Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.
Term:Cleft palate
go back to main search page
Accession:HP:0000175 term browser browse the term
Definition:Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Comment:Cleft palate is a developmental defect that occurs between the 7th and 12th week of pregnancy. Normally, the palatine processes fuse during this time to form the soft and hard palate. A failure of fusion results in a cleft palate. The clinical spectrum ranges from bifid uvula, to (incomplete or complete) cleft of the soft palate, up to (complete or incomplete) cleft of both the soft and hard palate.
Synonyms:exact_synonym: Cleft hard and soft palate;   Cleft of hard and soft palate;   Cleft of palate;   Cleft roof of mouth;   Palatoschisis;   Uranostaphyloschisis
 broad_synonym: Cleft secondary palate
 alt_id: HP:0410004
 xref: Fyler:4876;   MESH:D002972;   SNOMEDCT_US:63567004;   SNOMEDCT_US:87979003;   UMLS:C0008925;   UMLS:C2981150


show annotations for term's descendants           Sort by:
Cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACBD5 acyl-CoA binding domain containing 5 IAGP HPO OMIM:618863 NCBI chr10:27,182,838...27,242,111
Ensembl chr10:27,168,135...27,243,046 		JBrowse link
G ACTB actin beta IAGP HPO OMIM:607371 NCBI chr 7:5,527,148...5,530,601
Ensembl chr 7:5,526,409...5,563,902 		JBrowse link
G ACTG2 actin gamma 2, smooth muscle IAGP HPO ORPHA:2604 NCBI chr 2:73,893,008...73,919,865
Ensembl chr 2:73,892,314...73,919,865 		JBrowse link
G AHI1 Abelson helper integration site 1 IAGP HPO ORPHA:220493 NCBI chr 6:135,283,532...135,497,740
Ensembl chr 6:135,283,407...135,498,434 		JBrowse link
G ALX1 ALX homeobox 1 IAGP HPO OMIM:613456 ORPHA:306542 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784 		JBrowse link
G ALX3 ALX homeobox 3 IAGP HPO ORPHA:391474 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ALX4 ALX homeobox 4 IAGP HPO ORPHA:60015 NCBI chr11:44,260,440...44,310,139
Ensembl chr11:44,260,440...44,310,139 		JBrowse link
G AMER1 APC membrane recruitment protein 1 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar
HPO		 PMID:25741868 OMIM:300373 ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,630...89,490,561 		JBrowse link
G ANKRD17 ankyrin repeat domain 17 IAGP HPO OMIM:619504 NCBI chr 4:73,073,376...73,258,798
Ensembl chr 4:73,073,376...73,258,798 		JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137 		JBrowse link
G AR androgen receptor IAGP HPO ORPHA:95706 NCBI chr  X:67,544,021...67,730,619
Ensembl chr  X:67,544,021...67,730,619 		JBrowse link
G ARCN1 archain 1 IAGP HPO OMIM:617164 NCBI chr11:118,572,409...118,603,033
Ensembl chr11:118,572,390...118,603,033 		JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068 		JBrowse link
G ARHGAP31 Rho GTPase activating protein 31 IAGP HPO OMIM:100300 NCBI chr 3:119,294,383...119,420,714
Ensembl chr 3:119,294,383...119,420,714 		JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093 		JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP HPO OMIM:614607 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104 		JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP HPO OMIM:135900 ORPHA:251056 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779 		JBrowse link
G ARID2 AT-rich interaction domain 2 IAGP HPO OMIM:617808 NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040 		JBrowse link
G ARNT2 aryl hydrocarbon receptor nuclear translocator 2 IAGP HPO ORPHA:3157 NCBI chr15:80,404,382...80,597,933
Ensembl chr15:80,404,350...80,597,933 		JBrowse link
G ARVCF ARVCF delta catenin family member IAGP HPO ORPHA:567 NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823 		JBrowse link
G ARX aristaless related homeobox IAGP HPO ORPHA:1934 NCBI chr  X:25,003,694...25,015,965
Ensembl chr  X:25,003,694...25,016,420 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO ORPHA:97297 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G ATN1 atrophin 1 IAGP HPO OMIM:618494 NCBI chr12:6,924,459...6,942,321
Ensembl chr12:6,924,463...6,942,321 		JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 ORPHA:79500 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,226,819 		JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO OMIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP HPO OMIM:271640 OMIM:615349 NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G B3GAT3 beta-1,3-glucuronyltransferase 3 IAGP HPO OMIM:245600 NCBI chr11:62,615,296...62,621,986
Ensembl chr11:62,615,296...62,622,154 		JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO OMIM:261540 ORPHA:709 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276 		JBrowse link
G B4GALT7 beta-1,4-galactosyltransferase 7 IAGP HPO OMIM:130070 NCBI chr 5:177,600,132...177,610,330
Ensembl chr 5:177,600,132...177,610,330 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G B9D1 B9 domain containing 1 IAGP HPO ORPHA:564 NCBI chr17:19,334,695...19,377,913
Ensembl chr17:19,334,308...19,378,193 		JBrowse link
G B9D2 B9 domain containing 2 IAGP HPO OMIM:614175 ORPHA:564 NCBI chr19:41,354,417...41,364,149
Ensembl chr19:41,354,417...41,364,165 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BCR BCR activator of RhoGEF and GTPase IAGP HPO ORPHA:261330 NCBI chr22:23,180,509...23,318,037
Ensembl chr22:23,179,704...23,318,037 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO OMIM:600625 OMIM:607932 ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G BMPER BMP binding endothelial regulator IAGP HPO OMIM:608022 ORPHA:66637 NCBI chr 7:33,904,915...34,156,427
Ensembl chr 7:33,904,308...34,156,427 		JBrowse link
G BPNT2 3'(2'), 5'-bisphosphate nucleotidase 2 IAGP HPO OMIM:614078 NCBI chr 8:56,957,931...56,993,867
Ensembl chr 8:56,957,931...56,993,867 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:163950 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G BRCA1 BRCA1 DNA repair associated IAGP HPO ORPHA:84 NCBI chr17:43,044,295...43,170,327
Ensembl chr17:43,044,295...43,170,245 		JBrowse link
G BRCA2 BRCA2 DNA repair associated IAGP HPO ORPHA:84 NCBI chr13:32,315,508...32,400,268
Ensembl chr13:32,315,086...32,400,268 		JBrowse link
G BRD4 bromodomain containing 4 IAGP HPO ORPHA:199 NCBI chr19:15,235,519...15,332,539
Ensembl chr19:15,235,519...15,332,545 		JBrowse link
G BRIP1 BRCA1 interacting helicase 1 IAGP HPO ORPHA:84 NCBI chr17:61,679,139...61,863,528
Ensembl chr17:61,679,139...61,863,559 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO ORPHA:1052 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G BUB1B BUB1 mitotic checkpoint serine/threonine kinase B IAGP HPO OMIM:257300 ORPHA:1052 NCBI chr15:40,161,069...40,221,123
Ensembl chr15:40,161,023...40,221,123 		JBrowse link
G BUB3 BUB3 mitotic checkpoint protein IAGP HPO ORPHA:1052 NCBI chr10:123,154,402...123,170,467
Ensembl chr10:123,154,402...123,170,467 		JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO OMIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase IAGP HPO ORPHA:1934 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554 		JBrowse link
G CC2D2A coiled-coil and C2 domain containing 2A IAGP HPO OMIM:612284 ORPHA:564 NCBI chr 4:15,469,865...15,601,557
Ensembl chr 4:15,469,865...15,601,552 		JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137 		JBrowse link
G CCDC22 coiled-coil domain containing 22 IAGP HPO ORPHA:7 NCBI chr  X:49,235,470...49,250,520
Ensembl chr  X:49,235,470...49,250,520 		JBrowse link
G CCDC32 coiled-coil domain containing 32 IAGP HPO OMIM:619123 NCBI chr15:40,520,993...40,565,042
Ensembl chr15:40,528,683...40,565,054 		JBrowse link
G CD96 CD96 molecule IAGP HPO ORPHA:1308 NCBI chr 3:111,542,197...111,665,996
Ensembl chr 3:111,292,719...111,665,750 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO OMIM:617063 ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDH1 cadherin 1 IAGP HPO OMIM:137215 ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDH11 cadherin 11 IAGP HPO OMIM:619736 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDKL5 cyclin dependent kinase like 5 IAGP HPO ORPHA:1934 NCBI chr  X:18,425,608...18,653,629
Ensembl chr  X:18,425,583...18,653,629 		JBrowse link
G CDKN1C cyclin dependent kinase inhibitor 1C IAGP HPO ORPHA:397590 NCBI chr11:2,883,218...2,885,775
Ensembl chr11:2,883,213...2,885,775 		JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO OMIM: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 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G CENPF centromere protein F IAGP HPO OMIM:243605 NCBI chr 1:214,603,195...214,664,571
Ensembl chr 1:214,603,185...214,664,574 		JBrowse link
G CEP120 centrosomal protein 120 IAGP HPO OMIM:616300 ORPHA:220493 NCBI chr 5:123,344,892...123,423,842
Ensembl chr 5:123,344,890...123,423,592 		JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO OMIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146 		JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO OMIM:610188 OMIM:611134 ORPHA:564 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099 		JBrowse link
G CEP41 centrosomal protein 41 IAGP HPO ORPHA:220493 NCBI chr 7:130,393,771...130,441,741
Ensembl chr 7:130,393,771...130,442,433 		JBrowse link
G CEP57 centrosomal protein 57 IAGP HPO ORPHA:1052 NCBI chr11:95,790,498...95,832,693
Ensembl chr11:95,789,965...95,832,693 		JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO OMIM:214800 OMIM: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 		JBrowse link
G CHN1 chimerin 1 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 PMID:25741868 ORPHA:233 NCBI chr 2:174,798,809...175,005,381
Ensembl chr 2:174,798,809...175,005,381 		JBrowse link
G CHRNA1 cholinergic receptor nicotinic alpha 1 subunit IAGP HPO OMIM:253290 NCBI chr 2:174,747,592...174,764,472
Ensembl chr 2:174,747,592...174,787,935 		JBrowse link
G CHRND cholinergic receptor nicotinic delta subunit IAGP HPO OMIM:253290 NCBI chr 2:232,526,160...232,536,664
Ensembl chr 2:232,525,993...232,536,667 		JBrowse link
G CHRNG cholinergic receptor nicotinic gamma subunit IAGP HPO OMIM:253290 OMIM:265000 ORPHA:2990 NCBI chr 2:232,539,692...232,548,115
Ensembl chr 2:232,539,692...232,548,115 		JBrowse link
G CHST14 carbohydrate sulfotransferase 14 IAGP HPO OMIM:601776 ORPHA:2953 NCBI chr15:40,470,984...40,473,158
Ensembl chr15:40,470,984...40,473,158 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 IAGP HPO OMIM:245600 NCBI chr10:71,964,395...72,013,558
Ensembl chr10:71,964,395...72,013,558 		JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO OMIM:605282 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048 		JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679 		JBrowse link
G COG1 component of oligomeric golgi complex 1 IAGP HPO OMIM:611209 NCBI chr17:73,193,055...73,208,507
Ensembl chr17:73,193,055...73,208,507 		JBrowse link
G COL11A1 collagen type XI alpha 1 chain IAGP HPO OMIM:154780 OMIM:228520 OMIM: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 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP HPO OMIM:184840 OMIM: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 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 OMIM:156550 OMIM:183900 OMIM:184250 OMIM: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 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G COL9A1 collagen type IX alpha 1 chain IAGP HPO ORPHA:250984 NCBI chr 6:70,215,061...70,303,084
Ensembl chr 6:70,216,040...70,303,084 		JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO ORPHA:250984 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813 		JBrowse link
G COL9A3 collagen type IX alpha 3 chain IAGP HPO ORPHA:250984 NCBI chr20:62,816,213...62,841,159
Ensembl chr20:62,816,244...62,841,159 		JBrowse link
G COLEC10 collectin subfamily member 10 IAGP HPO OMIM:248340 NCBI chr 8:118,952,263...119,108,455
Ensembl chr 8:118,995,452...119,108,455 		JBrowse link
G COLEC11 collectin subfamily member 11 IAGP HPO OMIM:265050 NCBI chr 2:3,595,112...3,644,644
Ensembl chr 2:3,594,832...3,644,644 		JBrowse link
G COMT catechol-O-methyltransferase IAGP HPO ORPHA:567 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975 		JBrowse link
G COX7B cytochrome c oxidase subunit 7B IAGP HPO OMIM:309801 NCBI chr  X:77,899,468...77,907,376
Ensembl chr  X:77,899,440...77,907,376 		JBrowse link
G CPLANE1 ciliogenesis and planar polarity effector complex subunit 1 IAGP HPO OMIM:277170 ORPHA:2754 NCBI chr 5:37,075,669...37,249,376
Ensembl chr 5:37,106,228...37,249,376 		JBrowse link
G CPLX1 complexin 1 IAGP HPO OMIM:194190 OMIM:617976 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129 		JBrowse link
G CREBBP CREB binding protein IAGP HPO OMIM:180849 OMIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713 		JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO 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 		JBrowse link
G CRKL CRK like proto-oncogene, adaptor protein IAGP HPO ORPHA:261330 NCBI chr22:20,917,407...20,953,747
Ensembl chr22:20,917,407...20,953,747 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CSPP1 centrosome and spindle pole associated protein 1 IAGP HPO ORPHA:564 NCBI chr 8:67,064,368...67,196,614
Ensembl chr 8:67,062,417...67,196,778 		JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO OMIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333 		JBrowse link
G CTCF CCCTC-binding factor IAGP HPO OMIM:615502 ORPHA:363611 NCBI chr16:67,562,526...67,639,185
Ensembl chr16:67,562,467...67,639,177 		JBrowse link
G CYP26C1 cytochrome P450 family 26 subfamily C member 1 IAGP HPO ORPHA:398189 NCBI chr10:93,060,798...93,069,540
Ensembl chr10:93,060,798...93,069,540 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899 		JBrowse link
G DDX3X DEAD-box helicase 3 X-linked IAGP HPO OMIM:300958 ORPHA:3338 NCBI chr  X:41,333,308...41,364,472
Ensembl chr  X:41,333,348...41,364,472 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO OMIM:174300 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DEAF1 DEAF1 transcription factor IAGP HPO ORPHA:819 NCBI chr11:644,220...707,083
Ensembl chr11:644,233...707,118 		JBrowse link
G DEF6 DEF6 guanine nucleotide exchange factor IAGP HPO OMIM:619573 NCBI chr 6:35,297,818...35,321,771
Ensembl chr 6:35,297,818...35,321,771 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO OMIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO OMIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO OMIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO OMIM:602398 ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO OMIM:270400 ORPHA:818 NCBI chr11:71,434,411...71,448,393
Ensembl chr11:71,428,193...71,452,868 		JBrowse link
G DHODH dihydroorotate dehydrogenase (quinone) IAGP HPO OMIM:263750 ORPHA:246 NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664 		JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO 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 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G DLK1 delta like non-canonical Notch ligand 1 IAGP HPO ORPHA:96184 NCBI chr14:100,726,892...100,738,224
Ensembl chr14:100,725,705...100,738,224 		JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO 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 		JBrowse link
G DLL3 delta like canonical Notch ligand 3 IAGP HPO ORPHA:2311 NCBI chr19:39,498,947...39,508,469
Ensembl chr19:39,498,895...39,508,481 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		JBrowse link
G DLX5 distal-less homeobox 5 IAGP HPO OMIM:183600 NCBI chr 7:97,020,396...97,024,831
Ensembl chr 7:97,020,396...97,024,950 		JBrowse link
G DMXL2 Dmx like 2 IAGP HPO ORPHA:1934 NCBI chr15:51,447,791...51,622,771
Ensembl chr15:51,447,711...51,622,833 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839 		JBrowse link
G DOK7 docking protein 7 IAGP HPO ORPHA:994 NCBI chr 4:3,463,306...3,501,482
Ensembl chr 4:3,463,306...3,501,473 		JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP HPO OMIM:251230 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706 		JBrowse link
G DPH1 diphthamide biosynthesis 1 IAGP HPO ORPHA:459061 NCBI chr17:2,030,112...2,043,898
Ensembl chr17:2,030,137...2,043,898 		JBrowse link
G DPH2 diphthamide biosynthesis 2 IAGP HPO ORPHA:459061 NCBI chr 1:43,970,010...43,973,369
Ensembl chr 1:43,970,000...43,973,369 		JBrowse link
G DPYSL5 dihydropyrimidinase like 5 IAGP HPO ORPHA:7 NCBI chr 2:26,847,995...26,950,351
Ensembl chr 2:26,847,747...26,950,351 		JBrowse link
G DSE dermatan sulfate epimerase IAGP HPO ORPHA:2953 NCBI chr 6:116,254,171...116,444,861
Ensembl chr 6:116,254,173...116,444,861 		JBrowse link
G DSP desmoplakin IAGP HPO ORPHA:158687 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717 		JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO OMIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP HPO OMIM:613091 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863 		JBrowse link
G EARS2 glutamyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:614924 NCBI chr16:23,520,754...23,557,375
Ensembl chr16:23,520,754...23,557,731 		JBrowse link
G EBP EBP cholestenol delta-isomerase IAGP HPO ORPHA:401973 NCBI chr  X:48,521,808...48,528,716
Ensembl chr  X:48,521,799...48,528,716 		JBrowse link
G ECEL1 endothelin converting enzyme like 1 IAGP HPO OMIM:615065 NCBI chr 2:232,479,827...232,487,834
Ensembl chr 2:232,479,827...232,487,834 		JBrowse link
G EDEM3 ER degradation enhancing alpha-mannosidase like protein 3 IAGP HPO OMIM:619493 NCBI chr 1:184,690,237...184,754,858
Ensembl chr 1:184,690,237...184,754,907 		JBrowse link
G EDN1 endothelin 1 IAGP HPO ORPHA:137888 NCBI chr 6:12,230,516...12,297,194
Ensembl chr 6:12,290,361...12,297,194 		JBrowse link
G EDNRA endothelin receptor type A IAGP HPO OMIM:616367 NCBI chr 4:147,481,097...147,544,954
Ensembl chr 4:147,480,917...147,544,954 		JBrowse link
G EFNB1 ephrin B1 IAGP HPO OMIM:304110 NCBI chr  X:68,829,021...68,842,160
Ensembl chr  X:68,829,021...68,842,160 		JBrowse link
G EFTUD2 elongation factor Tu GTP binding domain containing 2 IAGP HPO OMIM:610536 ORPHA:79113 NCBI chr17:44,849,948...44,899,445
Ensembl chr17:44,849,948...44,899,445 		JBrowse link
G EIF2S3 eukaryotic translation initiation factor 2 subunit gamma IAGP HPO OMIM:300148 NCBI chr  X:24,054,956...24,078,810
Ensembl chr  X:24,054,946...24,078,810 		JBrowse link
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO OMIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP HPO OMIM:619376 NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463 		JBrowse link
G EP300 E1A binding protein p300 IAGP HPO OMIM:180849 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO OMIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:84 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348 		JBrowse link
G ERCC5 ERCC excision repair 5, endonuclease IAGP HPO OMIM:616570 NCBI chr13:102,846,032...102,875,995
Ensembl chr13:102,845,831...102,875,995 		JBrowse link
G ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2 IAGP HPO OMIM:268300 ORPHA:3103 NCBI chr 8:27,771,974...27,819,660
Ensembl chr 8:27,771,949...27,812,640 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO OMIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G EYA1 EYA transcriptional coactivator and phosphatase 1 IAGP HPO OMIM:113650 ORPHA:107 ORPHA:52429 NCBI chr 8:71,197,433...71,548,094
Ensembl chr 8:71,197,433...71,592,025 		JBrowse link
G FAM149B1 family with sequence similarity 149 member B1 IAGP HPO ORPHA:2754 NCBI chr10:73,168,119...73,244,504
Ensembl chr10:73,168,119...73,244,504 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO OMIM:259775 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FAM50A family with sequence similarity 50 member A IAGP HPO OMIM:300261 NCBI chr  X:154,444,141...154,450,654
Ensembl chr  X:154,444,141...154,450,654 		JBrowse link
G FANCA FA complementation group A IAGP HPO ORPHA:84 NCBI chr16:89,737,549...89,816,647
Ensembl chr16:89,726,683...89,816,977 		JBrowse link
G FANCB FA complementation group B IAGP HPO ORPHA:84 NCBI chr  X:14,689,524...14,873,069
Ensembl chr  X:14,690,388...14,873,255 		JBrowse link
G FANCC FA complementation group C IAGP HPO ORPHA:84 NCBI chr 9:95,099,054...95,317,709
Ensembl chr 9:95,099,054...95,426,796 		JBrowse link
G FANCD2 FA complementation group D2 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar
HPO		 PMID:25741868 PMID:25927356 PMID:28492532 ORPHA:84 NCBI chr 3:10,026,437...10,101,932
Ensembl chr 3:10,026,370...10,101,932 		JBrowse link
G FANCD2OS FANCD2 opposite strand IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:25927356 PMID:28492532 NCBI chr 3:10,081,320...10,108,457
Ensembl chr 3:10,081,317...10,108,255 		JBrowse link
G FANCE FA complementation group E IAGP HPO ORPHA:84 NCBI chr 6:35,452,338...35,467,102
Ensembl chr 6:35,452,338...35,467,104 		JBrowse link
G FANCF FA complementation group F IAGP HPO ORPHA:84 NCBI chr11:22,622,533...22,625,823
Ensembl chr11:22,622,533...22,625,823 		JBrowse link
G FANCG FA complementation group G IAGP HPO ORPHA:84 NCBI chr 9:35,073,839...35,079,942
Ensembl chr 9:35,073,835...35,080,004 		JBrowse link
G FANCI FA complementation group I IAGP HPO ORPHA:84 NCBI chr15:89,243,979...89,317,259
Ensembl chr15:89,243,945...89,317,261 		JBrowse link
G FANCL FA complementation group L IAGP HPO OMIM:614083 ORPHA:84 NCBI chr 2:58,159,243...58,241,380
Ensembl chr 2:58,159,243...58,241,410 		JBrowse link
G FANCM FA complementation group M IAGP HPO ORPHA:84 NCBI chr14:45,135,930...45,200,890
Ensembl chr14:45,135,930...45,200,890 		JBrowse link
G FBXO11 F-box protein 11 IAGP HPO OMIM:618089 NCBI chr 2:47,806,920...47,906,498
Ensembl chr 2:47,789,316...47,906,498 		JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691 		JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO OMIM:305400 ORPHA:915 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234 		JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809 		JBrowse link
G FGF20 fibroblast growth factor 20 IAGP HPO ORPHA:1848 NCBI chr 8:16,992,181...17,002,345
Ensembl chr 8:16,992,181...17,002,345 		JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO 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 		JBrowse link
G FGF9 fibroblast growth factor 9 IAGP HPO OMIM:612961 NCBI chr13:21,671,073...21,704,498
Ensembl chr13:21,671,073...21,704,498 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO OMIM:147950 OMIM: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 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO OMIM:101200 OMIM: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 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO ORPHA:794 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO OMIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898 		JBrowse link
G FKRP fukutin related protein IAGP HPO OMIM:236670 ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO OMIM:236670 ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FLII FLII actin remodeling protein IAGP HPO ORPHA:819 NCBI chr17:18,244,815...18,259,022
Ensembl chr17:18,244,815...18,258,738 		JBrowse link
G FLNA filamin A IAGP ClinVar Annotator: match by term: Cleft hard and soft palate HPO
ClinVar		 PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... OMIM:300244 OMIM:304120 OMIM:305620 OMIM:309350 OMIM:311300 ORPHA:1826 ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634 		JBrowse link
G FLNB filamin B IAGP HPO OMIM:108720 OMIM:108721 OMIM:150250 OMIM:272460 ORPHA:1190 ORPHA:503 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251 		JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614 		JBrowse link
G FLVCR2 FLVCR choline and putative heme transporter 2 IAGP HPO OMIM:225790 NCBI chr14:75,578,620...75,648,167
Ensembl chr14:75,578,620...75,663,214 		JBrowse link
G FOXC2 forkhead box C2 IAGP HPO OMIM:153400 ORPHA:33001 NCBI chr16:86,566,829...86,569,728
Ensembl chr16:86,566,829...86,569,728 		JBrowse link
G FOXE1 forkhead box E1 IAGP HPO OMIM:241850 ORPHA:1226 NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717 		JBrowse link
G FOXF1 forkhead box F1 IAGP HPO OMIM:265380 NCBI chr16:86,510,527...86,515,422
Ensembl chr16:86,510,527...86,515,422 		JBrowse link
G FOXH1 forkhead box H1 IAGP HPO 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 		JBrowse link
G FRAS1 Fraser extracellular matrix complex subunit 1 IAGP HPO OMIM:219000 NCBI chr 4:78,057,323...78,544,269
Ensembl chr 4:78,057,323...78,544,269 		JBrowse link
G FTO FTO alpha-ketoglutarate dependent dioxygenase IAGP HPO OMIM:612938 NCBI chr16:53,703,963...54,121,941
Ensembl chr16:53,701,692...54,158,512 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO OMIM:164745 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G G6PC3 glucose-6-phosphatase catalytic subunit 3 IAGP HPO OMIM:612541 NCBI chr17:44,070,673...44,076,344
Ensembl chr17:44,070,620...44,082,151 		JBrowse link
G GABRA3 gamma-aminobutyric acid type A receptor subunit alpha3 IAGP HPO OMIM:301091 NCBI chr  X:152,166,234...152,451,315
Ensembl chr  X:152,166,234...152,451,315 		JBrowse link
G GAD1 glutamate decarboxylase 1 IAGP HPO OMIM:619124 NCBI chr 2:170,813,210...170,861,151
Ensembl chr 2:170,813,213...170,861,151 		JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO 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 		JBrowse link
G GATA3 GATA binding protein 3 IAGP HPO ORPHA:2237 NCBI chr10:8,045,333...8,075,198
Ensembl chr10:8,045,378...8,075,198 		JBrowse link
G GDF3 growth differentiation factor 3 IAGP HPO ORPHA:2345 NCBI chr12:7,689,784...7,695,775
Ensembl chr12:7,689,784...7,695,775 		JBrowse link
G GDF6 growth differentiation factor 6 IAGP HPO OMIM:118100 ORPHA:2345 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806 		JBrowse link
G GFRA1 GDNF family receptor alpha 1 IAGP HPO ORPHA:1848 NCBI chr10:116,056,925...116,274,705
Ensembl chr10:116,056,925...116,276,803 		JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO OMIM:164200 ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727 		JBrowse link
G GJB2 gap junction protein beta 2 IAGP HPO ORPHA:494 NCBI chr13:20,187,470...20,192,938
Ensembl chr13:20,187,463...20,192,938 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 OMIM: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 		JBrowse link
G GLI3 GLI family zinc finger 3 IAGP HPO OMIM:146510 ORPHA:672 ORPHA:93322 NCBI chr 7:41,960,949...42,264,268
Ensembl chr 7:41,960,949...42,264,100 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO OMIM:616835 ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP HPO OMIM:615350 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI3 G protein subunit alpha i3 IAGP HPO OMIM:602483 ORPHA:137888 NCBI chr 1:109,548,615...109,600,195
Ensembl chr 1:109,548,615...109,600,195 		JBrowse link
G GNAO1 G protein subunit alpha o1 IAGP HPO ORPHA:1934 NCBI chr16:56,191,489...56,357,444
Ensembl chr16:56,189,660...56,357,444 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... OMIM:616973 ORPHA:488613 NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G GNRH1 gonadotropin releasing hormone 1 IAGP HPO ORPHA:432 NCBI chr 8:25,419,258...25,425,040
Ensembl chr 8:25,419,258...25,424,654 		JBrowse link
G GNRHR gonadotropin releasing hormone receptor IAGP HPO ORPHA:432 NCBI chr 4:67,737,118...67,754,388
Ensembl chr 4:67,737,118...67,754,388 		JBrowse link
G GP1BB glycoprotein Ib platelet subunit beta IAGP HPO ORPHA:567 NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771 		JBrowse link
G GPC3 glypican 3 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,535,745...133,985,594
Ensembl chr  X:133,535,745...133,987,100 		JBrowse link
G GPC4 glypican 4 IAGP HPO OMIM:312870 ORPHA:373 NCBI chr  X:133,300,103...133,415,489
Ensembl chr  X:133,300,103...133,415,489 		JBrowse link
G GREB1L GREB1 like retinoic acid receptor coactivator IAGP HPO ORPHA:1848 NCBI chr18:21,242,232...21,526,112
Ensembl chr18:21,242,232...21,526,112 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO OMIM:606713 ORPHA:888 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G GRIN1 glutamate ionotropic receptor NMDA type subunit 1 IAGP HPO ORPHA:1934 NCBI chr 9:137,139,154...137,168,756
Ensembl chr 9:137,138,346...137,168,756 		JBrowse link
G GRM7 glutamate metabotropic receptor 7 IAGP HPO ORPHA:1934 NCBI chr 3:6,861,115...7,741,533
Ensembl chr 3:6,770,001...7,741,533 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HCCS holocytochrome c synthase IAGP HPO OMIM:309801 NCBI chr  X:11,111,332...11,123,086
Ensembl chr  X:11,111,301...11,123,086 		JBrowse link
G HDAC8 histone deacetylase 8 IAGP HPO OMIM:300882 ORPHA:199 NCBI chr  X:72,329,516...72,572,843
Ensembl chr  X:72,329,516...72,573,101 		JBrowse link
G HDAC9 histone deacetylase 9 IAGP HPO OMIM:620457 NCBI chr 7:18,086,825...19,002,416
Ensembl chr 7:18,086,949...19,002,416 		JBrowse link
G HES7 hes family bHLH transcription factor 7 IAGP HPO ORPHA:2311 NCBI chr17:8,120,592...8,126,634
Ensembl chr17:8,120,592...8,124,106 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:3157 ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G HIRA histone cell cycle regulator IAGP HPO ORPHA:567 NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450 		JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:397590 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO OMIM:616580 ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631 		JBrowse link
G HOXA2 homeobox A2 IAGP HPO OMIM:612290 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686 		JBrowse link
G HOXD13 homeobox D13 IAGP HPO ORPHA:887 NCBI chr 2:176,087,487...176,095,944
Ensembl chr 2:176,092,721...176,095,944 		JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO OMIM:614880 ORPHA:432 ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868 		JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:1865 ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO OMIM:236680 ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G IGBP1 immunoglobulin binding protein 1 IAGP HPO ORPHA:52055 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324 		JBrowse link
G IGF2 insulin like growth factor 2 IAGP HPO ORPHA:397590 NCBI chr11:2,129,117...2,149,566
Ensembl chr11:2,129,112...2,158,391 		JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306 		JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO ORPHA:2314 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022 		JBrowse link
G INPP5E inositol polyphosphate-5-phosphatase E IAGP ClinVar Annotator: match by term: Cleft hard and soft palate ClinVar
HPO		 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 		JBrowse link
G INPPL1 inositol polyphosphate phosphatase like 1 IAGP HPO ORPHA:3144 NCBI chr11:72,223,563...72,239,147
Ensembl chr11:72,223,701...72,239,147 		JBrowse link
G INTS1 integrator complex subunit 1 IAGP HPO OMIM:618571 NCBI chr 7:1,470,277...1,504,389
Ensembl chr 7:1,470,277...1,504,389 		JBrowse link
G INTU inturned planar cell polarity protein IAGP HPO OMIM:617925 NCBI chr 4:127,632,957...127,726,737
Ensembl chr 4:127,623,271...127,726,737 		JBrowse link
G IQSEC2 IQ motif and Sec7 domain ArfGEF 2 IAGP HPO ORPHA:819 NCBI chr  X:53,225,813...53,321,350
Ensembl chr  X:53,225,828...53,321,350 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 PMID:12920575 PMID:25741868 OMIM:119300 OMIM:119500 OMIM: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 		JBrowse link
G ITGA8 integrin subunit alpha 8 IAGP HPO ORPHA:1848 NCBI chr10:15,513,954...15,719,922
Ensembl chr10:15,513,954...15,719,922 		JBrowse link
G JARID2 jumonji and AT-rich interaction domain containing 2 IAGP HPO OMIM:620098 NCBI chr 6:15,246,069...15,522,042
Ensembl chr 6:15,246,069...15,522,042 		JBrowse link
G JMJD1C jumonji domain containing 1C IAGP HPO ORPHA:567 NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850 		JBrowse link
G JUP junction plakoglobin IAGP HPO ORPHA:158687 NCBI chr17:41,754,609...41,786,711
Ensembl chr17:41,754,604...41,786,931 		JBrowse link
G KANSL1 KAT8 regulatory NSL complex subunit 1 IAGP HPO OMIM:610443 NCBI chr17:46,029,916...46,225,367
Ensembl chr17:46,029,916...46,225,389 		JBrowse link
G KAT6A lysine acetyltransferase 6A IAGP HPO OMIM:616268 ORPHA:457193 NCBI chr 8:41,929,479...42,051,987
Ensembl chr 8:41,929,479...42,051,994 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO OMIM:603736 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KATNIP katanin interacting protein IAGP HPO OMIM:616784 NCBI chr16:27,550,144...27,780,344
Ensembl chr16:27,550,133...27,780,344 		JBrowse link
G KCNA1 potassium voltage-gated channel subfamily A member 1 IAGP HPO ORPHA:1934 NCBI chr12:4,909,905...4,918,256
Ensembl chr12:4,909,905...4,918,256 		JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165 		JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO OMIM:170390 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044 		JBrowse link
G KCNMA1 potassium calcium-activated channel subfamily M alpha 1 IAGP HPO ORPHA:3473 NCBI chr10:76,869,602...77,637,808
Ensembl chr10:76,869,601...77,638,369 		JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281 		JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP HPO OMIM:617337 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468 		JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO OMIM:147920 OMIM:300867 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779 		JBrowse link
G KIAA0586 KIAA0586 IAGP HPO OMIM:616546 NCBI chr14:58,427,400...58,562,090
Ensembl chr14:58,427,385...58,551,297 		JBrowse link
G KIAA0753 KIAA0753 IAGP HPO ORPHA:2754 NCBI chr17:6,578,147...6,640,711
Ensembl chr17:6,578,147...6,640,711 		JBrowse link
G KIF15 kinesin family member 15 IAGP HPO OMIM:619981 NCBI chr 3:44,761,794...44,868,687
Ensembl chr 3:44,761,721...44,873,376 		JBrowse link
G KIF1A kinesin family member 1A IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:240,713,767...240,821,403
Ensembl chr 2:240,713,761...240,824,293 		JBrowse link
G KIF21A kinesin family member 21A IAGP HPO ORPHA:994 NCBI chr12:39,293,228...39,443,120
Ensembl chr12:39,293,228...39,443,390 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO OMIM:200990 OMIM:614120 ORPHA:2189 ORPHA:2754 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KIFBP kinesin family binding protein IAGP HPO ORPHA:66629 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544 		JBrowse link
G KISS1 KiSS-1 metastasis suppressor IAGP HPO ORPHA:432 NCBI chr 1:204,190,341...204,196,491
Ensembl chr 1:204,190,341...204,196,491 		JBrowse link
G KISS1R KISS1 receptor IAGP HPO ORPHA:432 NCBI chr19:917,333...921,005
Ensembl chr19:917,287...921,005 		JBrowse link
G KLHL41 kelch like family member 41 IAGP HPO OMIM:615731 NCBI chr 2:169,509,702...169,526,258
Ensembl chr 2:169,509,702...169,526,258 		JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO OMIM:147920 ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO OMIM:236670 ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LARS2 leucyl-tRNA synthetase 2, mitochondrial IAGP HPO OMIM:615300 NCBI chr 3:45,388,576...45,549,407
Ensembl chr 3:45,388,561...45,554,726 		JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:166119 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355 		JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO OMIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156 		JBrowse link
G LFNG LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase IAGP HPO ORPHA:2311 NCBI chr 7:2,512,529...2,529,177
Ensembl chr 7:2,512,529...2,529,177 		JBrowse link
G LMBRD1 LMBR1 domain containing 1 IAGP HPO ORPHA:79284 NCBI chr 6:69,674,010...69,797,010
Ensembl chr 6:69,672,757...69,867,236 		JBrowse link
G LMX1B LIM homeobox transcription factor 1 beta IAGP HPO OMIM:161200 NCBI chr 9:126,613,928...126,701,032
Ensembl chr 9:126,613,928...126,701,032 		JBrowse link
G LRRC32 leucine rich repeat containing 32 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 PMID:30976112 OMIM:619074 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747 		JBrowse link
G MAD2L2 mitotic arrest deficient 2 like 2 IAGP HPO ORPHA:84 NCBI chr 1:11,674,480...11,691,830
Ensembl chr 1:11,658,918...11,691,811 		JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737 		JBrowse link
G MAFB MAF bZIP transcription factor B IAGP HPO ORPHA:233 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236 		JBrowse link
G MAMLD1 mastermind like domain containing 1 IAGP HPO ORPHA:95706 NCBI chr  X:150,361,572...150,514,173
Ensembl chr  X:150,361,422...150,514,178 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO OMIM:163950 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO OMIM:617137 ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086 		JBrowse link
G MAPK1 mitogen-activated protein kinase 1 IAGP HPO ORPHA:261330 NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680 		JBrowse link
G MAPRE2 microtubule associated protein RP/EB family member 2 IAGP HPO OMIM:616734 ORPHA:2505 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470 		JBrowse link
G MASP1 MBL associated serine protease 1 IAGP HPO OMIM:257920 NCBI chr 3:187,217,282...187,291,737
Ensembl chr 3:187,217,282...187,291,980 		JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO OMIM:308205 ORPHA:85284 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423 		JBrowse link
G MCTP2 multiple C2 and transmembrane domain containing 2 IAGP HPO ORPHA:1596 NCBI chr15:94,231,366...94,483,952
Ensembl chr15:94,231,538...94,483,952 		JBrowse link
G MECOM MDS1 and EVI1 complex locus IAGP HPO OMIM:616738 NCBI chr 3:169,083,507...169,663,712
Ensembl chr 3:169,083,499...169,663,775 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:305450 ORPHA:2728 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MED25 mediator complex subunit 25 IAGP HPO OMIM:616449 ORPHA:464738 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383 		JBrowse link
G MEG3 maternally expressed 3 IAGP HPO ORPHA:96184 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031 		JBrowse link
G MEGF10 multiple EGF like domains 10 IAGP HPO OMIM:614399 OMIM:620249 NCBI chr 5:127,229,300...127,461,222
Ensembl chr 5:127,290,796...127,465,737 		JBrowse link
G MEIS2 Meis homeobox 2 IAGP HPO OMIM:600987 ORPHA:261190 NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299 		JBrowse link
G MEOX1 mesenchyme homeobox 1 IAGP HPO OMIM:214300 ORPHA:2345 NCBI chr17:43,640,389...43,661,922
Ensembl chr17:43,640,389...43,661,922 		JBrowse link
G MESP2 mesoderm posterior bHLH transcription factor 2 IAGP HPO ORPHA:2311 NCBI chr15:89,776,332...89,778,754
Ensembl chr15:89,760,591...89,778,754 		JBrowse link
G MID1 midline 1 IAGP HPO OMIM:300000 ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654 		JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:2473 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222 		JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO OMIM:249000 ORPHA:220493 ORPHA:564 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605 		JBrowse link
G MSX1 msh homeobox 1 IAGP HPO OMIM:608874 ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO OMIM:168500 ORPHA:60015 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G MT-CYB mitochondrially encoded cytochrome b IAGP HPO ORPHA:137675 NCBI chr MT:14,747...15,887
Ensembl chr MT:14,747...15,887 		JBrowse link
G MUSK muscle associated receptor tyrosine kinase IAGP HPO OMIM:208150 ORPHA:994 NCBI chr 9:110,668,791...110,806,558
Ensembl chr 9:110,668,779...110,806,558 		JBrowse link
G MYH3 myosin heavy chain 3 IAGP HPO OMIM:178110 OMIM:618469 ORPHA:2990 NCBI chr17:10,628,532...10,678,417
Ensembl chr17:10,628,526...10,657,309 		JBrowse link
G MYL11 myosin light chain 11 IAGP HPO OMIM:619110 NCBI chr16:30,370,934...30,377,991
Ensembl chr16:30,370,934...30,377,991 		JBrowse link
G MYMK myomaker, myoblast fusion factor IAGP HPO OMIM:254940 ORPHA:1358 NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612 		JBrowse link
G MYMX myomixer, myoblast fusion factor IAGP HPO ORPHA:1358 NCBI chr 6:44,192,721...44,218,234
Ensembl chr 6:44,216,926...44,218,234 		JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar 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 		JBrowse link
G MYO19 myosin XIX IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,495,636...36,544,815
Ensembl chr17:36,495,636...36,543,435 		JBrowse link
G MYOD1 myogenic differentiation 1 IAGP HPO OMIM:618975 ORPHA:994 NCBI chr11:17,719,571...17,722,136
Ensembl chr11:17,719,571...17,722,136 		JBrowse link
G NAE1 NEDD8 activating enzyme E1 subunit 1 IAGP HPO OMIM:620210 NCBI chr16:66,802,878...66,830,976
Ensembl chr16:66,802,875...66,873,256 		JBrowse link
G NBN nibrin IAGP HPO OMIM:251260 ORPHA:647 NCBI chr 8:89,933,331...89,984,667
Ensembl chr 8:89,924,515...90,003,228 		JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021 		JBrowse link
G NDUFB11 NADH:ubiquinone oxidoreductase subunit B11 IAGP HPO OMIM:309801 NCBI chr  X:47,142,216...47,145,491
Ensembl chr  X:47,142,071...47,145,466 		JBrowse link
G NEB nebulin IAGP HPO OMIM:256030 NCBI chr 2:151,485,339...151,734,476
Ensembl chr 2:151,485,336...151,734,487 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO OMIM:225060 ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase IAGP HPO OMIM:617201 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO OMIM:252100 OMIM:263520 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903 		JBrowse link
G NEUROD2 neuronal differentiation 2 IAGP HPO ORPHA:1934 NCBI chr17:39,603,768...39,607,920
Ensembl chr17:39,603,536...39,609,777 		JBrowse link
G NFASC neurofascin IAGP HPO OMIM:618356 NCBI chr 1:204,828,652...205,022,822
Ensembl chr 1:204,828,651...205,022,822 		JBrowse link
G NFIX nuclear factor I X IAGP HPO ORPHA:447980 NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G NHLH2 nescient helix-loop-helix 2 IAGP HPO ORPHA:432 NCBI chr 1:115,831,344...115,841,126
Ensembl chr 1:115,836,377...115,843,917 		JBrowse link
G NIPBL NIPBL cohesin loading factor IAGP HPO OMIM:122470 ORPHA:199 NCBI chr 5:36,876,769...37,066,413
Ensembl chr 5:36,876,769...37,066,413 		JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO 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 		JBrowse link
G NOTCH2 notch receptor 2 IAGP HPO ORPHA:955 NCBI chr 1:119,911,553...120,069,662
Ensembl chr 1:119,911,553...120,100,779 		JBrowse link
G NOTCH3 notch receptor 3 IAGP HPO OMIM:130720 NCBI chr19:15,159,038...15,200,995
Ensembl chr19:15,159,038...15,200,995 		JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:220497 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066 		JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar 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 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO OMIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207 		JBrowse link
G NSMF NMDA receptor synaptonuclear signaling and neuronal migration factor IAGP HPO OMIM:614838 ORPHA:432 NCBI chr 9:137,447,570...137,459,334
Ensembl chr 9:137,447,570...137,459,334 		JBrowse link
G NUP107 nucleoporin 107 IAGP HPO OMIM:616730 OMIM:618348 NCBI chr12:68,686,978...68,745,809
Ensembl chr12:68,686,951...68,745,809 		JBrowse link
G NUP88 nucleoporin 88 IAGP HPO ORPHA:994 NCBI chr17:5,384,833...5,419,662
Ensembl chr17:5,359,668...5,420,164 		JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO OMIM:311200 ORPHA:2750 ORPHA:2754 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO OMIM:224690 ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO OMIM:610125 ORPHA:3157 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PALB2 partner and localizer of BRCA2 IAGP HPO ORPHA:84 NCBI chr16:23,603,165...23,641,310
Ensembl chr16:23,603,160...23,641,321 		JBrowse link
G PAX3 paired box 3 IAGP HPO ORPHA:894 NCBI chr 2:222,199,887...222,298,998
Ensembl chr 2:222,199,887...222,298,998 		JBrowse link
G PDE6D phosphodiesterase 6D IAGP HPO ORPHA:2754 NCBI chr 2:231,732,433...231,781,282
Ensembl chr 2:231,732,433...231,786,272 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PDZD8 PDZ domain containing 8 IAGP HPO OMIM:620021 NCBI chr10:117,277,274...117,375,440
Ensembl chr10:117,277,274...117,375,440 		JBrowse link
G PEX2 peroxisomal biogenesis factor 2 IAGP HPO OMIM:614866 NCBI chr 8:76,980,258...77,001,044
Ensembl chr 8:76,980,258...77,001,044 		JBrowse link
G PEX5 peroxisomal biogenesis factor 5 IAGP HPO OMIM:214110 NCBI chr12:7,188,653...7,218,574
Ensembl chr12:7,188,685...7,218,574 		JBrowse link
G PEX7 peroxisomal biogenesis factor 7 IAGP HPO OMIM:215100 NCBI chr 6:136,822,592...136,913,934
Ensembl chr 6:136,822,564...136,913,934 		JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP HPO OMIM:614207 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 PMID:25741868 PMID:30345601 OMIM:615716 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797 		JBrowse link
G PGM1 phosphoglucomutase 1 IAGP HPO OMIM:614921 NCBI chr 1:63,593,411...63,660,245
Ensembl chr 1:63,593,411...63,660,245 		JBrowse link
G PHF8 PHD finger protein 8 IAGP HPO OMIM:300263 NCBI chr  X:53,936,680...54,048,936
Ensembl chr  X:53,936,676...54,048,958 		JBrowse link
G PHGDH phosphoglycerate dehydrogenase IAGP HPO OMIM:256520 NCBI chr 1:119,711,934...119,744,215
Ensembl chr 1:119,648,411...119,744,218 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:114300 OMIM:248700 ORPHA:2461 ORPHA:376 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200 		JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO OMIM:280000 ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797 		JBrowse link
G PIGN phosphatidylinositol glycan anchor biosynthesis class N IAGP HPO OMIM:614080 ORPHA:2059 NCBI chr18:62,017,615...62,187,056
Ensembl chr18:61,905,255...62,187,118 		JBrowse link
G PIGO phosphatidylinositol glycan anchor biosynthesis class O IAGP HPO OMIM:614749 NCBI chr 9:35,088,688...35,096,591
Ensembl chr 9:35,087,237...35,096,619 		JBrowse link
G PIGP phosphatidylinositol glycan anchor biosynthesis class P IAGP HPO ORPHA:1934 NCBI chr21:37,065,364...37,073,071
Ensembl chr21:37,062,846...37,073,170 		JBrowse link
G PIGQ phosphatidylinositol glycan anchor biosynthesis class Q IAGP HPO ORPHA:1934 NCBI chr16:569,968...584,109
Ensembl chr16:566,995...584,109 		JBrowse link
G PIGV phosphatidylinositol glycan anchor biosynthesis class V IAGP HPO OMIM:239300 NCBI chr 1:26,787,054...26,800,659
Ensembl chr 1:26,787,054...26,800,659 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:36,534,987...36,539,303
Ensembl chr17:36,534,987...36,539,310 		JBrowse link
G PLAG1 PLAG1 zinc finger IAGP HPO ORPHA:397590 NCBI chr 8:56,160,909...56,211,273
Ensembl chr 8:56,160,909...56,211,324 		JBrowse link
G PLCB4 phospholipase C beta 4 IAGP HPO OMIM:614669 ORPHA:137888 NCBI chr20:9,068,678...9,480,808
Ensembl chr20:9,067,825...9,504,593 		JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO OMIM:619895 ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071 		JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676 		JBrowse link
G PNKP polynucleotide kinase 3'-phosphatase IAGP HPO ORPHA:1934 NCBI chr19:49,861,204...49,867,576
Ensembl chr19:49,859,882...49,878,351 		JBrowse link
G POGZ pogo transposable element derived with ZNF domain IAGP HPO OMIM:616364 NCBI chr 1:151,402,724...151,459,494
Ensembl chr 1:151,402,724...151,459,494 		JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO OMIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155 		JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO OMIM:618939 ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818 		JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO OMIM:248390 ORPHA:861 NCBI chr 6:43,517,089...44,461,400
Ensembl chr 6:43,509,702...43,562,419 		JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO OMIM:613717 ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237 		JBrowse link
G POLR2A RNA polymerase II subunit A IAGP HPO OMIM:618603 NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO OMIM:236670 ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO OMIM:236670 OMIM:613150 ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO OMIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814 		JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO OMIM:618265 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278 		JBrowse link
G PQBP1 polyglutamine binding protein 1 IAGP HPO OMIM:309500 ORPHA:93946 NCBI chr  X:48,897,930...48,903,143
Ensembl chr  X:48,890,197...48,903,402 		JBrowse link
G PRDM5 PR/SET domain 5 IAGP HPO ORPHA:90354 NCBI chr 4:120,684,291...120,922,726
Ensembl chr 4:120,684,919...120,922,870 		JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206 		JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO OMIM:244200 ORPHA:3157 ORPHA:432 ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954 		JBrowse link
G PRRX1 paired related homeobox 1 IAGP HPO OMIM:202650 NCBI chr 1:170,662,768...170,739,421
Ensembl chr 1:170,662,728...170,739,421 		JBrowse link
G PSAT1 phosphoserine aminotransferase 1 IAGP HPO OMIM:616038 NCBI chr 9:78,297,125...78,330,093
Ensembl chr 9:78,297,125...78,330,093 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:109400 OMIM: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 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO OMIM:151050 ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP HPO OMIM:151100 OMIM:163950 NCBI chr12:112,418,947...112,509,918
Ensembl chr12:112,418,351...112,509,918 		JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO OMIM:615583 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:614701 ORPHA:199 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RAD51 RAD51 recombinase IAGP HPO ORPHA:84 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340 		JBrowse link
G RAD51C RAD51 paralog C IAGP HPO ORPHA:84 NCBI chr17:58,692,573...58,735,611
Ensembl chr17:58,692,573...58,735,611 		JBrowse link
G RAI1 retinoic acid induced 1 IAGP HPO ORPHA:819 NCBI chr17:17,681,458...17,811,453
Ensembl chr17:17,681,458...17,811,453 		JBrowse link
G RAPSN receptor associated protein of the synapse IAGP HPO OMIM:618388 ORPHA:994 NCBI chr11:47,437,764...47,449,136
Ensembl chr11:47,437,764...47,449,143 		JBrowse link
G RARB retinoic acid receptor beta IAGP HPO OMIM:615524 NCBI chr 3:24,829,321...25,597,932
Ensembl chr 3:24,687,887...25,597,932 		JBrowse link
G RB1 RB transcriptional corepressor 1 IAGP HPO OMIM:180200 NCBI chr13:48,303,751...48,481,890
Ensembl chr13:48,303,744...48,599,436 		JBrowse link
G RBM10 RNA binding motif protein 10 IAGP HPO OMIM:311900 ORPHA:2886 NCBI chr  X:47,145,221...47,186,813
Ensembl chr  X:47,145,221...47,186,813 		JBrowse link
G RBM8A RNA binding motif protein 8A IAGP HPO OMIM:274000 ORPHA:3320 NCBI chr 1:145,921,556...145,927,484
Ensembl chr 1:145,921,556...145,927,678 		JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO OMIM:218600 OMIM:266280 ORPHA:1225 ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845 		JBrowse link
G RET ret proto-oncogene IAGP HPO ORPHA:1848 NCBI chr10:43,077,069...43,130,351
Ensembl chr10:43,077,064...43,130,351 		JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715 		JBrowse link
G RFWD3 ring finger and WD repeat domain 3 IAGP HPO ORPHA:84 NCBI chr16:74,621,399...74,666,877
Ensembl chr16:74,621,399...74,666,877 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO OMIM:618761 ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO OMIM:263650 ORPHA:1234 ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089 		JBrowse link
G RIPPLY2 ripply transcriptional repressor 2 IAGP HPO ORPHA:2311 NCBI chr 6:83,853,229...83,857,515
Ensembl chr 6:83,853,360...83,857,515 		JBrowse link
G RNU12 RNA, U12 small nuclear IAGP HPO OMIM:603116 ORPHA:85199 NCBI chr22:42,615,244...42,615,393
Ensembl chr22:42,615,244...42,615,393 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPGRIP1 RPGR interacting protein 1 IAGP HPO ORPHA:564 NCBI chr14:21,280,083...21,351,301
Ensembl chr14:21,280,083...21,351,301 		JBrowse link
G RPGRIP1L RPGRIP1 like IAGP associated with Meckel Syndrome, Type 5;DNA:mutations:exons: HPO
RGD		 PMID:17558409 OMIM:611561 ORPHA:220497 ORPHA:564, RGD:11073359 NCBI chr16:53,598,153...53,703,859
Ensembl chr16:53,598,153...53,703,938 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO OMIM:612562 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO OMIM:612561 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO OMIM:105650 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO OMIM:613309 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO OMIM:606164 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RREB1 ras responsive element binding protein 1 IAGP HPO ORPHA:567 NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980 		JBrowse link
G RSPO2 R-spondin 2 IAGP HPO OMIM:618021 NCBI chr 8:107,899,316...108,083,620
Ensembl chr 8:107,899,316...108,083,642 		JBrowse link
G RTL1 retrotransposon Gag like 1 IAGP HPO ORPHA:96184 NCBI chr14:100,879,753...100,903,722
Ensembl chr14:100,879,753...100,903,722 		JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO OMIM:119600 ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SALL4 spalt like transcription factor 4 IAGP HPO ORPHA:233 NCBI chr20:51,782,331...51,802,521
Ensembl chr20:51,782,331...51,802,521 		JBrowse link
G SATB2 SATB homeobox 2 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar
HPO		 PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More... OMIM:612313 ORPHA:251019 ORPHA:251028 ORPHA:576283 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266 		JBrowse link
G SCARF2 scavenger receptor class F member 2 IAGP HPO OMIM:600920 NCBI chr22:20,424,584...20,437,825
Ensembl chr22:20,424,584...20,437,826 		JBrowse link
G SCN1B sodium voltage-gated channel beta subunit 1 IAGP HPO ORPHA:1934 NCBI chr19:35,030,470...35,040,449
Ensembl chr19:35,030,470...35,040,449 		JBrowse link
G SCN2A sodium voltage-gated channel alpha subunit 2 IAGP HPO ORPHA:1934 NCBI chr 2:165,239,414...165,392,304
Ensembl chr 2:165,194,993...165,392,310 		JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO OMIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079 		JBrowse link
G SEC23A SEC23 homolog A, COPII coat complex component IAGP HPO OMIM:607812 NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646 		JBrowse link
G SEC24C SEC24 homolog C, COPII coat complex component IAGP HPO ORPHA:567 NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161 		JBrowse link
G SELENOI selenoprotein I IAGP HPO OMIM:618768 ORPHA:506353 NCBI chr 2:26,346,143...26,395,885
Ensembl chr 2:26,308,547...26,395,885 		JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724 		JBrowse link
G SEMA3E semaphorin 3E IAGP HPO ORPHA:138 NCBI chr 7:83,363,238...83,649,139
Ensembl chr 7:83,363,238...83,649,139 		JBrowse link
G SEPTIN9 septin 9 IAGP HPO OMIM:162100 ORPHA:2901 NCBI chr17:77,281,499...77,500,596
Ensembl chr17:77,280,569...77,500,596 		JBrowse link
G SETD5 SET domain containing 5 IAGP HPO ORPHA:404440 NCBI chr 3:9,397,615...9,478,154
Ensembl chr 3:9,397,615...9,479,240 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP HPO OMIM:164210 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP HPO OMIM:154400 ORPHA:245 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803 		JBrowse link
G SH2B1 SH2B adaptor protein 1 IAGP HPO ORPHA:261197 NCBI chr16:28,846,606...28,874,205
Ensembl chr16:28,846,600...28,874,212 		JBrowse link
G SHH sonic hedgehog signaling molecule IAGP HPO OMIM: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 		JBrowse link
G SIK1 salt inducible kinase 1 IAGP HPO ORPHA:1934 NCBI chr21:43,414,483...43,427,131
Ensembl chr21:43,414,483...43,427,131 		JBrowse link
G SIX1 SIX homeobox 1 IAGP HPO OMIM:113650 ORPHA:107 ORPHA:52429 NCBI chr14:60,643,421...60,649,477
Ensembl chr14:60,643,421...60,658,259 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO 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 		JBrowse link
G SIX5 SIX homeobox 5 IAGP HPO ORPHA:107 NCBI chr19:45,764,785...45,769,252
Ensembl chr19:45,764,785...45,769,252 		JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO OMIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372 		JBrowse link
G SLC18A3 solute carrier family 18 member A3 IAGP HPO ORPHA:994 NCBI chr10:49,610,310...49,612,720
Ensembl chr10:49,610,310...49,612,720 		JBrowse link
G SLC25A22 solute carrier family 25 member 22 IAGP HPO ORPHA:1934 NCBI chr11:790,475...798,281
Ensembl chr11:790,475...798,281 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO OMIM:222600 OMIM: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 		JBrowse link
G SLC32A1 solute carrier family 32 member 1 IAGP HPO ORPHA:1934 NCBI chr20:38,724,486...38,729,372
Ensembl chr20:38,724,486...38,729,372 		JBrowse link
G SLC35B2 solute carrier family 35 member B2 IAGP HPO OMIM:620269 NCBI chr 6:44,254,101...44,257,890
Ensembl chr 6:44,254,096...44,257,890 		JBrowse link
G SLC35D1 solute carrier family 35 member D1 IAGP HPO OMIM:269250 ORPHA:3144 NCBI chr 1:66,972,976...67,054,148
Ensembl chr 1:66,999,350...67,054,148 		JBrowse link
G SLX4 SLX4 structure-specific endonuclease subunit IAGP HPO ORPHA:84 NCBI chr16:3,581,181...3,611,606
Ensembl chr16:3,581,181...3,611,606 		JBrowse link
G SMAD3 SMAD family member 3 IAGP HPO OMIM:613795 ORPHA:284984 NCBI chr15:67,065,602...67,195,169
Ensembl chr15:67,063,763...67,195,173 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO OMIM:139210 ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Cleft hard and soft palate ClinVar
HPO		 PMID:22426308 PMID:25741868 PMID:28973083 OMIM:614609 NCBI chr19:10,961,030...11,062,273
Ensembl chr19:10,960,932...11,079,426 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP HPO OMIM:614608 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009 		JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO OMIM:301044 ORPHA:199 ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728 		JBrowse link
G SMC3 structural maintenance of chromosomes 3 IAGP HPO OMIM:610759 ORPHA:199 NCBI chr10:110,567,695...110,606,048
Ensembl chr10:110,567,684...110,606,048 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO OMIM:603457 ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SMO smoothened, frizzled class receptor IAGP HPO OMIM:241800 NCBI chr 7:129,188,633...129,213,545
Ensembl chr 7:129,188,633...129,213,545 		JBrowse link
G SMOC1 SPARC related modular calcium binding 1 IAGP HPO OMIM:206920 ORPHA:1106 NCBI chr14:69,879,416...70,032,366
Ensembl chr14:69,854,131...70,032,366 		JBrowse link
G SMS spermine synthase IAGP HPO OMIM:309583 ORPHA:3063 NCBI chr  X:21,940,709...21,994,837
Ensembl chr  X:21,940,709...21,994,837 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO OMIM:117650 ORPHA:1393 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G SNRPN small nuclear ribonucleoprotein polypeptide N IAGP HPO ORPHA:177907 NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422 		JBrowse link
G SOX2 SRY-box transcription factor 2 IAGP HPO ORPHA:3157 NCBI chr 3:181,711,925...181,714,436
Ensembl chr 3:181,711,925...181,714,436 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar
HPO		 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 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 ORPHA:140 ORPHA:718 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like IAGP HPO OMIM:600251 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739 		JBrowse link
G SPINT2 serine peptidase inhibitor, Kunitz type 2 IAGP HPO OMIM:270420 NCBI chr19:38,264,573...38,292,615
Ensembl chr19:38,244,035...38,292,615 		JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO OMIM:255995 ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO OMIM:301022 OMIM:301043 ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G STAMBP STAM binding protein IAGP HPO OMIM:614261 NCBI chr 2:73,828,961...73,873,656
Ensembl chr 2:73,828,916...73,873,659 		JBrowse link
G STAT3 signal transducer and activator of transcription 3 IAGP HPO ORPHA:2314 NCBI chr17:42,313,324...42,388,442
Ensembl chr17:42,313,324...42,388,568 		JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO 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 		JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535 		JBrowse link
G TAC3 tachykinin precursor 3 IAGP HPO ORPHA:432 NCBI chr12:57,010,000...57,016,529
Ensembl chr12:57,010,000...57,028,883 		JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985 		JBrowse link
G TAPT1 transmembrane anterior posterior transformation 1 IAGP HPO OMIM:616897 NCBI chr 4:16,160,505...16,227,390
Ensembl chr 4:16,160,505...16,227,410 		JBrowse link
G TBC1D24 TBC1 domain family member 24 IAGP HPO OMIM:220500 ORPHA:79500 NCBI chr16:2,475,127...2,505,730
Ensembl chr16:2,475,051...2,509,560 		JBrowse link
G TBR1 T-box brain transcription factor 1 IAGP HPO ORPHA:1617 NCBI chr 2:161,416,297...161,425,870
Ensembl chr 2:161,416,297...161,425,870 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:188400 OMIM:192430 ORPHA:1727 ORPHA:567 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TBX15 T-box transcription factor 15 IAGP HPO OMIM:260660 NCBI chr 1:118,883,047...118,989,510
Ensembl chr 1:118,883,046...118,989,556 		JBrowse link
G TBX2 T-box transcription factor 2 IAGP HPO OMIM:618223 NCBI chr17:61,399,843...61,409,466
Ensembl chr17:61,399,843...61,409,466 		JBrowse link
G TBX22 T-box transcription factor 22 IAGP HPO OMIM:302905 OMIM:303400 ORPHA:921 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774 		JBrowse link
G TBX4 T-box transcription factor 4 IAGP HPO OMIM:147891 NCBI chr17:61,452,422...61,485,110
Ensembl chr17:61,452,404...61,485,110 		JBrowse link
G TBX6 T-box transcription factor 6 IAGP HPO ORPHA:1797 NCBI chr16:30,085,793...30,091,924
Ensembl chr16:30,085,793...30,091,924 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO OMIM:154500 ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TCTN1 tectonic family member 1 IAGP HPO ORPHA:564 NCBI chr12:110,614,129...110,649,430
Ensembl chr12:110,614,027...110,663,431 		JBrowse link
G TCTN2 tectonic family member 2 IAGP HPO OMIM:613885 ORPHA:564 NCBI chr12:123,671,113...123,708,399
Ensembl chr12:123,671,110...123,708,399 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO OMIM:258860 OMIM:614815 ORPHA:2753 ORPHA:2754 ORPHA:564 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G TELO2 telomere maintenance 2 IAGP HPO OMIM:616954 ORPHA:488642 NCBI chr16:1,493,360...1,510,454
Ensembl chr16:1,493,344...1,510,457 		JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO OMIM:113620 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659 		JBrowse link
G TFE3 transcription factor binding to IGHM enhancer 3 IAGP HPO OMIM:301066 NCBI chr  X:49,028,726...49,043,357
Ensembl chr  X:49,028,726...49,043,410 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP HPO OMIM:616145 ORPHA:1388 NCBI chr13:94,574,054...94,596,273
Ensembl chr13:94,574,054...94,596,242 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TGFBR1 transforming growth factor beta receptor 1 IAGP HPO OMIM:609192 NCBI chr 9:99,103,647...99,154,192
Ensembl chr 9:99,104,038...99,154,192 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 IAGP HPO OMIM:610168 NCBI chr 3:30,606,356...30,694,142
Ensembl chr 3:30,606,478...30,694,249 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO 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 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar
HPO		 PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 OMIM:213980 ORPHA:1394 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755 		JBrowse link
G TMEM107 transmembrane protein 107 IAGP HPO ORPHA:564 NCBI chr17:8,172,457...8,176,380
Ensembl chr17:8,172,457...8,176,399 		JBrowse link
G TMEM216 transmembrane protein 216 IAGP HPO OMIM:603194 ORPHA:2754 ORPHA:564 NCBI chr11:61,392,587...61,398,846
Ensembl chr11:61,392,393...61,398,866 		JBrowse link
G TMEM231 transmembrane protein 231 IAGP HPO ORPHA:564 NCBI chr16:75,536,741...75,556,286
Ensembl chr16:75,536,741...75,556,289 		JBrowse link
G TMEM237 transmembrane protein 237 IAGP HPO OMIM:614424 ORPHA:220497 ORPHA:564 NCBI chr 2:201,620,186...201,643,503
Ensembl chr 2:201,620,184...201,643,570 		JBrowse link
G TMEM67 transmembrane protein 67 IAGP HPO OMIM:607361 ORPHA:564 NCBI chr 8:93,754,844...93,832,653
Ensembl chr 8:93,754,844...93,819,234 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Cleft palate ClinVar 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 		JBrowse link
G TOPORS TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase IAGP HPO ORPHA:2754 NCBI chr 9:32,540,544...32,552,586
Ensembl chr 9:32,540,544...32,552,586 		JBrowse link
G TP63 tumor protein p63 IAGP HPO OMIM:106260 OMIM:129400 OMIM:603543 OMIM: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 		JBrowse link
G TRAPPC2 trafficking protein particle complex subunit 2 IAGP HPO ORPHA:93284 NCBI chr  X:13,712,245...13,734,620
Ensembl chr  X:13,712,244...13,734,635 		JBrowse link
G TRIM8 tripartite motif containing 8 IAGP HPO ORPHA:1934 NCBI chr10:102,644,479...102,658,319
Ensembl chr10:102,642,503...102,658,318 		JBrowse link
G TRIP13 thyroid hormone receptor interactor 13 IAGP HPO OMIM:617598 ORPHA:1052 NCBI chr 5:892,884...919,348
Ensembl chr 5:892,884...919,357 		JBrowse link
G TRPV4 transient receptor potential cation channel subfamily V member 4 IAGP HPO ORPHA:2635 NCBI chr12:109,783,087...109,833,398
Ensembl chr12:109,783,087...109,833,406 		JBrowse link
G TRRAP transformation/transcription domain associated protein IAGP HPO OMIM:618454 NCBI chr 7:98,878,532...99,013,241
Ensembl chr 7:98,877,933...99,050,831 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO OMIM:300946 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G TUBA1A tubulin alpha 1a IAGP HPO ORPHA:994 NCBI chr12:49,184,795...49,189,080
Ensembl chr12:49,184,686...49,189,324 		JBrowse link
G TUBB tubulin beta class I IAGP HPO OMIM:156610 ORPHA:2505 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:101400 ORPHA:794 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G TXNDC15 thioredoxin domain containing 15 IAGP HPO ORPHA:564 NCBI chr 5:134,873,770...134,901,635
Ensembl chr 5:134,874,371...134,901,635 		JBrowse link
G TXNL4A thioredoxin like 4A IAGP HPO OMIM:608572 NCBI chr18:79,970,813...80,033,936
Ensembl chr18:79,970,813...80,033,949 		JBrowse link
G UBE2T ubiquitin conjugating enzyme E2 T IAGP HPO ORPHA:84 NCBI chr 1:202,331,657...202,341,936
Ensembl chr 1:202,331,544...202,341,984 		JBrowse link
G UFD1 ubiquitin recognition factor in ER associated degradation 1 IAGP HPO ORPHA:567 NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202 		JBrowse link
G USP9X ubiquitin specific peptidase 9 X-linked IAGP HPO OMIM:300968 ORPHA:480880 NCBI chr  X:41,085,445...41,236,579
Ensembl chr  X:41,085,445...41,236,579 		JBrowse link
G VANGL1 VANGL planar cell polarity protein 1 IAGP ClinVar Annotator: match by term: Cleft of palate ClinVar PMID:25741868 NCBI chr 1:115,641,970...115,698,221
Ensembl chr 1:115,641,970...115,698,224 		JBrowse link
G VAX1 ventral anterior homeobox 1 IAGP HPO OMIM:614402 NCBI chr10:117,128,520...117,138,270
Ensembl chr10:117,128,521...117,138,301 		JBrowse link
G VPS35L VPS35 endosomal protein sorting factor like IAGP HPO ORPHA:7 NCBI chr16:19,555,703...19,701,163
Ensembl chr16:19,555,240...19,706,793 		JBrowse link
G WASHC5 WASH complex subunit 5 IAGP HPO OMIM:220210 ORPHA:7 NCBI chr 8:125,024,260...125,091,792
Ensembl chr 8:125,024,260...125,091,819 		JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:432 ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524 		JBrowse link
G WDR26 WD repeat domain 26 IAGP HPO OMIM:617616 ORPHA:513456 NCBI chr 1:224,385,146...224,434,797
Ensembl chr 1:224,385,146...224,437,033 		JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO OMIM:613610 OMIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105 		JBrowse link
G WFS1 wolframin ER transmembrane glycoprotein IAGP ClinVar Annotator: match by term: Cleft hard and soft palate ClinVar 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 		JBrowse link
G WNT3 Wnt family member 3 IAGP HPO OMIM:273395 NCBI chr17:46,762,506...46,818,692
Ensembl chr17:46,762,506...46,833,154 		JBrowse link
G WNT4 Wnt family member 4 IAGP HPO OMIM:611812 ORPHA:247768 NCBI chr 1:22,117,313...22,143,097
Ensembl chr 1:22,117,313...22,143,969 		JBrowse link
G WNT7A Wnt family member 7A IAGP HPO ORPHA:2879 NCBI chr 3:13,816,258...13,880,071
Ensembl chr 3:13,816,258...13,880,071 		JBrowse link
G WNT9B Wnt family member 9B IAGP HPO ORPHA:1848 NCBI chr17:46,833,189...46,886,738
Ensembl chr17:46,833,201...46,886,730 		JBrowse link
G XRCC2 X-ray repair cross complementing 2 IAGP HPO ORPHA:84 NCBI chr 7:152,644,776...152,676,141
Ensembl chr 7:152,644,776...152,676,193 		JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO OMIM:615777 ORPHA:370930 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP HPO OMIM:120433 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
G ZC4H2 zinc finger C4H2-type containing IAGP HPO OMIM:301041 NCBI chr  X:64,915,807...65,034,741
Ensembl chr  X:64,915,802...65,034,713 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZIC2 Zic family member 2 IAGP HPO 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 		JBrowse link
G ZNF469 zinc finger protein 469 IAGP HPO ORPHA:90354 NCBI chr16:88,100,931...88,440,753
Ensembl chr16:88,382,959...88,440,757 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Bilateral cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068 		JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 ORPHA:1997 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex IAGP HPO OMIM:619339 NCBI chr10:100,186,319...100,229,596
Ensembl chr10:100,188,300...100,229,596 		JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679 		JBrowse link
G CTNND1 catenin delta 1 IAGP HPO ORPHA:1997 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO OMIM:616788 ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO OMIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G MYCN MYCN proto-oncogene, bHLH transcription factor IAGP ClinVar Annotator: match by term: Bilateral cleft palate ClinVar PMID:25741868 NCBI chr 2:15,940,550...15,947,004
Ensembl chr 2:15,940,550...15,947,007 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO OMIM:614900 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO OMIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC26A2 solute carrier family 26 member 2 IAGP HPO ORPHA:56304 NCBI chr 5:149,960,758...149,987,400
Ensembl chr 5:149,960,758...149,993,455 		JBrowse link
G SOX3 SRY-box transcription factor 3 IAGP ClinVar Annotator: match by term: Right and left cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:140,502,985...140,505,069
Ensembl chr  X:140,502,985...140,505,069 		JBrowse link
G SPOP speckle type BTB/POZ protein IAGP HPO OMIM:618829 NCBI chr17:49,598,884...49,678,163
Ensembl chr17:49,598,884...49,678,163 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Bilateral cleft palate ClinVar 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 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G YAP1 Yes1 associated transcriptional regulator IAGP HPO ORPHA:1473 NCBI chr11:102,110,447...102,233,424
Ensembl chr11:102,110,447...102,233,424 		JBrowse link
Cleft hard palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO OMIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Cleft soft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADA2 adenosine deaminase 2 IAGP HPO ORPHA:124 NCBI chr22:17,178,790...17,221,848
Ensembl chr22:17,178,790...17,258,235 		JBrowse link
G BUB1 BUB1 mitotic checkpoint serine/threonine kinase IAGP HPO OMIM:620183 NCBI chr 2:110,637,528...110,678,063
Ensembl chr 2:110,637,528...110,678,063 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO ORPHA:93316 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO OMIM:616331 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358 		JBrowse link
G FKBP14 FKBP prolyl isomerase 14 IAGP HPO OMIM:614557 NCBI chr 7:30,005,923...30,026,702
Ensembl chr 7:30,010,587...30,026,702 		JBrowse link
G GATA1 GATA binding protein 1 IAGP HPO ORPHA:124 NCBI chr  X:48,786,590...48,794,311
Ensembl chr  X:48,786,540...48,794,311 		JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO OMIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99772 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G H4C5 H4 clustered histone 5 IAGP HPO OMIM:619950 NCBI chr 6:26,204,610...26,205,021
Ensembl chr 6:26,204,610...26,205,021 		JBrowse link
G HEATR3 HEAT repeat containing 3 IAGP HPO ORPHA:124 NCBI chr16:50,065,970...50,107,272
Ensembl chr16:50,065,967...50,107,272 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MSX2 msh homeobox 2 IAGP HPO OMIM:604757 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896 		JBrowse link
G NXN nucleoredoxin IAGP HPO OMIM:618529 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776 		JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 IAGP ClinVar Annotator: match by term: Cleft soft palate ClinVar 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 		JBrowse link
G RPL11 ribosomal protein L11 IAGP HPO ORPHA:124 NCBI chr 1:23,691,779...23,696,835
Ensembl chr 1:23,691,742...23,696,835 		JBrowse link
G RPL15 ribosomal protein L15 IAGP HPO ORPHA:124 NCBI chr 3:23,916,545...23,924,631
Ensembl chr 3:23,916,591...23,924,374 		JBrowse link
G RPL18 ribosomal protein L18 IAGP HPO ORPHA:124 NCBI chr19:48,615,331...48,619,178
Ensembl chr19:48,615,328...48,619,184 		JBrowse link
G RPL26 ribosomal protein L26 IAGP HPO ORPHA:124 NCBI chr17:8,377,516...8,383,193
Ensembl chr17:8,377,516...8,383,213 		JBrowse link
G RPL27 ribosomal protein L27 IAGP HPO ORPHA:124 NCBI chr17:42,998,273...43,002,959
Ensembl chr17:42,998,273...43,002,959 		JBrowse link
G RPL31 ribosomal protein L31 IAGP HPO ORPHA:124 NCBI chr 2:101,002,289...101,019,724
Ensembl chr 2:101,002,229...101,024,032 		JBrowse link
G RPL35 ribosomal protein L35 IAGP HPO ORPHA:124 NCBI chr 9:124,857,883...124,861,957
Ensembl chr 9:124,857,880...124,861,981 		JBrowse link
G RPL35A ribosomal protein L35a IAGP HPO ORPHA:124 NCBI chr 3:197,950,190...197,956,610
Ensembl chr 3:197,950,190...197,956,610 		JBrowse link
G RPL5 ribosomal protein L5 IAGP HPO ORPHA:124 NCBI chr 1:92,831,986...92,841,924
Ensembl chr 1:92,832,013...92,841,924 		JBrowse link
G RPL8 ribosomal protein L8 IAGP HPO ORPHA:124 NCBI chr 8:144,789,769...144,792,390
Ensembl chr 8:144,789,765...144,792,587 		JBrowse link
G RPL9 ribosomal protein L9 IAGP HPO ORPHA:124 NCBI chr 4:39,454,124...39,458,922
Ensembl chr 4:39,452,587...39,458,931 		JBrowse link
G RPS10 ribosomal protein S10 IAGP HPO ORPHA:124 NCBI chr 6:34,417,454...34,426,069
Ensembl chr 6:34,417,454...34,426,069 		JBrowse link
G RPS15A ribosomal protein S15a IAGP HPO ORPHA:124 NCBI chr16:18,781,295...18,790,334
Ensembl chr16:18,781,295...18,790,383 		JBrowse link
G RPS17 ribosomal protein S17 IAGP HPO ORPHA:124 NCBI chr15:82,536,750...82,540,457
Ensembl chr15:82,536,750...82,540,459 		JBrowse link
G RPS19 ribosomal protein S19 IAGP HPO ORPHA:124 NCBI chr19:41,860,255...41,872,925
Ensembl chr19:41,860,255...41,872,925 		JBrowse link
G RPS20 ribosomal protein S20 IAGP HPO ORPHA:124 NCBI chr 8:56,067,254...56,074,506
Ensembl chr 8:56,067,254...56,074,510 		JBrowse link
G RPS24 ribosomal protein S24 IAGP HPO ORPHA:124 NCBI chr10:78,033,863...78,056,806
Ensembl chr10:78,033,760...78,056,813 		JBrowse link
G RPS26 ribosomal protein S26 IAGP HPO ORPHA:124 NCBI chr12:56,041,918...56,044,697
Ensembl chr12:56,041,351...56,044,697 		JBrowse link
G RPS27 ribosomal protein S27 IAGP HPO ORPHA:124 NCBI chr 1:153,990,762...153,992,155
Ensembl chr 1:153,990,762...153,992,155 		JBrowse link
G RPS28 ribosomal protein S28 IAGP HPO ORPHA:124 NCBI chr19:8,321,496...8,323,340
Ensembl chr19:8,321,158...8,323,340 		JBrowse link
G RPS29 ribosomal protein S29 IAGP HPO ORPHA:124 NCBI chr14:49,570,988...49,598,710
Ensembl chr14:49,570,984...49,599,164 		JBrowse link
G RPS7 ribosomal protein S7 IAGP HPO ORPHA:124 NCBI chr 2:3,575,260...3,580,920
Ensembl chr 2:3,575,260...3,580,920 		JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO OMIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296 		JBrowse link
G SLC25A19 solute carrier family 25 member 19 IAGP HPO ORPHA:99742 NCBI chr17:75,272,992...75,289,433
Ensembl chr17:75,272,981...75,289,510 		JBrowse link
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 IAGP HPO OMIM:618779 NCBI chr12:50,085,342...50,100,707
Ensembl chr12:50,085,200...50,100,707 		JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP HPO OMIM:117650 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853 		JBrowse link
G TAF4 TATA-box binding protein associated factor 4 IAGP HPO OMIM:620450 NCBI chr20:61,974,798...62,065,881
Ensembl chr20:61,953,469...62,065,881 		JBrowse link
G TBX5 T-box transcription factor 5 IAGP HPO OMIM:142900 NCBI chr12:114,353,911...114,408,442
Ensembl chr12:114,353,911...114,408,442 		JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO OMIM:154500 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308 		JBrowse link
G TGFB3 transforming growth factor beta 3 IAGP HPO OMIM:615582 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011 		JBrowse link
G TSR2 TSR2 ribosome maturation factor IAGP HPO ORPHA:124 NCBI chr  X:54,440,404...54,448,032
Ensembl chr  X:54,440,404...54,448,032 		JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99772 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745 		JBrowse link
G ZPR1 ZPR1 zinc finger IAGP HPO OMIM:619321 NCBI chr11:116,773,799...116,788,023
Ensembl chr11:116,773,799...116,788,039 		JBrowse link
Median cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX3 ALX homeobox 3 IAGP HPO OMIM:136760 NCBI chr 1:110,059,870...110,070,672
Ensembl chr 1:110,059,870...110,070,672 		JBrowse link
G ATP6V1E1 ATPase H+ transporting V1 subunit E1 IAGP HPO OMIM:617402 NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749 		JBrowse link
G CILK1 ciliogenesis associated kinase 1 IAGP HPO OMIM:612651 NCBI chr 6:53,001,303...53,061,824
Ensembl chr 6:53,001,279...53,061,824 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614 		JBrowse link
G EPG5 ectopic P-granules 5 autophagy tethering factor IAGP HPO OMIM:242840 NCBI chr18:45,800,581...45,967,329
Ensembl chr18:45,800,581...45,967,329 		JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP HPO ORPHA:1832 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772 		JBrowse link
G FOXA2 forkhead box A2 IAGP HPO ORPHA:95494 NCBI chr20:22,580,998...22,585,490
Ensembl chr20:22,580,998...22,585,455 		JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262 		JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO ORPHA:95494 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653 		JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606 		JBrowse link
G LBR lamin B receptor IAGP HPO OMIM:169400 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925 		JBrowse link
G LHX4 LIM homeobox 4 IAGP HPO ORPHA:95494 NCBI chr 1:180,228,375...180,278,984
Ensembl chr 1:180,230,264...180,278,984 		JBrowse link
G NUAK2 NUAK family kinase 2 IAGP HPO OMIM:619452 NCBI chr 1:205,302,063...205,321,745
Ensembl chr 1:205,302,063...205,321,745 		JBrowse link
G OTX2 orthodenticle homeobox 2 IAGP HPO ORPHA:95494 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693 		JBrowse link
G PITX1 paired like homeodomain 1 IAGP HPO OMIM:119800 NCBI chr 5:135,027,734...135,034,789
Ensembl chr 5:135,027,734...135,034,813 		JBrowse link
G POU1F1 POU class 1 homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 3:87,259,404...87,276,584
Ensembl chr 3:87,259,404...87,276,584 		JBrowse link
G PROP1 PROP paired-like homeobox 1 IAGP HPO ORPHA:95494 NCBI chr 5:177,992,235...177,996,242
Ensembl chr 5:177,992,235...177,996,242 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO OMIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SLC2A10 solute carrier family 2 member 10 IAGP HPO ORPHA:3342 NCBI chr20:46,708,320...46,736,347
Ensembl chr20:46,709,649...46,736,347 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO OMIM:301043 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO OMIM:142946 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978 		JBrowse link
G TWIST1 twist family bHLH transcription factor 1 IAGP HPO OMIM:617746 NCBI chr 7:19,113,047...19,117,636
Ensembl chr 7:19,020,991...19,117,636 		JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO ORPHA:1827 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Submucous cleft hard palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 IAGP HPO ORPHA:2780 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708 		JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO OMIM:300990 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318 		JBrowse link
G B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 IAGP HPO ORPHA:899 NCBI chr 1:235,439,796...235,504,452
Ensembl chr 1:235,447,190...235,504,452 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BCOR BCL6 corepressor IAGP HPO OMIM:300166 ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329 		JBrowse link
G BICRA BRD4 interacting chromatin remodeling complex associated protein IAGP HPO OMIM:619325 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277 		JBrowse link
G BRAF B-Raf proto-oncogene, serine/threonine kinase IAGP HPO OMIM:115150 ORPHA:1340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929 		JBrowse link
G CARS1 cysteinyl-tRNA synthetase 1 IAGP HPO OMIM:618891 NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613 		JBrowse link
G CDC45 cell division cycle 45 IAGP HPO ORPHA:2554 NCBI chr22:19,479,466...19,520,612
Ensembl chr22:19,479,457...19,520,612 		JBrowse link
G CDC6 cell division cycle 6 IAGP HPO OMIM:613805 ORPHA:2554 NCBI chr17:40,287,879...40,304,657
Ensembl chr17:40,287,879...40,304,657 		JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 IAGP HPO ORPHA:2554 NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258 		JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP HPO OMIM:108300 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554 		JBrowse link
G COL4A1 collagen type IV alpha 1 chain IAGP HPO ORPHA:899 NCBI chr13:110,148,963...110,307,157
Ensembl chr13:110,148,963...110,307,202 		JBrowse link
G CRPPA CDP-L-ribitol pyrophosphorylase A IAGP HPO ORPHA:899 NCBI chr 7:16,087,525...16,421,538
Ensembl chr 7:16,087,525...16,502,504 		JBrowse link
G CUL3 cullin 3 IAGP HPO OMIM:619239 NCBI chr 2:224,470,150...224,585,363
Ensembl chr 2:224,470,150...224,585,397 		JBrowse link
G DAG1 dystroglycan 1 IAGP HPO ORPHA:899 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DGCR2 DiGeorge syndrome critical region gene 2 IAGP HPO OMIM:192430 NCBI chr22:19,036,286...19,122,412
Ensembl chr22:19,036,282...19,122,454 		JBrowse link
G DGCR6 DiGeorge syndrome critical region gene 6 IAGP HPO OMIM:192430 NCBI chr22:18,906,223...18,912,088
Ensembl chr22:18,906,028...18,914,238 		JBrowse link
G DGCR8 DGCR8 microprocessor complex subunit IAGP HPO OMIM:192430 NCBI chr22:20,080,241...20,111,872
Ensembl chr22:20,080,221...20,111,877 		JBrowse link
G DHCR24 24-dehydrocholesterol reductase IAGP HPO ORPHA:35107 NCBI chr 1:54,849,627...54,887,195
Ensembl chr 1:54,849,627...54,887,195 		JBrowse link
G ESS2 ess-2 splicing factor homolog IAGP HPO OMIM:192430 NCBI chr22:19,130,279...19,144,651
Ensembl chr22:19,130,279...19,144,684 		JBrowse link
G FKRP fukutin related protein IAGP HPO ORPHA:899 NCBI chr19:46,744,760...46,758,575
Ensembl chr19:46,746,046...46,776,988 		JBrowse link
G FKTN fukutin IAGP HPO ORPHA:899 NCBI chr 9:105,558,130...105,641,118
Ensembl chr 9:105,558,122...105,653,820 		JBrowse link
G FOXP2 forkhead box P2 IAGP HPO ORPHA:209908 NCBI chr 7:114,086,327...114,693,765
Ensembl chr 7:114,086,327...114,693,772 		JBrowse link
G GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264 		JBrowse link
G GMNN geminin DNA replication inhibitor IAGP HPO ORPHA:2554 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099 		JBrowse link
G GNPAT glyceronephosphate O-acyltransferase IAGP HPO OMIM:222765 NCBI chr 1:231,241,212...231,277,973
Ensembl chr 1:231,241,207...231,277,973 		JBrowse link
G HAAO 3-hydroxyanthranilate 3,4-dioxygenase IAGP HPO OMIM:617660 NCBI chr 2:42,767,089...42,792,583
Ensembl chr 2:42,767,089...42,792,593 		JBrowse link
G HS2ST1 heparan sulfate 2-O-sulfotransferase 1 IAGP HPO OMIM:619194 NCBI chr 1:86,914,635...87,109,982
Ensembl chr 1:86,914,635...87,109,982 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP HPO OMIM:601492 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYLS1 HYLS1 centriolar and ciliogenesis associated IAGP HPO ORPHA:2189 NCBI chr11:125,883,614...125,900,646
Ensembl chr11:125,883,614...125,900,646 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO OMIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KAT6B lysine acetyltransferase 6B IAGP HPO ORPHA:3047 NCBI chr10:74,824,936...75,032,624
Ensembl chr10:74,824,927...75,032,624 		JBrowse link
G KIF7 kinesin family member 7 IAGP HPO ORPHA:2189 NCBI chr15:89,617,309...89,663,049
Ensembl chr15:89,608,789...89,663,086 		JBrowse link
G KRAS KRAS proto-oncogene, GTPase IAGP HPO ORPHA:1340 NCBI chr12:25,205,246...25,250,929
Ensembl chr12:25,205,246...25,250,936 		JBrowse link
G LARGE1 LARGE xylosyl- and glucuronyltransferase 1 IAGP HPO ORPHA:899 NCBI chr22:33,066,663...33,922,824
Ensembl chr22:33,162,226...33,922,841 		JBrowse link
G LIG4 DNA ligase 4 IAGP HPO ORPHA:235 NCBI chr13:108,207,442...108,218,349
Ensembl chr13:108,207,439...108,218,368 		JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:1662 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081 		JBrowse link
G MAP2K1 mitogen-activated protein kinase kinase 1 IAGP HPO ORPHA:1340 NCBI chr15:66,386,912...66,491,544
Ensembl chr15:66,386,837...66,491,656 		JBrowse link
G MAP2K2 mitogen-activated protein kinase kinase 2 IAGP HPO ORPHA:1340 NCBI chr19:4,090,321...4,124,122
Ensembl chr19:4,090,321...4,124,122 		JBrowse link
G NSUN2 NOP2/Sun RNA methyltransferase 2 IAGP HPO ORPHA:235 NCBI chr 5:6,599,239...6,633,044
Ensembl chr 5:6,599,239...6,633,291 		JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP HPO ORPHA:2554 NCBI chr 1:52,372,829...52,409,503
Ensembl chr 1:52,372,829...52,404,423 		JBrowse link
G ORC4 origin recognition complex subunit 4 IAGP HPO ORPHA:2554 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP HPO ORPHA:2554 NCBI chr16:46,689,659...46,698,394
Ensembl chr16:46,689,643...46,698,394 		JBrowse link
G PIEZO2 piezo type mechanosensitive ion channel component 2 IAGP HPO OMIM:114300 ORPHA:2461 NCBI chr18:10,670,247...11,149,569
Ensembl chr18:10,666,483...11,149,569 		JBrowse link
G POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) IAGP HPO ORPHA:899 NCBI chr 1:46,188,683...46,220,305
Ensembl chr 1:46,188,683...46,220,305 		JBrowse link
G POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) IAGP HPO ORPHA:899 NCBI chr 3:43,079,234...43,106,079
Ensembl chr 3:43,079,229...43,106,085 		JBrowse link
G POMK protein O-mannose kinase IAGP HPO ORPHA:899 NCBI chr 8:43,093,515...43,123,434
Ensembl chr 8:43,093,498...43,131,180 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr 9:131,502,918...131,523,799
Ensembl chr 9:131,502,789...131,523,806 		JBrowse link
G POMT2 protein O-mannosyltransferase 2 IAGP HPO ORPHA:899 NCBI chr14:77,274,956...77,320,883
Ensembl chr14:77,274,956...77,320,883 		JBrowse link
G PPP2R5D protein phosphatase 2 regulatory subunit B'delta IAGP HPO ORPHA:457279 NCBI chr 6:42,984,570...43,012,342
Ensembl chr 6:42,984,553...43,012,342 		JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta IAGP HPO OMIM:619680 NCBI chr 7:549,197...728,934
Ensembl chr 7:549,197...727,650 		JBrowse link
G PRR12 proline rich 12 IAGP HPO OMIM:619539 NCBI chr19:49,591,182...49,626,439
Ensembl chr19:49,591,182...49,626,439 		JBrowse link
G PTDSS1 phosphatidylserine synthase 1 IAGP HPO ORPHA:2658 NCBI chr 8:96,261,902...96,336,995
Ensembl chr 8:96,261,902...96,336,995 		JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO OMIM:614701 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776 		JBrowse link
G RNU4ATAC RNA, U4atac small nuclear IAGP HPO ORPHA:2636 NCBI chr 2:121,530,880...121,531,009
Ensembl chr 2:121,530,881...121,531,007 		JBrowse link
G RPS23 ribosomal protein S23 IAGP HPO OMIM:617412 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396 		JBrowse link
G RXYLT1 ribitol xylosyltransferase 1 IAGP HPO ORPHA:899 NCBI chr12:63,779,909...63,809,562
Ensembl chr12:63,779,833...63,809,792 		JBrowse link
G SET SET nuclear proto-oncogene IAGP HPO OMIM:618106 NCBI chr 9:128,683,424...128,696,396
Ensembl chr 9:128,683,424...128,696,400 		JBrowse link
G SIAH1 siah E3 ubiquitin protein ligase 1 IAGP HPO OMIM:619314 NCBI chr16:48,360,531...48,387,246
Ensembl chr16:48,356,364...48,448,402 		JBrowse link
G SIX3 SIX homeobox 3 IAGP HPO OMIM:157170 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071 		JBrowse link
G SMAD4 SMAD family member 4 IAGP HPO ORPHA:2588 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,528...51,085,045 		JBrowse link
G SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1 IAGP HPO ORPHA:2250 NCBI chr18:2,655,726...2,805,017
Ensembl chr18:2,655,726...2,805,017 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO OMIM:617140 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G SOX6 SRY-box transcription factor 6 IAGP HPO OMIM:618971 NCBI chr11:15,966,449...16,738,477
Ensembl chr11:15,966,449...16,739,591 		JBrowse link
G SOX9 SRY-box transcription factor 9 IAGP HPO OMIM:114290 NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416 		JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO OMIM:301043 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G TBX1 T-box transcription factor 1 IAGP HPO OMIM:192430 NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593 		JBrowse link
G TCTN3 tectonic family member 3 IAGP HPO ORPHA:2753 NCBI chr10:95,663,401...95,693,927
Ensembl chr10:95,659,823...95,694,143 		JBrowse link
G WBP11 WW domain binding protein 11 IAGP HPO OMIM:619227 NCBI chr12:14,784,582...14,803,478
Ensembl chr12:14,784,582...14,803,486 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO OMIM:235730 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO OMIM:275210 ORPHA:1662 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180 		JBrowse link
Submucous cleft of soft and hard palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G STAG2 STAG2 cohesin complex component IAGP HPO OMIM:301022 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664 		JBrowse link
G ZEB2 zinc finger E-box binding homeobox 2 IAGP HPO ORPHA:261537 ORPHA:261552 NCBI chr 2:144,384,081...144,520,119
Ensembl chr 2:144,364,364...144,521,057 		JBrowse link
Submucous cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXI3 forkhead box I3 IAGP HPO OMIM:620444 NCBI chr 2:88,446,787...88,452,693
Ensembl chr 2:88,446,787...88,452,693 		JBrowse link
Submucous cleft soft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL3 grainyhead like transcription factor 3 IAGP HPO ORPHA:99771 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482 		JBrowse link
G IPO8 importin 8 IAGP HPO OMIM:619472 NCBI chr12:30,628,988...30,695,869
Ensembl chr12:30,628,988...30,695,869 		JBrowse link
G KCNK9 potassium two pore domain channel subfamily K member 9 IAGP HPO OMIM:612292 NCBI chr 8:139,600,838...139,703,123
Ensembl chr 8:139,600,838...139,704,109 		JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632 		JBrowse link
G NONO non-POU domain containing octamer binding IAGP HPO OMIM:300967 NCBI chr  X:71,283,635...71,301,168
Ensembl chr  X:71,254,814...71,301,522 		JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO ORPHA:3455 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522 		JBrowse link
G SON SON DNA and RNA binding protein IAGP HPO ORPHA:500150 NCBI chr21:33,543,038...33,577,481
Ensembl chr21:33,543,038...33,577,481 		JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP HPO ORPHA:168572 NCBI chr12:57,243,458...57,251,187
Ensembl chr12:57,243,453...57,251,188 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
G UBB ubiquitin B IAGP HPO ORPHA:99771 NCBI chr17:16,380,779...16,382,745
Ensembl chr17:16,380,798...16,382,745 		JBrowse link
G ZSWIM6 zinc finger SWIM-type containing 6 IAGP HPO OMIM:603671 NCBI chr 5:61,332,258...61,546,172
Ensembl chr 5:61,332,258...61,546,172 		JBrowse link
Unilateral cleft palate term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068 		JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093 		JBrowse link
G ASXL1 ASXL transcriptional regulator 1 IAGP HPO OMIM:605039 NCBI chr20:32,358,331...32,439,319
Ensembl chr20:32,358,330...32,439,319 		JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761 		JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537 		JBrowse link
G CDH11 cadherin 11 IAGP HPO ORPHA:1299 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112 		JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330 		JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959 		JBrowse link
G GDF11 growth differentiation factor 11 IAGP HPO OMIM:619122 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264 		JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP HPO OMIM:619103 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G MED12 mediator complex subunit 12 IAGP HPO OMIM:301068 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103 		JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245 		JBrowse link
G PTCH1 patched 1 IAGP HPO OMIM:610828 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057 		JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO OMIM:613705 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599 		JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Craniofacial cleft 663
            Orofacial cleft 657
              Cleft palate 612
                Cleft hard palate + 74
                Cleft soft palate + 60
                Median cleft palate 26
                Non-midline cleft palate + 31
                Submucous cleft palate + 84
Path 2
Term Annotations click to browse term
  Human phenotype 21570
    Phenotypic abnormality 21560
      Abnormality of head or neck 3585
        Abnormality of the head 3556
          Abnormality of the face 3146
            Abnormality of the mouth 2438
              Abnormal oral morphology 2346
                Abnormal oral cavity morphology 2322
                  Abnormal palate morphology 1166
                    Cleft palate 612
                      Cleft hard palate + 74
                      Cleft soft palate + 60
                      Median cleft palate 26
                      Non-midline cleft palate + 31
                      Submucous cleft palate + 84
paths to the root