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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:lip disease
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Accession:DOID:9297 term browser browse the term
Definition:A mouth disease located_in the lip. (DO)
Synonyms:exact_synonym: disease of lips;   lip diseases
 primary_id: MESH:D008047
 xref: ICD10CM:K13.0;   ICD9CM:528.5;   NCI:C26818


show annotations for term's descendants           Sort by:
Actinic Cheilitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		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 chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
aphthous stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HFE homeostatic iron regulator ISO DNA:missense mutation: :p.H63D (human) RGD PMID:28950260 RGD:14746964 NCBI chr 6:25,921,663...25,930,852
Ensembl chr 6:26,580,358...26,588,591 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959 		JBrowse link
G IL10 interleukin 10 ISO DNA:SNP:promoter:-1082G>A (rs1800896) (human) RGD PMID:27266194 RGD:14975145 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase severity ISO DNA:missense mutation:cds:677C>T (rs1801133) (human) RGD PMID:23665953 RGD:10449402 NCBI chr 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO DNA:SNP:promoter:-509T>C (human) RGD PMID:27266194 RGD:14975145 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		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:30904718 PMID:33963760 NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394 		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:67,093,675...67,231,318
Ensembl chr  X:77,255,312...77,342,756 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr16:2,645,445...2,800,975
Ensembl chr16:3,820,519...3,974,206 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr 9:40,898,593...40,911,159
Ensembl chr 9:83,324,238...83,336,756 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr12:113,531,181...113,850,854
Ensembl chr12:116,909,244...117,065,649 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr 3:10,077,630...10,089,499
Ensembl chr 3:10,430,143...10,440,234 		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 3:162,794,184...162,858,574
Ensembl chr 3:170,845,494...170,911,481 		JBrowse link
G FOXE1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chr 9:68,943,747...68,947,226 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 ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		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 chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918 		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:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr19:46,831,190...46,853,367
Ensembl chr19:55,747,722...55,765,942 		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 chr12:34,808,575...34,816,324
Ensembl chr12:35,596,821...35,604,560 		JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:129,654,296...129,656,446 JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794 		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 ClinVar
OMIM		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		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 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		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 OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 9:5,449,982...5,598,891
Ensembl chr 9:5,633,779...5,779,884 		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 1:96,659,703...96,784,876
Ensembl chr 1:95,386,266...95,514,589 		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 chr12:45,178,058...45,369,042
Ensembl chr12:46,046,555...46,236,676 		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 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:polymorphism:cds:p.V152A(human)		 RGD
ClinVar		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495 RGD:13442497 NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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		 RGD
ClinVar		 PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More... RGD:1599548 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		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 chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593 		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 chr16:48,603,753...48,611,869
Ensembl chr16:67,995,769...68,005,829 		JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 5:137,949,100...138,054,553
Ensembl chr 5:144,056,387...144,078,001 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:92,767,401...92,785,955 JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:28492532 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183 PMID:25129243 RGD:12910961 RGD:12910962 NCBI chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		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 1:10,548,196...10,568,174
Ensembl chr 1:11,766,334...11,785,419 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: : rs227727 (human)
DNA:SNP: :rs227731(human)		 RGD PMID:25339627 PMID:25704602 RGD:11251786 RGD:12801482 NCBI chr17:50,669,186...50,671,081
Ensembl chr17:55,532,394...55,533,092 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr17:42,409,797...42,631,930
Ensembl chr17:47,152,225...47,368,134 		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 chr12:19,132,418...19,377,981
Ensembl chr12:19,518,125...19,762,056 		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 chr11:16,861,464...17,095,610
Ensembl chr11:16,555,368...16,647,075 		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 9:102,625,290...102,646,066
Ensembl chr 9:131,265,750...131,285,881 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:93,118,379...93,230,803
Ensembl chr 8:95,314,910...95,428,519 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO DNA:SNP: :80G>A (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:18797703 PMID:21254359 RGD:11565176 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr22:11,635,107...11,655,137
Ensembl chr22:29,435,517...29,455,494 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		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:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		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:53,309,868...53,331,151
Ensembl chr  X:63,396,392...63,399,802 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:36,223,429...36,242,187
Ensembl chr 5:36,670,854...36,728,993 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 9:16,230,704...16,684,863
Ensembl chr 9:16,733,344...17,182,609 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9787075 RGD:11576291 NCBI chr  X:33,967,329...34,374,385
Ensembl chr  X:41,659,295...42,066,570 		JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr16:47,373,543...47,446,783 JBrowse link
G CDC42 cell division cycle 42 ISO MouseDO NCBI chr 1:21,245,970...21,286,210 JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr10:96,794,228...96,835,449
Ensembl chr10:100,280,490...100,316,918 		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 chr 6:32,734,950...32,765,837
Ensembl chr 6:33,849,885...33,879,635 		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 chr12:40,726,137...40,757,690 JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr 3:194,386,263...194,648,015
Ensembl chr 3:204,323,724...204,584,987 		JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:22,228,345...22,585,681
Ensembl chr 7:21,540,932...21,897,485 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 4:102,410,724...102,509,691
Ensembl chr 4:112,977,565...113,076,460 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:115,005,136...115,076,369
Ensembl chr 4:126,149,813...126,214,942 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:64,905,658...64,915,175
Ensembl chr11:68,197,962...68,207,042 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:28,378,339...28,442,800
Ensembl chr15:46,702,119...46,770,163 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:2,967,713...3,000,554
Ensembl chr13:21,273,333...21,307,198 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr10:118,055,854...118,175,440
Ensembl chr10:121,469,735...121,588,815 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		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:143,799,088...143,825,282 JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:81,973,680...82,007,733
Ensembl chr11:85,611,989...85,616,065 		JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:15,411,764...15,444,402 JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:92,767,401...92,785,955 JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr 7:42,004,965...42,280,772
Ensembl chr 7:42,056,565...42,322,865 		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 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614 		JBrowse link
G GOLGB1 golgin B1 ISO MouseDO NCBI chr 3:118,765,467...118,852,005
Ensembl chr 3:125,673,966...125,760,584 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:25741868 NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr2B:77,652,045...77,680,013
Ensembl chr2B:195,569,417...195,597,898 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:12920575 PMID:25741868 NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:68,312,064...68,349,864
Ensembl chr15:87,529,290...87,553,445 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,375,414...2,392,423 JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations, SNPs:multiple (human)		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 Ensembl chr 4:4,935,600...4,939,079 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 chr14:44,969,573...45,041,296
Ensembl chr14:63,223,484...63,293,881 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:58,810,966...58,864,831
Ensembl chr15:77,770,216...77,822,206 		JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:212,353,195...212,463,304
Ensembl chr 1:217,358,050...217,460,946 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:124,387,561...124,393,551
Ensembl chr 8:127,131,512...127,136,863 		JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,546,652...20,586,131
Ensembl chr17:20,840,913...20,880,242 		JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:142,577,334...142,600,702
Ensembl chr 7:154,730,009...154,755,233 		JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr14:17,114,975...17,431,786
Ensembl chr14:35,771,454...35,791,697 		JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30345601 NCBI chr17:17,600,824...17,617,757
Ensembl chr17:17,817,718...17,834,630 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr17:20,542,694...20,547,347
Ensembl chr17:20,837,769...20,839,283 		JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 4:103,112,624...103,137,356 JBrowse link
G PRMT1 protein arginine methyltransferase 1 ISO MouseDO NCBI chr19:46,691,795...46,705,179
Ensembl chr19:55,610,938...55,623,135 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:66,542,675...66,616,820
Ensembl chr 9:94,668,365...94,741,453 		JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr12:35,521,276...35,542,814
Ensembl chr12:36,303,359...36,325,111 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 1:7,111,594...7,576,667
Ensembl chr 1:8,351,367...8,648,973 		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 chr 9:62,782,183...63,005,626
Ensembl chr 9:90,851,983...90,965,084 		JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 3:131,174,507...131,296,815 JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More... NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 8:93,118,379...93,230,803
Ensembl chr 8:95,314,910...95,428,519 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:147,400,112...147,414,036
Ensembl chr 7:159,114,666...159,126,651 		JBrowse link
G SHOX2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 3:155,138,969...155,149,619
Ensembl chr 3:163,190,284...163,199,239 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr21:23,060,640...23,109,496 JBrowse link
G SIX2 SIX homeobox 2 ISO MouseDO NCBI chr2A:45,109,414...45,113,887
Ensembl chr2A:46,039,582...46,044,035 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr21:31,836,774...31,883,829
Ensembl chr21:45,090,595...45,134,752 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:129,654,296...129,656,446 JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO MouseDO NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:61,569,658...61,574,817
Ensembl chr13:80,596,346...80,597,408 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:25556186 PMID:30121012 RGD:155631306 RGD:155641231 NCBI chr22:2,521,080...2,541,267 JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr11:73,712,808...75,001,831
Ensembl chr11:77,338,422...77,743,909 		JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr19:38,324,009...38,347,003
Ensembl chr19:46,831,659...46,852,973 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:193,907,398...194,005,800
Ensembl chr 1:198,758,751...198,859,041 		JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:17097601 PMID:26971374 RGD:12801424 NCBI chr14:56,516,697...56,542,097
Ensembl chr14:75,359,505...75,382,412 		JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:30755392 PMID:31102500 PMID:32214227 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794 		JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:34,321,121...34,355,020
Ensembl chr17:39,252,858...39,292,053 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:13,653,085...13,668,478
Ensembl chr18:17,295,182...17,310,320 		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:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity 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: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		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 chr11:71,708,222...71,721,426
Ensembl chr11:75,354,997...75,367,440 		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 1:22,205,624...22,269,571
Ensembl chr 1:23,153,066...23,217,692 		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 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:119570 MouseDO NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856 		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 TUBB tubulin beta 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 chr 6:30,465,367...30,470,451 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: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr18:28,201,711...28,367,813
Ensembl chr18:31,817,015...31,956,771 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:3,141,285...3,619,885
Ensembl chr18:5,407,467...5,882,928 		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 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr12:82,800,273...82,822,031
Ensembl chr12:85,902,113...85,923,774 		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 | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:60,386,820...60,410,730
Ensembl chr  X:70,443,667...70,466,942 		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: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chr 8:37,713,133...37,773,098
Ensembl chr 8:34,890,147...34,948,904 		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 1:96,835,259...96,910,999
Ensembl chr 1:95,561,933...95,640,214 		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 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		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 chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097 		JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539 		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 chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chr12:40,726,137...40,757,690 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 chr 5:145,644,164...145,714,143
Ensembl chr 5:151,649,062...151,719,373 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:68,427,305...68,476,512
Ensembl chr10:70,951,190...70,994,936 		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 chr 4:1,933,172...1,948,742
Ensembl chr 4:1,843,774...1,861,692 		JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr 3:57,943,263...58,107,115
Ensembl chr 3:59,359,234...59,521,989 		JBrowse link
lip cancer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL10 interleukin 10 ISO RGD PMID:26723902 RGD:14975265 NCBI chr 1:182,369,234...182,374,207
Ensembl chr 1:186,648,289...186,653,371 		JBrowse link
Lip Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDKN1A cyclin dependent kinase inhibitor 1A ISO RGD PMID:17238970 RGD:8662391 NCBI chr 6:36,241,405...36,250,032
Ensembl chr 6:37,436,990...37,445,599 		JBrowse link
G TP53 tumor protein p53 ISO RGD PMID:17238970 RGD:8662391 NCBI chr17:7,699,449...7,717,812
Ensembl chr17:7,684,922...7,706,120 		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: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chr 7:27,737,432...27,740,442
Ensembl chr 7:27,335,710...27,339,747 		JBrowse link
G HOXA2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789 		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 TUBB tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chr 6:30,465,367...30,470,451 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 7:130,665,997...130,758,537
Ensembl chr 7:143,154,712...143,218,802 		JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr19:6,393,407...6,578,234
Ensembl chr19:7,260,246...7,414,889 		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 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chr12:31,674,537...31,683,917
Ensembl chr12:31,928,955...31,936,251 		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 ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686 		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 ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:3,075,834...3,463,845
Ensembl chr  X:10,328,476...10,459,284 		JBrowse link
Oral Ulcer term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDN1 endothelin 1 ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 6:12,076,312...12,142,861
Ensembl chr 6:12,462,718...12,503,545 		JBrowse link
G HSPD1 heat shock protein family D (Hsp60) member 1 ISO associated with Behcet Syndrome;protein:increased expression:muccal mucosa: RGD PMID:20580281 RGD:12910477 NCBI chr2B:84,729,615...84,743,352
Ensembl chr2B:202,623,497...202,636,959 		JBrowse link
G LEP leptin ISO CTD Direct Evidence: therapeutic CTD PMID:16391412 NCBI chr 7:120,230,896...120,248,602
Ensembl chr 7:132,885,011...132,901,519 		JBrowse link
G STAT4 signal transducer and activator of transcription 4 ISO associated with Lupus Erythematosus, Systemic;DNA:SNP:intron:c.274-23582A>C (rs7574865) (human) RGD PMID:21719445 RGD:5147916 NCBI chr2B:78,331,402...78,549,231
Ensembl chr2B:196,247,881...196,366,011 		JBrowse link
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) RGD PMID:27229527 PMID:28543373 RGD:13831307 RGD:13831309 NCBI chr20:31,205,104...31,256,263
Ensembl chr20:32,329,721...32,380,526 		JBrowse link
G AXIN2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chr17:59,476,336...59,509,358
Ensembl chr17:64,688,416...64,720,086 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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 chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488 		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 3:135,525,035...135,625,533
Ensembl chr 3:142,974,810...143,228,835 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chr  X:143,799,088...143,825,282 JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:60,544,495...60,550,516 JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr12:33,154,530...33,168,427
Ensembl chr12:33,879,180...33,893,252 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association ISO DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr10:65,687,378...65,734,281
Ensembl chr10:68,220,475...68,267,321 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:39,756,531...39,936,317
Ensembl chr18:43,290,579...43,469,921 		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 chr12:12,121,411...12,288,590
Ensembl chr12:12,508,108...12,657,973 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr15:15,814,739...16,025,512
Ensembl chr15:34,072,665...34,282,477 		JBrowse link
G MSX1 msh homeobox 1 ISO 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 Ensembl chr 4:4,935,600...4,939,079 JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)		 RGD PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 NCBI chr22:17,200,623...17,305,826
Ensembl chr22:35,039,101...35,121,618 		JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr17:16,633,982...16,660,502
Ensembl chr17:16,860,400...16,884,946 		JBrowse link
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
G TFAP2A transcription factor AP-2 alpha ISO 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 chr 6:10,237,834...10,260,843 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 chr13:22,750,083...23,142,860
Ensembl chr13:41,339,379...41,729,661 		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 9:17,714,454...18,724,606
Ensembl chr 9:18,807,435...19,218,181 		JBrowse link
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr16:45,261,269...45,436,597
Ensembl chr16:64,367,862...64,475,028 		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 chr12:40,726,137...40,757,690 JBrowse link
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 5:65,979,443...66,069,314
Ensembl chr 5:71,028,187...71,111,706 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr20:37,023,988...37,027,446
Ensembl chr20:38,127,722...38,128,693 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:41,794,037...41,837,047
Ensembl chr19:50,399,668...50,443,024 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 5:73,306,527...73,491,367
Ensembl chr 5:78,585,649...78,698,184 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr17:42,409,797...42,631,930
Ensembl chr17:47,152,225...47,368,134 		JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:41,592,042...41,614,397
Ensembl chr19:50,196,980...50,217,006 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 6:45,003,962...45,133,148
Ensembl chr 6:46,189,432...46,524,389 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chr 3:131,174,507...131,296,815 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 chr2A:9,834,385...9,927,129
Ensembl chr2A:9,996,146...10,087,740 		JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chr2B:65,783,512...66,064,618 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 chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10 OMIM
ClinVar		 NCBI chr2B:89,461,773...89,493,879
Ensembl chr2B:207,613,654...207,645,590 		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 ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: Orofacial cleft 11 OMIM
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr14:34,542,132...34,549,286
Ensembl chr14:52,821,872...52,828,752 		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: Orofacial cleft 15 OMIM
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chr17:44,055,326...44,061,687
Ensembl chr17:48,929,684...48,935,066 		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 ClinVar Annotator: match by term: Orofacial cleft 5 OMIM
ClinVar		 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... Ensembl chr 4:4,935,600...4,939,079 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:15317890 More... NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		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 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		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:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		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 chr18:51,428,077...51,792,995
Ensembl chr18:54,867,149...55,123,423 		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 ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chr13:12,475,095...12,601,818
Ensembl chr13:30,927,270...31,035,719 		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 chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916 		JBrowse link
PLACK syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads OMIM
ClinVar		 PMID:3527073 PMID:25683118 PMID:25741868 PMID:28492532 NCBI chr 5:91,972,572...92,084,657
Ensembl chr 5:97,527,071...97,636,650 		JBrowse link
G ERAP1 endoplasmic reticulum aminopeptidase 1 ISO ClinVar Annotator: match by term: Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads ClinVar PMID:3527073 PMID:25683118 NCBI chr 5:92,061,414...92,119,087
Ensembl chr 5:97,641,353...97,668,365 		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 ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr21:28,062,975...28,091,323
Ensembl chr21:41,389,654...41,417,472 		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 OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chr 7:311,468...394,623 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 OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104 		JBrowse link
Stevens-Johnson syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALB albumin ISO CTD Direct Evidence: therapeutic CTD PMID:12239465 NCBI chr 4:50,773,244...50,790,474
Ensembl chr 4:56,605,322...56,622,418 		JBrowse link
G APCS amyloid P component, serum ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:134,937,472...134,938,512
Ensembl chr 1:138,734,046...138,735,093 		JBrowse link
G C1QA complement C1q A chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:21,821,927...21,825,020 JBrowse link
G C1QC complement C1q C chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:21,828,969...21,833,518
Ensembl chr 1:22,770,582...22,782,176 		JBrowse link
G CAV1 caveolin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:108,497,125...108,533,090
Ensembl chr 7:121,193,424...121,229,655 		JBrowse link
G CELF2 CUGBP Elav-like family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr10:10,478,500...11,346,255
Ensembl chr10:10,793,682...11,330,504 		JBrowse link
G CFP complement factor properdin ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr  X:40,060,106...40,066,720
Ensembl chr  X:47,956,191...47,961,965 		JBrowse link
G CLU clusterin ISO mRNA:decreased expression:conjunctiva RGD PMID:12036968 RGD:8699507 NCBI chr 8:26,867,973...26,884,838
Ensembl chr 8:24,070,053...24,083,523 		JBrowse link
G COPS5 COP9 signalosome subunit 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:63,586,062...63,605,213
Ensembl chr 8:65,247,950...65,266,511 		JBrowse link
G CRP C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 1:135,062,102...135,064,402 JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: therapeutic CTD PMID:11321886 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G CTNNB1 catenin beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 3:41,104,940...41,145,934
Ensembl chr 3:41,373,726...41,414,030 		JBrowse link
G CUL1 cullin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:140,428,442...140,531,136
Ensembl chr 7:152,908,303...153,011,254 		JBrowse link
G CUL4A cullin 4A ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:94,350,484...94,409,183
Ensembl chr13:113,428,271...113,472,701 		JBrowse link
G DERL1 derlin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 8:119,707,397...119,736,502
Ensembl chr 8:122,463,063...122,492,137 		JBrowse link
G ELMO1 engulfment and cell motility 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 7:37,493,854...38,085,555 JBrowse link
G EP300 E1A binding protein p300 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:21,986,467...22,076,921
Ensembl chr22:40,079,503...40,168,604 		JBrowse link
G FBXO6 F-box protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:10,414,856...10,436,406
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837
Ensembl chr 1:11,643,009...11,654,837 		JBrowse link
G GSTM1 glutathione S-transferase mu 1 ISO RGD PMID:28689274 RGD:14700974 Ensembl chr 1:127,979,238...128,010,411 JBrowse link
G IFNG interferon gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr12:65,663,764...65,668,732
Ensembl chr12:68,448,861...68,453,829 		JBrowse link
G LBP lipopolysaccharide binding protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr20:34,670,128...34,703,046
Ensembl chr20:35,780,768...35,813,188 		JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736 		JBrowse link
G LOC100972994 HLA class II histocompatibility antigen, DQ beta 1 chain susceptibility ISO DNA:polymorphism:cds:HLA-DQB1*0601 (human) RGD PMID:8841298 RGD:7483570 NCBI chr 6:32,237,395...32,244,201
Ensembl chr 6:33,353,599...33,360,272 		JBrowse link
G LOC100982294 class I histocompatibility antigen, Gogo-C*0202 alpha chain ISO CTD Direct Evidence: marker/mechanism CTD PMID:19629158 NCBI chr 6:31,020,373...31,024,959
Ensembl chr 6:31,910,788...31,914,286 		JBrowse link
G LOC100982859 class I histocompatibility antigen, Gogo-B*0101 alpha chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphisms:cds:HLA-B*15:02, HLA-B*40:01, HLA-B*58:02 (human)
DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)		 CTD
RGD		 PMID:15057820 PMID:15743917 PMID:16538176 PMID:18855540 PMID:19018717 More... RGD:7364874 RGD:7365090 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067 		JBrowse link
G LRG1 leucine rich alpha-2-glycoprotein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr19:3,557,079...3,560,193
Ensembl chr19:4,504,704...4,507,790 		JBrowse link
G MIF macrophage migration inhibitory factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9372356 NCBI chr22:4,646,986...4,647,831
Ensembl chr22:22,730,807...22,732,009 		JBrowse link
G NEDD4 NEDD4 E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:34,798,880...34,963,823
Ensembl chr15:53,118,411...53,283,076 		JBrowse link
G NFKBIZ NFKB inhibitor zeta ISO MouseDO NCBI chr 3:98,914,957...98,948,467
Ensembl chr 3:105,616,645...105,628,300 		JBrowse link
G NOS2 nitric oxide synthase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10620138 NCBI chr17:28,984,295...29,021,516
Ensembl chr17:29,471,510...29,617,093 		JBrowse link
G NUCB1 nucleobindin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr19:45,900,098...45,923,056
Ensembl chr19:54,832,426...54,855,962 		JBrowse link
G ORM1 orosomucoid 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:85,421,254...85,424,659 JBrowse link
G ORM2 orosomucoid 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 9:85,428,024...85,431,421 JBrowse link
G PARP1 poly(ADP-ribose) polymerase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 1:201,820,355...201,867,673
Ensembl chr 1:206,812,981...206,860,356 		JBrowse link
G PML PML nuclear body scaffold ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr15:52,903,874...52,955,151
Ensembl chr15:71,658,884...71,710,883 		JBrowse link
G PROS1 protein S ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr 3:90,934,641...91,039,059
Ensembl chr 3:97,615,734...97,718,756 		JBrowse link
G PSMC5 proteasome 26S subunit, ATPase 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr17:57,906,934...57,911,551
Ensembl chr17:63,051,050...63,055,907 		JBrowse link
G PTGER3 prostaglandin E receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21966456 NCBI chr 1:70,076,610...70,271,475
Ensembl chr 1:72,059,441...72,254,063 		JBrowse link
G PTGIS prostaglandin I2 synthase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr20:45,841,238...45,905,641
Ensembl chr20:46,905,665...46,971,612 		JBrowse link
G RB1 RB transcriptional corepressor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr13:29,453,872...29,624,665
Ensembl chr13:48,155,795...48,324,575 		JBrowse link
G RBX1 ring-box 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr22:21,845,351...21,866,627
Ensembl chr22:39,941,405...39,962,175 		JBrowse link
G TNF tumor necrosis factor ISO protein:increased expression:blister: RGD PMID:9852250 RGD:7401184 NCBI chr 6:31,236,650...31,239,423
Ensembl chr 6:32,126,618...32,129,381 		JBrowse link
G VCP valosin containing protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:25811541 NCBI chr 9:34,907,147...34,923,227
Ensembl chr 9:35,712,937...35,729,588 		JBrowse link
G VWF von Willebrand factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:34142820 NCBI chr12:6,073,836...6,249,806
Ensembl chr12:5,990,612...6,165,153 		JBrowse link
stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAT catalase ISO RGD PMID:10569634 RGD:5130878 NCBI chr11:34,413,253...34,446,831
Ensembl chr11:34,289,603...34,323,160 		JBrowse link
G CSF3 colony stimulating factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12085204 NCBI chr17:17,271,074...17,273,493
Ensembl chr17:17,491,276...17,493,729 		JBrowse link
G LOC100968898 cytochrome b5 ISO RGD PMID:10406239 RGD:11352692 NCBI chr18:67,638,406...67,677,111
Ensembl chr18:70,919,617...70,957,732 		JBrowse link
G LOC100972354 interferon alpha-2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9234591 NCBI chr 9:21,245,017...21,246,210
Ensembl chr 9:21,863,062...21,863,736 		JBrowse link
G NBN nibrin ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr 8:86,622,797...86,674,202
Ensembl chr 8:88,575,198...88,626,307 		JBrowse link
G XRCC1 X-ray repair cross complementing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24594932 NCBI chr19:40,485,052...40,522,188
Ensembl chr19:49,094,014...49,125,520 		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 chr11:97,061,367...97,186,961
Ensembl chr11:100,552,424...100,681,301 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1H1orf74 chromosome 1 C1orf74 homolog ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr 1:185,354,702...185,361,089
Ensembl chr 1:190,163,274...190,164,083 		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 chr 1:156,796,855...157,296,987
Ensembl chr 1:160,628,089...160,949,270 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:25741868 PMID:36901693 NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 OMIM
ClinVar		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr 1:185,361,612...185,382,516
Ensembl chr 1:190,226,727...190,247,145 		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 1:42,470,987...42,556,101
Ensembl chr 1:43,848,369...43,933,279 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 OMIM
ClinVar		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152 		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 1:23,559,787...23,616,967
Ensembl chr 1:24,539,792...24,596,633 		JBrowse link
Vesicular Stomatitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EHMT2 euchromatic histone lysine methyltransferase 2 ISO CTD Direct Evidence: therapeutic CTD PMID:26418342 NCBI chr 6:31,542,946...31,560,894
Ensembl chr 6:32,429,271...32,451,844 		JBrowse link
G RIPK3 receptor interacting serine/threonine kinase 3 ameliorates ISO RGD PMID:25326752 RGD:127229916 NCBI chr14:5,112,512...5,116,486
Ensembl chr14:23,235,796...23,239,821 		JBrowse link
G STAT2 signal transducer and activator of transcription 2 exacerbates ISO RGD PMID:32759968 RGD:41789624 NCBI chr12:32,555,523...32,574,137
Ensembl chr12:32,808,586...32,827,732 		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 ClinVar Annotator: match by term: Cleft palate X-linked | ClinVar Annotator: match by term: Cleft palate with or without ankyloglossia, X-linked OMIM
ClinVar		 PMID:839509 PMID:14729838 PMID:16247549 PMID:17868388 PMID:22784330 More... NCBI chr  X:69,070,218...69,087,243
Ensembl chr  X:79,177,534...79,198,782 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Stomatognathic Diseases 1301
      mouth disease 978
        lip disease 213
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 59
          orofacial cleft + 153
          stomatitis + 59
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sensory system disease 6626
            mouth disease 978
              lip disease 213
                Hamartomatous Lip 0
                Herpes Labialis 0
                Lip Neoplasms + 3
                Phlebectasia of Lips 0
                cheilitis + 3
                cleft lip + 59
                orofacial cleft + 153
                stomatitis + 59
paths to the root