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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:Jaw Diseases
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Accession:DOID:9003876 term browser browse the term
Definition:Diseases involving the JAW.
Synonyms:exact_synonym: Jaw Disease
 primary_id: MESH:D007571
 xref: EFO:0009468

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agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxh1 forkhead box H1 ISO OMIM:202650 MouseDO NCBI chrNW_004624735:12,384,728...12,388,234
Ensembl chrNW_004624735:12,386,281...12,387,774 		JBrowse link
G Prrx1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex | ClinVar Annotator: match by term: PRRX1-related condition OMIM
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chrNW_004624826:8,361,039...8,435,488
Ensembl chrNW_004624826:8,361,033...8,435,656 		JBrowse link
G Trappc10 trafficking protein particle complex subunit 10 ISO OMIM:202650 MouseDO NCBI chrNW_004624745:29,959,237...30,031,074
Ensembl chrNW_004624745:29,961,054...30,031,113 		JBrowse link
Ankyloblepharon Filiforme Adnatum term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon filiforme congenitum ClinVar PMID:25741868 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate | ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome OMIM
ClinVar		 PMID:9536098 PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 More... NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development | ClinVar Annotator: match by term: PPP3CA-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29432562 PMID:30904718 PMID:33963760 NCBI chrNW_004624830:6,318,352...6,584,232
Ensembl chrNW_004624830:6,317,968...6,581,892 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp7a ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452 		JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004624824:1,516,481...1,655,364
Ensembl chrNW_004624824:1,517,966...1,655,329 		JBrowse link
G Hnrnpk heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome | ClinVar Annotator: match by term: HNRNPK-related condition | ClinVar Annotator: match by term: Okamoto syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chrNW_004624809:7,538,568...7,548,272 JBrowse link
G Med13l mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chrNW_004624747:16,810,123...17,120,758
Ensembl chrNW_004624747:16,810,076...17,118,088 		JBrowse link
G Vhl von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Okamoto syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chrNW_004624731:5,350,912...5,359,286 JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant OMIM
ClinVar		 PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chrNW_004624751:11,716,369...11,847,726
Ensembl chrNW_004624751:11,716,369...11,847,758 		JBrowse link
G Otulin OTU deubiquitinase with linear linkage specificity ISO ClinVar Annotator: match by term: Craniometadiaphyseal dysplasia wormian bone type | ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chrNW_004624751:11,676,932...11,703,143
Ensembl chrNW_004624751:11,676,850...11,702,061 		JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein alpha 1 ISO ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive OMIM
ClinVar		 PMID:11146471 PMID:23951358 PMID:25741868 PMID:28492532 NCBI chrNW_004624798:9,358,996...9,364,413
Ensembl chrNW_004624798:9,359,004...9,364,313 		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 chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519 		JBrowse link
G Foxe1 forkhead box E1 ISO ClinVar Annotator: match by term: Bamforth-Lazarus syndrome OMIM
ClinVar		 PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:21177256 More... NCBI chrNW_004624825:2,979,447...2,981,412
Ensembl chrNW_004624825:2,980,176...2,981,303 		JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Bartsocas-Papas syndrome 1 | ClinVar Annotator: match by term: MULTIPLE PTERYGIUM SYNDROME, ASLAN TYPE OMIM
ClinVar		 PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chrNW_004624745:28,461,948...28,481,721
Ensembl chrNW_004624745:28,461,900...28,481,813 		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 chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Med25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25527630 PMID:25741868 PMID:25792360 PMID:28170084 More... NCBI chrNW_004624832:4,483,599...4,503,937
Ensembl chrNW_004624832:4,484,359...4,503,863 		JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxc13 homeobox C13 ISO Ectodermal dysplasia-9 OMIA PMID:28011715 NCBI chrNW_004624904:1,993,854...2,001,623
Ensembl chrNW_004624904:1,993,854...2,000,500 		JBrowse link
G Plekha5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chrNW_004624752:19,055,158...19,298,933
Ensembl chrNW_004624752:19,057,767...19,298,772 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		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 chrNW_004624826:4,064,126...4,118,176 JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen type I alpha 1 chain treatment ISO associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chrNW_004624795:6,167,504...6,183,208
Ensembl chrNW_004624795:6,168,797...6,183,071 		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:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 | ClinVar Annotator: match by term: CTNND1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:28492532 PMID:29805042 PMID:32196547 More... NCBI chrNW_004624864:2,953,357...3,000,355
Ensembl chrNW_004624864:2,951,556...3,006,529 		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:25741868 PMID:28150392 NCBI chrNW_004624730:75,644,242...75,707,159
Ensembl chrNW_004624730:75,644,163...75,707,043 		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 Annotator: match by term: MYOPATHY, CONGENITAL NONPROGRESSIVE, WITH MOEBIUS SEQUENCE AND ROBIN SEQUENCE ClinVar PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149 		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 More... NCBI chrNW_004624760:1,934,223...1,941,176
Ensembl chrNW_004624760:1,934,699...1,941,149 		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 chrNW_004624754:15,637,322...15,637,883 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 chrNW_004624732:42,627,789...42,751,037
Ensembl chrNW_004624732:42,627,715...42,753,165 		JBrowse link
G Tgds TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: TGDS-related condition OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chrNW_004624879:1,365,464...1,384,726
Ensembl chrNW_004624879:1,366,151...1,384,601 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ric1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome | ClinVar Annotator: match by term: RIC1-related condition OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chrNW_004624736:10,161,772...10,337,585 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: CCM2-related condition | ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chrNW_004624740:7,308,178...7,348,681
Ensembl chrNW_004624740:7,308,177...7,348,689 		JBrowse link
G Nacad NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chrNW_004624740:7,299,294...7,307,056 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 onset
exacerbates		 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 | ClinVar Annotator: match by term: Cerebral cavernous malformations 3
DNA:mutations:multiple (human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:15543491 PMID:16199547 PMID:16329096 PMID:16380626 More... RGD:401827114 RGD:401827115 NCBI chrNW_004624730:45,653,470...45,698,461
Ensembl chrNW_004624730:45,654,022...45,678,745 		JBrowse link
G Serpini1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar PMID:15543491 PMID:18300272 PMID:23801932 PMID:25741868 PMID:28492532 NCBI chrNW_004624730:45,698,714...45,791,744
Ensembl chrNW_004624730:45,739,911...45,795,570 		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 | ClinVar Annotator: match by term: SNRPB-related condition OMIM
ClinVar		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... NCBI chrNW_004624741:3,694,488...3,703,169
Ensembl chrNW_004624741:3,691,676...3,703,255 		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 chrNW_004624755:24,854,742...24,927,912
Ensembl chrNW_004624755:24,854,742...24,928,006 		JBrowse link
G Atp5me ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,368,644...26,369,719
Ensembl chrNW_004624755:26,368,755...26,369,665 		JBrowse link
G Cplx1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,265,590...26,286,203
Ensembl chrNW_004624755:26,266,614...26,288,079 		JBrowse link
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,998,524...26,021,223
Ensembl chrNW_004624755:25,999,713...26,021,331 		JBrowse link
G Dgkq diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,179,099...26,197,764
Ensembl chrNW_004624755:26,179,162...26,189,901 		JBrowse link
G Dok7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,454,458...24,478,257
Ensembl chrNW_004624755:24,457,652...24,478,250 		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 chrNW_004624755:24,996,262...25,133,918
Ensembl chrNW_004624755:24,996,270...25,133,961 		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 chrNW_004624755:25,727,989...25,760,774
Ensembl chrNW_004624755:25,713,444...25,760,911 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Fgfrl1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,134,957...26,145,746
Ensembl chrNW_004624755:26,135,505...26,144,325 		JBrowse link
G Gak cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,208,207...26,250,937
Ensembl chrNW_004624755:26,208,334...26,250,533 		JBrowse link
G Grk4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,741,985...24,789,972
Ensembl chrNW_004624755:24,742,073...24,830,314 		JBrowse link
G Haus3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,316,644...25,327,998
Ensembl chrNW_004624755:25,316,893...25,331,303 		JBrowse link
G Hgfac HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,483,358...24,488,505
Ensembl chrNW_004624755:24,483,431...24,488,450 		JBrowse link
G Htt huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,602,955...24,729,584
Ensembl chrNW_004624755:24,603,490...24,729,333 		JBrowse link
G Idua alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,151,302...26,169,324
Ensembl chrNW_004624755:26,154,186...26,169,365 		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 chrNW_004624755:25,604,636...25,631,974
Ensembl chrNW_004624755:25,604,454...25,631,716 		JBrowse link
G Maea macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,934,569...25,968,726
Ensembl chrNW_004624755:25,934,569...25,968,706 		JBrowse link
G Mfsd10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,851,095...24,854,355 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 chrNW_004624755:24,590,378...24,602,806
Ensembl chrNW_004624755:24,590,334...24,597,869 		JBrowse link
G Mxd4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,300,875...25,313,128
Ensembl chrNW_004624755:25,300,712...25,313,243 		JBrowse link
G Nat8l N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,465,154...25,472,906
Ensembl chrNW_004624755:25,468,658...25,472,837 		JBrowse link
G Nelfa negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,498,336...25,508,753
Ensembl chrNW_004624755:25,498,431...25,508,753 		JBrowse link
G Nicol1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,477,354...25,478,742
Ensembl chrNW_004624755:25,477,323...25,478,735 		JBrowse link
G Nkx1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,896,953...25,900,096
Ensembl chrNW_004624755:25,897,061...25,899,884 		JBrowse link
G Nop14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,830,885...24,849,798
Ensembl chrNW_004624755:24,831,023...24,849,778 		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 chrNW_004624755:25,510,329...25,588,540
Ensembl chrNW_004624755:25,509,301...25,588,204 		JBrowse link
G Pcgf3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,294,675...26,344,864
Ensembl chrNW_004624755:26,294,689...26,326,318 		JBrowse link
G Pde6b phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,372,040...26,413,464
Ensembl chrNW_004624755:26,372,072...26,413,381 		JBrowse link
G Pigg phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,505,042...26,538,392
Ensembl chrNW_004624755:26,505,042...26,538,382 		JBrowse link
G Poln DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,316,590...25,464,048
Ensembl chrNW_004624755:25,330,001...25,464,389 		JBrowse link
G Rgs12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,489,746...24,567,937
Ensembl chrNW_004624755:24,489,966...24,553,505 		JBrowse link
G Rit1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624885:1,275,765...1,284,613 JBrowse link
G Rnf212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,081,943...26,120,967
Ensembl chrNW_004624755:26,082,378...26,120,655 		JBrowse link
G Rnf4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,139,637...25,163,586
Ensembl chrNW_004624755:25,141,567...25,153,942 		JBrowse link
G Sh3bp2 SH3 domain binding protein 2 ISO ClinVar Annotator: match by term: Cherubism | ClinVar Annotator: match by term: Fibrous dysplasia of jaw OMIM
ClinVar		 PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:15507112 More... NCBI chrNW_004624755:24,942,542...24,968,384
Ensembl chrNW_004624755:24,941,813...24,957,004 		JBrowse link
G Slbp stem-loop histone mRNA binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,699,977...25,714,348 JBrowse link
G Slc26a1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,162,730...26,168,443
Ensembl chrNW_004624755:26,164,795...26,169,365 		JBrowse link
G Slc49a3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,356,236...26,361,799
Ensembl chrNW_004624755:26,356,154...26,361,611 		JBrowse link
G Spon2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,045,617...26,049,951
Ensembl chrNW_004624755:26,045,493...26,053,476 		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 chrNW_004624755:25,683,314...25,695,102
Ensembl chrNW_004624755:25,683,137...25,692,504 		JBrowse link
G Tmem129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,694,391...25,699,294
Ensembl chrNW_004624755:25,694,026...25,699,489 		JBrowse link
G Tmem175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,190,547...26,200,512
Ensembl chrNW_004624755:26,190,547...26,207,793 		JBrowse link
G Tnip2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:24,976,375...24,995,150
Ensembl chrNW_004624755:24,976,361...25,001,397 		JBrowse link
G Uvssa UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,904,273...25,930,564
Ensembl chrNW_004624755:25,903,377...25,930,043 		JBrowse link
G Zfyve28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:25,208,568...25,295,060
Ensembl chrNW_004624755:25,208,627...25,294,197 		JBrowse link
G Znf721 zinc finger protein 721 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chrNW_004624755:26,551,461...26,621,479 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 chrNW_004624742:3,536,591...3,661,706
Ensembl chrNW_004624742:3,536,591...3,661,468 		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 chrNW_004624816:9,004,691...9,208,434
Ensembl chrNW_004624816:9,004,905...9,208,545 		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 chrNW_004624742:3,410,123...3,495,300 JBrowse link
G Bhmt2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624869:3,571,154...3,596,389
Ensembl chrNW_004624869:3,576,369...3,599,275 		JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)		 RGD
ClinVar		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495 RGD:13442497 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Cdh1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate		 RGD
ClinVar		 PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More... RGD:1599548 NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		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 chrNW_004624864:2,953,357...3,000,355
Ensembl chrNW_004624864:2,951,556...3,006,529 		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 chrNW_004624746:18,075,755...18,090,011
Ensembl chrNW_004624746:18,075,742...18,085,572 		JBrowse link
G Fgf1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chrNW_004624774:1,779,168...1,867,321
Ensembl chrNW_004624774:1,779,170...1,867,300 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624776:16,022,118...16,055,413
Ensembl chrNW_004624776:16,019,835...16,055,498 		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 chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004624763:3,473,047...3,490,346
Ensembl chrNW_004624763:3,474,671...3,490,297 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768 		JBrowse link
G Kif7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chrNW_004624919:1,337,269...1,340,607
Ensembl chrNW_004624919:1,339,228...1,340,208 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337 		JBrowse link
G Mthfd1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183 PMID:25129243 RGD:12910961 RGD:12910962 NCBI chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		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 chrNW_004624818:1,184,736...1,202,708
Ensembl chrNW_004624818:1,187,869...1,199,168 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624941:856,196...894,057 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
G Nog noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)		 RGD PMID:25339627 PMID:25704602 RGD:11251786 RGD:12801482 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chrNW_004624786:11,508,643...11,707,060
Ensembl chrNW_004624786:11,526,050...11,703,258 		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 chrNW_004624752:19,055,158...19,298,933
Ensembl chrNW_004624752:19,057,767...19,298,772 		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 chrNW_004624766:8,421,069...8,655,016
Ensembl chrNW_004624766:8,421,188...8,655,236 		JBrowse link
G Pomt1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chrNW_004624760:4,494,701...4,508,735
Ensembl chrNW_004624760:4,495,254...4,508,616 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Ror2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004624763:3,809,850...3,920,364
Ensembl chrNW_004624763:3,809,569...3,919,346 		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:18797703 PMID:21254359 RGD:11565176 NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chrNW_004624751:20,091,612...20,096,581
Ensembl chrNW_004624751:20,091,609...20,096,563 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
G Tcn2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chrNW_004624747:6,970,707...6,987,946
Ensembl chrNW_004624747:6,971,289...6,987,440 		JBrowse link
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:25741868 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		JBrowse link
G Znf462 zinc finger protein 462 ISO ClinVar Annotator: match by term: Cleft lip ClinVar PMID:25741868 NCBI chrNW_004624758:4,490,604...4,650,629
Ensembl chrNW_004624758:4,490,035...4,639,378 		JBrowse link
CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hyal2 hyaluronidase 2 ISO ClinVar Annotator: match by term: Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome ClinVar PMID:25741868 NCBI chrNW_004624730:4,170,045...4,175,264
Ensembl chrNW_004624730:4,169,742...4,175,242 		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 chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		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 chrNW_004624898:2,704,322...2,731,918
Ensembl chrNW_004624898:2,724,042...2,727,419 		JBrowse link
G Bhmt2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624869:3,571,154...3,596,389
Ensembl chrNW_004624869:3,576,369...3,599,275 		JBrowse link
G Bnc2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chrNW_004624736:20,488,854...20,917,614
Ensembl chrNW_004624736:20,491,388...20,916,729 		JBrowse link
G Cask calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9787075 RGD:11576291 NCBI chrNW_004624762:13,723,347...14,106,844
Ensembl chrNW_004624762:13,722,691...14,106,844 		JBrowse link
G Cbfb core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chrNW_004624746:19,204,415...19,264,217
Ensembl chrNW_004624746:19,204,392...19,264,194 		JBrowse link
G Cdc42 cell division cycle 42 ISO MouseDO NCBI chrNW_004624764:6,874,453...6,891,952 JBrowse link
G Chuk component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chrNW_004624737:12,022,081...12,052,128
Ensembl chrNW_004624737:12,022,419...12,052,131 		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 chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
G Col2a1 collagen type II alpha 1 chain susceptibility ISO DNA:SNP,haplotype:intron:rs1793949(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
G Dlg1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chrNW_004624730:62,001,547...62,223,098
Ensembl chrNW_004624730:62,002,280...62,223,319 		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 chrNW_004624739:8,810,127...9,136,044
Ensembl chrNW_004624739:8,811,082...9,135,815 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705 		JBrowse link
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624731:10,413,715...10,468,660
Ensembl chrNW_004624731:10,413,645...10,468,690 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
G Fgf9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624776:16,022,118...16,055,413
Ensembl chrNW_004624776:16,019,835...16,055,498 		JBrowse link
G Fgfr1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Flnb filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		JBrowse link
G Fzd4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chrNW_004624845:2,972,308...3,055,596
Ensembl chrNW_004624845:3,046,063...3,050,560 		JBrowse link
G Gata6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chrNW_004624770:9,772,818...9,799,837
Ensembl chrNW_004624770:9,772,818...9,798,259 		JBrowse link
G Gdf6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004624763:3,473,047...3,490,346
Ensembl chrNW_004624763:3,474,671...3,490,297 		JBrowse link
G Gli3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chrNW_004624740:18,961,395...19,238,760
Ensembl chrNW_004624740:18,975,596...19,235,900 		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 chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433 		JBrowse link
G Golgb1 golgin B1 ISO MouseDO NCBI chrNW_004624731:26,438,529...26,526,205
Ensembl chrNW_004624731:26,455,126...26,526,316 		JBrowse link
G Grhl3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar NCBI chrNW_004624764:8,753,343...8,783,891
Ensembl chrNW_004624764:8,753,567...8,783,162 		JBrowse link
G Inpp1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chrNW_004624854:5,660,648...5,686,628 JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835 		JBrowse link
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:12920575 PMID:25741868 NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768 		JBrowse link
G Kif7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chrNW_004624768:16,674,485...16,732,698
Ensembl chrNW_004624768:16,718,978...16,730,707 		JBrowse link
G Meis2 Meis homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chrNW_004624804:4,210,765...4,413,284
Ensembl chrNW_004624804:4,210,770...4,413,261 		JBrowse link
G Mnt MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chrNW_004624786:5,039,699...5,057,789
Ensembl chrNW_004624786:5,039,699...5,055,491 		JBrowse link
G Msx1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337 		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 chrNW_004624734:36,560,486...36,620,043
Ensembl chrNW_004624734:36,560,486...36,620,026 		JBrowse link
G Mthfs methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624941:856,196...894,057 JBrowse link
G Mtr 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624775:13,791,690...13,903,888
Ensembl chrNW_004624775:13,792,043...13,896,559 		JBrowse link
G Myc MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chrNW_004624735:27,780,338...27,784,714
Ensembl chrNW_004624735:27,780,037...27,784,806 		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 chrNW_004624849:3,283,180...3,345,456
Ensembl chrNW_004624849:3,284,085...3,344,759 		JBrowse link
G Myo19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624871:3,585,009...3,616,289
Ensembl chrNW_004624871:3,585,009...3,616,277 		JBrowse link
G Nectin1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chrNW_004624792:3,553,185...3,903,288
Ensembl chrNW_004624792:3,553,004...3,902,468 		JBrowse link
G Nek9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chrNW_004624734:26,557,208...26,600,777 JBrowse link
G Nos3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624800:5,600,215...5,619,020
Ensembl chrNW_004624800:5,600,212...5,619,004 		JBrowse link
G Pax9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chrNW_004624838:129,725...147,572
Ensembl chrNW_004624838:133,476...149,636 		JBrowse link
G Pdgfra platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:22473090 PMID:24728327 PMID:25741868 PMID:27153395 PMID:28492532 NCBI chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		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 chrNW_004624795:3,399,648...3,408,277
Ensembl chrNW_004624795:3,399,699...3,408,277 		JBrowse link
G Pigw phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624871:3,616,335...3,619,668
Ensembl chrNW_004624871:3,616,359...3,619,560 		JBrowse link
G Pitx2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chrNW_004624838:4,872,279...4,889,780
Ensembl chrNW_004624838:4,871,511...4,886,384 		JBrowse link
G Prmt1 protein arginine methyltransferase 1 ISO MouseDO NCBI chrNW_004624832:4,593,594...4,602,514
Ensembl chrNW_004624832:4,589,743...4,602,402 		JBrowse link
G Ptch1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Rarg retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chrNW_004624904:1,255,854...1,277,946 JBrowse link
G Rere arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chrNW_004624818:3,255,835...3,648,634
Ensembl chrNW_004624818:3,388,149...3,648,634 		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 chrNW_004624868:479,303...732,723
Ensembl chrNW_004624868:479,290...731,650 		JBrowse link
G Ryk receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chrNW_004624730:10,462,590...10,568,780 JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:17377962 PMID:23925499 PMID:24301056 PMID:25741868 PMID:25885067 More... NCBI chrNW_004624889:1,321,323...1,466,368
Ensembl chrNW_004624889:1,321,345...1,466,319 		JBrowse link
G Sdc2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chrNW_004624763:3,809,850...3,920,364
Ensembl chrNW_004624763:3,809,569...3,919,346 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Shox2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chrNW_004624730:35,826,631...35,836,141
Ensembl chrNW_004624730:35,825,922...35,835,756 		JBrowse link
G Sim2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chrNW_004624745:26,851,423...26,891,590
Ensembl chrNW_004624745:26,852,980...26,891,176 		JBrowse link
G Six2 SIX homeobox 2 ISO MouseDO NCBI chrNW_004624738:26,442,935...26,447,100
Ensembl chrNW_004624738:26,442,965...26,446,942 		JBrowse link
G Slc19a1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624745:30,793,114...30,811,944
Ensembl chrNW_004624745:30,794,024...30,811,944 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 PMID:33461977 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Sox3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chrNW_004624808:6,167,512...6,169,603
Ensembl chrNW_004624808:6,167,512...6,168,891 		JBrowse link
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like ISO MouseDO NCBI chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535 		JBrowse link
G Spry2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chrNW_004624751:20,091,612...20,096,581
Ensembl chrNW_004624751:20,091,609...20,096,563 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
G Tbx1 T-box transcription factor 1 ISO RGD PMID:25556186 PMID:30121012 RGD:155631306 RGD:155641231 NCBI chrNW_004624747:386,763...395,515
Ensembl chrNW_004624747:388,904...395,098 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400 RGD PMID:12374769 RGD:724722 NCBI chrNW_004624836:1,021,089...1,071,069 JBrowse link
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chrNW_004624863:1,643,173...2,374,330
Ensembl chrNW_004624863:1,643,076...2,149,630 		JBrowse link
G Tgfb1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chrNW_004624907:162,567...175,696
Ensembl chrNW_004624907:161,569...176,605 		JBrowse link
G Tgfb2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chrNW_004624835:2,363,059...2,436,536
Ensembl chrNW_004624835:2,363,139...2,437,643 		JBrowse link
G Tgfb3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD		 PMID:7493022 PMID:17097601 PMID:26971374 RGD:12801424 NCBI chrNW_004624734:25,717,011...25,739,942
Ensembl chrNW_004624734:25,716,972...25,739,199 		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 chrNW_004624826:4,064,126...4,118,176 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 chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
G Tyms thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chrNW_004624770:11,138,673...11,149,600
Ensembl chrNW_004624770:11,138,652...11,149,600 		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 chrNW_004624836:1,021,089...1,071,069 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 | ClinVar Annotator: match by term: MEIS2-related disorder OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chrNW_004624804:4,210,765...4,413,284
Ensembl chrNW_004624804:4,210,770...4,413,261 		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 chrNW_004624817:497,415...510,061
Ensembl chrNW_004624817:497,372...510,580 		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 chrNW_004624764:7,664,550...7,742,494 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 ISO OMIM:119550 MouseDO NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		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 chrNW_004624730:22,944,710...23,034,200
Ensembl chrNW_004624730:22,944,184...23,034,231 		JBrowse link
G Tgfbr2 transforming growth factor beta receptor 2 ISO OMIM:119570 MouseDO NCBI chrNW_004624788:8,447,679...8,535,821
Ensembl chrNW_004624788:8,447,542...8,535,959 		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 ClinVar PMID:25741868 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability | ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853 		JBrowse link
G Kdm8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chrNW_004624782:11,884,847...11,903,944
Ensembl chrNW_004624782:11,884,631...11,903,947 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:22726846 More... NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961 		JBrowse link
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203 NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248 		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: 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 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 PMID:28492532 NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		JBrowse link
G Arid1b AT-rich interaction domain 1B ISO ClinVar Annotator: match by term: ARID1B-related BAFopathy | ClinVar Annotator: match by term: ARID1B-related disorder | ClinVar Annotator: match by term: Coffin-Siris syndrome 1
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: ARID1B-related BAFopathy | 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
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:16199547 PMID:17576681 More... NCBI chrNW_004624785:970,169...1,417,847
Ensembl chrNW_004624785:973,003...1,417,853 		JBrowse link
G Arsl arylsulfatase L ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:7720070 PMID:9863597 PMID:18348268 PMID:20301713 PMID:23470839 More... NCBI chrNW_004624834:1,307,539...1,331,411
Ensembl chrNW_004624834:1,308,159...1,331,463 		JBrowse link
G Bicra BRD4 interacting chromatin remodeling complex associated protein ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624832:6,171,923...6,237,198
Ensembl chrNW_004624832:6,172,642...6,195,243 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895 		JBrowse link
G Smarca2 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chrNW_004624736:6,681,491...6,863,403
Ensembl chrNW_004624736:6,695,658...6,865,809 		JBrowse link
G Smarca4 SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		JBrowse link
G Sox4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624756:5,128,848...5,156,174 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 | ClinVar Annotator: match by term: SOX4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30661772 PMID:35232796 PMID:35887114 More... NCBI chrNW_004624756:5,128,848...5,156,174 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 BAF chromatin remodeling complex subunit D1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chrNW_004624816:2,213,963...2,227,739
Ensembl chrNW_004624816:2,213,969...2,228,413 		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: BICRA-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 12 OMIM
ClinVar		 PMID:25741868 PMID:25741870 PMID:28492532 PMID:33232675 NCBI chrNW_004624832:6,171,923...6,237,198
Ensembl chrNW_004624832:6,172,642...6,195,243 		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 chrNW_004624794:12,042,627...12,113,762
Ensembl chrNW_004624794:12,042,533...12,113,886 		JBrowse link
G Arid1a AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: ARID1A-related BAFopathy | ClinVar Annotator: match by term: ARID1A-related condition | ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 OMIM
ClinVar		 PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chrNW_004624764:10,672,673...10,759,634
Ensembl chrNW_004624764:10,672,735...10,759,634 		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 chrNW_004624758:17,699,357...17,719,188
Ensembl chrNW_004624758:17,699,400...17,715,482 		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 chrNW_004624747:10,357,560...10,359,779
Ensembl chrNW_004624747:10,357,627...10,359,779 		JBrowse link
G Mmp11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chrNW_004624747:10,398,167...10,408,397
Ensembl chrNW_004624747:10,398,130...10,408,376 		JBrowse link
G Slc2a11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chrNW_004624747:10,314,718...10,357,501
Ensembl chrNW_004624747:10,315,205...10,344,045 		JBrowse link
G Smarcb1 SWI/SNF related BAF chromatin remodeling complex subunit B1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chrNW_004624747:10,362,149...10,396,580
Ensembl chrNW_004624747:10,361,260...10,396,719 		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 BAF chromatin remodeling complex subunit ATPase 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624828:2,893,075...2,985,968
Ensembl chrNW_004624828:2,893,096...2,985,968 		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 BAF chromatin remodeling complex subunit E1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961 		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: ARID2-related condition | ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chrNW_004624816:6,329,888...6,521,535
Ensembl chrNW_004624816:6,332,612...6,521,535 		JBrowse link
G Gigyf1 GRB10 interacting GYF protein 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 ClinVar PMID:25741868 PMID:35917186 NCBI chrNW_004624740:16,407,285...16,421,071
Ensembl chrNW_004624740:16,412,321...16,418,935 		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 | ClinVar Annotator: match by term: DPF2-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895 		JBrowse link
Coffin-Siris syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smarcc2 SWI/SNF related BAF chromatin remodeling complex subunit C2 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:28492532 More... NCBI chrNW_004624802:11,821,686...11,845,407
Ensembl chrNW_004624802:11,821,615...11,845,403 		JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sox11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND WITH OR WITHOUT OCULAR MALFORMATIONS OR HYPOGONADOTROPIC HYPOGONADISM | ClinVar Annotator: match by term: Intellectual disability, autosomal dominant 27 | ClinVar Annotator: match by term: SOX11-related condition OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More... NCBI chrNW_004624846:4,043,010...4,046,660
Ensembl chrNW_004624846:4,044,893...4,046,248 		JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb tubulin beta class I ISO ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 | ClinVar Annotator: match by term: TUBB-related condition OMIM
ClinVar		 PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mapre2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: MAPRE2-related condition | ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:28492532 More... NCBI chrNW_004624779:9,405,794...9,585,749 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 | ClinVar Annotator: match by term: IGBP1-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 NCBI chrNW_004624903:71,212...94,470 JBrowse link
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zmpste24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chrNW_004624764:22,723,643...22,777,517
Ensembl chrNW_004624764:22,723,291...22,778,761 		JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankh ANKH inorganic pyrophosphate transport regulator ISO OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chrNW_004624751:11,716,369...11,847,726
Ensembl chrNW_004624751:11,716,369...11,847,758 		JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Piezo2 piezo type mechanosensitive ion channel component 2 ISO ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot | ClinVar Annotator: match by term: Gordon syndrome OMIM
ClinVar		 PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27653382 More... NCBI chrNW_004624770:18,835,706...19,157,177
Ensembl chrNW_004624770:18,836,899...19,157,114 		JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: EEC SYNDROME 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 | ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 OMIM
ClinVar		 PMID:8737655 PMID:9028452 PMID:9443880 PMID:9536098 PMID:10535733 More... NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar PMID:8737655 PMID:9443880 PMID:9536098 PMID:10535733 PMID:10839977 More... NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391 		JBrowse link
GARG-MISHRA PROGEROID SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tomm7 translocase of outer mitochondrial membrane 7 ISO ClinVar Annotator: match by term: Garg-Mishra progeroid syndrome ClinVar
OMIM		 PMID:36282599 PMID:36299998 NCBI chrNW_004624739:7,854,226...7,863,387
Ensembl chrNW_004624739:7,853,621...7,864,757 		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 OMIM
ClinVar		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... NCBI chrNW_004624766:13,220,250...13,301,447
Ensembl chrNW_004624766:13,224,295...13,294,968 		JBrowse link
G Fancf FA complementation group F ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chrNW_004624766:13,583,664...13,585,684 JBrowse link
G Slc17a6 solute carrier family 17 member 6 ISO ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia ClinVar PMID:28492532 NCBI chrNW_004624766:13,335,186...13,376,634
Ensembl chrNW_004624766:13,335,130...13,376,712 		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 chrNW_004624903:1,412,346...1,436,474
Ensembl chrNW_004624903:1,412,474...1,436,474 		JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgfr1 fibroblast growth factor receptor 1 ISO ClinVar Annotator: match by term: Hartsfield syndrome | ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate OMIM
ClinVar		 PMID:11173846 PMID:14513299 PMID:15605412 PMID:15793702 PMID:16757108 More... NCBI chrNW_004624780:5,161,245...5,212,641
Ensembl chrNW_004624780:5,161,073...5,213,870 		JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3galt2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors ClinVar PMID:25637381 NCBI chrNW_004624814:375,039...382,732
Ensembl chrNW_004624814:375,040...381,702 		JBrowse link
G Cdc73 cell division cycle 73 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 | ClinVar Annotator: match by term: Hyperparathyroidism 2 with jaw tumors OMIM
ClinVar		 PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chrNW_004624814:298,015...460,314
Ensembl chrNW_004624814:299,444...460,391 		JBrowse link
Impaired intellectual development, 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 | ClinVar Annotator: match by term: SOBP-related condition OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chrNW_004624780:14,618,283...14,773,190
Ensembl chrNW_004624780:14,616,469...14,773,237 		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 chrNW_004624742:3,410,123...3,495,300 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 chrNW_004624764:8,753,343...8,783,891
Ensembl chrNW_004624764:8,753,567...8,783,162 		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 chrNW_004624761:15,223,789...15,269,685
Ensembl chrNW_004624761:15,225,356...15,269,810 		JBrowse link
G Satb2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:25885067 PMID:26596517 More... NCBI chrNW_004624889:1,321,323...1,466,368
Ensembl chrNW_004624889:1,321,345...1,466,319 		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 chrNW_004624884:1,830,645...1,840,213 JBrowse link
G Pcsk5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chrNW_004624811:3,453,218...3,862,970 JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chrNW_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035 		JBrowse link
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921 		JBrowse link
G Twsg1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chrNW_004624770:18,047,790...18,081,559
Ensembl chrNW_004624770:18,047,810...18,081,761 		JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Plau plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chrNW_004624754:7,405,637...7,415,870
Ensembl chrNW_004624754:7,408,983...7,416,559 		JBrowse link
Jaw Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apc APC regulator of WNT signaling pathway ISO RGD PMID:17360473 RGD:1601201 NCBI chrNW_004624743:30,517,034...30,635,740
Ensembl chrNW_004624743:30,546,323...30,635,737 		JBrowse link
jaw-winking syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5c kinesin family member 5C ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chrNW_004624866:1,526,647...1,698,113
Ensembl chrNW_004624866:1,526,638...1,698,301 		JBrowse link
G Myh10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chrNW_004624786:11,039,436...11,190,935
Ensembl chrNW_004624786:11,040,951...11,185,627 		JBrowse link
Kapur Toriello Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Kapur-Toriello syndrome ClinVar PMID:25741868 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Kniest dysplasia OMIM
ClinVar		 PMID:4014370 PMID:4214536 PMID:7695699 PMID:7700721 PMID:7849719 More... NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Camk2a calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chrNW_004624774:9,526,323...9,585,647
Ensembl chrNW_004624774:9,526,323...9,585,649 		JBrowse link
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624754:5,800,240...5,832,290
Ensembl chrNW_004624754:5,829,546...5,831,941 		JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chrNW_004624755:25,633,690...25,647,361
Ensembl chrNW_004624755:25,635,165...25,646,932 		JBrowse link
G Flnb filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome | ClinVar Annotator: match by term: Larsen syndrome, dominant type OMIM
ClinVar		 PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chrNW_004624821:691,291...835,244
Ensembl chrNW_004624821:691,272...836,322 		JBrowse link
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
G Zmpste24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chrNW_004624764:22,723,643...22,777,517
Ensembl chrNW_004624764:22,723,291...22,778,761 		JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome ClinVar
OMIM		 PMID:9536098 PMID:17576681 PMID:23770608 PMID:24033266 PMID:25529843 More... NCBI chrNW_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035 		JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Braf B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chrNW_004624765:20,766,368...20,951,560
Ensembl chrNW_004624765:20,773,885...20,951,736 		JBrowse link
G Ctnnb1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chrNW_004624730:77,876,361...77,887,228
Ensembl chrNW_004624730:77,875,257...77,887,234 		JBrowse link
G Defb1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chrNW_004624861:4,710,687...4,718,867 JBrowse link
Maxillary Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chrNW_004624757:1,450,680...1,479,160
Ensembl chrNW_004624757:1,448,698...1,479,255 		JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smo smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921 		JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp5 bone morphogenetic protein 5 ISO OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chrNW_004624850:3,324,553...3,481,439
Ensembl chrNW_004624850:3,322,782...3,481,512 		JBrowse link
G Cdc45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chrNW_004624795:2,980,334...2,992,579
Ensembl chrNW_004624795:2,980,185...2,992,330 		JBrowse link
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chrNW_004624746:808,463...813,464
Ensembl chrNW_004624746:809,252...812,993 		JBrowse link
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:28492532 PMID:31407851 PMID:31784481 PMID:37638758 NCBI chrNW_004624745:21,798,712...21,807,657
Ensembl chrNW_004624745:21,798,075...21,807,556 		JBrowse link
G Gmnn geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:11477602 PMID:14973488 PMID:26637980 NCBI chrNW_004624756:2,268,304...2,335,021
Ensembl chrNW_004624756:2,268,304...2,278,129 		JBrowse link
G Mcm3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chrNW_004624855:3,806,273...3,825,143
Ensembl chrNW_004624855:3,806,553...3,827,873 		JBrowse link
G Mcm7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chrNW_004624740:16,887,699...16,895,224
Ensembl chrNW_004624740:16,887,775...16,899,934 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: EAR, PATELLA, SHORT STATURE SYNDROME | ClinVar Annotator: match by term: Meier-Gorlin syndrome | ClinVar Annotator: match by term: Microtia, absent patellae, micrognathia syndrome ClinVar PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chrNW_004624859:833,360...863,631
Ensembl chrNW_004624859:833,793...863,539 		JBrowse link
G Orc4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chrNW_004624866:626,556...716,725
Ensembl chrNW_004624866:622,859...716,787 		JBrowse link
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chrNW_004624914:160,483...188,534
Ensembl chrNW_004624914:160,483...188,490 		JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Donson DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624745:21,798,712...21,807,657
Ensembl chrNW_004624745:21,798,075...21,807,556 		JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:7874170 PMID:11781872 PMID:12884424 PMID:20643727 PMID:23348274 More... NCBI chrNW_004624737:25,052,698...25,158,346
Ensembl chrNW_004624737:25,052,606...25,158,529 		JBrowse link
G Orc1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 | ClinVar Annotator: match by term: ORC1-related condition OMIM
ClinVar		 PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chrNW_004624859:833,360...863,631
Ensembl chrNW_004624859:833,793...863,539 		JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Orc4 origin recognition complex subunit 4 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 | ClinVar Annotator: match by term: ORC4-related condition OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chrNW_004624866:626,556...716,725
Ensembl chrNW_004624866:622,859...716,787 		JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chrNW_004624914:160,483...188,534
Ensembl chrNW_004624914:160,483...188,490 		JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdt1 chromatin licensing and DNA replication factor 1 ISO ClinVar Annotator: match by term: CDT1-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:9536098 PMID:11477602 PMID:11992493 PMID:16199547 PMID:17576681 More... NCBI chrNW_004624746:808,463...813,464
Ensembl chrNW_004624746:809,252...812,993 		JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc6 cell division cycle 6 ISO ClinVar Annotator: match by term: CDC6-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chrNW_004624795:2,980,334...2,992,579
Ensembl chrNW_004624795:2,980,185...2,992,330 		JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gmnn geminin DNA replication inhibitor ISO ClinVar Annotator: match by term: GMNN-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 PMID:28492532 NCBI chrNW_004624756:2,268,304...2,335,021
Ensembl chrNW_004624756:2,268,304...2,278,129 		JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdc45 cell division cycle 45 ISO ClinVar Annotator: match by term: CDC45-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 More... NCBI chrNW_004624747:132,731...161,590
Ensembl chrNW_004624747:132,835...161,553 		JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mcm5 minichromosome maintenance complex component 5 ISO ClinVar Annotator: match by term: MCM5-related condition | ClinVar Annotator: match by term: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chrNW_004624750:327,444...340,790
Ensembl chrNW_004624750:327,304...341,325 		JBrowse link
Micrognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcc9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:23307537 PMID:25741868 PMID:25790160 More... NCBI chrNW_004624752:16,792,202...16,926,552
Ensembl chrNW_004624752:16,792,165...16,927,293 		JBrowse link
G Dync2h1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chrNW_004624918:1,730,675...2,071,231
Ensembl chrNW_004624918:1,730,708...2,071,072 		JBrowse link
G Inpp5e inositol polyphosphate-5-phosphatase E ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:15786477 PMID:19668216 PMID:25741868 PMID:26748598 PMID:27401686 More... NCBI chrNW_004624760:1,586,003...1,594,869
Ensembl chrNW_004624760:1,586,848...1,594,835 		JBrowse link
G Mecp2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chrNW_004624946:620,581...685,339
Ensembl chrNW_004624946:628,284...685,246 		JBrowse link
G Nog noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chrNW_004624795:11,696,102...11,697,367
Ensembl chrNW_004624795:11,696,353...11,697,051 		JBrowse link
G Pgap2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chrNW_004624817:5,245,707...5,269,056
Ensembl chrNW_004624817:5,245,713...5,269,056 		JBrowse link
G Pitx1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chrNW_004624733:12,028,497...12,034,612
Ensembl chrNW_004624733:12,029,298...12,034,413 		JBrowse link
G Pold1 DNA polymerase delta 1, catalytic subunit ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chrNW_004624832:4,117,597...4,135,092
Ensembl chrNW_004624832:4,117,341...4,135,035 		JBrowse link
G Rab5if RAB5 interacting factor ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chrNW_004624842:2,882,252...2,895,047
Ensembl chrNW_004624842:2,882,097...2,894,973 		JBrowse link
G Sf3b4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chrNW_004624772:17,701,930...17,706,613
Ensembl chrNW_004624772:17,701,341...17,706,550 		JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chrNW_004624849:4,468,365...4,511,891
Ensembl chrNW_004624849:4,498,388...4,511,593 		JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hoxa1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar PMID:25741868 NCBI chrNW_004624739:3,509,020...3,511,890
Ensembl chrNW_004624739:3,508,838...3,511,864 		JBrowse link
G Hoxa2 homeobox A2 ISO ClinVar Annotator: match by term: Microtia with or without hearing impairment | ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate OMIM
ClinVar		 PMID:18394579 PMID:23775976 PMID:25691070 PMID:25741868 NCBI chrNW_004624739:3,501,671...3,504,939
Ensembl chrNW_004624739:3,501,817...3,504,750 		JBrowse link
multiple benign circumferential skin creases on limbs term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tubb tubulin beta class I ISO ClinVar Annotator: match by term: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE | ClinVar Annotator: match by term: Kunze Riehm syndrome ClinVar PMID:23246003 PMID:24833723 PMID:25741868 PMID:26637975 PMID:29671837 More... NCBI chrNW_004624754:25,001,555...25,005,459
Ensembl chrNW_004624754:25,001,552...25,005,464 		JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v0a4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624765:19,149,353...19,219,242
Ensembl chrNW_004624765:19,149,589...19,194,158 		JBrowse link
G Insr insulin receptor ISO ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chrNW_004624828:345,135...485,856
Ensembl chrNW_004624828:345,135...486,184 		JBrowse link
G Stac3 SH3 and cysteine rich domain 3 ISO ClinVar Annotator: match by term: Bailey-Bloch congenital myopathy | ClinVar Annotator: match by term: CONGENITAL MYOPATHY 13 | ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:23736855 PMID:25741868 More... NCBI chrNW_004624802:10,694,539...10,704,320
Ensembl chrNW_004624802:10,695,870...10,704,334 		JBrowse link
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fbxw11 F-box and WD repeat domain containing 11 ISO ClinVar Annotator: match by term: FBXW11-related condition | ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:31402090 NCBI chrNW_004624733:17,985,546...18,121,398 JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aopep aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:17924555 PMID:22382802 PMID:28492532 NCBI chrNW_004624753:16,188,323...16,588,989 JBrowse link
G Arl3 ARF like GTPase 3 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004624831:2,041,241...2,077,801
Ensembl chrNW_004624831:2,037,023...2,078,220 		JBrowse link
G Fancc FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:17924555 PMID:22382802 More... NCBI chrNW_004624753:16,566,864...16,811,438 JBrowse link
G Gli1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004624802:10,483,279...10,494,539
Ensembl chrNW_004624802:10,483,219...10,498,609 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452 		JBrowse link
G LOC101726496 steroid 17-alpha-hydroxylase/17,20 lyase ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004624831:2,155,851...2,166,621
Ensembl chrNW_004624831:2,157,048...2,166,539 		JBrowse link
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: Gorlin-Goltz Syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome | ClinVar Annotator: match by term: MULTIPLE BASAL CELL NEVI, ODONTOGENIC KERATOCYSTS, AND SKELETAL ANOMALIES		 ClinVar PMID:1347096 PMID:1850296 PMID:8302318 PMID:8658145 PMID:8681379 More... NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:18285427 PMID:23951062 More... NCBI chrNW_004624906:707,270...726,570
Ensembl chrNW_004624906:706,492...726,519 		JBrowse link
G Pth parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chrNW_004624766:5,489,857...5,492,777
Ensembl chrNW_004624766:5,489,800...5,492,871 		JBrowse link
G Sfxn2 sideroflexin 2 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004624831:2,077,915...2,109,926
Ensembl chrNW_004624831:2,077,977...2,091,781 		JBrowse link
G Shh sonic hedgehog signaling molecule ISO RGD
MouseDO		 PMID:9115210 RGD:12802345 NCBI chrNW_004624800:2,202,986...2,215,309
Ensembl chrNW_004624800:2,203,393...2,212,068 		JBrowse link
G Smo smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chrNW_004624783:7,012,385...7,039,302
Ensembl chrNW_004624783:7,011,899...7,039,921 		JBrowse link
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Fifth Phacomatosis | ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome | ClinVar Annotator: match by term: Gorlin syndrome		 ClinVar PMID:9536098 PMID:12068298 PMID:16199547 PMID:17102621 PMID:17576681 More... NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341 		JBrowse link
G Trim8 tripartite motif containing 8 ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004624831:2,020,185...2,031,001
Ensembl chrNW_004624831:2,020,227...2,032,099 		JBrowse link
G Wbp1l WW domain binding protein 1 like ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:12068298 PMID:22508808 PMID:25403219 PMID:28492532 PMID:31639285 NCBI chrNW_004624831:2,096,948...2,155,516
Ensembl chrNW_004624831:2,097,047...2,152,943 		JBrowse link
nevoid basal cell carcinoma syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptch1 patched 1 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 OMIM
ClinVar		 PMID:8658145 PMID:8681379 PMID:12900905 PMID:16199547 PMID:16301862 More... NCBI chrNW_004624753:16,929,503...16,995,255
Ensembl chrNW_004624753:16,935,251...16,995,389 		JBrowse link
G Ptch2 patched 2 ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624906:707,270...726,570
Ensembl chrNW_004624906:706,492...726,519 		JBrowse link
nevoid basal cell carcinoma syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sufu SUFU negative regulator of hedgehog signaling ISO ClinVar Annotator: match by term: Basal cell nevus syndrome 2 | ClinVar Annotator: match by term: NEVOID BASAL CELL CARCINOMA SYNDROME 2 ClinVar
OMIM		 PMID:12068298 PMID:19533801 PMID:19833601 PMID:21188540 PMID:22508808 More... NCBI chrNW_004624831:1,882,114...2,012,341
Ensembl chrNW_004624831:1,882,077...2,012,341 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chrNW_004624764:6,874,453...6,891,952 JBrowse link
G Erf ETS2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:28808027 More... NCBI chrNW_004624907:499,913...506,719
Ensembl chrNW_004624907:499,883...507,629 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chrNW_004624738:20,466,120...20,591,966
Ensembl chrNW_004624738:20,466,117...20,591,910 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:31024343 NCBI chrNW_004624763:7,722,275...7,723,482 JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... NCBI chrNW_004624737:35,318,263...35,401,787
Ensembl chrNW_004624737:35,319,767...35,401,044 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chrNW_004624738:10,689,395...10,730,171
Ensembl chrNW_004624738:10,689,152...10,730,171 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chrNW_004624784:14,577,582...14,671,816
Ensembl chrNW_004624784:14,577,515...14,667,575 		JBrowse link
G Ptpn11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chrNW_004624747:19,721,581...19,813,639
Ensembl chrNW_004624747:19,721,468...19,813,670 		JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chrNW_004624747:9,687,369...9,837,344
Ensembl chrNW_004624747:9,705,081...9,837,535 		JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smad4 SMAD family member 4 ISO RGD PMID:19703995 RGD:12880040 NCBI chrNW_004624778:14,570,025...14,629,950
Ensembl chrNW_004624778:14,570,348...14,630,325 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mid1 midline 1 ISO ClinVar Annotator: match by term: MID1-related condition | ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:9718340 PMID:11030761 PMID:12545276 PMID:15121778 More... NCBI chrNW_004624882:3,504,660...3,876,526
Ensembl chrNW_004624882:3,627,879...3,876,526 		JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acss2 acyl-CoA synthetase short chain family member 2 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chrNW_004624842:4,470,551...4,523,174
Ensembl chrNW_004624842:4,471,360...4,522,849 		JBrowse link
G Axin2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chrNW_004624870:2,803,743...2,832,489
Ensembl chrNW_004624870:2,800,873...2,832,626 		JBrowse link
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Cleft lip/palate | ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More... NCBI chrNW_004624746:17,480,472...17,557,722
Ensembl chrNW_004624746:17,483,469...17,557,581 		JBrowse link
G Cep70 centrosomal protein 70 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chrNW_004624730:15,048,836...15,106,760 JBrowse link
G Flna filamin A ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chrNW_004624946:812,278...836,307
Ensembl chrNW_004624946:812,287...837,273 		JBrowse link
G Fst follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chrNW_004624759:5,799,127...5,804,802
Ensembl chrNW_004624759:5,798,067...5,805,254 		JBrowse link
G Gdf11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chrNW_004624802:12,259,971...12,269,440 JBrowse link
G Hkdc1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chrNW_004624754:3,511,947...3,556,131
Ensembl chrNW_004624754:3,511,730...3,556,184 		JBrowse link
G Loxhd1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chrNW_004624778:10,106,009...10,282,085
Ensembl chrNW_004624778:10,106,975...10,282,085 		JBrowse link
G Lrp6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26963285 NCBI chrNW_004624752:25,605,444...25,756,573
Ensembl chrNW_004624752:25,605,302...25,751,893 		JBrowse link
G Meis2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chrNW_004624804:4,210,765...4,413,284
Ensembl chrNW_004624804:4,210,770...4,413,261 		JBrowse link
G Msx1 msh homeobox 1 ISO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337 		JBrowse link
G Myh9 myosin heavy chain 9 ISO DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)		 RGD PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 NCBI chrNW_004624752:11,327,881...11,414,037
Ensembl chrNW_004624752:11,327,877...11,413,669 		JBrowse link
G Ndst1 N-deacetylase and N-sulfotransferase 1 ISO ClinVar Annotator: match by term: Cleft lip/palate ClinVar PMID:25741868 NCBI chrNW_004624774:9,758,459...9,821,309
Ensembl chrNW_004624774:9,758,809...9,821,309 		JBrowse link
G Phyh phytanoyl-CoA 2-hydroxylase ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25133751 PMID:25741868 More... NCBI chrNW_004624805:5,801,392...5,813,696 JBrowse link
G Smarce1 SWI/SNF related BAF chromatin remodeling complex subunit E1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chrNW_004624795:2,712,524...2,730,028
Ensembl chrNW_004624795:2,714,525...2,729,961 		JBrowse link
G Tbx22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:25741868 NCBI chrNW_004624836:1,021,089...1,071,069 JBrowse link
G Tfap2a transcription factor AP-2 alpha ISO OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chrNW_004624756:15,413,950...15,436,037
Ensembl chrNW_004624756:15,418,260...15,436,379 		JBrowse link
G Vwa8 von Willebrand factor A domain containing 8 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chrNW_004624748:13,159,660...13,630,727
Ensembl chrNW_004624748:13,159,518...13,631,333 		JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamtsl1 ADAMTS like 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624736:22,455,837...22,901,566
Ensembl chrNW_004624736:21,827,706...22,899,800 		JBrowse link
G Cdh11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624746:21,345,304...21,501,542
Ensembl chrNW_004624746:21,345,310...21,503,822 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:24664531 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
G Fgf10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624759:10,904,626...10,983,509
Ensembl chrNW_004624759:10,904,989...10,983,574 		JBrowse link
G Mafb MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624919:1,337,269...1,340,607
Ensembl chrNW_004624919:1,339,228...1,340,208 		JBrowse link
G Nectin2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chrNW_004624907:1,713,786...1,739,158
Ensembl chrNW_004624907:1,713,443...1,740,627 		JBrowse link
G Nipbl NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624759:17,899,152...18,078,213
Ensembl chrNW_004624759:17,899,152...17,999,295 		JBrowse link
G Ntn1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624786:11,508,643...11,707,060
Ensembl chrNW_004624786:11,526,050...11,703,258 		JBrowse link
G Runx2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624754:14,601,574...14,868,469
Ensembl chrNW_004624754:14,679,974...14,867,729 		JBrowse link
G Ryk receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chrNW_004624730:10,462,590...10,568,780 JBrowse link
G Taf1b TATA-box binding protein associated factor, RNA polymerase I subunit B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chrNW_004624865:5,089,425...5,128,228
Ensembl chrNW_004624865:5,088,926...5,128,289 		JBrowse link
G Ttn titin ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:18414213 PMID:22335739 PMID:23975875 PMID:25589632 PMID:25741868 More... NCBI chrNW_004624844:484,593...760,155 JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768 		JBrowse link
G Sumo1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10 OMIM
ClinVar		 PMID:25741868 NCBI chrNW_004624765:14,205,071...14,229,864
Ensembl chrNW_004624765:14,205,051...14,229,864 		JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bmp4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 11 | ClinVar Annotator: match by term: Orofacial cleft 11 OMIM
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chrNW_004624731:15,262,480...15,269,196
Ensembl chrNW_004624731:15,263,274...15,269,743 		JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: DLX4-related condition | ClinVar Annotator: match by term: Orofacial cleft 15 OMIM
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chrNW_004624795:5,995,364...6,000,472
Ensembl chrNW_004624795:5,995,085...6,000,566 		JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Orofacial cleft 5 OMIM
ClinVar		 PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... NCBI chrNW_004624755:21,857,360...21,861,235
Ensembl chrNW_004624755:21,857,461...21,861,337 		JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More... NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO ClinVar Annotator: match by term: Orofacial cleft 8 OMIM
ClinVar		 PMID:9536098 PMID:16740912 PMID:17576681 PMID:24309930 PMID:25741868 More... NCBI chrNW_004624730:67,283,444...67,489,808
Ensembl chrNW_004624730:67,286,160...67,489,670 		JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col11a2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant | ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia OMIM
ClinVar		 PMID:7833911 PMID:7859284 PMID:9506662 PMID:9536098 PMID:9805126 More... NCBI chrNW_004624754:23,614,486...23,640,489
Ensembl chrNW_004624754:23,614,570...23,639,591 		JBrowse link
G Col2a1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Periapical Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cx3cl1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:23829599 RGD:9491793 NCBI chrNW_004624746:28,677,956...28,688,638
Ensembl chrNW_004624746:28,677,709...28,689,122 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO RGD PMID:17509411 RGD:10449488 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b ISO RGD PMID:21793936 RGD:7205516 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
periapical granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:11683586 RGD:6893426 NCBI chrNW_004624730:74,768,668...74,769,749
Ensembl chrNW_004624730:74,768,668...74,769,798 		JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ciita class II major histocompatibility complex transactivator ISO RGD PMID:20478458 RGD:7242892 NCBI chrNW_004624824:8,099,877...8,156,661
Ensembl chrNW_004624824:8,116,537...8,153,482 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chrNW_004624777:3,268,674...3,321,424
Ensembl chrNW_004624777:3,268,953...3,321,145 		JBrowse link
G Il17a interleukin 17A ISO protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chrNW_004624855:3,911,349...3,914,214
Ensembl chrNW_004624855:3,911,349...3,913,136 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11b treatment ISO Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chrNW_004624763:17,139,109...17,166,398
Ensembl chrNW_004624763:17,138,847...17,166,453 		JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nedd4l NEDD4 like E3 ubiquitin protein ligase ISO ClinVar Annotator: match by term: NEDD4L-related condition | ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 | ClinVar Annotator: match by term: Periventricular nodular heterotopia with syndactyly, cleft palate and developmental delay OMIM
ClinVar		 PMID:25741868 PMID:27694961 PMID:28492532 PMID:28515470 PMID:32117442 More... NCBI chrNW_004624792:3,553,185...3,903,288
Ensembl chrNW_004624792:3,553,004...3,902,468 		JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3glct beta 3-glucosyltransferase ISO ClinVar Annotator: match by term: Peters plus syndrome OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16909395 PMID:17576681 PMID:18199743 More... NCBI chrNW_004624776:6,823,388...6,954,114
Ensembl chrNW_004624776:6,825,204...6,922,791 		JBrowse link
G Fgf8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:28492532 PMID:29584859 NCBI chrNW_004624831:1,251,991...1,259,247
Ensembl chrNW_004624831:1,253,044...1,257,741 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Irf6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:12920575 PMID:14757865 PMID:15472655 PMID:15558496 More... NCBI chrNW_004624807:2,190,721...2,207,183
Ensembl chrNW_004624807:2,193,798...2,206,768 		JBrowse link
G Ripk4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chrNW_004624745:28,461,948...28,481,721
Ensembl chrNW_004624745:28,461,900...28,481,813 		JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dhodh dihydroorotate dehydrogenase (quinone) ISO ClinVar Annotator: match by term: DHODH-related condition | ClinVar Annotator: match by term: Miller syndrome OMIM
ClinVar		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chrNW_004624746:14,254,811...14,268,034
Ensembl chrNW_004624746:14,254,193...14,268,034 		JBrowse link
Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col2a1 collagen type II alpha 1 chain susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chrNW_004624816:4,273,969...4,304,519
Ensembl chrNW_004624816:4,274,219...4,304,513 		JBrowse link
Raine Syndrome term browser