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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:orofacial cleft
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Accession:DOID:0050567 term browser browse the term
Definition:A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO)
Synonyms:exact_synonym: CLEFT LIP/PALATE;   OFC;   cleft lip or cleft palate;   nonsyndromic cleft lip/palate;   nonsyndromic orofacial cleft;   orofacial clefting;   orofacial clefts
 narrow_synonym: FACIAL CLEFT;   MEDIAN CLEFT LIP AND PALATE
 xref: MIM:PS119530;   MONDO:0000358


show annotations for term's descendants           Sort by:
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short-chain family member 2 ISO DNA:missense mutation: :p.V496A (rs59088485) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate 		ClinVar
RGD		 PMID:25741868 PMID:27229527 PMID:28543373 PMID:27229527 RGD:13831307, RGD:13831309 NCBI chr 3:164,464,124...164,507,607
Ensembl chr 3:164,464,055...164,519,830 		JBrowse link
G Amotl1 angiomotin-like 1 ISO ClinVar Annotator: match by term: Cleft lip/palate ClinVar PMID:25741868 PMID:28492532 PMID:33026150 PMID:36751037 NCBI chr 8:19,630,139...19,749,027
Ensembl chr 8:19,634,510...19,748,869 		JBrowse link
G Axin2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chr10:94,393,379...94,426,579
Ensembl chr10:94,395,909...94,426,575 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Cep70 centrosomal protein 70 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chr 8:108,689,562...108,742,620
Ensembl chr 8:108,689,671...108,742,617 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Fst follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 2:47,856,345...47,863,670
Ensembl chr 2:47,856,345...47,863,491 		JBrowse link
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 7:1,896,229...1,909,147
Ensembl chr 7:1,896,229...1,905,222 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 no_association ISO DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 NCBI chr 2:198,338,005...198,346,007
Ensembl chr 2:198,338,008...198,343,569 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 susceptibility ISO DNA:deletion:cds: (human) RGD PMID:11505167 RGD:12792210 NCBI chr20:12,856,068...12,873,020
Ensembl chr20:12,856,083...12,873,019 		JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr20:30,878,037...30,917,044
Ensembl chr20:30,878,319...30,916,704 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:73,093,142...73,245,784
Ensembl chr18:73,093,142...73,245,784 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26963285 NCBI chr 4:168,997,937...169,131,716
Ensembl chr 4:169,000,968...169,131,716 		JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
G Msx1 msh homeobox 1 ISS OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Myh9 myosin, heavy chain 9 ISO DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human) 		RGD PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592 RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511 NCBI chr 7:111,224,291...111,304,963
Ensembl chr 7:111,224,291...111,304,963 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Cleft lip/palate ClinVar PMID:25741868 NCBI chr18:56,407,308...56,470,007
Ensembl chr18:56,411,200...56,448,612 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate 		ClinVar
RGD		 PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 More... RGD:13831309 NCBI chr17:78,238,747...78,255,645
Ensembl chr17:78,238,747...78,255,645 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr10:84,655,468...84,678,259
Ensembl chr10:84,655,468...84,676,185 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
G Tfap2a transcription factor AP-2 alpha ISS OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr17:24,230,064...24,253,219
Ensembl chr17:24,229,910...24,253,219 		JBrowse link
G Vwa8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr15:60,661,764...60,985,971
Ensembl chr15:60,661,877...60,985,971 		JBrowse link
G Zrsr2 zinc finger (CCCH type), RNA binding motif and serine/arginine rich 2 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:11003938 PMID:25679214 PMID:25741868 PMID:31680349 PMID:38158857 NCBI chr  X:34,179,279...34,201,989
Ensembl chr  X:34,179,311...34,201,986 		JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO
ISS 		ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
OMIM:106260
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10535733 PMID:10839977 PMID:10886756 More... RGD:11568643 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:33963760 NCBI chr 2:227,839,058...228,113,560
Ensembl chr 2:227,839,062...228,113,554 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:75,159,635...75,267,094
Ensembl chr  X:75,159,782...75,267,093 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr10:11,842,307...11,968,266
Ensembl chr10:11,822,620...11,968,266 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr17:6,269,302...6,280,429
Ensembl chr17:6,268,385...6,280,565 		JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:43,468,556...43,665,819
Ensembl chr12:43,468,556...43,665,819 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 4:148,328,099...148,334,992
Ensembl chr 4:148,328,079...148,334,991 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:160,607,289...160,699,760
Ensembl chr 2:160,606,288...160,699,760 		JBrowse link
G Foxe1 forkhead box E1 ISO
ISS 		ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
OMIM:241850
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:65,425,630...65,428,438
Ensembl chr 5:65,425,630...65,428,438 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE 		OMIM
CTD
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chr 1:104,496,447...104,513,061
Ensembl chr 1:104,496,447...104,512,391 		JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO Ectodermal dysplasia-9 OMIA PMID:28011715 NCBI chr 7:135,937,126...135,943,962
Ensembl chr 7:135,937,126...135,943,283 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 4:175,065,011...175,234,672
Ensembl chr 4:175,065,183...175,234,672 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar		 PMID:2449335 PMID:3028782 PMID:8075649 PMID:9537325 PMID:9744472 More... NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 More... NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:90,090,564...90,141,189 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:236,698,901...236,798,099
Ensembl chr 1:236,698,852...236,798,099 		JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:212,849,470...212,986,730
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 ISO Cleft lip with or without cleft palate, ADAMTS20-related OMIA PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 7:127,275,538...127,407,325
Ensembl chr 7:127,275,538...127,407,296 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:26,630,502...26,647,450
Ensembl chr 2:26,630,510...26,651,326 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		ClinVar
RGD		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495, RGD:13442497 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate 		ClinVar
RGD		 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr19:51,402,178...51,471,572
Ensembl chr19:51,402,034...51,471,565 		JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:25741868 PMID:29805042 NCBI chr 3:90,090,025...90,141,247
Ensembl chr 3:90,090,564...90,141,189 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr19:50,944,401...50,951,919
Ensembl chr19:50,944,401...50,951,568 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:30,937,670...31,023,786
Ensembl chr18:30,939,870...30,961,393 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:133,734,673...133,786,328 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human) 		CTD
RGD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
ISS 		van der Woude syndrome, OMIM:119300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
MouseDO
ClinVar
RGD		 PMID:17041601 PMID:18836445 PMID:20436469 PMID:25741868 PMID:28492532 More... RGD:1600214 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association 		ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243 PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human) 		CTD
RGD		 PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 5:163,748,346...163,768,141
Ensembl chr 5:163,748,321...163,768,105 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human) 		RGD PMID:25339627 PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr10:74,625,874...74,627,501
Ensembl chr10:74,625,875...74,628,103 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:53,398,852...53,597,595
Ensembl chr10:53,398,852...53,584,060 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 4:175,065,011...175,234,672
Ensembl chr 4:175,065,183...175,234,672 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 1:179,798,856...179,982,155
Ensembl chr 1:179,799,040...179,982,281 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 3:35,918,370...35,936,330
Ensembl chr 3:35,918,188...35,936,364 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:66,012,405...66,125,101
Ensembl chr 7:66,108,853...66,126,294 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human) 		CTD
RGD		 PMID:21254359 PMID:18797703 RGD:11565176 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
ClinVar		 PMID:16990542 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:83,036,935...83,052,187
Ensembl chr14:83,036,935...83,051,552 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant 		CTD
ClinVar		 PMID:16688749 PMID:25741868 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
G Zfp462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chr 5:74,465,383...74,606,020
Ensembl chr 5:74,468,643...74,606,020 		JBrowse link
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tox3 TOX high mobility group box family member 3 ISO DNA:CNV:Chr.16:52503999, 16q12.1, Hs03924205_cn RGD PMID:30924295 RGD:617154584 NCBI chr19:32,820,957...32,929,776
Ensembl chr19:32,820,977...32,929,776 		JBrowse link
Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate, nonsyndromic, 8 ClinVar PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 More... NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amer1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:64,310,492...64,326,377
Ensembl chr  X:64,300,953...64,326,332 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:26,630,502...26,647,450
Ensembl chr 2:26,630,510...26,651,326 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:103,724,934...104,061,890
Ensembl chr 5:103,724,934...104,125,428 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion 		CTD
RGD		 PMID:9787075 PMID:9787075 RGD:11576291 NCBI chr  X:11,572,328...11,915,831
Ensembl chr  X:11,572,636...11,911,948 		JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:49,955,133...50,002,661
Ensembl chr19:49,959,096...50,002,657 		JBrowse link
G Cdc42 cell division cycle 42 ISS MouseDO NCBI chr 5:154,838,478...154,876,629
Ensembl chr 5:154,839,631...154,876,627 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:252,908,748...252,944,273
Ensembl chr 1:252,908,749...252,944,273 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human) 		RGD PMID:20672350 PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr20:4,788,829...4,818,492
Ensembl chr20:4,788,829...4,817,648 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human) 		CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:82,416,853...82,607,797
Ensembl chr11:82,416,853...82,607,797 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:220,893,660...220,976,331
Ensembl chr 2:220,893,660...220,976,297 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:122,164,454...122,218,796
Ensembl chr 2:122,164,454...122,224,493 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:209,430,457...209,434,832
Ensembl chr 1:209,430,457...209,434,832 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:133,734,557...133,786,678
Ensembl chr 3:133,734,673...133,786,328 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:36,325,552...36,369,995
Ensembl chr15:36,325,599...36,367,926 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 1:194,175,703...194,280,914
Ensembl chr 1:194,175,705...194,280,914 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:157,159,051...157,185,559
Ensembl chr  X:157,159,051...157,182,343 		JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:152,692,507...152,701,372
Ensembl chr 1:152,692,507...152,701,372 		JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,460,909...2,492,322
Ensembl chr18:2,458,253...2,492,322 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:27,793,561...27,809,884
Ensembl chr 5:27,793,552...27,811,825 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:54,134,064...54,405,198
Ensembl chr17:54,134,064...54,405,198 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:171,357,778...171,424,489
Ensembl chr 5:171,357,797...171,424,488 		JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:77,348,573...77,406,165
Ensembl chr11:77,348,961...77,406,006 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 9:56,161,816...56,209,774
Ensembl chr 9:56,161,852...56,234,569 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chr 3:29,614,868...29,627,542
Ensembl chr 3:29,614,868...29,627,542 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism 		ClinVar
CTD
RGD		 PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:143,041,206...143,067,873
Ensembl chr 1:143,049,036...143,067,890 		JBrowse link
G Meg3 maternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33812962 NCBI chr 6:134,274,056...134,306,249 JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations:cds:multiples
ClinVar Annotator: match by term: Cleft palate 		ClinVar
RGD		 PMID:25741868 PMID:30291340 RGD:155598678 NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:60,197,654...60,213,221
Ensembl chr10:60,197,948...60,213,209 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 RGD:5132609 NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 6:100,713,510...100,781,013
Ensembl chr 6:100,713,681...100,781,957 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:98,609,410...98,681,901
Ensembl chr 8:98,609,399...98,752,036 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:62,911,705...62,996,544
Ensembl chr17:62,911,771...62,996,541 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:95,483,105...95,488,031
Ensembl chr 7:95,483,105...95,488,028 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr10:70,250,500...70,279,867
Ensembl chr10:70,250,022...70,279,858 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:110,675,107...110,715,586
Ensembl chr 6:110,675,107...110,715,586 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:11,686,088...11,706,604
Ensembl chr 4:11,686,268...11,706,664 		JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:79,917,466...79,938,551
Ensembl chr 6:79,921,801...79,938,549 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: nonsyndromic cleft palate 		CTD
ClinVar		 PMID:18264099 PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 More... NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr10:70,246,904...70,248,412
Ensembl chr10:70,243,810...70,250,329 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:220,391,417...220,411,588
Ensembl chr 2:220,391,888...220,411,591 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISS MouseDO NCBI chr 1:104,595,339...104,605,552
Ensembl chr 1:104,595,335...104,604,827 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,548,449...1,613,461
Ensembl chr17:1,548,449...1,613,461 		JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:135,246,427...135,268,889
Ensembl chr 7:135,246,427...135,268,889 		JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 5:166,048,770...166,380,559
Ensembl chr 5:166,048,844...166,380,558 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr17:12,124,749...12,300,044
Ensembl chr17:12,124,749...12,300,044 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:112,298,158...112,370,912
Ensembl chr 8:112,298,369...112,370,908 		JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate 		CTD
ClinVar		 PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:66,012,405...66,125,101
Ensembl chr 7:66,108,853...66,126,294 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:7,687,872...7,697,025
Ensembl chr 4:7,687,846...7,697,901 		JBrowse link
G Shox2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:153,524,324...153,537,571
Ensembl chr 2:153,527,571...153,537,161 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:46,883,859...46,923,305
Ensembl chr11:46,883,859...46,923,305 		JBrowse link
G Six2 SIX homeobox 2 ISS MouseDO NCBI chr 6:14,727,756...14,734,219
Ensembl chr 6:14,727,859...14,731,941 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:11,583,928...11,601,959
Ensembl chr20:11,583,929...11,601,488 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 PMID:32686290 PMID:33461977 More... NCBI chr 8:28,438,370...28,535,071
Ensembl chr 8:28,443,810...28,535,070 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISS MouseDO NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:89,106,809...89,111,926
Ensembl chr15:89,103,731...89,115,074 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:30121012 PMID:25556186 RGD:155631306, RGD:155641231 NCBI chr11:95,913,610...95,923,392
Ensembl chr11:95,913,610...95,923,392 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:157,699,611...160,674,549
Ensembl chr 1:159,974,017...160,674,549 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:100,691,540...100,793,227
Ensembl chr13:100,692,953...100,792,856 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:26971374 PMID:17097601 RGD:12801424 NCBI chr 6:111,435,170...111,457,646
Ensembl chr 6:111,435,170...111,456,946 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:120,760,057...120,776,149
Ensembl chr 9:120,763,386...120,776,097 		JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
cleft palate, cardiac defects, and intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies | ClinVar Annotator: match by term: MEIS2-related disorder
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr 3:123,197,066...123,399,002
Ensembl chr 3:123,197,066...123,397,751 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 1:162,196,995...162,209,563
Ensembl chr 1:162,197,653...162,209,563 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 5:154,066,436...154,121,913
Ensembl chr 5:154,065,543...154,121,775 		JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 8:101,964,318...102,047,022
Ensembl chr 8:101,964,318...102,047,022 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:124,672,677...124,761,741
Ensembl chr 8:124,674,986...124,761,469 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule-associated protein, RP/EB family, member 2 ISO ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 More... NCBI chr18:15,303,502...15,444,306
Ensembl chr18:15,303,533...15,442,796 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo-type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: CAMPTODACTYLY, CLEFT PALATE, AND CLUBFOOT | ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:20813920 PMID:24155313 PMID:24726473 More... NCBI chr18:58,738,734...59,115,252
Ensembl chr18:58,738,740...59,115,215 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO
ISS 		DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
OMIM:604292
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse) 		CTD
ClinVar
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alx1 ALX homeobox 1 ISO
ISS 		ClinVar Annotator: match by term: ALX1-related condition
OMIM:613456 		OMIM
ClinVar
MouseDO		 PMID:24467814 PMID:25741868 PMID:28492532 NCBI chr 7:40,044,185...40,063,778
Ensembl chr 7:40,033,676...40,063,778 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:70,444,615...70,467,780
Ensembl chr  X:70,444,705...70,467,708 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 Fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Hartsfield-Bixler-Demyer syndrome OMIM
ClinVar		 PMID:1456217 PMID:7795583 PMID:7874169 PMID:10861678 PMID:10942429 More... NCBI chr16:73,194,631...73,249,855
Ensembl chr16:73,194,631...73,249,855 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 2:212,744,626...212,816,710
Ensembl chr 2:212,755,803...212,986,729 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr14:33,360,027...33,408,604
Ensembl chr14:33,360,028...33,408,516 		JBrowse link
G Satb2 SATB homeobox 2 ISS
ISO 		OMIM:119540
ClinVar Annotator: match by term: Isolated cleft palate 		MouseDO
ClinVar		 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 9:65,842,351...66,028,569
Ensembl chr 9:65,844,570...66,021,238 		JBrowse link
Kapur Toriello Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin-dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr18:56,648,779...56,711,505
Ensembl chr18:56,649,025...56,711,504 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:28,657,308...28,694,976
Ensembl chr20:28,657,308...28,694,526 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr14:81,211,800...81,227,215
Ensembl chr14:81,211,800...81,227,209 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr15:19,392,212...19,525,278
Ensembl chr15:19,392,216...19,525,209 		JBrowse link
G Gzf1 GDNF-inducible zinc finger protein 1 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 NCBI chr 3:156,572,152...156,584,369
Ensembl chr 3:156,572,250...156,584,363 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome ClinVar PMID:25741868 NCBI chr 4:82,586,505...82,589,209
Ensembl chr 4:82,586,505...82,589,209 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Bilateral microtia-deafness-cleft palate syndrome | ClinVar Annotator: match by term: Microtia with or without hearing impairment
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 4:82,593,389...82,597,589
Ensembl chr 4:82,593,389...82,595,692 		JBrowse link
MUGGENTHALER-CHOWDHURY-CHIOZA SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Muggenthaler-Chowdhury-Chioza syndrome ClinVar
OMIM		 PMID:25741868 PMID:26633546 PMID:28081210 PMID:34906488 NCBI chr 8:117,121,802...117,125,494
Ensembl chr 8:117,121,787...117,125,493 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Skin creases, multiple benign ring-shaped, of limbs ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr20:2,917,577...2,921,726
Ensembl chr20:2,917,539...2,921,726 		JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 4:67,727,145...67,809,092
Ensembl chr 4:67,727,145...67,809,092 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr 7:65,227,151...65,235,884
Ensembl chr 7:65,228,352...65,235,878 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculomaxillofacial dysostosis | ClinVar Annotator: match by term: Oculomaxillofacial dysplasia with oblique facial clefts 		OMIM
CTD
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr20:13,337,399...13,443,080
Ensembl chr20:13,339,108...13,443,079 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO
ISS 		ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I
OMIM:300000
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chr  X:27,678,248...28,053,049
Ensembl chr  X:27,681,867...27,906,105 		JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl1 ADAMTS-like 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 5:105,010,471...105,965,792
Ensembl chr 5:105,010,464...105,964,394 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr19:2,152,961...2,312,140
Ensembl chr19:2,154,840...2,312,140 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 7:130,977,561...131,006,627
Ensembl chr 7:130,977,561...131,006,627 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 2:52,533,939...52,610,980
Ensembl chr 2:52,533,939...52,610,980 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 3:169,417,890...169,419,810
Ensembl chr 3:169,416,945...169,419,975 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:88,500,086...88,535,474
Ensembl chr 1:88,500,087...88,535,305 		JBrowse link
G Nipbl NIPBL, cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:59,126,676...59,314,841
Ensembl chr 2:59,126,676...59,293,277 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr10:53,398,852...53,597,595
Ensembl chr10:53,398,852...53,584,060 		JBrowse link
G Pvr PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:88,689,235...88,704,641
Ensembl chr 1:88,688,981...88,704,630 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 9:23,661,278...23,990,248
Ensembl chr 9:23,664,952...23,990,027 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chr 8:112,298,158...112,370,912
Ensembl chr 8:112,298,369...112,370,908 		JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 6:46,845,571...46,923,209
Ensembl chr 6:46,846,029...46,923,209 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:18414213 PMID:23975875 PMID:25589632 PMID:25741868 PMID:27869827 More... NCBI chr 3:82,059,648...82,332,130
Ensembl chr 3:82,059,648...82,332,171 		JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:25741868 NCBI chr 9:68,572,901...68,602,803
Ensembl chr 9:68,572,911...68,602,890 		JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11 		OMIM
CTD
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr15:22,098,191...22,113,145
Ensembl chr15:22,098,470...22,105,172 		JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15 OMIM
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chr10:80,581,878...80,587,272
Ensembl chr10:80,582,303...80,587,294 		JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Orofacial cleft 5 		OMIM
CTD
ClinVar		 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... NCBI chr14:77,185,802...77,189,735
Ensembl chr14:77,185,802...77,189,735 		JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14757865 More... NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:52,998,662...53,086,664 		JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Orofacial cleft 8 OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:11462173 PMID:12161593 More... NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chr18:60,663,918...60,996,824
Ensembl chr18:60,663,970...60,996,824 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO
ISS 		ClinVar Annotator: match by term: Peters plus syndrome
OMIM:261540
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr12:10,291,910...10,383,190
Ensembl chr12:10,291,910...10,426,357 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chr 1:254,533,504...254,539,605
Ensembl chr 1:254,533,504...254,539,605 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO
ISS 		ClinVar Annotator: match by term: CLEFT LIP/PALATE, PARAMEDIAN MUCOUS CYSTS OF THE LOWER LIP, POPLITEAL PTERYGIUM, DIGITAL AND GENITAL ANOMALIES | ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 More... NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
G Ripk4 receptor-interacting serine-threonine kinase 4 ISO
ISS 		ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650 		ClinVar
MouseDO		 NCBI chr11:50,591,926...50,614,169
Ensembl chr11:50,591,936...50,614,169 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
CTD Direct Evidence: marker/mechanism
DNA:deletion, snps, missense mutations:multiple (human) 		OMIM
ClinVar
CTD
RGD		 PMID:2020859 PMID:9536098 PMID:12868469 PMID:14564151 PMID:17576681 More... RGD:11560486 NCBI chr12:20,940,654...20,999,072
Ensembl chr12:20,940,654...20,998,318 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate | ClinVar Annotator: match by term: Rapp-Hodgkin syndrome
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr11:88,343,647...88,554,543
Ensembl chr11:88,343,651...88,554,177 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Yap1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 8:13,380,551...13,451,640
Ensembl chr 8:13,380,551...13,451,437 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C13h1orf74 similar to human chromosome 1 open reading frame 74 ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr13:107,221,285...107,224,063
Ensembl chr13:107,221,335...107,224,845 		JBrowse link
G Cacna1e calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr13:69,125,048...69,613,795
Ensembl chr13:69,132,305...69,612,983 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISS
ISO 		OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 		MouseDO
ClinVar		 PMID:25741868 PMID:36901693 NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO
ISS 		ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1
OMIM:119300 | OMIM:606713
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
MouseDO
CTD		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr13:107,200,876...107,220,083
Ensembl chr13:107,200,731...107,220,049 		JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cfap57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 NCBI chr 5:137,359,787...137,433,472
Ensembl chr 5:137,359,653...137,436,733 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: GRHL3-related condition | ClinVar Annotator: match by term: Van der Woude syndrome 2
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 5:153,057,760...153,089,890
Ensembl chr 5:153,057,760...153,089,890 		JBrowse link
G Stpg1 sperm-tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:153,000,663...153,053,391
Ensembl chr 5:153,008,958...153,053,387 		JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbx22 T-box transcription factor 22 ISO
ISS 		OMIM:303400
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked 		OMIM
MouseDO
CTD
ClinVar		 PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More... NCBI chr  X:76,796,398...76,847,447
Ensembl chr  X:76,825,005...76,847,443 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    physical disorder 5216
      orofacial cleft 158
        CATIFA Syndrome 1
        CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
        cleft lip + 61
        cleft palate + 115
        oblique facial clefting 1 1
        orofacial cleft 1 13
        orofacial cleft 10 2
        orofacial cleft 11 1
        orofacial cleft 12 0
        orofacial cleft 13 0
        orofacial cleft 14 0
        orofacial cleft 15 1
        orofacial cleft 2 0
        orofacial cleft 3 0
        orofacial cleft 4 0
        orofacial cleft 5 1
        orofacial cleft 6 1
        orofacial cleft 7 + 1
        orofacial cleft 8 1
        orofacial cleft 9 0
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        Congenital Abnormalities 7954
          Musculoskeletal Abnormalities 3467
            Craniofacial Abnormalities 2788
              Maxillofacial Abnormalities 312
                Jaw Abnormalities 266
                  orofacial cleft 158
                    CATIFA Syndrome 1
                    CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME 1
                    cleft lip + 61
                    cleft palate + 115
                    oblique facial clefting 1 1
                    orofacial cleft 1 13
                    orofacial cleft 10 2
                    orofacial cleft 11 1
                    orofacial cleft 12 0
                    orofacial cleft 13 0
                    orofacial cleft 14 0
                    orofacial cleft 15 1
                    orofacial cleft 2 0
                    orofacial cleft 3 0
                    orofacial cleft 4 0
                    orofacial cleft 5 1
                    orofacial cleft 6 1
                    orofacial cleft 7 + 1
                    orofacial cleft 8 1
                    orofacial cleft 9 0
paths to the root