:480880

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

VAMP1

vesicle associated membrane protein 1

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

VPS51

VPS51 subunit of GARP complex

OMIM:618606

NCBI chr11:65,096,214...65,111,862
Ensembl chr11:65,089,324...65,111,862

WARS2

tryptophanyl tRNA synthetase 2, mitochondrial

ORPHA:572798

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

WDPCP

WD repeat containing planar cell polarity effector

NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843

WD repeat domain 11

NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524

WDR35

WD repeat domain 35

OMIM:613610 OMIM:614091

NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105

WD repeat domain 4

NCBI chr21:42,843,094...42,892,998
Ensembl chr21:42,843,094...42,879,568

WD repeat domain 73

NCBI chr15:84,639,285...84,654,283
Ensembl chr15:84,639,285...84,654,343

WLS

Wnt ligand secretion mediator

OMIM:619648

NCBI chr 1:68,098,459...68,232,546
Ensembl chr 1:68,098,473...68,233,120

Wnt family member 5A

NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539

Wnt family member 7A

NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071

XRCC2

X-ray repair cross complementing 2

NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193

YARS1

tyrosyl-tRNA synthetase 1

OMIM:619418

NCBI chr 1:32,775,239...32,817,358
Ensembl chr 1:32,775,237...32,818,031

YARS2

tyrosyl-tRNA synthetase 2

ORPHA:2598

NCBI chr12:32,746,544...32,755,897
Ensembl chr12:32,727,490...32,755,897

YWHAE

tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon

ORPHA:217385

NCBI chr17:1,344,275...1,400,222
Ensembl chr17:1,344,275...1,400,222

YY1

YY1 transcription factor

OMIM:617557 ORPHA:506358

NCBI chr14:100,239,144...100,282,788
Ensembl chr14:100,238,298...100,282,788

ZBTB20

zinc finger and BTB domain containing 20

OMIM:259050

NCBI chr 3:114,314,500...115,147,288
Ensembl chr 3:114,314,500...115,147,292

ZBTB24

zinc finger and BTB domain containing 24

OMIM:614069

NCBI chr 6:109,462,594...109,483,219
Ensembl chr 6:109,460,632...109,483,239

ZC4H2

zinc finger C4H2-type containing

OMIM:314580

NCBI chr X:64,915,807...65,034,741
Ensembl chr X:64,915,802...65,034,713

ZDHHC9

zinc finger DHHC-type palmitoyltransferase 9

ORPHA:776

NCBI chr X:129,803,288...129,843,886
Ensembl chr X:129,803,288...129,843,909

ZIC2

Zic family member 2

OMIM:609637 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765

ZMPSTE24

zinc metallopeptidase STE24

OMIM:608612 ORPHA:740

NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180

ZMYM2

zinc finger MYM-type containing 2

OMIM:619522

NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829

ZNF292

zinc finger protein 292

OMIM:619188

NCBI chr 6:87,155,565...87,265,943
Ensembl chr 6:87,151,803...87,265,943

ZNF341

zinc finger protein 341

OMIM:618282

NCBI chr20:33,731,996...33,792,269
Ensembl chr20:33,731,657...33,792,269

ZNF668

zinc finger protein 668

OMIM:620194

NCBI chr16:31,060,847...31,074,240
Ensembl chr16:31,060,843...31,074,240

ZNF699

zinc finger protein 699

OMIM:619488

NCBI chr19:9,291,140...9,309,838
Ensembl chr19:9,291,140...9,309,838

High, narrow palate

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AARS1

alanyl-tRNA synthetase 1

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

ABCC6

ATP binding cassette subfamily C member 6

OMIM:177850

NCBI chr16:16,149,565...16,223,494
Ensembl chr16:16,149,565...16,223,522

ACTA1

actin alpha 1, skeletal muscle

ORPHA:171433

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

ADNP

activity dependent neuroprotector homeobox

OMIM:615873

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

AFF4

ALF transcription elongation factor 4

OMIM:616368

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

AMER1

APC membrane recruitment protein 1

ORPHA:2780

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

ANTXR1

ANTXR cell adhesion molecule 1

OMIM:230740

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

APC

APC regulator of WNT signaling pathway

ORPHA:3258

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

ARID2

AT-rich interaction domain 2

OMIM:617808

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

ARL6

ADP ribosylation factor like GTPase 6

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

ASXL3

ASXL transcriptional regulator 3

ORPHA:352577

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

atrophin 1

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

ATP7A

ATPase copper transporting alpha

ORPHA:198

NCBI chr X:77,910,693...78,050,395
Ensembl chr X:77,910,690...78,050,395

BBS1

Bardet-Biedl syndrome 1

NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613

BCL6 corepressor

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

BCR

BCR activator of RhoGEF and GTPase

ORPHA:261330

NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037

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

BRAF

B-Raf proto-oncogene, serine/threonine kinase

OMIM:163950

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

CARS1

cysteinyl-tRNA synthetase 1

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

CCDC22

coiled-coil domain containing 22

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

CCDC28B

coiled-coil domain containing 28B

NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453

CDC45

cell division cycle 45

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

CDC6

cell division cycle 6

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

CDK10

cyclin dependent kinase 10

OMIM:617694

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

CDK5RAP2

CDK5 regulatory subunit associated protein 2

DNA:mutations:splice junction:c.383+1G>C,c.4005-9A>G(human)

RGD

PMID:26436113

RGD:13450906

NCBI chr 9:120,388,875...120,580,167
Ensembl chr 9:120,388,875...120,580,170

CDT1

chromatin licensing and DNA replication factor 1

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

contactin 1

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

COL11A1

collagen type XI alpha 1 chain

OMIM:604841

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

COL12A1

collagen type XII alpha 1 chain

ORPHA:536516

NCBI chr 6:75,084,326...75,206,053
Ensembl chr 6:75,084,326...75,206,267

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

COPB1

COPI coat complex subunit beta 1

OMIM:619255

NCBI chr11:14,457,512...14,499,811
Ensembl chr11:14,443,440...14,500,027

CPT2

carnitine palmitoyltransferase 2

ORPHA:228308

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

CREB binding protein

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

CRKL

CRK like proto-oncogene, adaptor protein

ORPHA:261330

NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747

DEAD-box helicase 59

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

DIS3L2

DIS3 like 3'-5' exoribonuclease 2

ORPHA:2849

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

DPM1

dolichyl-phosphate mannosyltransferase subunit 1, catalytic

OMIM:608799 ORPHA:79322

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

DPYSL5

dihydropyrimidinase like 5

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

DVL1

dishevelled segment polarity protein 1

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

ORPHA:3107

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

elastin

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

EP300

E1A binding protein p300

OMIM:180849

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

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

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

FBN1

fibrillin 1

ClinVar Annotator: match by term: Narrow, highly arched roof of mouth

OMIM:616914 ORPHA:2462 ORPHA:284979 ORPHA:91387

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

FGFR1

fibroblast growth factor receptor 1

OMIM:190440

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

FGFR3

fibroblast growth factor receptor 3

ORPHA:53271

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

FIG4

FIG4 phosphoinositide 5-phosphatase

ORPHA:3472

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

forkhead box E3

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

forkhead box P2

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

FZD2

frizzled class receptor 2

ORPHA:3107

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

GIPC1

GIPC PDZ domain containing family member 1

NCBI chr19:14,477,762...14,496,127
Ensembl chr19:14,477,760...14,496,149

GMNN

geminin DNA replication inhibitor

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

GNE

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

ORPHA:3166

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

glypican 3

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

glypican 4

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

GRB10

growth factor receptor bound protein 10

ORPHA:96182

NCBI chr 7:50,590,068...50,793,453
Ensembl chr 7:50,590,063...50,793,462

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

H4C5

H4 clustered histone 5

OMIM:619950

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

HECW2

HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2

OMIM:617268

NCBI chr 2:196,194,072...196,593,554
Ensembl chr 2:196,189,099...196,593,684

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

HNRNPK

heterogeneous nuclear ribonucleoprotein K

ORPHA:352665 ORPHA:453504

NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631

IFT122

intraflagellar transport 122

OMIM:218330

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

INTU

inturned planar cell polarity protein

OMIM:617926

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

importin 8

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

KCNK9

potassium two pore domain channel subfamily K member 9

ORPHA:166108

NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109

KIF26A

kinesin family member 26A

OMIM:620156

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

KLHL41

kelch like family member 41

ORPHA:171433

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

lysyl oxidase

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

LRP12

LDL receptor related protein 12

NCBI chr 8:104,489,236...104,589,258
Ensembl chr 8:104,489,231...104,589,258

LRP4

LDL receptor related protein 4

ORPHA:3258

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

MAP2K1

mitogen-activated protein kinase kinase 1

OMIM:163950

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

MAP3K7

mitogen-activated protein kinase kinase kinase 7

ORPHA:3238

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

MAPK1

mitogen-activated protein kinase 1

ORPHA:261330

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

MARS1

methionyl-tRNA synthetase 1

OMIM:619692

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

MAT2A

methionine adenosyltransferase 2A

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

MCM3AP

minichromosome maintenance complex component 3 associated protein

OMIM:618124

NCBI chr21:46,235,133...46,286,265
Ensembl chr21:46,235,133...46,286,297

MED12L

mediator complex subunit 12L

OMIM:618872

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

MED25

mediator complex subunit 25

ORPHA:464738

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

MEGF8

multiple EGF like domains 8

OMIM:614976

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

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

MUSK

muscle associated receptor tyrosine kinase

OMIM:208150

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

MYH11

myosin heavy chain 11

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

MYLK

myosin light chain kinase

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

MYMX

myomixer, myoblast fusion factor

OMIM:619941

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

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

OMIM:309800 ORPHA:276432

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

NDUFAF6

NADH:ubiquinone oxidoreductase complex assembly factor 6

OMIM:618239

NCBI chr 8:94,895,799...95,118,496
Ensembl chr 8:94,895,533...95,116,455

nebulin

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

NFIX

nuclear factor I X

ClinVar Annotator: match by term: High, narrow palate

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

NIPBL

NIPBL cohesin loading factor

OMIM:122470

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

NONO

non-POU domain containing octamer binding

OMIM:300967 ORPHA:466791

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

NOTCH2NLC

notch 2 N-terminal like C

NCBI chr 1:149,390,621...149,471,833
Ensembl chr 1:149,390,621...149,471,833

notch receptor 3

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

NSD1

nuclear receptor binding SET domain protein 1

OMIM:117550

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

ORC1

origin recognition complex subunit 1

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

ORC4

origin recognition complex subunit 4

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

ORC6

origin recognition complex subunit 6

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

PCDHGC4

protocadherin gamma subfamily C, 4

OMIM:619880

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

PCLO

piccolo presynaptic cytomatrix protein

OMIM:608027

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

PEX1

peroxisomal biogenesis factor 1

OMIM:214100

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

PEX5

peroxisomal biogenesis factor 5

OMIM:202370

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

PIEZO2

piezo type mechanosensitive ion channel component 2

OMIM:248700

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

PIGT

phosphatidylinositol glycan anchor biosynthesis class T

ORPHA:369837

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

PLOD1

procollagen-lysine,2-oxoglutarate 5-dioxygenase 1

ORPHA:1900

NCBI chr 1:11,934,717...11,975,537
Ensembl chr 1:11,934,205...11,975,538

POR

cytochrome p450 oxidoreductase

ORPHA:95699

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

PRKG1

protein kinase cGMP-dependent 1

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

PTDSS1

phosphatidylserine synthase 1

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:79076

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

PTPN11

protein tyrosine phosphatase non-receptor type 11

OMIM:163950

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

RecQ like helicase 4

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

ret proto-oncogene

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

RILPL1

Rab interacting lysosomal protein like 1

NCBI chr12:123,470,054...123,533,719
Ensembl chr12:123,470,054...123,533,719

RNF113A

ring finger protein 113A

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

RUNX2

RUNX family transcription factor 2

OMIM:119600 ORPHA:1452

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

SCARF2

scavenger receptor class F member 2

OMIM:600920

NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826

SIN3A

SIN3 transcription regulator family member A

OMIM:613406

NCBI chr15:75,369,379...75,455,815
Ensembl chr15:75,369,379...75,455,842

SKI proto-oncogene

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

SLC25A12

solute carrier family 25 member 12

OMIM:612949

NCBI chr 2:171,783,405...171,894,244
Ensembl chr 2:171,783,405...171,999,859

SLC25A24

solute carrier family 25 member 24

OMIM:612289

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

SLC6A17

solute carrier family 6 member 17

ORPHA:457212

NCBI chr 1:110,150,494...110,202,202
Ensembl chr 1:110,150,494...110,202,202

SMAD family member 2

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

SMAD family member 3

NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173

SMAD family member 4

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

SMARCA2

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

OMIM:601358 ORPHA:3051

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

SMG9

SMG9 nonsense mediated mRNA decay factor

OMIM:616920

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

spermine synthase

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

SPEN

spen family transcriptional repressor

OMIM:619312

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

SPRED1

sprouty related EVH1 domain containing 1

OMIM:611431

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

SPRED2

sprouty related EVH1 domain containing 2

OMIM:619745

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

SPTBN1

spectrin beta, non-erythrocytic 1

OMIM:619475

NCBI chr 2:54,456,327...54,671,446
Ensembl chr 2:54,456,327...54,671,446

TAF1

TATA-box binding protein associated factor 1

OMIM:300966

NCBI chr X:71,366,357...71,530,525
Ensembl chr X:71,366,136...71,532,374

TAO kinase 1

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

TARS1

threonyl-tRNA synthetase 1

NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091

TBCK

TBC1 domain containing kinase

ORPHA:488632

NCBI chr 4:106,041,599...106,316,683
Ensembl chr 4:106,041,599...106,316,683

TBX1

T-box transcription factor 1

OMIM:188400

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

TCTN3

tectonic family member 3

ORPHA:2753

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

TGFB2

transforming growth factor beta 2

OMIM:614816 ORPHA:91387

NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619

TGFB3

transforming growth factor beta 3

NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011

TGFBR1

transforming growth factor beta receptor 1

NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192

TGFBR2

transforming growth factor beta receptor 2

NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249

THSD4

thrombospondin type 1 domain containing 4

NCBI chr15:71,096,894...71,783,383
Ensembl chr15:71,096,952...71,783,383

tropomyosin 3

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

UBE3B

ubiquitin protein ligase E3B

ORPHA:2707

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

UFC1

ubiquitin-fold modifier conjugating enzyme 1

OMIM:618076

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

VAC14

VAC14 component of PIKFYVE complex

ORPHA:3472

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

VPS13B

vacuolar protein sorting 13 homolog B

OMIM:216550 ORPHA:193

NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580

VPS35L

VPS35 endosomal protein sorting factor like

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

WASHC5

WASH complex subunit 5