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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
For additional species annotation, visit the Alliance of Genome Resources.


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 COL4A3 collagen type IV alpha 3 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr2B:114,410,703...114,559,336
Ensembl chr2B:233,294,783...233,371,021
JBrowse link
G COL5A1 collagen type V alpha 1 chain ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr 9:105,746,388...105,956,280
Ensembl chr 9:134,342,955...134,544,651
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme adnatum ClinVar PMID:30311386 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593
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 OMIM 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 OMIM NCBI chr 4:93,447,095...93,770,339
Ensembl chr 4:104,113,520...104,435,394
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 OMIM NCBI chr 9:68,943,747...68,947,226 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 OMIM 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 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
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO OMIM 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 OMIM 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 ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: CLEFT LIP, CATARACT, TOOTH ABNORMALITY, IMPAIRED INTELLECTUAL DEVELOPMENT, FACIAL DYSMORPHISM, AND ATTENTION-DEFICIT HYPERACTIVITY DISORDER ClinVar PMID:27878435, PMID:31932796 NCBI chr 9:5,605,122...5,653,661
Ensembl chr 9:5,787,920...5,836,388
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM 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 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, PMID:25741868 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:28492532, PMID:29805042 RGD:1599548 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:30311386 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:53,000,582...53,058,054
Ensembl chr11:56,470,174...56,527,593
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Harelip 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 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 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 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 GJA1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868, PMID:30311386 NCBI chr 6:119,213,513...119,227,617 JBrowse link
G IRF6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD
ClinVar
RGD
PMID:12219090, PMID:17041601, PMID:18836445, PMID:20436469 RGD:1600214 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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr2B:89,461,773...89,493,879 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 TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Harelip ClinVar PMID:25741868 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794
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 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-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 OMIM 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 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 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 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 COL1A1 collagen type I alpha 1 chain ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr17:44,274,349...44,291,764
Ensembl chr17:49,150,677...49,166,677
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: Uranostaphyloschisis 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 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 JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:28492532, PMID:30311386 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: Uranostaphyloschisis ClinVar PMID:9596582, PMID:10819326, PMID:24033266, PMID:25485910, PMID:25741868, PMID:25741901, PMID:27108799, PMID:27513193, PMID:27668284, PMID:28087732, PMID:30194818, PMID:32963807 NCBI chr 1:490,415...596,826
Ensembl chr 1:1,647,340...1,701,614
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 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: Uranostaphyloschisis 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 DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
RGD
ClinVar
CTD
PMID:12219090, PMID:12920575, PMID:17041601, PMID:20672350, PMID:25741868 RGD:12436724, RGD:1600214 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 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 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 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: Uranostaphyloschisis ClinVar NCBI chr14:55,633,667...55,678,670
Ensembl chr14:74,478,387...74,522,320
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:60,331,945...60,713,729
Ensembl chr 1:61,938,945...62,526,753
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 CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 4:69,639,081...69,709,870
Ensembl chr 4:76,199,382...76,271,097
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 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:45,494,834...45,525,804
Ensembl chr 1:46,849,528...46,859,137
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 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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803, PMID:17377962, PMID:19170718, PMID:23925499, PMID:24301056, PMID:25741868, PMID:28492532, PMID:29023086, PMID:30311386 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 short stature 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 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:25741868 NCBI chr19:10,515,216...10,616,155
Ensembl chr19:11,250,006...11,334,952
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 JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
RGD
ClinVar
PMID:12374769, PMID:25741868 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: Uranostaphyloschisis 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 TGFBR2 transforming growth factor beta receptor 2 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:30311386 NCBI chr 3:30,536,187...30,623,653
Ensembl chr 3:30,854,460...30,938,856
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:141,159,657...141,201,018
Ensembl chr 1:144,944,105...144,989,794
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 TSPAN1 tetraspanin 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:11709191, PMID:12588800, PMID:15466003, PMID:16427280, PMID:17559086, PMID:17878207, PMID:17881266, PMID:17906881, PMID:19299310, PMID:22323514, PMID:23326386, PMID:25741868, PMID:26013959, PMID:28492532, PMID:30311386 NCBI chr 1:45,479,917...45,492,115
Ensembl chr 1:46,835,952...46,846,828
JBrowse link
G TTN titin ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868, PMID:30311386 NCBI chr2B:65,783,512...66,064,618 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 OMIM 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 OMIM 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 OMIM 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 CHD7 chromodomain helicase DNA binding protein 7 ISO ClinVar Annotator: match by term: Cleft velum ClinVar PMID:16400610, PMID:18414213, PMID:21158681, PMID:22461308, PMID:23024289, PMID:24368733, PMID:28492532, PMID:28832562, PMID:30311386 NCBI chr 8:57,091,002...57,282,471
Ensembl chr 8:58,816,840...58,945,186
JBrowse link
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 3:143,091,833...143,181,831
Ensembl chr 3:150,675,424...150,764,939
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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R318H (mouse)
RGD
ClinVar
CTD
PMID:10535733, PMID:10839977, PMID:11462173, PMID:12525544, PMID:12939657, PMID:15324320, PMID:16691622, PMID:18326838, PMID:18626511, PMID:18792980, PMID:19353588, PMID:19663851, PMID:19903181, PMID:20180707, PMID:20543567, PMID:21078104, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23463580, PMID:23775923, PMID:24734328, PMID:25741868, PMID:25983622, PMID:26380986, PMID:26882220, PMID:27028492, PMID:27798044, PMID:28293528, PMID:28492532, PMID:29620206 RGD:11070288, RGD:11568074, RGD:11568075, RGD:11568638, RGD:11568639 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 OMIM NCBI chr12:82,800,273...82,822,031
Ensembl chr12:85,902,113...85,923,774
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 OMIM 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 PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090, PMID:24728327, 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: Cleft palate, isolated ClinVar PMID:25326635, PMID:25533962, PMID:25741868, PMID:26596517, PMID:29023086, PMID:32581362 NCBI chr2B:86,518,043...86,720,212
Ensembl chr2B:204,406,887...204,599,539
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 OMIM 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 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 FLNB filamin B ISO OMIM 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 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 OMIM NCBI chr 7:27,745,138...27,747,129
Ensembl chr 7:27,344,469...27,346,789
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: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266, PMID:25741868 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: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394, PMID:8432414, PMID:8900242, PMID:10084586, PMID:11463381, PMID:25741868, PMID:27896077, PMID:28492532 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 OMIM 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 OMIM NCBI chr22:5,078,435...5,224,090
Ensembl chr22:21,943,630...22,089,686
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO OMIM 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 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: Orofacial cleft ClinVar PMID:2449335, PMID:12800196, PMID:20921021, PMID:22470475, PMID:23197654, PMID:24033266, PMID:24493355, PMID:24728327, PMID:25593300, PMID:25637381, PMID:25741868, PMID:25980754, PMID:26072394, PMID:26123647, PMID:26467025, PMID:26483394, PMID:26759166, PMID:27146957, PMID:27153395, PMID:27443514, PMID:27616075, PMID:27930734, PMID:27978560, PMID:28135145, PMID:28492532, PMID:28640387, PMID:28944238, PMID:29348693 NCBI chr16:49,108,745...49,206,347
Ensembl chr16:68,502,584...68,596,488
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 LOXHD1 lipoxygenase homology 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 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 DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human) RGD PMID:27229527 RGD:13831309 NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 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, PMID:28492532 NCBI chr10:13,277,804...13,300,115
Ensembl chr10:13,251,223...13,636,018
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
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 OMIM NCBI chr2B:89,461,773...89,493,879 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 OMIM 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 OMIM 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 OMIM 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 OMIM 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 OMIM NCBI chr 3:186,651,879...186,918,300
Ensembl chr 3:195,199,167...195,474,104
JBrowse link
PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAST calpastatin ISO OMIM 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
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 OMIM 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 OMIM 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:29584859 NCBI chr10:98,372,251...98,378,811
Ensembl chr10:101,844,792...101,853,916
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 OMIM 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
Popliteal Pterygium Syndrome, Lethal Type 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 OMIM 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 OMIM 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 OMIM 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 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 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 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 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 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 LOC100982859 patr class I histocompatibility antigen, B-2 alpha chain susceptibility ISO DNA:polymorphism:cds:HLA-B*5801 (human, Japanese)
CTD Direct Evidence: marker/mechanism
OMIM
RGD
CTD
PMID:15057820, PMID:15743917, PMID:16538176, PMID:18855540, PMID:19018717, PMID:19694795, PMID:19915237, PMID:20235791, PMID:20485159, PMID:21428768, PMID:25099164 RGD:7364874 NCBI chr 6:31,106,562...31,109,933
Ensembl chr 6:31,997,381...32,000,067
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 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 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 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
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 OMIM 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 ClinVar PMID:14618417 NCBI chr 1:185,354,702...185,361,089
Ensembl chr 1:190,163,274...190,164,083
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:25741868 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 OMIM 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 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 OMIM NCBI chr 1:23,519,911...23,558,105
Ensembl chr 1:24,502,294...24,547,152
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
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 OMIM 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 12770
    sensory system disease 4826
      mouth disease 709
        lip disease 171
          Hamartomatous Lip 0
          Herpes Labialis 0
          Lip Neoplasms + 3
          Phlebectasia of Lips 0
          cheilitis + 3
          cleft lip + 57
          orofacial cleft + 127
          stomatitis + 43
Path 2
Term Annotations click to browse term
  disease 12770
    disease of anatomical entity 12302
      nervous system disease 10063
        sensory system disease 4826
          mouth disease 709
            lip disease 171
              Hamartomatous Lip 0
              Herpes Labialis 0
              Lip Neoplasms + 3
              Phlebectasia of Lips 0
              cheilitis + 3
              cleft lip + 57
              orofacial cleft + 127
              stomatitis + 43
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.