Send us a Message



 Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap)  (beta) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer) Overgo Probe Designer
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease COVID-19 Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models PhenoMiner (Quantitative Phenotypes) Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes GERRC (Gene Editing Rat Resource Center) Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Poster Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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:Stomatognathic System Abnormalities
go back to main search page
Accession:DOID:9006733 term browser browse the term
Definition:Congenital structural abnormalities of the mouth and jaws, including the dentition.
Synonyms:exact_synonym: stomatognathic system abnormality
 primary_id: MESH:D018640


show annotations for term's descendants           Sort by:
Stomatognathic System Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20357738 NCBI chr 9:16,167,504...16,492,826
Ensembl chr 9:16,167,482...16,492,167 		JBrowse link
ablepharon macrostomia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Ablepharon macrostomia syndrome OMIM
ClinVar		 PMID:2036354 PMID:8746822 PMID:11038439 PMID:11807864 PMID:15103726 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		JBrowse link
Abruzzo-Erickson syndrome 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: Abruzzo-Erickson syndrome OMIM
ClinVar		 PMID:839509 PMID:22784330 PMID:25741868 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
ADULT 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: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar		 PMID:8456838 PMID:8737655 PMID:9443880 PMID:9536098 PMID:11462173 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 7:108,387,969...108,391,566
Ensembl chr 7:108,387,969...108,390,049 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr13:75,600,777...75,671,896
Ensembl chr13:75,601,706...75,670,866 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr20:10,438,737...10,499,074
Ensembl chr20:10,438,737...10,499,074 		JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623 		JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD		 PMID:8406474 RGD:1300370 NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426 		JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr12:26,828,738...26,834,762
Ensembl chr12:26,828,736...26,834,755 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:16484981 PMID:25741868 PMID:28492532 NCBI chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252 		JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase ISO DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr12:15,826,864...15,885,423
Ensembl chr12:15,826,871...15,884,543 		JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424 		JBrowse link
G Lamc2 laminin subunit gamma 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr13:65,284,664...65,344,200
Ensembl chr13:65,284,664...65,344,200 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta		 CTD
ClinVar		 PMID:25669657 PMID:35998423 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr12:26,882,524...26,905,084
Ensembl chr12:26,883,133...26,905,074 		JBrowse link
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
G Sp6 Sp6 transcription factor IMP RGD PMID:22676574 RGD:10047189 NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 OMIM
ClinVar		 PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 OMIM
ClinVar		 PMID:19853237 PMID:20938048 PMID:24033266 PMID:25741868 PMID:30028003 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 OMIM
ClinVar		 PMID:22901946 NCBI chr14:16,071,835...16,084,210
Ensembl chr14:16,073,058...16,080,129 		JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar		 PMID:23375655 PMID:24621671 PMID:25741868 NCBI chr 6:121,278,746...121,419,811
Ensembl chr 6:121,280,031...121,414,949 		JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin subunit beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A OMIM
ClinVar		 PMID:7550237 PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 More... NCBI chr13:104,833,810...104,875,405
Ensembl chr13:104,833,873...104,875,405 		JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872 		JBrowse link
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local ClinVar
OMIM
RGD		 PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C OMIM
ClinVar		 PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr14:19,556,729...19,581,433
Ensembl chr14:19,556,729...19,581,425 		JBrowse link
G Mmp20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 8:4,789,415...4,830,035
Ensembl chr 8:4,789,415...4,830,035 		JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 8:74,838,338...75,020,938
Ensembl chr 8:74,838,318...75,018,229 		JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar		 PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:25,076,362...25,087,660
Ensembl chr  X:25,076,362...25,087,660 		JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:24,953,464...25,490,003
Ensembl chr  X:24,953,464...25,488,663 		JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar		 PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr14:19,601,761...19,614,382
Ensembl chr14:19,601,702...19,614,393 		JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G OMIM
ClinVar		 PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr10:94,638,836...94,697,814
Ensembl chr10:94,642,850...94,697,672 		JBrowse link
G Prkar1a protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr10:94,621,042...94,639,534
Ensembl chr10:94,620,039...94,639,041 		JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H OMIM
ClinVar		 PMID:9189626 PMID:14970781 PMID:16838342 PMID:24305999 PMID:24319098 More... NCBI chr 3:45,046,295...45,170,532
Ensembl chr 3:45,048,044...45,121,671 		JBrowse link
amelogenesis imperfecta type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar		 PMID:25741868 PMID:27843125 PMID:28513613 NCBI chr 1:94,736,376...94,751,871
Ensembl chr 1:94,735,514...94,744,623 		JBrowse link
Amelogenesis Imperfecta Type 1K term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sp6 Sp6 transcription factor ISO OMIM NCBI chr10:82,005,518...82,009,699
Ensembl chr10:82,005,294...82,011,013 		JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein-related peptidase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 OMIM
ClinVar		 PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:25741868 More... NCBI chr 1:94,344,608...94,348,979
Ensembl chr 1:94,344,195...94,349,424 		JBrowse link
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 OMIM
ClinVar		 PMID:25741868 PMID:27693231 NCBI chr 6:120,135,620...120,166,089
Ensembl chr 6:120,135,436...120,166,089 		JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA OMIM
ClinVar		 PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr 7:107,716,431...107,724,619
Ensembl chr 7:107,716,431...107,728,672 		JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr14:19,648,624...19,661,181
Ensembl chr14:19,648,625...19,661,181 		JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT, TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c OMIM
ClinVar		 PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 1:155,206,976...155,224,609
Ensembl chr 1:155,206,976...155,214,196 		JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr10:80,064,489...80,069,891
Ensembl chr10:80,064,489...80,069,872 		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
DNA:missense mutations:exon:multiple
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD
RGD		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... RGD:11568643 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr10:93,893,830...93,927,042
Ensembl chr10:93,899,245...93,926,231 		JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr 1:228,381,521...228,385,202
Ensembl chr 1:228,381,521...228,385,202 		JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Irx5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr19:14,639,052...14,643,911
Ensembl chr19:14,624,225...14,642,318 		JBrowse link
G Itpa inosine triphosphatase ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 3:117,885,464...117,897,247
Ensembl chr 3:117,885,099...117,897,249 		JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:8696335 RGD:1600484 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:12605438 PMID:14571272 PMID:14607846 PMID:16236760 More... NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc25a21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:28492532 NCBI chr 6:74,203,439...74,702,902
Ensembl chr 6:74,203,440...74,702,680 		JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		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 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974 		JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar		 PMID:24913193 PMID:25741868 PMID:28396750 PMID:31581539 PMID:31655144 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human) 		OMIM
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prickle1 prickle planar cell polarity protein 1 ISS OMIM:268310 MouseDO NCBI chr 7:124,639,142...124,735,027
Ensembl chr 7:124,639,142...124,658,113 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly
CTD Direct Evidence: marker/mechanism
DNA:missense mutations:exons: c.545G>A (p.C182Y),c.227G>A (p.G76D), c.668G>A (p.C223Y)(human)
DNA:nonsense mutation:cds:p.W749X(mouse)		 OMIM
ClinVar
CTD
RGD		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:12815588 PMID:15952209 More... RGD:11537348, RGD:11537347, RGD:11535948 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr17:32,631,379...32,635,361
Ensembl chr17:32,633,142...32,634,803 		JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 ISS OMIM:180500 MouseDO NCBI chr 5:146,192,126...146,195,580
Ensembl chr 5:146,192,126...146,195,521 		JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 3:92,128,772...92,157,022
Ensembl chr 3:92,135,637...92,157,014 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:8944018 PMID:9536098 PMID:9685346 PMID:10051017 PMID:10490637 More... NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prdm5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 4:95,075,736...95,237,921
Ensembl chr 4:95,075,768...95,238,301 		JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bche butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 5:60,630,027...60,632,835
Ensembl chr 5:60,630,027...60,632,835 		JBrowse link
Barber-Say syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Twist2 twist family bHLH transcription factor 2 ISO ClinVar Annotator: match by term: Barber-Say syndrome OMIM
ClinVar		 PMID:1867254 PMID:8368246 PMID:9674915 PMID:16650233 PMID:19760652 More... NCBI chr 9:92,374,740...92,419,222
Ensembl chr 9:92,374,574...92,419,222 		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 OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr11:37,122,555...37,144,799
Ensembl chr11:37,122,565...37,144,799 		JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 2 OMIM
ClinVar		 PMID:25691407 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		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 chr 1:95,359,961...95,375,827
Ensembl chr 1:95,360,284...95,375,877 		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 chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546 		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 chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar		 PMID:2449335 PMID:8033105 PMID:8075649 PMID:9537325 PMID:11305955 More... NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		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 chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516 		JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome OMIM
ClinVar		 PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr 1:203,029,412...203,045,975
Ensembl chr 1:203,029,877...203,045,975 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome ClinVar PMID:28492532 NCBI chr 1:203,045,776...203,059,550
Ensembl chr 1:203,045,741...203,059,533 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-Carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chr 8:122,601,888...122,672,750
Ensembl chr 8:122,601,897...122,672,750 		JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Atrophodermia vermiculata | ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr 7:63,380,325...63,461,029
Ensembl chr 7:63,380,356...63,460,910 		JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymk myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 NCBI chr 3:10,388,361...10,397,364
Ensembl chr 3:10,388,361...10,397,343 		JBrowse link
Carey-Fineman-Ziter Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mymx myomixer, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 OMIM
ClinVar		 PMID:35642635 NCBI chr 9:15,396,638...15,398,264
Ensembl chr 9:15,397,144...15,398,263 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 ClinVar PMID:35642635 NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Catel Manzke syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kynu kynureninase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 3:27,778,646...27,929,470
Ensembl chr 3:27,778,772...27,929,488 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr15:95,174,607...95,195,577
Ensembl chr15:95,174,608...95,195,554 		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 1:227,285,510...227,384,553
Ensembl chr 1:227,285,210...227,382,863 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccm2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr14:81,418,418...81,464,114
Ensembl chr14:81,418,236...81,464,116 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr14:81,465,299...81,473,866
Ensembl chr14:81,465,299...81,473,781 		JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdcd10 programmed cell death 10 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 OMIM
ClinVar		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:17576681 More... NCBI chr 2:160,303,465...160,346,086
Ensembl chr 2:160,303,449...160,346,018 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr 2:160,346,403...160,433,135
Ensembl chr 2:160,346,758...160,433,135 		JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Snrpb small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Cerebro-costo-mandibular syndrome
DNA:missense mutations:CDS:multiple (human)		 OMIM
ClinVar
RGD		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... RGD:155641254 NCBI chr 3:117,369,816...117,379,344
Ensembl chr 3:117,370,100...117,379,339 		JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Add1 adducin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,108,643...76,167,267
Ensembl chr14:76,108,654...76,167,182 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,319,868...1,320,996
Ensembl chr14:1,319,868...1,321,013 		JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,184,638...1,216,392 JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
G Dgkq diacylglycerol kinase, theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,059,125...1,073,131
Ensembl chr14:1,059,170...1,073,131 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,665,444...75,699,413
Ensembl chr14:75,666,744...75,699,386 		JBrowse link
G Fam193a family with sequence similarity 193, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,250,103...76,382,525
Ensembl chr14:76,256,161...76,382,514 		JBrowse link
G Fam53a family with sequence similarity 53, member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,088,178...77,124,395
Ensembl chr14:77,090,723...77,124,395 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor-like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,009,863...1,022,620
Ensembl chr14:1,009,786...1,021,928 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,089,853...1,164,098
Ensembl chr14:1,089,866...1,216,398 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,998,554...76,080,808
Ensembl chr14:76,006,218...76,080,693 		JBrowse link
G Haus3 HAUS augmin-like complex, subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,580,549...76,599,542
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,707,588...75,714,182
Ensembl chr14:75,707,591...75,714,278 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,031,588...1,059,494
Ensembl chr14:1,032,171...1,046,522 		JBrowse link
G Letm1 leucine zipper and EF-hand containing transmembrane protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,942,647...76,982,220
Ensembl chr14:76,942,729...76,984,904 		JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,357,261...77,390,683
Ensembl chr14:77,357,264...77,390,671 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,103,762...76,107,385
Ensembl chr14:76,103,815...76,107,377 		JBrowse link
G Msantd1 Myb/SANT DNA binding domain containing 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,832,368...75,845,687
Ensembl chr14:75,835,380...75,844,183 		JBrowse link
G Mxd4 Max dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,562,105...76,576,224
Ensembl chr14:76,561,774...76,576,221 		JBrowse link
G Nat8l N-acetyltransferase 8-like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,756,077...76,762,712
Ensembl chr14:76,756,077...76,763,411 		JBrowse link
G Nelfa negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,808,920...76,832,998
Ensembl chr14:76,808,870...76,832,994 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,296,676...77,300,575
Ensembl chr14:77,296,796...77,300,036 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,081,318...76,102,454
Ensembl chr14:76,080,793...76,102,453 		JBrowse link
G Nsd2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,833,194...76,911,304
Ensembl chr14:76,835,637...76,913,641 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,237,594...1,291,717
Ensembl chr14:1,233,947...1,291,793 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,323,310...1,366,450
Ensembl chr14:1,323,310...1,366,450 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis, class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,404,911...1,433,199
Ensembl chr14:1,406,798...1,433,187 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,579,983...76,752,460
Ensembl chr14:76,580,546...76,752,463 		JBrowse link
G RGD1560394 RGD1560394 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,768,145...76,769,774
Ensembl chr14:76,768,146...76,773,575 		JBrowse link
G Rgs12 regulator of G-protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:75,715,925...75,824,012
Ensembl chr14:75,715,934...75,794,596 		JBrowse link
G Rit1 Ras-like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 2:174,180,742...174,195,455
Ensembl chr 2:174,180,848...174,195,455 		JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:949,397...988,377
Ensembl chr14:949,448...987,831 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,401,292...76,423,270
Ensembl chr14:76,401,299...76,422,566 		JBrowse link
G Sh3bp2 SH3-domain binding protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar
OMIM
RGD		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... RGD:1599339 NCBI chr14:76,176,097...76,213,331
Ensembl chr14:76,176,101...76,213,251 		JBrowse link
G Slbp stem-loop binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,071,441...77,081,911
Ensembl chr14:77,071,632...77,081,906 		JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,040,565...1,045,851
Ensembl chr14:1,040,243...1,045,849 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,305,091...1,319,723
Ensembl chr14:1,305,680...1,314,132 		JBrowse link
G Spon2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,505,695...77,518,001
Ensembl chr14:77,511,901...77,517,996 		JBrowse link
G Tacc3 transforming, acidic coiled-coil containing protein 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,051,209...77,065,343
Ensembl chr14:77,051,215...77,065,219 		JBrowse link
G Tmem129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,065,391...77,070,871
Ensembl chr14:77,065,841...77,070,865 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:1,073,410...1,089,764
Ensembl chr14:1,073,523...1,089,819 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,228,283...76,246,609
Ensembl chr14:76,228,371...76,275,265 		JBrowse link
G Uvssa UV-stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:77,309,188...77,351,922
Ensembl chr14:77,314,056...77,351,903 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr14:76,468,424...76,554,039
Ensembl chr14:76,468,424...76,554,039 		JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 2:210,164,813...210,302,069
Ensembl chr 2:210,164,813...210,302,069 		JBrowse link
G Adamts20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 ISO Cleft lip with or without cleft palate, ADAMTS20-related OMIA PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr 7:125,396,227...125,528,020
Ensembl chr 7:125,397,734...125,527,777 		JBrowse link
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 ClinVar
RGD		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495, RGD:13442497 NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate		 ClinVar
RGD		 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr19:34,492,371...34,561,775
Ensembl chr19:34,492,371...34,561,775 		JBrowse link
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:25741868 PMID:29805042 NCBI chr 3:69,683,328...69,734,550
Ensembl chr 3:69,683,313...69,734,516 		JBrowse link
G Esrp2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr19:34,034,559...34,041,726
Ensembl chr19:34,034,559...34,041,726 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr18:30,686,555...30,772,667
Ensembl chr18:30,686,581...30,772,357 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :rs13317 (human)		 CTD
RGD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 CTD
ClinVar
RGD		 PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090 RGD:1600214 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 3:148,998,111...149,000,031
Ensembl chr 3:148,998,122...149,000,031 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:25129243 PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfr methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)		 CTD
RGD		 PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 5:158,465,248...158,484,999
Ensembl chr 5:158,465,296...158,483,797 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787 		JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)		 RGD PMID:25339627 PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr10:52,899,933...53,098,591
Ensembl chr10:52,899,934...53,085,326 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 4:173,333,891...173,503,546
Ensembl chr 4:173,334,055...173,503,546 		JBrowse link
G Plekha7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft lip with or without cleft palate ClinVar PMID:29805042 NCBI chr 1:170,364,524...170,547,843
Ensembl chr 1:170,365,135...170,547,775 		JBrowse link
G Pomt1 protein-O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 3:15,520,717...15,538,579
Ensembl chr 3:15,520,481...15,538,581 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A(human)		 CTD
RGD		 PMID:21254359 PMID:18797703 RGD:11565176 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 CTD
ClinVar		 PMID:16990542 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:78,813,343...78,828,549
Ensembl chr14:78,813,343...78,828,489 		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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		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 chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787 		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:60,300,595...60,316,480
Ensembl chr  X:60,295,751...60,316,440 		JBrowse link
G Bhmt2 betaine-homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:24,895,525...24,912,475
Ensembl chr 2:24,895,533...24,912,475 		JBrowse link
G Bnc2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 5:98,679,071...99,079,742
Ensembl chr 5:98,687,410...99,079,426 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion		 CTD
RGD		 PMID:9787075 PMID:9787075 RGD:11576291 NCBI chr  X:8,899,500...9,243,014
Ensembl chr  X:8,899,833...9,238,694 		JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr19:33,049,162...33,092,752
Ensembl chr19:33,049,172...33,092,751 		JBrowse link
G Cdc42 cell division cycle 42 ISS MouseDO NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr 1:242,959,539...242,995,066
Ensembl chr 1:242,959,760...242,995,065 		JBrowse link
G Col11a2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)		 RGD PMID:20672350 PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr20:4,786,929...4,816,598
Ensembl chr20:4,786,929...4,815,985 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)		 CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr 7:129,098,489...129,127,620
Ensembl chr 7:129,098,786...129,127,546 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr11:68,911,883...69,103,230
Ensembl chr11:68,911,883...69,102,689 		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 6:138,839,175...139,155,554
Ensembl chr 6:138,839,177...139,155,536 		JBrowse link
G Egf epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:50,801,897...50,875,428
Ensembl chr 2:50,800,992...50,876,866 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 1:244,584,477...244,590,359
Ensembl chr 1:244,584,652...244,590,359 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:32,208,993...32,254,952
Ensembl chr15:32,210,074...32,253,309 		JBrowse link
G Fgfr1 Fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr 1:184,745,418...184,850,655
Ensembl chr 1:184,745,420...184,850,626 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:76,987,242...77,002,671
Ensembl chr14:76,987,993...77,003,341 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 PMID:15917206 More... NCBI chr  X:152,007,758...152,034,266
Ensembl chr  X:152,007,758...152,031,052 		JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr15:16,961,999...17,095,059
Ensembl chr15:16,962,003...17,095,006 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 1:143,280,065...143,288,799
Ensembl chr 1:143,280,065...143,285,724 		JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:2,188,121...2,219,532
Ensembl chr18:2,188,121...2,219,532 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 5:22,996,246...23,012,567
Ensembl chr 5:22,996,246...23,012,567 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr17:49,438,567...49,709,712
Ensembl chr17:49,438,567...49,709,712 		JBrowse link
G Gnb1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124 		JBrowse link
G Golgb1 golgin B1 ISS MouseDO NCBI chr11:63,843,179...63,900,665
Ensembl chr11:63,843,986...63,900,770 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 9:48,688,037...48,717,793
Ensembl chr 9:48,669,901...48,717,793 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO van der Woude syndrome, OMIM:119300
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
RGD		 PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr13:104,672,179...104,691,386
Ensembl chr13:104,672,179...104,691,386 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 1:133,639,487...133,658,539
Ensembl chr 1:133,640,065...133,658,576 		JBrowse link
G Meg3 maternally expressed 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:33812962 NCBI chr 6:128,491,808...128,524,010 JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr10:59,699,208...59,714,848
Ensembl chr10:59,699,585...59,714,835 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 RGD:5132609 NCBI chr14:72,961,170...72,964,970
Ensembl chr14:72,961,148...72,964,966 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 6:94,977,862...95,045,375
Ensembl chr 6:94,977,862...95,045,372 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 8:89,729,498...89,801,998
Ensembl chr 8:89,729,508...89,799,089 		JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr17:58,219,998...58,308,560
Ensembl chr17:58,220,071...58,304,822 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 7:93,593,705...93,598,633
Ensembl chr 7:93,593,705...93,598,630 		JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr10:69,753,082...69,782,450
Ensembl chr10:69,753,068...69,782,450 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 RGD PMID:10932188 RGD:1599795 NCBI chr 8:44,101,776...44,164,863
Ensembl chr 8:44,101,776...44,189,787 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,393,759...58,726,709
Ensembl chr18:58,393,509...58,723,137 		JBrowse link
G Nek9 NIMA-related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:104,944,056...104,984,538
Ensembl chr 6:104,944,056...104,984,538 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 6:74,186,749...74,203,508
Ensembl chr 6:74,182,568...74,203,506 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		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 chr10:83,387,113...83,399,357
Ensembl chr10:83,387,113...83,398,628 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis, class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr10:69,746,996...69,782,656
Ensembl chr10:69,748,789...69,790,475 		JBrowse link
G Pitx2 paired-like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 2:217,717,738...217,737,293
Ensembl chr 2:217,717,693...217,737,293 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISS MouseDO NCBI chr 1:95,458,853...95,468,176
Ensembl chr 1:95,458,850...95,468,345 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr17:1,542,705...1,607,730
Ensembl chr17:1,542,877...1,607,333 		JBrowse link
G Rarg retinoic acid receptor, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 7:133,367,833...133,390,301
Ensembl chr 7:133,367,833...133,390,177 		JBrowse link
G Ror2 receptor tyrosine kinase-like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr17:11,972,830...12,148,152
Ensembl chr17:11,972,830...12,148,152 		JBrowse link
G Ryk receptor-like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 8:103,419,348...103,492,083
Ensembl chr 8:103,419,275...103,491,698 		JBrowse link
G Satb2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate		 CTD
ClinVar		 PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 7:64,127,185...64,239,885
Ensembl chr 7:64,127,110...64,241,081 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 4:6,954,017...6,963,170
Ensembl chr 4:6,954,017...6,963,170 		JBrowse link
G Shox2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 2:151,217,049...151,227,180
Ensembl chr 2:151,217,552...151,227,143 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr11:33,414,218...33,453,663
Ensembl chr11:33,414,218...33,453,663 		JBrowse link
G Six2 SIX homeobox 2 ISS MouseDO NCBI chr 6:8,974,859...8,981,345
Ensembl chr 6:8,967,157...8,981,193 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr20:11,584,410...11,602,429
Ensembl chr20:11,584,411...11,601,972 		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 chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISS MouseDO NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr15:82,692,312...82,697,408
Ensembl chr15:82,692,143...82,698,009 		JBrowse link
G Sumo1 small ubiquitin-like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 9:61,078,790...61,108,697
Ensembl chr 9:61,077,435...61,108,761 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:30121012 PMID:25556186 RGD:155631306, RGD:155641231 NCBI chr11:82,409,275...82,419,058
Ensembl chr11:82,409,275...82,418,380 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate		 ClinVar
RGD		 PMID:25741868 PMID:12374769 RGD:724722 NCBI chr  X:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847 		JBrowse link
G Tgfb2 transforming growth factor, beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr13:98,160,075...98,261,771
Ensembl chr13:98,160,087...98,261,405 		JBrowse link
G Tgfb3 transforming growth factor, beta 3 ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:7493022 PMID:26971374 PMID:17097601 RGD:12801424 NCBI chr 6:105,704,058...105,726,661
Ensembl chr 6:105,704,236...105,726,564 		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 chr13:79,460,229...79,483,557
Ensembl chr13:79,460,135...79,483,555 		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 chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 9:113,313,454...113,329,551
Ensembl chr 9:113,313,452...113,329,536 		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:72,723,619...72,774,647
Ensembl chr  X:72,723,617...72,774,647 		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: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar		 PMID:24678003 PMID:25712757 PMID:25741868 PMID:27225850 PMID:28492532 More... NCBI chr 3:102,742,905...102,944,833
Ensembl chr 3:102,742,900...102,949,696 		JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrc32 leucine rich repeat containing 32 ISO ClinVar Annotator: match by term: Cleft palate, proliferative retinopathy, and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:30976112 NCBI chr 1:152,785,709...152,802,997
Ensembl chr 1:152,786,511...152,798,373 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdm1a lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 5:148,782,976...148,838,319
Ensembl chr 5:148,782,976...148,838,319 		JBrowse link
cleft palate-lateral synechia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISS OMIM:119550 MouseDO NCBI chr15:19,618,538...19,633,494
Ensembl chr15:19,618,542...19,623,306 		JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plod2 procollagen lysine, 2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:22689593 PMID:25238597 PMID:25741868 PMID:28492532 PMID:29177700 More... NCBI chr 8:93,084,548...93,167,255
Ensembl chr 8:93,084,513...93,167,255 		JBrowse link
G Tgfbr2 transforming growth factor, beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 8:115,794,537...115,883,615
Ensembl chr 8:115,794,537...115,883,228 		JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome OMIM
ClinVar		 PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 More... NCBI chr 9:1,447,444...1,459,771
Ensembl chr 9:1,447,447...1,459,771 		JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome		 CTD
ClinVar
RGD		 PMID:18414213 PMID:22426308 PMID:22426309 PMID:24033266 PMID:25741868 More... RGD:11526783 NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 1:180,013,969...180,028,829
Ensembl chr 1:180,020,656...180,028,841 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability		 CTD
ClinVar		 PMID:18414213 PMID:22426308 PMID:28512736 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome		 CTD
ClinVar		 PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:22426308 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22426308 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Coffin-Siris syndrome		 CTD
ClinVar		 PMID:25741868 PMID:26543203 NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25741868 NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES
ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12		 OMIM
ClinVar		 PMID:9536098 PMID:10361086 PMID:15057123 PMID:17576681 PMID:18414213 More... NCBI chr 1:45,567,991...45,923,644
Ensembl chr 1:45,563,623...45,923,493 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
G Smarca2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:224,191,125...224,358,640
Ensembl chr 1:224,191,125...224,358,684 		JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 NCBI chr17:35,667,809...35,672,515
Ensembl chr17:35,667,537...35,673,665 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcd1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr 7:130,829,783...130,840,323
Ensembl chr 7:130,829,768...130,840,323 		JBrowse link
Coffin-Siris syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chr 1:76,661,897...76,736,146
Ensembl chr 1:76,661,897...76,737,157 		JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:84,182,783...84,251,867
Ensembl chr 1:84,182,788...84,251,847 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 5:145,908,181...145,981,609
Ensembl chr 5:145,908,181...145,985,564 		JBrowse link
G Hr HR, lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 PMID:28492532 NCBI chr15:45,626,835...45,646,313
Ensembl chr15:45,626,835...45,646,313 		JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Derl3 derlin 3 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,754,490...12,768,454
Ensembl chr20:12,763,543...12,767,027 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr20:12,730,846...12,739,629
Ensembl chr20:12,730,836...12,739,628 		JBrowse link
G Smarcb1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 susceptibility ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar
OMIM		 PMID:9536098 PMID:11161377 PMID:17576681 PMID:22426308 PMID:22726846 More... NCBI chr20:12,741,164...12,763,616
Ensembl chr20:12,741,477...12,763,620 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr 8:20,167,717...20,258,975
Ensembl chr 8:20,167,717...20,258,975 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarce1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 OMIM
ClinVar		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr10:84,159,270...84,180,547
Ensembl chr10:84,159,275...84,179,989 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr 7:127,447,192...127,565,987
Ensembl chr 7:127,447,278...127,563,512 		JBrowse link
G Cacna1i calcium voltage-gated channel subunit alpha1 I ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 NCBI chr 7:111,835,996...111,947,418
Ensembl chr 7:111,836,012...111,944,688 		JBrowse link
G Frmpd4 FERM and PDZ domain containing 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 NCBI chr  X:25,853,849...26,814,642
Ensembl chr  X:25,853,934...26,814,637 		JBrowse link
G Kdm6b lysine demethylase 6B ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 NCBI chr10:54,120,716...54,142,212
Ensembl chr10:54,121,848...54,130,794 		JBrowse link
G Pde4d phosphodiesterase 4D ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 NCBI chr 2:40,014,933...41,529,190
Ensembl chr 2:40,019,933...41,525,884 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr 1:203,183,674...203,199,037
Ensembl chr 1:203,183,686...203,198,983 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 ClinVar PMID:25741868 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Smarcc2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr 7:881,844...910,090
Ensembl chr 7:881,421...909,978 		JBrowse link
Coffin-Siris syndrome 9 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: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM ClinVar PMID:25741868 NCBI chr  X:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 9 | ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chr 6:44,008,333...44,010,354
Ensembl chr 6:44,008,340...44,010,354 		JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar		 PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 1:200,001,261...200,005,187
Ensembl chr 1:200,001,261...200,005,187 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb5 tubulin, beta 5 class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar		 PMID:12239728 PMID:23246003 PMID:23324645 PMID:25741868 PMID:26637975 More... NCBI chr20:2,912,779...2,916,928
Ensembl chr20:2,912,778...2,916,940 		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 chr18:15,028,675...15,169,553
Ensembl chr18:15,029,041...15,168,044 		JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Igbp1 immunoglobulin binding protein 1 ISO ClinVar Annotator: match by term: Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome OMIM
ClinVar		 PMID:25741868 NCBI chr  X:65,582,832...65,605,078
Ensembl chr  X:65,582,821...65,606,049 		JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar		 PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408 		JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr CF transmembrane conductance regulator IMP RGD PMID:31942562 RGD:126928119 NCBI chr 4:46,561,269...46,728,759
Ensembl chr 4:46,560,885...46,728,756 		JBrowse link
G Cftrem1Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 1, Ang IMP RGD PMID:31942562 RGD:126928119
G Cftrem2Ang cystic fibrosis transmembrane conductance regulator; CRISPR/Cas9 induced mutant 2, Ang IMP RGD PMID:31942562 RGD:126928119
Dental Medial Diastema term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fig4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Diastema, dental medial ClinVar PMID:25741868 PMID:28492532 NCBI chr20:44,600,603...44,724,047
Ensembl chr20:44,600,603...44,723,844 		JBrowse link
G Rtn2 reticulon 2 ISO ClinVar Annotator: match by term: Diastema, dental medial ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 1:78,935,056...78,948,069
Ensembl chr 1:78,935,104...78,948,069 		JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN		 ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11116156 RGD:734904 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G Ssuh2 ssu-2 homolog ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr 4:145,502,942...145,521,881
Ensembl chr 4:145,503,185...145,521,735 		JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc2 SPARC related modular calcium binding 2 ISO ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth OMIM
ClinVar		 PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr 1:55,262,472...55,391,804
Ensembl chr 1:55,262,530...55,391,693 		JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta		 ClinVar
RGD		 PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... RGD:11571615 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Col1a2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:16705691 PMID:17078022 More... NCBI chr 4:32,563,938...32,598,868
Ensembl chr 4:32,563,381...32,598,867 		JBrowse link
G Dspp dentin sialophosphoprotein ISO mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Dentinogenesis imperfecta | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
DNA:snp:intron:g.87612175G>A (human)		 ClinVar
OMIM
RGD		 PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:16199547 More... RGD:734904, RGD:12910984 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)		 OMIM
ClinVar
RGD		 PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More... RGD:12911015 NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 SATB homeobox 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:33513338 PMID:34782754 NCBI chr 9:4,677,817...4,773,061
Ensembl chr 9:4,680,920...4,753,251 		JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar		 PMID:9536098 PMID:15941723 PMID:16175511 PMID:16199547 PMID:16628197 More... NCBI chr17:26,623,602...26,671,692
Ensembl chr17:26,623,588...26,671,800 		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: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chr18:56,468,449...56,844,984
Ensembl chr18:56,469,680...56,844,216 		JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:16545482 PMID:17538929 PMID:18716558 PMID:19195941 PMID:21670405 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:614258 PMID:21855841 PMID:22855961 PMID:25339210 PMID:25741868 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar
OMIM
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:62,224,763...62,269,344
Ensembl chr  X:62,228,229...62,269,268 		JBrowse link
G Loricrin loricrin cornified envelope precursor protein ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:25741868 NCBI chr 2:177,558,062...177,559,980
Ensembl chr 2:177,558,252...177,559,807 		JBrowse link
G Mvk mevalonate kinase ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:25741868 NCBI chr12:42,141,391...42,158,858
Ensembl chr12:42,141,384...42,158,882 		JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar
OMIM
RGD		 PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 More... RGD:1598883 NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant		 CTD
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Gcc2 GRIP and coiled-coil domain containing 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,247,394...26,293,613
Ensembl chr20:26,247,404...26,293,613 		JBrowse link
G Lims1 LIM zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr20:26,309,833...26,418,511
Ensembl chr20:26,309,895...26,418,500 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:10431242 PMID:11035039 PMID:15013427 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Slc5a7 solute carrier family 5 member 7 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,595,440...7,626,258
Ensembl chr 9:7,595,444...7,626,258 		JBrowse link
G Sult1c2a sulfotransferase family 1C member 2A ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:6,873,697...6,904,736
Ensembl chr 9:6,874,249...6,904,734 		JBrowse link
G Sult1c3 sulfotransferase family 1C member 3 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:10431241 PMID:10431242 PMID:18854857 PMID:20979233 PMID:28492532 More... NCBI chr 9:7,221,580...7,266,991
Ensembl chr 9:7,221,578...7,267,030 		JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr20:26,493,624...26,572,367
Ensembl chr20:26,495,235...26,572,376 		JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD		 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar		 PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar		 PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 More... NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ClinVar
OMIM		 PMID:27838789 NCBI chr 5:145,744,753...145,758,150
Ensembl chr 5:145,745,099...145,755,878 		JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar		 PMID:25741868 PMID:30425301 NCBI chr 1:202,655,322...202,657,030
Ensembl chr 1:202,655,322...202,657,030 		JBrowse link
ectodermal dysplasia and immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pd glucose-6-phosphate dehydrogenase ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 ClinVar PMID:25741868 NCBI chr  X:152,201,081...152,220,863
Ensembl chr  X:152,201,098...152,220,801 		JBrowse link
G Ikbkg inhibitor of nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:		 OMIM
ClinVar
RGD		 PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:152,216,485...152,241,476
Ensembl chr  X:152,216,596...152,239,499 		JBrowse link
ectodermal dysplasia and immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baz1a bromodomain adjacent to zinc finger domain, 1A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,389,701...72,512,516
Ensembl chr 6:72,389,703...72,512,459 		JBrowse link
G Cfl2 cofilin 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,355,664...72,359,709
Ensembl chr 6:72,355,664...72,359,674 		JBrowse link
G Fam177a1 family with sequence similarity 177, member A1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,632,587...72,647,052
Ensembl chr 6:72,632,623...72,647,553 		JBrowse link
G Nfkbia NFKB inhibitor alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 OMIM
ClinVar		 PMID:9536098 PMID:14523047 PMID:15337789 PMID:17576681 PMID:17931563 More... NCBI chr 6:72,858,713...72,861,941
Ensembl chr 6:72,858,712...72,861,941 		JBrowse link
G Ppp2r3c protein phosphatase 2, regulatory subunit B'', gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,647,025...72,670,885
Ensembl chr 6:72,647,025...72,672,491 		JBrowse link
G Prorp protein only RNase P catalytic subunit ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,669,659...72,762,419
Ensembl chr 6:72,670,847...72,762,416 		JBrowse link
G Psma6 proteasome 20S subunit alpha 6 ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,765,534...72,796,554
Ensembl chr 6:72,765,473...72,796,554 		JBrowse link
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 ClinVar PMID:28492532 NCBI chr 6:72,587,582...72,645,154
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 susceptibility ISO DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A) 		ClinVar
CTD
OMIM
RGD		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:missense mutation:exon:p.R318H (mouse)		 CTD
ClinVar
RGD		 PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075, RGD:11568074 NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398 		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:27324866 PMID:28492532 NCBI chr 7:38,157,626...38,177,220
Ensembl chr 7:38,147,117...38,177,220 		JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 ANTXR cell adhesion molecule 1 susceptibility ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: GAPO syndrome		 CTD
OMIM
ClinVar
RGD		 PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 4:119,590,770...119,778,232
Ensembl chr 4:119,590,771...119,778,232 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis OMIM
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976 		JBrowse link
gingival fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11868160 RGD:1580011 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995 		JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 ClinVar PMID:28492532 PMID:28686854 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 OMIM
ClinVar		 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
gingival fibromatosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, HEREDITARY, 5 | ClinVar Annotator: match by term: Fibromatosis, gingival, 5 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions
DNA:missense mutations:exon:p.C356R, p.C356G (human)
DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)		 OMIM
ClinVar
RGD		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... RGD:11570566, RGD:11570556 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		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:66,404,622...66,427,772
Ensembl chr  X:66,404,760...66,428,387 		JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:9536098 PMID:12402331 PMID:16086329 PMID:16088892 More... NCBI chr 4:30,507,530...30,519,109
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9536098 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 4:154,414,332...154,426,954
Ensembl chr 4:154,414,849...154,426,952 		JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 9:14,258,145...14,270,335
Ensembl chr 9:14,258,145...14,270,303 		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 OMIM
ClinVar		 PMID:15605412 PMID:16757108 PMID:16764984 PMID:19504604 PMID:20536592 More... NCBI chr16:66,492,445...66,546,731
Ensembl chr16:66,494,042...66,547,350 		JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia		 MouseDO
ClinVar
RGD		 PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:65,078,454...65,480,172
Ensembl chr  X:65,078,673...65,480,172 		JBrowse link
G Edar ectodysplasin-A receptor ISS
ISO		 OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 MouseDO
ClinVar		 PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,587,836...26,666,543
Ensembl chr20:26,587,839...26,666,494 		JBrowse link
G Edaradd EDAR associated via death domain IAGP
ISO		 DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia		 ClinVar
RGD		 PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr17:85,866,629...85,910,612
Ensembl chr17:85,656,905...85,910,447 		JBrowse link
G EdaraddswhKyo EDAR-associated death domain;swh Kyo mutant IAGP RGD PMID:22013926 RGD:14398762
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr20:26,442,156...26,493,481
Ensembl chr20:26,442,217...26,493,481 		JBrowse link
G Traf6 TNF receptor associated factor 6 ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 3:87,963,517...87,988,316
Ensembl chr 3:87,963,514...87,983,507 		JBrowse link
G Wnt10a Wnt family member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr 9:76,349,931...76,362,400
Ensembl chr 9:76,349,931...76,362,400 		JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polg DNA polymerase gamma, catalytic subunit ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome ClinVar PMID:16545482 PMID:17538929 PMID:18716558 PMID:19195941 PMID:21670405 More... NCBI chr 1:133,382,764...133,399,578
Ensembl chr 1:133,382,766...133,398,567 		JBrowse link
G Polr3a RNA polymerase III subunit A ISO ClinVar Annotator: match by term: 4h syndrome | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy OMIM
ClinVar		 PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr16:49,178...88,178
Ensembl chr16:49,521...88,172 		JBrowse link
G Polr3b RNA polymerase III subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy		 CTD
ClinVar		 PMID:22036171 PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 More... NCBI chr 7:19,039,179...19,142,450
Ensembl chr 7:19,038,552...19,142,598 		JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr16:89,538...94,267
Ensembl chr16:89,604...94,279 		JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar		 PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr14:77,455,580...77,482,821
Ensembl chr14:77,455,696...77,482,821 		JBrowse link
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sobp sine oculis binding protein homolog ISO ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr20:46,482,265...46,661,452
Ensembl chr20:46,482,765...46,663,541 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arhgap29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 2:210,060,036...210,132,572
Ensembl chr 2:210,071,199...210,132,028 		JBrowse link
G Grhl3 grainyhead-like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 5:147,774,160...147,806,338
Ensembl chr 5:147,774,160...147,806,160 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chr14:33,005,838...33,054,347
Ensembl chr14:33,005,839...33,054,335 		JBrowse link
G Satb2 SATB homeobox 2 ISS
ISO		 OMIM:119540
ClinVar Annotator: match by term: Isolated cleft palate		 MouseDO
ClinVar		 PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chr 9:58,348,027...58,534,256
Ensembl chr 9:58,350,246...58,530,707 		JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar		 PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 9:38,711,726...38,750,942
Ensembl chr 9:38,711,710...38,750,942 		JBrowse link
Jaw Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Otx2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12183386 NCBI chr15:21,942,233...21,953,034
Ensembl chr15:21,943,191...21,953,416 		JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:214,837,847...215,267,626
Ensembl chr 1:214,837,927...215,267,600 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:95,025,462...95,041,559
Ensembl chr 1:95,025,499...95,036,465 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr 4:58,344,101...58,372,828
Ensembl chr 4:58,343,529...58,373,829 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 9:105,533,116...105,567,525
Ensembl chr 9:105,533,136...105,567,479 		JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acsf3 acyl-CoA synthetase family member 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,835,116...50,875,557
Ensembl chr19:50,835,221...50,875,553 		JBrowse link
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies
DNA:deletions, SNPs:CDS:multiple (human)
DNA:mutations:CDS:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 More... RGD:11068938, RGD:11086621 NCBI chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Aprt adenine phosphoribosyl transferase ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,626,436...50,628,404
Ensembl chr19:50,626,202...50,628,431 		JBrowse link
G Cbfa2t3 CBFA2/RUNX1 partner transcriptional co-repressor 3 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,679,897...50,750,028
Ensembl chr19:50,680,729...50,749,610 		JBrowse link
G Cdh15 cadherin 15 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 PMID:31690835 NCBI chr19:50,903,757...50,927,151
Ensembl chr19:50,903,638...50,927,105 		JBrowse link
G Cdk10 cyclin-dependent kinase 10 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,260,012...51,273,009
Ensembl chr19:51,261,356...51,269,078 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31690835 NCBI chr19:50,620,713...50,625,659
Ensembl chr19:50,620,713...50,625,659 		JBrowse link
G Chmp1a charged multivesicular body protein 1A ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,238,153...51,246,433
Ensembl chr19:51,238,160...51,246,436 		JBrowse link
G Cpne7 copine 7 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:28492532 PMID:31602316 NCBI chr19:51,164,316...51,182,677
Ensembl chr19:51,166,034...51,182,677