Craniofacial cleft - Ontology Report

MIM:261540

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

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

MIM:619339

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

CILK1

ciliogenesis associated kinase 1

MIM:612651

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

distal-less homeobox 4

MIM:616788

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

FZD2

frizzled class receptor 2

MIM:164745

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

GLI family zinc finger 2

MIM:610829

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

interferon regulatory factor 6

ORPHA:199302

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

mediator complex subunit 12

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

msh homeobox 1

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

nectin cell adhesion molecule 1

ORPHA:199302

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

PLEKHA5

pleckstrin homology domain containing A5

ClinVar Annotator: match by term: Bilateral cleft lip

NCBI chr12:19,129,733...19,376,400
Ensembl chr12:19,129,669...19,376,400

patched 1

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

RAB5IF

RAB5 interacting factor

MIM:616994

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

R-spondin 2

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

SIX homeobox 3

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

SMPD4

sphingomyelin phosphodiesterase 4

MIM:618622

NCBI chr 2:130,151,392...130,181,757
Ensembl chr 2:130,151,392...130,182,750

SOX3

SRY-box transcription factor 3

ClinVar Annotator: match by term: Right and left cleft lip

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SPOP

speckle type BTB/POZ protein

MIM:618829

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

TMCO1

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft lip

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

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

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

Bilateral cleft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rho GTPase activating protein 29

NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068

Rho guanine nucleotide exchange factor 38

NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093

ASXL1

ASXL transcriptional regulator 1

MIM:605039

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

bone morphogenetic protein 4

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

CDH1

cadherin 1

ORPHA:199306 ORPHA:1997

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

CHUK

component of inhibitor of nuclear factor kappa B kinase complex

MIM:619339

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

cordon-bleu WH2 repeat protein like 1

NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679

catenin delta 1

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

discs large MAGUK scaffold protein 1

NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330

distal-less homeobox 4

MIM:616788 ORPHA:199306

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

GLI family zinc finger 2

MIM:610829

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

interferon regulatory factor 6

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

mediator complex subunit 12

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

msh homeobox 1

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

MYCN

MYCN proto-oncogene, bHLH transcription factor

ClinVar Annotator: match by term: Bilateral cleft palate

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

nectin cell adhesion molecule 1

ORPHA:199306 ORPHA:3253

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

platelet derived growth factor receptor alpha

NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245

patched 1

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

RIC1 homolog, RAB6A GEF complex partner 1

NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557

RPL26

ribosomal protein L26

MIM:614900

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

SIX homeobox 3

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

SLC26A2

solute carrier family 26 member 2

ORPHA:56304

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

SOX3

SRY-box transcription factor 3

ClinVar Annotator: match by term: Right and left cleft palate

PMID:23757202 PMID:25741868 PMID:28492532

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SPOP

speckle type BTB/POZ protein

MIM:618829

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

TMCO1

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Bilateral cleft palate

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

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

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

YAP1

Yes1 associated transcriptional regulator

ORPHA:1473

NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424

Cleft hard palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

AMMECR1

AMMECR nuclear protein 1

MIM:300990

NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

zinc finger E-box binding homeobox 2

ORPHA:261537 ORPHA:261552

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

Cleft maxillary alveolar ridge

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NUAK family kinase 2

NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745

PUF60

poly(U) binding splicing factor 60

ORPHA:508488

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

Cleft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACBD5

acyl-CoA binding domain containing 5

MIM:618863

NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046

ACBD6

acyl-CoA binding domain containing 6

MIM:620785

NCBI chr 1:180,269,653...180,502,577
Ensembl chr 1:180,269,653...180,502,954

actin beta

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

ACTG2

actin gamma 2, smooth muscle

ORPHA:2604

NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865

AHI1

Abelson helper integration site 1

ORPHA:220493

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

ALX1

ALX homeobox 1

MIM:613456 ORPHA:306542

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

ALX homeobox 3

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

ALX homeobox 4

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

AMER1

APC membrane recruitment protein 1

ClinVar Annotator: match by term: Cleft palate

MIM:300373 ORPHA:2780

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

ANKRD11

ankyrin repeat domain containing 11

ORPHA:2332

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

ANKRD17

ankyrin repeat domain 17

MIM:619504

NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798

anosmin 1

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

androgen receptor

ORPHA:95706

NCBI chr X:67,544,021...67,730,619
Ensembl chr X:67,544,021...67,730,619

archain 1

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

Rho GTPase activating protein 29

NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068

ARHGAP31

Rho GTPase activating protein 31

MIM:100300

NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714

Rho guanine nucleotide exchange factor 38

NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093

ARID1A

AT-rich interaction domain 1A

MIM: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

MIM:135900 ORPHA:251056

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

ARID2

AT-rich interaction domain 2

MIM:617808

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

ARNT2

aryl hydrocarbon receptor nuclear translocator 2

ORPHA:3157

NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933

ARVCF

ARVCF delta catenin family member

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

ARX

aristaless related homeobox

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

ASCC3

activating signal cointegrator 1 complex subunit 3

MIM:620700

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

ASXL1

ASXL transcriptional regulator 1

ORPHA:97297

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

atrophin 1

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

ATP6V1B2

ATPase H+ transporting V1 subunit B2

ORPHA:3473 ORPHA:79500

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

ATR

ATR serine/threonine kinase

MIM:210600

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

B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

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

B3GALT6

beta-1,3-galactosyltransferase 6

MIM:271640 MIM:615349

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

B3GAT3

beta-1,3-glucuronyltransferase 3

MIM:245600

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

B3GLCT

beta 3-glucosyltransferase

MIM:261540 ORPHA:709

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

B4GALT7

beta-1,4-galactosyltransferase 7

MIM:130070

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

B4GAT1

beta-1,4-glucuronyltransferase 1

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

B9D1

B9 domain containing 1

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

B9D2

B9 domain containing 2

MIM:614175 ORPHA:564

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

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

bone morphogenetic protein 4

MIM:600625 MIM:607932 ORPHA:199306 ORPHA:828

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

BMPER

BMP binding endothelial regulator

MIM:608022 ORPHA:66637

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

BPNT2

3'(2'), 5'-bisphosphate nucleotidase 2

MIM:614078

NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867

BRAF

B-Raf proto-oncogene, serine/threonine kinase

MIM:163950

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

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 chr13:32,315,077...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 DNA helicase 1

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

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

ORPHA:1052

NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063

BUB1B

BUB1 mitotic checkpoint serine/threonine kinase B

MIM:257300 ORPHA:1052

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

BUB3

BUB3 mitotic checkpoint protein

ORPHA:1052

NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467

C2CD3

C2 domain containing 3 centriole elongation regulator

MIM:615948 ORPHA:434179

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

CASK

calcium/calmodulin dependent serine protein kinase

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

CC2D2A

coiled-coil and C2 domain containing 2A

MIM:612284 ORPHA:564

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

CCDC141

coiled-coil domain containing 141

NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137

CCDC22

coiled-coil domain containing 22

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

CCDC32

coiled-coil domain containing 32

MIM:619123

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

CCN2

cellular communication network factor 2

MIM:211350

NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372

CD96 molecule

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

CDC45

cell division cycle 45

MIM:617063 ORPHA:2554

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

CDH1

cadherin 1

MIM:137215 ORPHA:199306

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

cadherin 11

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

CDKL5

cyclin dependent kinase like 5

NCBI chr X:18,425,608...18,653,629
Ensembl chr X:18,425,583...18,653,629

CDKN1C

cyclin dependent kinase inhibitor 1C

ORPHA:397590

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

CDON

cell adhesion associated, oncogene regulated

MIM:614226 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

CDT1

chromatin licensing and DNA replication factor 1

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

centromere protein F

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

CEP120

centrosomal protein 120

MIM:616300 ORPHA:220493

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

CEP152

centrosomal protein 152

MIM:613823

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

CEP290

centrosomal protein 290

MIM:610188 MIM:611134 ORPHA:564

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

CEP41

centrosomal protein 41

ORPHA:220493

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

CEP57

centrosomal protein 57

ORPHA:1052

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

CHD7

chromodomain helicase DNA binding protein 7

MIM:214800 MIM:612370 ORPHA:138 ORPHA:432 ORPHA:478

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

CHN1

chimerin 1

ClinVar Annotator: match by term: Cleft of palate

ORPHA:233

NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381

CHRNA1

cholinergic receptor nicotinic alpha 1 subunit

MIM:253290

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

CHRND

cholinergic receptor nicotinic delta subunit

MIM:253290

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

CHRNG

cholinergic receptor nicotinic gamma subunit

MIM:253290 MIM:265000 ORPHA:2990

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

CHST14

carbohydrate sulfotransferase 14

MIM:601776 ORPHA:2953

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

CHST3

carbohydrate sulfotransferase 3

MIM:245600

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

CHSY1

chondroitin sulfate synthase 1

MIM:605282

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

cordon-bleu WH2 repeat protein like 1

NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679

COG1

component of oligomeric golgi complex 1

MIM:611209

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

COL11A1

collagen type XI alpha 1 chain

MIM:154780 MIM:228520 MIM:604841 ORPHA:2021 ORPHA:440354 ORPHA:560 ORPHA:90654

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

COL11A2

collagen type XI alpha 2 chain

MIM:184840 MIM:215150 ORPHA:1427 ORPHA:166100 ORPHA:2021

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

COL2A1

collagen type II alpha 1 chain

MIM:108300 MIM:156550 MIM:183900 MIM:184250 MIM:200610 ORPHA:166100 ORPHA:1856 ORPHA:485 ORPHA:85166 ORPHA:90653 ORPHA:94068

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

COL4A1

collagen type IV alpha 1 chain

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202

COL9A1

collagen type IX alpha 1 chain

ORPHA:250984

NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084

COL9A2

collagen type IX alpha 2 chain

ORPHA:250984

NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813

COL9A3

collagen type IX alpha 3 chain

ORPHA:250984

NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159

COLEC10

collectin subfamily member 10

MIM:248340

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

COLEC11

collectin subfamily member 11

MIM:265050

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

COMT

catechol-O-methyltransferase

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

COX7B

cytochrome c oxidase subunit 7B

MIM:309801

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

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

MIM:277170 ORPHA:2754

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

CPLX1

complexin 1

MIM:194190 MIM:617976 ORPHA:280

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

CREBBP

CREB binding protein

MIM:180849 MIM:618332 ORPHA:592574

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

CRELD1

cysteine rich with EGF like domains 1

MIM:620771

NCBI chr 3:9,933,834...9,945,406
Ensembl chr 3:9,933,793...9,945,413

CRIPTO

cripto, EGF-CFC family member

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

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

CRPPA

CDP-L-ribitol pyrophosphorylase A

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

CSPP1

centrosome and spindle pole associated protein 1

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

CTBP1

C-terminal binding protein 1

MIM:194190 ORPHA:280

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

CTCF

CCCTC-binding factor

MIM:615502 ORPHA:363611

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

CYP26C1

cytochrome P450 family 26 subfamily C member 1

ORPHA:398189

NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540

dystroglycan 1

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

DCC

DCC netrin 1 receptor

NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899

DDX3X

DEAD-box helicase 3 X-linked

MIM:300958 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

DEAF1

DEAF1 transcription factor

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

DEF6

DEF6 guanine nucleotide exchange factor

MIM:619573

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

DGCR2

DiGeorge syndrome critical region gene 2

NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454

DGCR6

DiGeorge syndrome critical region gene 6

NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238

DGCR8

DGCR8 microprocessor complex subunit

NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877

DHCR24

24-dehydrocholesterol reductase

MIM:602398 ORPHA:35107

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

DHCR7

7-dehydrocholesterol reductase

MIM:270400 ORPHA:818

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

DHODH

dihydroorotate dehydrogenase (quinone)

MIM:263750 ORPHA:246

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

DISP1

dispatched RND transporter family member 1

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

discs large MAGUK scaffold protein 1

NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330

DLG5

discs large MAGUK scaffold protein 5

MIM:620703

NCBI chr10:77,790,791...77,940,736
Ensembl chr10:77,790,791...77,926,755

DLK1

delta like non-canonical Notch ligand 1

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

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

DLL3

delta like canonical Notch ligand 3

NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481

distal-less homeobox 4

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

DLX5

distal-less homeobox 5

MIM:183600

NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950

Dmx like 2

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

DNAH11

dynein axonemal heavy chain 11

ClinVar Annotator: match by term: Cleft of palate

PMID:24033266 PMID:25741868 PMID:28492532

NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839

docking protein 7

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

DONSON

DNA replication fork stabilization factor DONSON

MIM:251230

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

DPH1

diphthamide biosynthesis 1

ORPHA:459061

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

DPH2

diphthamide biosynthesis 2

ORPHA:459061

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

DPYSL5

dihydropyrimidinase like 5

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

DSE

dermatan sulfate epimerase

ORPHA:2953

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

desmoplakin

NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717

DUSP6

dual specificity phosphatase 6

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

dishevelled segment polarity protein 1

MIM:616331

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

DVL3

dishevelled segment polarity protein 3

MIM:616894

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

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

MIM:613091

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

EARS2

glutamyl-tRNA synthetase 2, mitochondrial

MIM:614924

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

EBF3

EBF transcription factor 3

ORPHA:96148

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

EBP

EBP cholestenol delta-isomerase

ORPHA:401973

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

ECEL1

endothelin converting enzyme like 1

MIM:615065

NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834

EDEM3

ER degradation enhancing alpha-mannosidase like protein 3

MIM:619493

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

endothelin 1

NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194

EDNRA

endothelin receptor type A

MIM:616367

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

ephrin B1

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

EFTUD2

elongation factor Tu GTP binding domain containing 2

MIM:610536 ORPHA:79113

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

EIF2S3

eukaryotic translation initiation factor 2 subunit gamma

MIM:300148

NCBI chr X:24,054,956...24,078,810
Ensembl chr X:24,054,946...24,078,810

EIF4A3

eukaryotic translation initiation factor 4A3

MIM:268305

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

EIF5A

eukaryotic translation initiation factor 5A

MIM:619376

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

EP300

E1A binding protein p300

MIM:180849

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

EPG5

ectopic P-granules 5 autophagy tethering factor

MIM:242840

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

ERCC5

ERCC excision repair 5, endonuclease

MIM:616570

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

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

MIM:268300 ORPHA:3103

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

ESS2

ess-2 splicing factor homolog

NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684

EYA1

EYA transcriptional coactivator and phosphatase 1

MIM:113650 ORPHA:107 ORPHA:52429

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

MIM:259775

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

FAM50A

family with sequence similarity 50 member A

MIM:300261

NCBI chr X:154,444,141...154,450,654
Ensembl chr X:154,444,141...154,450,654

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

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:25927356 PMID:28492532

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

FANCD2OS

FANCD2 opposite strand

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:25927356 PMID:28492532

NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255

FANCE

FA complementation group E

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

FANCF

FA complementation group F

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

FANCG

FA complementation group G

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

FANCI

FA complementation group I

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

FANCL

FA complementation group L

MIM:614083 ORPHA:84

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

FANCM

FA complementation group M

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

F-box protein 11

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

FEZF1

FEZ family zinc finger 1

NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691

FGD1

FYVE, RhoGEF and PH domain containing 1

MIM:305400 ORPHA:915

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

FGF17

fibroblast growth factor 17

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

FGF20

fibroblast growth factor 20

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

FGF8

fibroblast growth factor 8

ORPHA:220386 ORPHA:280200 ORPHA:432 ORPHA:478 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

FGF9

fibroblast growth factor 9

MIM:612961

NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498

FGFR1

fibroblast growth factor receptor 1

MIM:147950 MIM:615465 ORPHA:2117 ORPHA:220386 ORPHA:280200 ORPHA:3157 ORPHA:432 ORPHA:478 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

MIM:101200 MIM:101400 ORPHA:1555 ORPHA:794 ORPHA:87 ORPHA:93259 ORPHA:93260

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

FGFR3

fibroblast growth factor receptor 3

ORPHA:794

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

FGFRL1

fibroblast growth factor receptor like 1

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

FILIP1

filamin A interacting protein 1

MIM:620775

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

FKRP

fukutin related protein

MIM:236670 ORPHA:899

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

fukutin

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

FLII

FLII actin remodeling protein

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

FLNA

filamin A

ClinVar Annotator: match by term: Cleft palate

MIM:300244 MIM:304120 MIM:305620 MIM:309350 MIM:311300 ORPHA:1826 ORPHA:90650 ORPHA:90652

PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More...

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

FLNB

filamin B

MIM:108720 MIM:108721 MIM:150250 MIM:272460 ORPHA:1190 ORPHA:503

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

FLRT3

fibronectin leucine rich transmembrane protein 3

NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614

FLVCR2

FLVCR choline and putative heme transporter 2

MIM:225790

NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214

FOXC2

forkhead box C2

MIM:153400 ORPHA:33001

NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728

FOXE1

forkhead box E1

MIM:241850 ORPHA:1226

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

forkhead box F1

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

FOXH1

forkhead box H1

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

FRAS1

Fraser extracellular matrix complex subunit 1

MIM:219000

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

FTO

FTO alpha-ketoglutarate dependent dioxygenase

MIM:612938

NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512

FZD2

frizzled class receptor 2

MIM:164745

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

G6PC3

glucose-6-phosphatase catalytic subunit 3

MIM: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

MIM:301091

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

GAD1

glutamate decarboxylase 1

MIM:619124

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

GAS1

growth arrest specific 1

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

GATA3

GATA binding protein 3

ORPHA:2237

NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198

GDF3

growth differentiation factor 3

ORPHA:2345

NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775

GDF6

growth differentiation factor 6

MIM:118100 ORPHA:2345

NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806

GFRA1

GDNF family receptor alpha 1

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

GJA1

gap junction protein alpha 1

MIM:164200 ORPHA:2710

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

GJB2

gap junction protein beta 2

ORPHA:494

NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938

GLI family zinc finger 2

MIM:610829 MIM:615849 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

GLI3

GLI family zinc finger 3

MIM:146510 ORPHA:672 ORPHA:93322

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

GMNN

geminin DNA replication inhibitor

MIM:616835 ORPHA:2554

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

GMPPB

GDP-mannose pyrophosphorylase B

MIM:615350

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

GNAI3

G protein subunit alpha i3

MIM:602483 ORPHA:137888

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

GNAO1

G protein subunit alpha o1

NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444

GNB1

G protein subunit beta 1

ClinVar Annotator: match by term: Cleft palate

PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More...

MIM:616973 ORPHA:488613

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

GNRH1

gonadotropin releasing hormone 1

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

GNRHR

gonadotropin releasing hormone receptor

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

GP1BB

glycoprotein Ib platelet subunit beta

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

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

GREB1L

GREB1 like retinoic acid receptor coactivator

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

grainyhead like transcription factor 3

MIM:606713 ORPHA:888

NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482

GRIN1

glutamate ionotropic receptor NMDA type subunit 1

NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756

GRM7

glutamate metabotropic receptor 7

NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533

H4C5

H4 clustered histone 5

MIM:619950

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

HCCS

holocytochrome c synthase

MIM:309801

NCBI chr X:11,111,332...11,123,086
Ensembl chr X:11,111,301...11,123,086

HDAC8

histone deacetylase 8

MIM:300882 ORPHA:199

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

HDAC9

histone deacetylase 9

MIM:620457

NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416

HES7

hes family bHLH transcription factor 7

NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106

HESX homeobox 1

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

HIRA

histone cell cycle regulator

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

HMGA2

high mobility group AT-hook 2

ORPHA:397590

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

HNRNPK

heterogeneous nuclear ribonucleoprotein K

MIM:616580 ORPHA:352665 ORPHA:453504

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

homeobox A2

NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

HS6ST1

heparan sulfate 6-O-sulfotransferase 1

MIM:614880 ORPHA:432 ORPHA:478

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

HSPG2

heparan sulfate proteoglycan 2

ORPHA:1865 ORPHA:800

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

HYLS1 centriolar and ciliogenesis associated

MIM:236680 ORPHA:2189

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

IGBP1

immunoglobulin binding protein 1

ORPHA:52055

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

IGF2

insulin like growth factor 2

ORPHA:397590

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

IL17RD

interleukin 17 receptor D

NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306

INPP1

inositol polyphosphate-1-phosphatase

ClinVar Annotator: match by term: Cleft palate

NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665

INPP5E

inositol polyphosphate-5-phosphatase E

ClinVar Annotator: match by term: Cleft hard and soft palate

PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More...

ORPHA:220493

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

INPPL1

inositol polyphosphate phosphatase like 1

ORPHA:3144

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

INTS1

integrator complex subunit 1

MIM:618571

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

INTU

inturned planar cell polarity protein

MIM:617925

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

IQSEC2

IQ motif and Sec7 domain ArfGEF 2

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

interferon regulatory factor 6

ClinVar Annotator: match by term: Cleft of palate

PMID:12920575 PMID:25741868

MIM:119300 MIM:119500 MIM:608864 ORPHA:1300 ORPHA:199306 ORPHA:888

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

ITGA8

integrin subunit alpha 8

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

JARID2

jumonji and AT-rich interaction domain containing 2

MIM:620098

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

JMJD1C

jumonji domain containing 1C

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

junction plakoglobin

NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931

KANSL1

KAT8 regulatory NSL complex subunit 1

MIM:610443

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

KAT6A

lysine acetyltransferase 6A

MIM:616268 ORPHA:457193

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

KAT6B

lysine acetyltransferase 6B

MIM:603736

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

KATNIP

katanin interacting protein

MIM:616784

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

KCNA1

potassium voltage-gated channel subfamily A member 1

NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256

KCNH1

potassium voltage-gated channel subfamily H member 1

ORPHA:3473

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

KCNJ2

potassium inwardly rectifying channel subfamily J member 2

MIM:170390

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

KCNN3

potassium calcium-activated channel subfamily N member 3

ORPHA:3473

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

KDF1

keratinocyte differentiation factor 1

MIM:617337

NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468

KDM6A

lysine demethylase 6A

MIM:147920 MIM:300867 ORPHA:2322

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

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

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

KIF15

kinesin family member 15

MIM:619981

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

KIF1A

kinesin family member 1A

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293

KIF21A

kinesin family member 21A

ORPHA:994

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

KIF7

kinesin family member 7

MIM:200990 MIM:614120 ORPHA:2189 ORPHA:2754

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

KIFBP

kinesin family binding protein

ORPHA:66629

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

KISS1

KiSS-1 metastasis suppressor

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

KISS1 receptor

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

KLHL41

kelch like family member 41

MIM:615731

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

KMT2D

lysine methyltransferase 2D

MIM:147920 ORPHA:2322

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

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

MIM:236670 ORPHA:899

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

LARS2

leucyl-tRNA synthetase 2, mitochondrial

MIM:615300

NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726

LEMD3

LEM domain containing 3

ORPHA:166119

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

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

MIM:194190 ORPHA:280

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

LFNG

LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase

NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177

LMBRD1

LMBR1 domain containing 1

ORPHA:79284

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

LMX1B

LIM homeobox transcription factor 1 beta

MIM:161200

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

LOC129935252

ATAC-STARR-seq lymphoblastoid active region 16859

ClinVar Annotator: match by term: Cleft palate

NCBI chr 2:190,359,937...190,360,316

LRRC32

leucine rich repeat containing 32

ClinVar Annotator: match by term: Cleft of palate

PMID:30976112

MIM:619074

NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747

LZTR1

leucine zipper like post translational regulator 1

MIM:605275

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 1:11,657,230...11,691,811

MAF

MAF bZIP transcription factor

ORPHA:1272

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

MAFB

MAF bZIP transcription factor B

ORPHA:233

NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236

MAGEL2

MAGE family member L2

ORPHA:994

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

MAMLD1

mastermind like domain containing 1

ORPHA:95706

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

MAP2K1

mitogen-activated protein kinase kinase 1

MIM: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

MIM:617137 ORPHA:1826

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

MAPRE2

microtubule associated protein RP/EB family member 2

MIM:616734 ORPHA:2505

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

MASP1

MBL associated serine protease 1

MIM:257920

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

MBTPS2

membrane bound transcription factor peptidase, site 2

MIM:308205 ORPHA:85284

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

MCTP2

multiple C2 and transmembrane domain containing 2

ORPHA:1596

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

MECOM

MDS1 and EVI1 complex locus

MIM:616738

NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775

mediator complex subunit 12

MIM:305450 ORPHA:2728

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

MED25

mediator complex subunit 25

MIM:616449 ORPHA:464738

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

MEG3

maternally expressed 3

ORPHA:96184

NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,206...100,861,031

MEGF10

multiple EGF like domains 10

MIM:614399 MIM:620249

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

MEIS2

Meis homeobox 2

ClinVar Annotator: match by term: Cleft palate

MIM:600987 ORPHA:261190

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

MEOX1

mesenchyme homeobox 1

MIM:214300 ORPHA:2345

NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922

MESP2

mesoderm posterior bHLH transcription factor 2

NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754

MID1

midline 1

MIM:300000 ORPHA:2745

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

MKKS

MKKS centrosomal shuttling protein

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

MIM:249000 ORPHA:220493 ORPHA:564

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

MSX1

msh homeobox 1

MIM:608874 ORPHA:199306

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

MSX2

msh homeobox 2

MIM:168500 ORPHA:60015

NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896

MT-CYB

mitochondrially encoded cytochrome b

ORPHA:137675

NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887

MUSK

muscle associated receptor tyrosine kinase

MIM:208150 ORPHA:994

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

MYH3

myosin heavy chain 3

MIM:178110 MIM:618469 ORPHA:2990

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

MYL11

myosin light chain 11

MIM:619110

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

MYMK

myomaker, myoblast fusion factor

MIM: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...44,218,236

MYO15A

myosin XVA

ClinVar Annotator: match by term: Cleft of palate

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

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

MYO19

myosin XIX

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

NCBI chr17:36,495,636...36,544,815
Ensembl chr17:36,495,636...36,543,435

MYOD1

myogenic differentiation 1

MIM:618975 ORPHA:994

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

NAE1

NEDD8 activating enzyme E1 subunit 1

MIM:620210

NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256

nibrin

NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

NDNF

neuron derived neurotrophic factor

NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021

NDUFB11

NADH:ubiquinone oxidoreductase subunit B11

MIM:309801

NCBI chr X:47,142,216...47,145,491
Ensembl chr X:47,142,071...47,145,466

nebulin

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

nectin cell adhesion molecule 1

MIM:225060 ORPHA:199306

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

NEDD4L

NEDD4 like E3 ubiquitin protein ligase

MIM:617201

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

NIMA related kinase 1

MIM:252100 MIM:263520 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

ClinVar Annotator: match by term: Cleft palate

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

NELFA

negative elongation factor complex member A

ORPHA:280

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

NEUROD2

neuronal differentiation 2

NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777

neurofascin

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

nuclear factor I X

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

NHLH2

nescient helix-loop-helix 2

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

NIPBL

NIPBL cohesin loading factor

MIM: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

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

notch receptor 3

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

nephrocystin 1

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

NR4A2

nuclear receptor subfamily 4 group A member 2

ORPHA:1617

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

NSD1

nuclear receptor binding SET domain protein 1

ClinVar Annotator: match by term: Cleft of palate

PMID:12464997 PMID:14571271 PMID:15942875 PMID:16247291 PMID:18414213 More...

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

NSD2

nuclear receptor binding SET domain protein 2

MIM:194190 ORPHA:280

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

NSMF

NMDA receptor synaptonuclear signaling and neuronal migration factor

MIM:614838 ORPHA:432

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

NUP107

nucleoporin 107

MIM:616730 MIM:618348

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

nucleoporin 88

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

OFD1

OFD1 centriole and centriolar satellite protein

MIM:311200 ORPHA:2750 ORPHA:2754

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

ORC1

origin recognition complex subunit 1

MIM:224690 ORPHA:2554

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

ORC4

origin recognition complex subunit 4

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

OTX2

orthodenticle homeobox 2

MIM:610125 ORPHA:3157

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

PALB2

partner and localizer of BRCA2

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

paired box 3

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

phosphodiesterase 6D

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

platelet derived growth factor receptor alpha

NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245

PDZD8

PDZ domain containing 8

MIM:620021

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

PEX2

peroxisomal biogenesis factor 2

MIM:614866

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

PEX5

peroxisomal biogenesis factor 5

MIM:214110

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

PEX7

peroxisomal biogenesis factor 7

MIM:215100

NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934

PGAP2

post-GPI attachment to proteins 2

MIM:614207

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

PGAP3

post-GPI attachment to proteins phospholipase 3

ClinVar Annotator: match by term: Cleft of palate

PMID:25741868 PMID:30345601

MIM:615716

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

phosphoglucomutase 1

NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245

PHD finger protein 8

NCBI chr X:53,936,680...54,048,936
Ensembl chr X:53,936,676...54,048,958

PHGDH

phosphoglycerate dehydrogenase

MIM:256520

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

PIEZO2

piezo type mechanosensitive ion channel component 2

MIM:114300 MIM:248700 ORPHA:2461 ORPHA:376

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

PIGG

phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group)

ORPHA:280

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

PIGL

phosphatidylinositol glycan anchor biosynthesis class L

MIM:280000 ORPHA:3474

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

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

MIM:614080 ORPHA:2059

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

PIGO

phosphatidylinositol glycan anchor biosynthesis class O

MIM:614749

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

PIGP

phosphatidylinositol glycan anchor biosynthesis class P

NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170

PIGQ

phosphatidylinositol glycan anchor biosynthesis class Q

NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109

PIGV

phosphatidylinositol glycan anchor biosynthesis class V

MIM:239300

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

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:28492532

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

PLAG1 zinc finger

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

PLCB4

phospholipase C beta 4

MIM:614669 ORPHA:137888

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

PLCH1

phospholipase C eta 1

MIM:619895 ORPHA:93925

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

plexin D1

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

PNKP

polynucleotide kinase 3'-phosphatase

NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351

POGZ

pogo transposable element derived with ZNF domain

MIM:616364

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

POLR1A

RNA polymerase I subunit A

MIM:616462

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

POLR1B

RNA polymerase I subunit B

MIM:618939 ORPHA:861

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

POLR1C

RNA polymerase I and III subunit C

MIM:248390 ORPHA:861

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

POLR1D

RNA polymerase I and III subunit D

MIM:613717 ORPHA:861

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

POLR2A

RNA polymerase II subunit A

MIM:618603

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

POMGNT1

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

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

POMGNT2

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

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

POMK

protein O-mannose kinase

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

POMT1

protein O-mannosyltransferase 1

MIM:236670 ORPHA:899

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

POMT2

protein O-mannosyltransferase 2

MIM:236670 MIM:613150 ORPHA:899

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

PORCN

porcupine O-acyltransferase

MIM:305600

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

PPP3CA

protein phosphatase 3 catalytic subunit alpha

MIM:618265

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

PQBP1

polyglutamine binding protein 1

MIM:309500 ORPHA:93946

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

PR/SET domain 5

NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870

prokineticin 2

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

PROKR2

prokineticin receptor 2

MIM:244200 ORPHA:3157 ORPHA:432 ORPHA:478

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

PRRX1

paired related homeobox 1

MIM:202650

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

PSAT1

phosphoserine aminotransferase 1

MIM:616038

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

PTCH1

patched 1

MIM:109400 MIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

PTDSS1

phosphatidylserine synthase 1

MIM:151050 ORPHA:2658

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

PTPN11

protein tyrosine phosphatase non-receptor type 11

MIM:151100 MIM:163950

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

PUF60

poly(U) binding splicing factor 60

MIM:615583

NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709

RAB34

RAB34, member RAS oncogene family

MIM:620718

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

RAD21

RAD21 cohesin complex component

MIM:614701 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

RAI1

retinoic acid induced 1

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

RAPSN

receptor associated protein of the synapse

MIM:618388 ORPHA:994

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

RARB

retinoic acid receptor beta

MIM:615524

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

RB1

RB transcriptional corepressor 1

MIM:180200

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

RBM10

RNA binding motif protein 10

MIM:311900 ORPHA:2886

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

RBM8A

RNA binding motif protein 8A

MIM:274000 ORPHA:3320

NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678

RECQL4

RecQ like helicase 4

MIM:218600 MIM:266280 ORPHA:1225 ORPHA:221016

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

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

RIC1 homolog, RAB6A GEF complex partner 1

MIM:618761 ORPHA:199306

NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557

RIPK4

receptor interacting serine/threonine kinase 4

MIM:263650 ORPHA:1234 ORPHA:1401

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

RIPPLY2

ripply transcriptional repressor 2

NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515

RNU12

RNA, U12 small nuclear

MIM:603116 ORPHA:85199

NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393

RNU4ATAC

RNA, U4atac small nuclear

ORPHA:2636

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

RPGRIP1

RPGR interacting protein 1

NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301

RPGRIP1L

RPGRIP1 like

MIM:611561 ORPHA:220497 ORPHA:564, RGD:11073359

associated with Meckel Syndrome, Type 5;DNA:mutations:exons:

HPO
RGD

PMID:17558409

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

RPL11

ribosomal protein L11

MIM:612562

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

ribosomal protein L5

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

RPS19

ribosomal protein S19

MIM:105650

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

RPS26

ribosomal protein S26

MIM:613309

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

RPS28

ribosomal protein S28

MIM:606164

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

RREB1

ras responsive element binding protein 1

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

R-spondin 2

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

RTL1

retrotransposon Gag like 1

ORPHA:96184

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

RUNX2

RUNX family transcription factor 2

MIM:119600 ORPHA:1452

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

RXYLT1

ribitol xylosyltransferase 1

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

SALL4

spalt like transcription factor 4

ORPHA:233

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

SATB2

SATB homeobox 2

ClinVar Annotator: match by term: Cleft palate

MIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283

PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More...

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

SCARF2

scavenger receptor class F member 2

MIM:600920

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

SCN1B

sodium voltage-gated channel beta subunit 1

NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449

SCN2A

sodium voltage-gated channel alpha subunit 2

NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310

SCUBE3

signal peptide, CUB domain and EGF like domain containing 3

MIM:619184

NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079

SEC23A

SEC23 homolog A, COPII coat complex component

MIM:607812

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

SEC24C

SEC24 homolog C, COPII coat complex component

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

SELENOI

selenoprotein I

MIM:618768 ORPHA:506353

NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885

semaphorin 3A

NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724

semaphorin 3E

NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139

SEPTIN9

septin 9

MIM:162100 ORPHA:2901

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

SETD5

SET domain containing 5

ORPHA:404440

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

SF3B2

splicing factor 3b subunit 2

MIM:164210

NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308

SF3B4

splicing factor 3b subunit 4

MIM:154400 ORPHA:245

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

SH2B1

SH2B adaptor protein 1

ORPHA:261197

NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212

SHH

sonic hedgehog signaling molecule

MIM:142945 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

SIK1

salt inducible kinase 1

NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131

SIX1

SIX homeobox 1

MIM:113650 ORPHA:107 ORPHA:52429

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

SIX3

SIX homeobox 3

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

SIX homeobox 5

NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252

SLC10A7

solute carrier family 10 member 7

MIM:618363

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

SLC18A3

solute carrier family 18 member A3

ORPHA:994

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

SLC25A22

solute carrier family 25 member 22

NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281

SLC26A2

solute carrier family 26 member 2

MIM:222600 MIM:256050 ORPHA:56304 ORPHA:628 ORPHA:93307

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

SLC32A1

solute carrier family 32 member 1

NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372

SLC35B2

solute carrier family 35 member B2

MIM:620269

NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890

SLC35D1

solute carrier family 35 member D1

MIM:269250 ORPHA:3144

NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148

SLX4

SLX4 structure-specific endonuclease subunit

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

SMAD3

SMAD family member 3

MIM:613795 ORPHA:284984

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

SMAD4

SMAD family member 4

MIM:139210 ORPHA:2588

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

SMARCA4

SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4

ClinVar Annotator: match by term: Cleft palate

PMID:22426308 PMID:25741868 PMID:28973083 PMID:32686290 PMID:33461977 More...

MIM:614609

NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426

SMARCB1

SWI/SNF related BAF chromatin remodeling complex subunit B1

MIM:614608

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

SMC1A

structural maintenance of chromosomes 1A

MIM:301044 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

MIM:610759 ORPHA:199

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

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

MIM:603457 ORPHA:2250

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

SMO

smoothened, frizzled class receptor

MIM:241800

NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545

SMOC1

SPARC related modular calcium binding 1

MIM:206920 ORPHA:1106

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

SMS

spermine synthase

MIM:309583 ORPHA:3063

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

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

MIM:117650 ORPHA:1393

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

SON

SON DNA and RNA binding protein

ORPHA:500150

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

SOX10

SRY-box transcription factor 10

NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422

SOX2

SRY-box transcription factor 2

ORPHA:3157

NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436

SOX3

SRY-box transcription factor 3

ClinVar Annotator: match by term: Cleft of palate

PMID:23757202 PMID:25741868 PMID:28492532

ORPHA:3157

NCBI chr X:140,502,985...140,505,069
Ensembl chr X:140,502,985...140,505,069

SOX9

SRY-box transcription factor 9

MIM:114290 ORPHA:140 ORPHA:718

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

SPECC1L

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

MIM:600251

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

SPINT2

serine peptidase inhibitor, Kunitz type 2

MIM:270420

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

SPRY4

sprouty RTK signaling antagonist 4

NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455

STAC3

SH3 and cysteine rich domain 3

MIM:255995 ORPHA:168572

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

STAG2 cohesin complex component

MIM:301022 MIM:301043 ORPHA:220386 ORPHA:93925

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

STAM binding protein

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

STAT3

signal transducer and activator of transcription 3

ORPHA:2314

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

STIL

STIL centriolar assembly protein

ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

SUFU

SUFU negative regulator of hedgehog signaling

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

TAC3

tachykinin precursor 3

NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883

TACR3

tachykinin receptor 3

NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985

TAF6

TATA-box binding protein associated factor 6

ORPHA:199

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

TAPT1

transmembrane anterior posterior transformation 1

MIM:616897

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

TBC1D24

TBC1 domain family member 24

MIM:220500 ORPHA:79500

NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,671

TBR1

T-box brain transcription factor 1

ORPHA:1617

NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870

TBX1

T-box transcription factor 1

MIM:188400 MIM:192430 ORPHA:1727 ORPHA:567

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

TBX15

T-box transcription factor 15

MIM:260660

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

TBX2

T-box transcription factor 2

MIM:618223

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

TBX22

T-box transcription factor 22

MIM:302905 MIM:303400 ORPHA:921

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

TBX4

T-box transcription factor 4

MIM:147891

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

TBX6

T-box transcription factor 6

ORPHA:1797

NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924

TCOF1

treacle ribosome biogenesis factor 1

MIM:154500 ORPHA:861

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

TCTN1

tectonic family member 1

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

TCTN2

tectonic family member 2

MIM:613885 ORPHA:564

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

TCTN3

tectonic family member 3

MIM:258860 MIM:614815 ORPHA:2753 ORPHA:2754 ORPHA:564

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

TELO2

telomere maintenance 2

MIM:616954 ORPHA:488642

NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457

TENM4

teneurin transmembrane protein 4

ClinVar Annotator: match by term: Cleft palate

NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030

TFAP2A

transcription factor AP-2 alpha

MIM:113620

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

TFE3

transcription factor binding to IGHM enhancer 3

MIM:301066

NCBI chr X:49,028,726...49,043,357
Ensembl chr X:49,028,726...49,043,410

TGDS

TDP-glucose 4,6-dehydratase

MIM:616145 ORPHA:1388

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

TGFB3

transforming growth factor beta 3

MIM:615582

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

TGFBR1

transforming growth factor beta receptor 1

MIM:609192

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

MIM:610168

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

TGIF1

TGFB induced factor homeobox 1

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

TMCO1

transmembrane and coiled-coil domains 1

ClinVar Annotator: match by term: Cleft palate

PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227

MIM:213980 ORPHA:1394

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

TMEM107

transmembrane protein 107

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

TMEM216

transmembrane protein 216

MIM:603194 ORPHA:2754 ORPHA:564

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

TMEM231

transmembrane protein 231

ORPHA:2754 ORPHA:564

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

TMEM237

transmembrane protein 237

MIM:614424 ORPHA:220497 ORPHA:564

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

TMEM67

transmembrane protein 67

MIM:607361 ORPHA:564

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

TNFRSF13B

TNF receptor superfamily member 13B

ClinVar Annotator: match by term: Cleft palate

PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More...

NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118

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

TP63

tumor protein p63

MIM:106260 MIM:129400 MIM:603543 MIM:604292 ORPHA:1072 ORPHA:1896 ORPHA:199306 ORPHA:69085

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

TRAPPC2

trafficking protein particle complex subunit 2

ORPHA:93284

NCBI chr X:13,712,245...13,734,620
Ensembl chr X:13,712,244...13,734,635

TRIM8

tripartite motif containing 8

NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,662,789

TRIP13

thyroid hormone receptor interactor 13

MIM:617598 ORPHA:1052

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

TRPV4

transient receptor potential cation channel subfamily V member 4

ORPHA:2635

NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406

TRRAP

transformation/transcription domain associated protein

MIM:618454

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

TSR2

TSR2 ribosome maturation factor

MIM:300946

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

tubulin alpha 1a

NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324

TUBB

tubulin beta class I

MIM:156610 ORPHA:2505

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

TWIST1

twist family bHLH transcription factor 1

MIM:101400 ORPHA:794

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

TXNDC15

thioredoxin domain containing 15

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

thioredoxin like 4A

NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949

UBE2T

ubiquitin conjugating enzyme E2 T

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

UFD1

ubiquitin recognition factor in ER associated degradation 1

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

USP9X

ubiquitin specific peptidase 9 X-linked

MIM:300968 ORPHA:480880

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

VANGL1

VANGL planar cell polarity protein 1

ClinVar Annotator: match by term: Cleft of palate

NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224

VAX1

ventral anterior homeobox 1

MIM:614402

NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301

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

MIM:220210 ORPHA:7

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

WBP4

WW domain binding protein 4

MIM:620852

NCBI chr13:41,061,509...41,084,006
Ensembl chr13:41,061,509...41,084,006

WD repeat domain 11

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

WDR26

WD repeat domain 26

MIM:617616 ORPHA:513456

NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033

WDR35

WD repeat domain 35

MIM:613610 MIM:614091

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

WFS1

wolframin ER transmembrane glycoprotein

ClinVar Annotator: match by term: Cleft hard and soft palate

PMID:10521293 PMID:17568405 PMID:18700423 PMID:20888932 PMID:25741868 More...

NCBI chr 4:6,269,850...6,303,265
Ensembl chr 4:6,269,849...6,303,265

Wnt family member 3

NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154

WNT4

Wnt family member 4

MIM:611812 ORPHA:247768

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

Wnt family member 7A

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

Wnt family member 9B

NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730

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

XYLT1

xylosyltransferase 1

MIM:615777 ORPHA:370930

NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960

YAP1

Yes1 associated transcriptional regulator

MIM:120433

NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424

ZC4H2

zinc finger C4H2-type containing

MIM:301041

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

zinc finger E-box binding homeobox 2

MIM:235730 ORPHA:261537 ORPHA:261552

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

ZFX

zinc finger protein X-linked

MIM:301118

NCBI chr X:24,148,982...24,216,255
Ensembl chr X:24,149,173...24,216,255

ZIC2

Zic family member 2

ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926

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

ZNF469

zinc finger protein 469

ORPHA:90354

NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757

zinc finger SWIM-type containing 6

MIM:603671

NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172

Cleft soft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ADA2

adenosine deaminase 2

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

BUB1

BUB1 mitotic checkpoint serine/threonine kinase

MIM:620183

NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063

COL2A1

collagen type II alpha 1 chain

ORPHA:93316

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

DEAD-box helicase 59

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

dishevelled segment polarity protein 1

MIM:616331

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

DYRK1A

dual specificity tyrosine phosphorylation regulated kinase 1A

ORPHA:268261

NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358

FKBP14

FKBP prolyl isomerase 14

MIM:614557

NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702

GATA1

GATA binding protein 1

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

GNB2

G protein subunit beta 2

MIM:619503

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

grainyhead like transcription factor 3

ORPHA:99772

NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482

H4C5

H4 clustered histone 5

MIM:619950

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

HEATR3

HEAT repeat containing 3

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

importin 8

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

mediator complex subunit 12

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

msh homeobox 2

NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896

nucleoredoxin

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

PLOD2

procollagen-lysine,2-oxoglutarate 5-dioxygenase 2

ClinVar Annotator: match by term: Cleft soft palate

PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More...

NCBI chr 3:146,069,440...146,161,184
Ensembl chr 3:146,035,139...146,163,725

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

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

RPS20

ribosomal protein S20

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

RPS24

ribosomal protein S24

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

RPS26

ribosomal protein S26

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

RPS27

ribosomal protein S27

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

RPS28

ribosomal protein S28

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

RPS29

ribosomal protein S29

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

ribosomal protein S7

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

SCNM1

sodium channel modifier 1

MIM:620107

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

SF3B4

splicing factor 3b subunit 4

MIM:154400

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

SLC25A19

solute carrier family 25 member 19

ORPHA:99742

NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510

SMARCD1

SWI/SNF related BAF chromatin remodeling complex subunit D1

MIM:618779

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

SNRPB

small nuclear ribonucleoprotein polypeptides B and B1

MIM:117650

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

TAF4

TATA-box binding protein associated factor 4

MIM:620450

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

TBX5

T-box transcription factor 5

MIM:142900

NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442

TCOF1

treacle ribosome biogenesis factor 1

MIM:154500

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

TGFB3

transforming growth factor beta 3

MIM:615582

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

TSR2

TSR2 ribosome maturation factor

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

ubiquitin B

NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745

ZPR1 zinc finger

NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039

Median cleft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALX homeobox 3

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

ATP6V1E1

ATPase H+ transporting V1 subunit E1

MIM:617402

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

CILK1

ciliogenesis associated kinase 1

MIM:612651

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

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

EPG5

ectopic P-granules 5 autophagy tethering factor

MIM:242840

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

FAM20C

FAM20C golgi associated secretory pathway kinase

ORPHA:1832

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

forkhead box A2

NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455

FZD2

frizzled class receptor 2

ORPHA:3107

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

GLI family zinc finger 2

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

HESX homeobox 1

NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606

lamin B receptor

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

LIM homeobox 4

NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984

NUAK family kinase 2

NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745

OTX2

orthodenticle homeobox 2

NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693

PITX1

paired like homeodomain 1

MIM:119800

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

POU1F1

POU class 1 homeobox 1

NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584

PROP1

PROP paired-like homeobox 1

NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242

patched 1

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

SIX homeobox 3

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

SLC2A10

solute carrier family 2 member 10

ORPHA:3342

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

STAG2 cohesin complex component

MIM:301043

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

TGIF1

TGFB induced factor homeobox 1

MIM:142946

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

TWIST1

twist family bHLH transcription factor 1

MIM:617746

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

Wnt family member 5A

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

zinc finger SWIM-type containing 6

ORPHA:1827

NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172

Midline facial cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

zinc finger SWIM-type containing 6

MIM:603671

NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172

Non-midline cleft of the upper lip

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

DEAD-box helicase 59

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

DHODH

dihydroorotate dehydrogenase (quinone)

ORPHA:246

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

FGF20

fibroblast growth factor 20

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

FGFR1

fibroblast growth factor receptor 1

ORPHA:2117

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

GFRA1

GDNF family receptor alpha 1

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

GJA1

gap junction protein alpha 1

ORPHA:2710

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

GREB1L

GREB1 like retinoic acid receptor coactivator

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

homeobox D13

NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944

interferon regulatory factor 6

ORPHA:1300 ORPHA:199302

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

ITGA8

integrin subunit alpha 8

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

msh homeobox 1

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

nibrin

NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228

nectin cell adhesion molecule 1

ORPHA:199302

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

PIGN

phosphatidylinositol glycan anchor biosynthesis class N

ORPHA:2059

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

ret proto-oncogene

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

R-spondin 2

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

SF3B4

splicing factor 3b subunit 4

ORPHA:245

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

TBX4

T-box transcription factor 4

ORPHA:3301

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

TFAP2A

transcription factor AP-2 alpha

ORPHA:1297

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

TP63

tumor protein p63

ORPHA:1072 ORPHA:199302

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

Wnt family member 3

NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154

Wnt family member 9B

NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730

Orofacial cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ACTB

actin beta

MIM:243310 ORPHA:79107

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

actin gamma 1

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

AHI1

Abelson helper integration site 1

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

Rho GTPase activating protein 29

NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068

Rho guanine nucleotide exchange factor 38

NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093

ARF like GTPase 13B

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

ARF like GTPase 3

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

ARL6IP6

ARF like GTPase 6 interacting protein 6

ORPHA:1556

NCBI chr 2:152,717,648...152,762,396
Ensembl chr 2:152,717,647...152,762,396

ARMC9

armadillo repeat containing 9

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

axin 2

NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648

B9D1

B9 domain containing 1

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

B9D2

B9 domain containing 2

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

BCL6 corepressor

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

bone morphogenetic protein 4

ClinVar Annotator: match by term: Orofacial cleft
ClinVar Annotator: match by term: Oral cleft

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

CBY1

chibby 1, beta catenin antagonist

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

CC2D2A

coiled-coil and C2 domain containing 2A

ORPHA:1454

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

CCDC22

coiled-coil domain containing 22

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

CDH1

cadherin 1

ClinVar Annotator: match by term: Cleft lip/palate
ClinVar Annotator: match by term: Orofacial cleft

PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More...

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

CDON

cell adhesion associated, oncogene regulated

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

CEP104

centrosomal protein 104

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

CEP120

centrosomal protein 120

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

CEP41

centrosomal protein 41

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

CHRNG

cholinergic receptor nicotinic gamma subunit

ORPHA:2990

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

cordon-bleu WH2 repeat protein like 1

NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679

COLEC10

collectin subfamily member 10

ORPHA:293843

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

COLEC11

collectin subfamily member 11

ORPHA:293843

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

CPLANE1

ciliogenesis and planar polarity effector complex subunit 1

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

complexin 1

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

CRIPTO

cripto, EGF-CFC family member

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

CSPP1

centrosome and spindle pole associated protein 1

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

CTBP1

C-terminal binding protein 1

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

DDX3X

DEAD-box helicase 3 X-linked

ORPHA:457260

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

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

discs large MAGUK scaffold protein 1

NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330

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

distal-less homeobox 4

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

DPYSL5

dihydropyrimidinase like 5

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

dishevelled segment polarity protein 1

MIM:180700

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

ectodysplasin A

NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472

EDARADD

EDAR associated via death domain

NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915

ephrin B1

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

EMG1

EMG1 N1-specific pseudouridine methyltransferase

ORPHA:1270

NCBI chr12:6,970,913...6,997,428
Ensembl chr12:6,970,913...6,979,936

EPCAM

epithelial cell adhesion molecule

ORPHA:92050

NCBI chr 2:47,369,311...47,387,020
Ensembl chr 2:47,345,158...47,387,601

ESCO2

establishment of sister chromatid cohesion N-acetyltransferase 2

ORPHA:2319

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

FGD1

FYVE, RhoGEF and PH domain containing 1

ORPHA:915

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

FGF10

fibroblast growth factor 10

ORPHA:2363

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

FGF8

fibroblast growth factor 8

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

FGFR1

fibroblast growth factor receptor 1

ORPHA:280200 ORPHA:99798

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

FGFR2

fibroblast growth factor receptor 2

ORPHA:2363

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

FGFR3

fibroblast growth factor receptor 3

ORPHA:2363

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

FGFRL1

fibroblast growth factor receptor like 1

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

FLNA

filamin A

ClinVar Annotator: match by term: Oral cleft

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

forkhead box H1

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

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

FST

follistatin

ClinVar Annotator: match by term: Orofacial cleft

PMID:31215115

NCBI chr 5:53,480,629...53,487,134
Ensembl chr 5:53,480,626...53,487,134

FUZ

fuzzy planar cell polarity protein

ORPHA:3027

NCBI chr19:49,806,866...49,813,553
Ensembl chr19:49,806,866...49,817,376

GAS1

growth arrest specific 1

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

growth differentiation factor 11

ClinVar Annotator: match by term: Orofacial cleft

PMID:31215115

NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264

GLI family zinc finger 2

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

GNA11

G protein subunit alpha 11

ORPHA:1556

NCBI chr19:3,094,362...3,123,999
Ensembl chr19:3,094,362...3,123,999

GRIP1

glutamate receptor interacting protein 1

ORPHA:2052

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

GSTT1

glutathione S-transferase theta 1

susceptibility

DNA:deletion:cds:

RGD

PMID:11505167

RGD:12792210

HYLS1 centriolar and ciliogenesis associated

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

IFT172

intraflagellar transport 172

MIM:615630

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

IFT74

intraflagellar transport 74

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

IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

ORPHA:464

NCBI chr X:154,541,238...154,565,046
Ensembl chr X:154,541,199...154,565,046

INPP5E

inositol polyphosphate-5-phosphatase E

ORPHA:1454 ORPHA:220493 ORPHA:475

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

importin 8

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

interferon regulatory factor 6

ORPHA:199306 ORPHA:99798

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

KATNIP

katanin interacting protein

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

KDM6A

lysine demethylase 6A

ORPHA:2322

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

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

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

KMT2D

lysine methyltransferase 2D

ORPHA:2322

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

LETM1

leucine zipper and EF-hand containing transmembrane protein 1

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

LRP6

LDL receptor related protein 6

ClinVar Annotator: match by term: Orofacial cleft

PMID:22813217 PMID:23806086 PMID:26963285

NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044

MASP1

MBL associated serine protease 1

ORPHA:293843

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

MKS1

MKS transition zone complex subunit 1

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

MSX1

msh homeobox 1

ORPHA:199306 ORPHA:99798

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

myosin heavy chain 3

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

NAA10

N-alpha-acetyltransferase 10, NatA catalytic subunit

MIM:309800 ORPHA:568

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

NDST1

N-deacetylase and N-sulfotransferase 1

ClinVar Annotator: match by term: Cleft lip/palate

NCBI chr 5:150,497,779...150,558,211
Ensembl chr 5:150,485,818...150,558,211

nectin cell adhesion molecule 1

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

NIMA related kinase 1

DNA:nonsense, transition mutations:cds,splice junction:c.379C>T (p.R127X,)c.869-2A>G(human)

RGD

PMID:21211617

RGD:11069733

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

NODAL

nodal growth differentiation factor

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

nephrocystin 1

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

NSD2

nuclear receptor binding SET domain protein 2

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

nucleoporin 188

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

nucleoredoxin

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

OFD1

OFD1 centriole and centriolar satellite protein

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

paired box 3

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

paired box 9

NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362

phosphodiesterase 6D

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

platelet derived growth factor receptor alpha

NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245

PERCC1

proline and glutamate rich with coiled coil 1

ORPHA:92050

NCBI chr16:1,431,078...1,434,441
Ensembl chr16:1,431,078...1,434,441

PHD finger protein 6

NCBI chr X:134,373,312...134,428,790
Ensembl chr X:134,373,288...134,428,791

PHD finger protein 8

NCBI chr X:53,936,680...54,048,936
Ensembl chr X:53,936,676...54,048,958

PIBF1

progesterone immunomodulatory binding factor 1

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

PPP1R13L

protein phosphatase 1 regulatory subunit 13 like

ClinVar Annotator: match by term: Oral cleft

PMID:25741868 PMID:28069640 PMID:32666529

NCBI chr19:45,379,638...45,406,361
Ensembl chr19:45,379,638...45,406,349

PTCH1

patched 1

ORPHA:280200 ORPHA:377 ORPHA:77301

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

patched 2

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

RAI1

retinoic acid induced 1

MIM:182290

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

RIC1 homolog, RAB6A GEF complex partner 1

NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557

ROR2

receptor tyrosine kinase like orphan receptor 2

MIM:268310 ORPHA:1507

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

RPGRIP1L

RPGRIP1 like

ORPHA:1454 ORPHA:220497

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

R-spondin 2

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

SHH

sonic hedgehog signaling molecule

MIM:611638 ORPHA:280200

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

SIX homeobox 3

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

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

SPECC1L

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

ORPHA:1519

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

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

SUCLG1

succinate-CoA ligase GDP/ADP-forming subunit alpha

ORPHA:17

NCBI chr 2:84,423,528...84,459,280
Ensembl chr 2:84,423,528...84,460,045

SUFU

SUFU negative regulator of hedgehog signaling

ORPHA:280200 ORPHA:377 ORPHA:475

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

SUMO1

small ubiquitin like modifier 1

NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599

TBX22

T-box transcription factor 22

ClinVar Annotator: match by term: Oral cleft

NCBI chr X:80,014,753...80,031,774
Ensembl chr X:80,014,753...80,031,774

TBX4

T-box transcription factor 4

ORPHA:3301

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

TCTN1

tectonic family member 1

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

TCTN2

tectonic family member 2

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

TCTN3

tectonic family member 3

ORPHA:2753 ORPHA:475

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

TFAP2A

transcription factor AP-2 alpha

ORPHA:1297

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

TGFA

transforming growth factor alpha

NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193

TGFB2

transforming growth factor beta 2

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

TGIF1

TGFB induced factor homeobox 1

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

TMEM218

transmembrane protein 218

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

TMEM237

transmembrane protein 237

ORPHA:220497 ORPHA:475

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

TMEM67

transmembrane protein 67

ORPHA:1454 ORPHA:475

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

TOGARAM1

TOG array regulator of axonemal microtubules 1

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

TP63

tumor protein p63

MIM:103285 ORPHA:1896 ORPHA:199306

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

VANGL1

VANGL planar cell polarity protein 1

ORPHA:3027

NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224

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

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

WDPCP

WD repeat containing planar cell polarity effector

MIM:217085

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

WNT10A

Wnt family member 10A

NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581

WNT10B

Wnt family member 10B

NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735

Wnt family member 3

NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154

Wnt family member 4

NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969

Wnt family member 5A

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

ZIC2

Zic family member 2

MIM:609637 ORPHA:280200

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

Submucous cleft hard palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

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

AMMECR1

AMMECR nuclear protein 1

MIM:300990

NCBI chr X:110,194,186...110,440,233
Ensembl chr X:110,194,186...110,440,318

B3GALNT2

beta-1,3-N-acetylgalactosaminyltransferase 2

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

B4GAT1

beta-1,4-glucuronyltransferase 1

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

BCOR

BCL6 corepressor

MIM:300166 ORPHA:2712

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

BICRA

BRD4 interacting chromatin remodeling complex associated protein

MIM:619325

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

BRAF

B-Raf proto-oncogene, serine/threonine kinase

MIM:115150 ORPHA:1340

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

CARS1

cysteinyl-tRNA synthetase 1

MIM:618891

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

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

MIM:613805 ORPHA:2554

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

cadherin 11

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

CDT1

chromatin licensing and DNA replication factor 1

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

COL2A1

collagen type II alpha 1 chain

MIM:108300

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

COL4A1

collagen type IV alpha 1 chain

NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202

CRPPA

CDP-L-ribitol pyrophosphorylase A

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

cullin 3

NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397

dystroglycan 1

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

DGCR2

DiGeorge syndrome critical region gene 2

NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454

DGCR6

DiGeorge syndrome critical region gene 6

NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238

DGCR8

DGCR8 microprocessor complex subunit

NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877

DHCR24

24-dehydrocholesterol reductase

ORPHA:35107

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

ESS2

ess-2 splicing factor homolog

NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684

FKRP

fukutin related protein

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

fukutin

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

forkhead box P2

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

growth differentiation factor 11

MIM:619122

NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264

GMNN

geminin DNA replication inhibitor

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

GNPAT

glyceronephosphate O-acyltransferase

MIM:222765

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

HAAO

3-hydroxyanthranilate 3,4-dioxygenase

MIM:617660

NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593

HS2ST1

heparan sulfate 2-O-sulfotransferase 1

MIM:619194

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

hyaluronidase 1

NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381

HYLS1 centriolar and ciliogenesis associated

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

KAT5

lysine acetyltransferase 5

MIM:619103

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

KAT6B

lysine acetyltransferase 6B

ORPHA:3047

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

KIF7

kinesin family member 7

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

KRAS

KRAS proto-oncogene, GTPase

ORPHA:1340

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

LARGE1

LARGE xylosyl- and glucuronyltransferase 1

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

DNA ligase 4

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

lamin A/C

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

MAP2K1

mitogen-activated protein kinase kinase 1

ORPHA:1340

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

MAP2K2

mitogen-activated protein kinase kinase 2

ORPHA:1340

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

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

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

PIEZO2

piezo type mechanosensitive ion channel component 2

MIM:114300 ORPHA:2461

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

POMGNT1

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

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

POMGNT2

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

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

POMK

protein O-mannose kinase

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

POMT1

protein O-mannosyltransferase 1

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

POMT2

protein O-mannosyltransferase 2

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

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

PRKAR1B

protein kinase cAMP-dependent type I regulatory subunit beta

MIM:619680

NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650

proline rich 12

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

PTDSS1

phosphatidylserine synthase 1

ORPHA:2658

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

RAD21

RAD21 cohesin complex component

MIM:614701

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

RNU4ATAC

RNA, U4atac small nuclear

ORPHA:2636

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

RPS23

ribosomal protein S23

MIM:617412

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

RXYLT1

ribitol xylosyltransferase 1

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

SET

SET nuclear proto-oncogene

MIM:618106

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

SIAH1

siah E3 ubiquitin protein ligase 1

MIM:619314

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

SIX homeobox 3

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

SMAD family member 4

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

SMCHD1

structural maintenance of chromosomes flexible hinge domain containing 1

ORPHA:2250

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

SON

SON DNA and RNA binding protein

MIM:617140

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

SOX6

SRY-box transcription factor 6

MIM:618971

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

SOX9

SRY-box transcription factor 9

MIM:114290

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

STAG2 cohesin complex component

MIM:301043

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

TBX1

T-box transcription factor 1

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

WBP11

WW domain binding protein 11

MIM:619227

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

zinc finger E-box binding homeobox 2

MIM:235730

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

ZMPSTE24

zinc metallopeptidase STE24

MIM:275210 ORPHA:1662

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

Submucous cleft of soft and hard palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

STAG2 cohesin complex component

MIM:301022

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

zinc finger E-box binding homeobox 2

ORPHA:261537 ORPHA:261552

NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057

Submucous cleft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

forkhead box I3

NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693

grainyhead like transcription factor 3

ORPHA:155878

NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482

ubiquitin B

NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745

Submucous cleft soft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

grainyhead like transcription factor 3

ORPHA:99771

NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482

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

MIM:612292

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

NIMA related kinase 1

ORPHA:2751

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

NONO

non-POU domain containing octamer binding

MIM:300967

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

POLR3A

RNA polymerase III subunit A

ORPHA:3455

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

SON

SON DNA and RNA binding protein

ORPHA:500150

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

STAC3

SH3 and cysteine rich domain 3

ORPHA:168572

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

tumor protein p63

NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276

ubiquitin B

NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745

zinc finger SWIM-type containing 6

MIM:603671

NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172

Tessier cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALX1

ALX homeobox 1

MIM:613456 ORPHA:306542

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

COLEC10

collectin subfamily member 10

MIM:248340

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

DYNC2H1

dynein cytoplasmic 2 heavy chain 1

NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863

DYNC2I1

dynein 2 intermediate chain 1

NCBI chr 7:158,839,245...158,958,698
Ensembl chr 7:158,856,558...158,956,747

DYNC2I2

dynein 2 intermediate chain 2

NCBI chr 9:128,633,653...128,684,460
Ensembl chr 9:128,633,653...128,656,847

EVC

EvC ciliary complex subunit 1

ORPHA:952

NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305

EVC2

EvC ciliary complex subunit 2

ORPHA:952

NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548

FRAS1

Fraser extracellular matrix complex subunit 1

MIM:219000

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

IFT80

intraflagellar transport 80

NCBI chr 3:160,256,986...160,399,225
Ensembl chr 3:160,256,986...160,399,880

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...43,562,407
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

RIPK4

receptor interacting serine/threonine kinase 4

MIM:263650

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

SMARCE1

SWI/SNF related BAF chromatin remodeling complex subunit E1

ClinVar Annotator: match by term: Facial cleft

NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654

TCOF1

treacle ribosome biogenesis factor 1

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

WD repeat domain 35

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

Tessier number 13 facial cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

ALX homeobox 4

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

Tessier number 4 facial cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SPECC1L

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

MIM:600251

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

Transverse facial cleft

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

SF3B2

splicing factor 3b subunit 2

MIM:164210

NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308

Unilateral alveolar cleft of maxilla

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

NIMA related kinase 1

ORPHA:2751

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

Unilateral cleft lip

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

growth differentiation factor 11

MIM:619122

NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264

HYLS1 centriolar and ciliogenesis associated

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

KAT5

lysine acetyltransferase 5

MIM:619103

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

KIF7

kinesin family member 7

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

mediator complex subunit 12

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

midline 1

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

patched 1

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

SMAD family member 4

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

SUMO1

small ubiquitin like modifier 1

MIM:613705

NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599

TAPT1

transmembrane anterior posterior transformation 1

MIM:616897

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

Unilateral cleft palate

Symbol

Object Name

Qualifiers

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Rho GTPase activating protein 29

NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068

Rho guanine nucleotide exchange factor 38

NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093

ASXL1

ASXL transcriptional regulator 1

MIM:605039

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

bone morphogenetic protein 4

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

cadherin 1

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

cadherin 11

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

cordon-bleu WH2 repeat protein like 1

NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679

discs large MAGUK scaffold protein 1

NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330

distal-less homeobox 4

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

growth differentiation factor 11

MIM:619122

NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264

interferon regulatory factor 6

NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175

KAT5

lysine acetyltransferase 5

MIM:619103

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

mediator complex subunit 12

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

msh homeobox 1

NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936

nectin cell adhesion molecule 1

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

platelet derived growth factor receptor alpha

NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245

patched 1

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

RIC1 homolog, RAB6A GEF complex partner 1

NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557

SUMO1

small ubiquitin like modifier 1