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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:Maxillofacial Abnormalities
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Accession:DOID:9004563 term browser browse the term
Definition:Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.
Synonyms:exact_synonym: Maxillofacial Abnormality
 primary_id: MESH:D019767;   RDO:0000753


show annotations for term's descendants           Sort by:
Maxillofacial Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL3A1 collagen type III alpha 1 chain ISO RGD PMID:10373016 RGD:704391 NCBI chr36:30,488,250...30,526,367
Ensembl chr36:30,488,488...30,536,765 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16832597 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXH1 forkhead box H1 ISO OMIM:202650 MouseDO NCBI chr13:37,883,554...37,887,324
Ensembl chr13:37,882,687...37,885,319 		JBrowse link
G PRRX1 paired related homeobox 1 ISO ClinVar Annotator: match by term: Agnathia-otocephaly complex OMIM
ClinVar		 PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787 		JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISO OMIM:202650 MouseDO NCBI chr31:37,910,480...37,999,559
Ensembl chr31:37,910,322...37,997,188 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		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 chr32:22,688,141...22,996,693
Ensembl chr32:22,688,143...22,996,688 		JBrowse link
Au-Kline Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP7A ATPase copper transporting alpha ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869 		JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176 		JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K ISO ClinVar Annotator: match by term: Au-Kline syndrome OMIM
ClinVar		 PMID:18414213 PMID:25741868 PMID:26173930 PMID:26220823 PMID:26954065 More... NCBI chr 1:75,499,334...75,511,525
Ensembl chr 1:75,499,393...75,511,425 		JBrowse link
G MED13L mediator complex subunit 13L ISO ClinVar Annotator: match by term: Kabuki-like syndrome ClinVar PMID:25741868 NCBI chr26:12,768,762...13,031,251
Ensembl chr26:12,770,588...13,030,512 		JBrowse link
G VHL von Hippel-Lindau tumor suppressor ISO ClinVar Annotator: match by term: Au-Kline syndrome ClinVar PMID:7563486 PMID:7987306 PMID:8707293 PMID:8772572 PMID:8956040 More... NCBI chr20:8,206,616...8,211,347
Ensembl chr20:8,206,616...8,211,323 		JBrowse link
autosomal recessive Robinow syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PRICKLE1 prickle planar cell polarity protein 1 ISO OMIM:268310 MouseDO NCBI chr27:11,327,086...11,437,799
Ensembl chr27:11,426,647...11,437,303 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 ISO ClinVar Annotator: match by term: Autosomal recessive Robinow syndrome | ClinVar Annotator: match by term: COVESDEM SYNDROME | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals | ClinVar Annotator: match by term: Robinow syndrome, autosomal recessive, with brachy-syn-polydactyly OMIM
ClinVar		 PMID:10932186 PMID:10932187 PMID:10986040 PMID:15952209 PMID:16049033 More... NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151 		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 chr34:30,912,632...30,977,624
Ensembl chr34:30,912,632...30,977,583 		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 chr11:55,143,389...55,145,954 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 chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600 		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 chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512 		JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome OMIM
ClinVar		 PMID:25488817 PMID:25741868 PMID:25792360 PMID:28170084 PMID:28492532 More... NCBI chr 1:106,723,737...106,740,077
Ensembl chr 1:106,727,141...106,740,032 		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 chr27:1,315,532...1,323,470
Ensembl chr27:1,273,131...1,323,370 		JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		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 chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283 		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 susceptibility ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 ClinVar
OMIM		 PMID:2449335 PMID:8075649 PMID:9537325 PMID:9744472 PMID:11305955 More... NCBI chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar		 PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216 		JBrowse link
Braddock-Carey Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KIF15 kinesin family member 15 ISO ClinVar Annotator: match by term: Braddock-carey syndrome 2 OMIM
ClinVar		 PMID:28150392 NCBI chr20:43,454,025...43,532,361
Ensembl chr20:43,359,206...43,532,219 		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 chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007 		JBrowse link
Carey-Fineman-Ziter Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 1 OMIM
ClinVar		 PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30065953 NCBI chr 9:49,905,580...49,919,849
Ensembl chr 9:49,907,228...49,921,007 		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 chr12:12,626,482...12,630,058 JBrowse link
G POLR1C RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Carey-Fineman-Ziter syndrome 2 ClinVar PMID:35642635 NCBI chr12:11,978,337...11,982,265
Ensembl chr12:11,978,422...12,008,579 		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 chr19:45,022,450...45,150,977
Ensembl chr19:45,022,072...45,149,339 		JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO ClinVar Annotator: match by term: Catel-Manzke syndrome | ClinVar Annotator: match by term: Index finger anomaly with Pierre Robin syndrome OMIM
ClinVar		 PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr22:45,384,119...45,400,128
Ensembl chr22:45,384,412...45,400,314 		JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO ClinVar Annotator: match by term: Catifa syndrome OMIM
ClinVar		 PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:93,735,158...93,843,331
Ensembl chr 1:93,735,077...93,841,401 		JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 OMIM
ClinVar		 PMID:2468908 PMID:9536098 PMID:14624391 PMID:14740320 PMID:15122722 More... NCBI chr16:10,347,801...10,392,560
Ensembl chr16:10,347,145...10,394,594 		JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr16:10,393,993...10,394,424 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 chr34:32,512,109...32,553,524
Ensembl chr34:32,512,112...32,553,445 		JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformation 3 ClinVar NCBI chr34:32,553,876...32,624,708
Ensembl chr34:32,553,902...32,624,526 		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: RIB GAP DEFECTS WITH MICROGNATHIA OMIM
ClinVar		 PMID:25047197 PMID:25504470 PMID:25741868 PMID:26240113 PMID:26971886 More... NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229 		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 chr 3:61,356,643...61,443,851
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G ATP5ME ATP synthase membrane subunit e ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr  X:108,285,208...108,285,423 JBrowse link
G CPLX1 complexin 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737 		JBrowse link
G CTBP1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656 		JBrowse link
G DGKQ diacylglycerol kinase theta ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,544,350...91,554,494
Ensembl chr 3:91,544,219...91,554,565 		JBrowse link
G DOK7 docking protein 7 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:60,873,298...60,897,047
Ensembl chr 3:60,869,206...60,897,318 		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 chr 3:61,543,738...61,674,729
Ensembl chr 3:61,544,354...61,644,322 		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 chr 3:62,410,101...62,441,189
Ensembl chr 3:62,424,613...62,447,948 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,499,088...91,508,982 JBrowse link
G GAK cyclin G associated kinase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,575,537...91,630,715
Ensembl chr 3:91,574,751...91,630,663 		JBrowse link
G GRK4 G protein-coupled receptor kinase 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,233,066...61,331,094
Ensembl chr 3:61,079,904...61,330,290 		JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,946,289...61,961,589
Ensembl chr 3:61,946,838...61,960,473 		JBrowse link
G HGFAC HGF activator ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:60,906,839...60,916,879
Ensembl chr 3:60,906,844...60,915,280 		JBrowse link
G HTT huntingtin ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,076,934...61,221,462
Ensembl chr 3:61,079,904...61,330,290 		JBrowse link
G IDUA alpha-L-iduronidase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,517,225...91,534,593
Ensembl chr 3:91,522,035...91,534,593 		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 chr 3:62,268,027...62,304,767
Ensembl chr 3:62,267,708...62,302,136 		JBrowse link
G MAEA macrophage erythroblast attacher, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,679,084...62,718,154
Ensembl chr 3:62,682,538...62,718,071 		JBrowse link
G MFSD10 major facilitator superfamily domain containing 10 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,352,047...61,357,393
Ensembl chr 3:61,352,109...61,355,997 		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 chr 3:61,058,993...61,076,816
Ensembl chr 3:61,064,335...61,075,072 		JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,927,722...61,941,780
Ensembl chr 3:61,927,816...61,938,638 		JBrowse link
G MYL5 myosin light chain 5 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,738,518...91,743,619
Ensembl chr 3:91,738,523...91,744,297 		JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,107,060...62,113,807
Ensembl chr 3:62,108,003...62,113,737 		JBrowse link
G NELFA negative elongation factor complex member A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,147,948...62,164,039
Ensembl chr 3:62,147,948...62,164,112 		JBrowse link
G NICOL1 NELL2 interacting cell ontogeny regulator 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,119,568...62,121,981 JBrowse link
G NKX1-1 NK1 homeobox 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,634,654...62,638,111
Ensembl chr 3:62,634,783...62,638,111 		JBrowse link
G NOP14 NOP14 nucleolar protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,330,987...61,350,596
Ensembl chr 3:61,330,981...61,350,596 		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 chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G PCGF3 polycomb group ring finger 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,673,424...91,708,751
Ensembl chr 3:91,676,496...91,708,754 		JBrowse link
G PDE6B phosphodiesterase 6B ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,746,571...91,775,372
Ensembl chr 3:91,746,571...91,775,372 		JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,811,681...91,849,530
Ensembl chr 3:91,812,875...91,849,446 		JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,946,295...62,104,112
Ensembl chr 3:61,962,193...62,102,264 		JBrowse link
G RGS12 regulator of G protein signaling 12 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:60,917,033...61,011,812
Ensembl chr 3:60,917,072...61,009,131 		JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 7:41,894,726...41,903,450
Ensembl chr 7:41,895,330...41,901,173 		JBrowse link
G RNF212 ring finger protein 212 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,453,856...91,483,674
Ensembl chr 3:91,453,367...91,474,547 		JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,721,752...61,759,797
Ensembl chr 3:61,723,124...61,759,730 		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 chr 3:61,454,945...61,488,951
Ensembl chr 3:61,358,162...61,474,830 		JBrowse link
G SLBP stem-loop histone mRNA binding protein ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,386,982...62,401,541
Ensembl chr 3:62,386,977...62,400,891 		JBrowse link
G SLC26A1 solute carrier family 26 member 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,528,045...91,534,104
Ensembl chr 3:91,485,270...91,534,115 		JBrowse link
G SLC49A3 solute carrier family 49 member 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,732,589...91,738,161
Ensembl chr 3:91,731,437...91,737,753 		JBrowse link
G SPON2 spondin 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,411,245...91,421,245 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 chr 3:62,368,641...62,380,898
Ensembl chr 3:62,368,642...62,381,024 		JBrowse link
G TMEM129 transmembrane protein 129, E3 ubiquitin ligase ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,381,240...62,386,381
Ensembl chr 3:62,381,411...62,385,349 		JBrowse link
G TMEM175 transmembrane protein 175 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:91,554,001...91,576,845
Ensembl chr 3:91,553,778...91,670,930 		JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,511,676...61,535,480 JBrowse link
G UVSSA UV stimulated scaffold protein A ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:62,647,992...62,674,830
Ensembl chr 3:62,649,207...62,674,884 		JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 3:61,786,160...61,919,668
Ensembl chr 3:61,805,284...61,918,602 		JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 6:55,058,361...55,186,255
Ensembl chr 6:55,058,361...55,186,253 		JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 IAGP Cleft lip with or without cleft palate, ADAMTS20-related OMIA PMID:13875838 PMID:25798845 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr27:10,492,587...10,655,681
Ensembl chr27:10,492,301...10,675,655 		JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960 		JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: : rs17563 (p.V152A)(human)
DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant		 RGD
ClinVar		 PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495 RGD:13442497 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		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 chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		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 chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216 		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 chr 5:81,287,330...81,297,533
Ensembl chr 5:81,287,425...81,295,353 		JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:37,467,431...37,554,770
Ensembl chr 2:37,470,985...37,554,619 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar PMID:28492532 NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 no_association
susceptibility		 ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183 PMID:25129243 RGD:12910961 RGD:12910962 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453 		JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 2:84,445,526...84,457,435
Ensembl chr 2:84,380,919...84,536,818 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:57,480,935...57,514,836 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		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 chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		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 chr 9:31,453,604...31,456,060 JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899 		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 chr27:27,777,104...28,023,875
Ensembl chr27:27,777,326...28,023,987 		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 chr21:39,426,313...39,564,683
Ensembl chr21:39,427,401...39,645,585 		JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 9:52,615,349...52,631,538
Ensembl chr 9:52,615,655...52,630,836 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357 		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 chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr26:23,693,664...23,710,342
Ensembl chr26:23,693,773...23,709,832 		JBrowse link
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:49,426,228...49,449,448 JBrowse link
G B9D2 B9 domain containing 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:112,621,832...112,627,726
Ensembl chr 1:112,621,633...112,643,885 		JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:27,775,779...27,804,603
Ensembl chr 3:27,776,084...27,789,960 		JBrowse link
G BNC2 basonuclin zinc finger protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679 		JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO DNA:insertion
CTD Direct Evidence: marker/mechanism		 RGD
CTD		 PMID:9787075 RGD:11576291 NCBI chr  X:35,939,117...36,296,438
Ensembl chr  X:35,940,647...36,297,014 		JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 5:82,253,496...82,313,765
Ensembl chr 5:82,255,617...82,313,168 		JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr28:12,964,670...13,001,557
Ensembl chr28:12,965,479...13,001,512 		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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)		 CTD
RGD		 PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr33:30,016,323...30,253,180
Ensembl chr33:30,016,600...30,253,547 		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 chr14:35,468,080...35,784,621
Ensembl chr14:35,468,154...35,784,806 		JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr32:30,073,541...30,166,904
Ensembl chr32:30,073,950...30,166,295 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr19:17,403,288...17,463,143
Ensembl chr19:16,994,661...17,463,151 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
G FGF7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr30:15,555,016...15,608,230
Ensembl chr30:15,555,266...15,606,521 		JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr25:16,630,321...16,665,935
Ensembl chr25:16,632,812...16,663,550 		JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:3265608 PMID:6019437 PMID:11704759 PMID:11992261 PMID:12612583 More... NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr21:12,699,886...12,709,132
Ensembl chr21:12,699,774...12,724,923 		JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 7:65,932,114...65,962,574 JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174
Ensembl chr29:40,676,851...40,694,174 		JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132 		JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 5:56,777,854...56,879,619
Ensembl chr 5:56,779,354...56,817,295 		JBrowse link
G GOLGB1 golgin B1 ISO MouseDO NCBI chr33:24,927,631...25,025,187
Ensembl chr33:24,928,729...25,025,090 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:25741868 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr37:975,286...987,570
Ensembl chr37:976,559...985,772 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:12920575 PMID:25741868 NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 3:52,630,059...52,649,164
Ensembl chr 3:52,630,494...52,649,231 		JBrowse link
G LOC403934 cell division cycle 42 ISO MouseDO NCBI chr 2:77,153,276...77,169,947
Ensembl chr 2:77,153,095...77,199,211 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations:cds:multiples RGD PMID:30291340 RGD:155598678 NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335 		JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr 9:46,466,879...46,482,467
Ensembl chr 9:46,469,426...46,482,705 		JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
DNA:mutations, SNPs:multiple (human)		 CTD
RGD		 PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 8:38,831,672...38,889,607
Ensembl chr 8:38,831,860...38,889,453 		JBrowse link
G MTHFS methenyltetrahydrofolate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 3:57,480,935...57,514,836 JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 4:3,219,851...3,328,000
Ensembl chr 4:3,215,090...3,328,115 		JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr13:25,200,772...25,205,309
Ensembl chr13:25,200,577...25,205,309 		JBrowse link
G MYO19 myosin XIX ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:36,383,777...36,429,730
Ensembl chr 9:36,349,191...36,428,091 		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 chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 8:48,180,203...48,218,430
Ensembl chr 8:48,183,071...48,257,646 		JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr16:15,054,196...15,072,454
Ensembl chr16:15,011,344...15,072,277 		JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099 		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 chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr 9:22,793,854...22,806,321
Ensembl chr 9:22,793,792...22,806,321 		JBrowse link
G PIGW phosphatidylinositol glycan anchor biosynthesis class W ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr 9:36,419,807...36,424,596
Ensembl chr 9:36,421,216...36,424,218 		JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273 		JBrowse link
G PRMT1 protein arginine methyltransferase 1 ISO MouseDO NCBI chr 1:106,849,864...106,859,896
Ensembl chr 1:106,849,864...106,874,075 		JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 1:71,246,750...71,309,036
Ensembl chr 1:71,238,195...71,305,662 		JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr27:1,958,432...1,978,471
Ensembl chr27:1,958,204...1,978,476 		JBrowse link
G RERE arginine-glutamic acid dipeptide repeats ISO RGD PMID:33772547 RGD:329849004 NCBI chr 5:61,868,288...62,249,009
Ensembl chr 5:61,868,685...62,215,973 		JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr 1:95,209,122...95,280,956
Ensembl chr 1:95,088,745...95,280,151 		JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605 		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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149 		JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr29:40,939,498...41,026,694
Ensembl chr29:40,939,257...41,024,357 		JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903 		JBrowse link
G SHOX2 SHOX homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr23:51,484,696...51,492,586
Ensembl chr23:51,484,421...51,492,566 		JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr31:31,879,483...31,929,531
Ensembl chr31:31,879,360...31,930,359 		JBrowse link
G SIX2 SIX homeobox 2 ISO MouseDO NCBI chr10:47,399,152...47,403,503
Ensembl chr10:47,400,034...47,403,509 		JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr31:38,958,332...38,971,091
Ensembl chr31:38,967,013...38,971,094 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:22426308 PMID:25741868 PMID:28973083 NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SOX3 SRY-box transcription factor 3 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:23757202 PMID:25741868 PMID:28492532 NCBI chr  X:110,361,354...110,363,458
Ensembl chr  X:110,362,124...110,363,458 		JBrowse link
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO MouseDO NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695 		JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr22:33,366,139...33,371,102
Ensembl chr22:33,366,931...33,367,878 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
G TBX1 T-box transcription factor 1 ISO RGD PMID:25556186 PMID:30121012 RGD:155631306 RGD:155641231 NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784 		JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr21:17,819,846...20,234,096
Ensembl chr21:19,732,991...20,230,305 		JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr38:13,430,832...13,511,655
Ensembl chr38:13,429,148...13,510,242 		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 chr 8:48,920,874...48,946,037
Ensembl chr 8:48,923,423...48,945,816 		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 chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283 		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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740 		JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:67,487,927...67,497,747
Ensembl chr 7:67,487,927...67,497,747 		JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO ClinVar Annotator: match by term: CLEFT PALATE, CARDIAC DEFECTS, AND IMPAIRED INTELLECTUAL DEVELOPMENT | ClinVar Annotator: match by term: Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:24678003 PMID:25712757 PMID:25741868 More... NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335 		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 chr21:22,051,140...22,059,714
Ensembl chr21:22,051,920...22,057,632 		JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features | ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies OMIM
ClinVar		 PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 PMID:27094131 More... NCBI chr 2:76,313,742...76,375,716
Ensembl chr 2:76,156,434...76,375,632 		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 chr23:41,290,183...41,382,917
Ensembl chr23:41,290,567...41,382,807 		JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISO OMIM:119570 MouseDO NCBI chr23:13,886,869...13,946,480
Ensembl chr23:13,889,000...13,977,636 		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 chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		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 Annotator: match by term: Fifth digit syndrome ClinVar PMID:18414213 PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 6:19,366,813...19,390,082
Ensembl chr 6:19,366,331...19,380,257 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 PMID:28512736 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome | ClinVar Annotator: match by term: Fifth digit syndrome ClinVar PMID:15756273 PMID:18414213 PMID:18437052 PMID:21280140 PMID:24448499 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:10521299 PMID:16199547 PMID:21108436 PMID:21208904 PMID:24933152 More... NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22426308 NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 PMID:26543203
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 12 ClinVar PMID:22426308 PMID:25168959 PMID:25741868 NCBI chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		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 condition | ClinVar Annotator: match by term: ARID1B-related disorder | 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: 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 chr 1:46,370,621...46,800,531
Ensembl chr 1:46,372,767...46,799,104 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087 		JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:90,709,221...90,884,295
Ensembl chr 1:90,712,520...90,883,622 		JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 | ClinVar Annotator: match by term: Fifth digit syndrome | ClinVar Annotator: match by term: HYPERTRICHOSIS, HYPERKERATOSIS, MENTAL RETARDATION, AND DISTINCTIVE FACIAL FEATURES | ClinVar Annotator: match by term: Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features ClinVar PMID:9536098 PMID:15756273 PMID:17576681 PMID:18414213 PMID:18437052 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154 		JBrowse link
Coffin-Siris syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX4 SRY-box transcription factor 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 10 OMIM
ClinVar		 PMID:25741868 PMID:30661772 PMID:35232796 PMID:35887114 NCBI chr35:20,098,783...20,101,357
Ensembl chr35:20,099,773...20,101,154 		JBrowse link
Coffin-Siris syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 11 OMIM
ClinVar		 PMID:25741868 PMID:30879640 NCBI chr27:4,624,962...4,640,229
Ensembl chr27:4,626,056...4,637,907 		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 chr 1:108,344,245...108,427,133 JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 2 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 1:114,354,993...114,427,997
Ensembl chr 1:114,309,693...114,427,991 		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 chr 2:73,331,606...73,401,151
Ensembl chr 2:73,324,852...73,401,102 		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 chr25:35,120,566...35,136,560
Ensembl chr25:35,119,784...35,135,545 		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 chr26:28,688,307...28,690,400
Ensembl chr26:28,688,106...28,690,400 		JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr26:28,730,173...28,741,506
Ensembl chr26:28,727,332...28,741,415 		JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 ClinVar NCBI chr26:28,652,173...28,673,817
Ensembl chr26:28,652,974...28,673,724 		JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 3 OMIM
ClinVar		 PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr26:28,692,610...28,728,778
Ensembl chr26:28,692,899...28,728,783 		JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 4 | ClinVar Annotator: match by term: SMARCA4-related BAFopathy | ClinVar Annotator: match by term: SMARCA4-related condition OMIM
ClinVar		 PMID:9536098 PMID:10601012 PMID:15756273 PMID:16199547 PMID:17576681 More... NCBI chr20:50,175,489...50,268,865
Ensembl chr20:50,175,687...50,268,836 		JBrowse link
Coffin-Siris syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 susceptibility ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 5 ClinVar
OMIM		 PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 6 OMIM
ClinVar		 PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr27:8,411,092...8,579,735
Ensembl chr27:8,412,377...8,579,882 		JBrowse link
Coffin-Siris syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29429572 PMID:29429672 PMID:31207137 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087 		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, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 8 | ClinVar Annotator: match by term: SMARCC2-related condition OMIM
ClinVar		 PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:28492532 More... NCBI chr10:481,504...502,914
Ensembl chr10:481,817...501,551 		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 disability, autosomal dominant 27 OMIM
ClinVar		 PMID:24886874 PMID:25741868 PMID:26543203 PMID:28492532 PMID:28787104 More...
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 chr12:512,738...517,154 JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 OMIM
ClinVar		 PMID:19182162 PMID:21262397 PMID:25741868 PMID:26637975 PMID:31903734 NCBI chr 7:54,845,121...55,003,372
Ensembl chr 7:54,847,522...55,001,836 		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 chr  X:54,558,515...54,612,029
Ensembl chr  X:54,547,446...54,613,171 		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 chr 7:76,477,628...76,918,660
Ensembl chr 7:76,478,928...76,919,723 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
frontonasal dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 ISO ClinVar Annotator: match by term: Frontonasal dysplasia 3 OMIM
ClinVar		 PMID:20451171 PMID:24467814 PMID:25741868 PMID:27324866 PMID:28492532 NCBI chr15:26,838,615...26,858,786
Ensembl chr15:26,834,670...26,858,803 		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 chr14:36,523,707...36,532,180
Ensembl chr14:36,523,707...36,532,291 		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 chr21:43,903,422...43,986,778
Ensembl chr21:43,903,537...43,984,822 		JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome | ClinVar Annotator: match by term: Hardikar syndrome OMIM
ClinVar		 PMID:9286458 PMID:20301719 PMID:24728327 PMID:25741868 PMID:28492532 More... NCBI chr  X:55,487,629...55,508,941
Ensembl chr  X:55,482,013...55,509,992 		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 chr16:27,029,902...27,080,514
Ensembl chr16:27,031,588...27,078,261 		JBrowse link
INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOBP sine oculis binding protein homolog ISO ClinVar Annotator: match by term: IMPAIRED INTELLECTUAL DEVELOPMENT, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | ClinVar Annotator: match by term: Intellectual disability, anterior maxillary protrusion, and strabismus OMIM
ClinVar		 PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr12:64,653,814...64,794,144
Ensembl chr12:64,664,288...64,794,358 		JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 NCBI chr 6:54,964,666...55,027,471
Ensembl chr 6:54,959,542...55,024,104 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Isolated cleft palate ClinVar PMID:25741868 PMID:27018475 PMID:28492532 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		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 chr13:46,729,722...46,775,828
Ensembl chr13:46,730,703...46,773,278 		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 chr37:8,548,295...8,837,416
Ensembl chr37:8,551,017...8,731,149 		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 chr 8:32,435,169...32,445,093
Ensembl chr 8:32,435,863...32,445,446 		JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:82,088,090...82,506,131
Ensembl chr 1:82,090,664...82,555,145 		JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr14:7,518,871...7,527,703
Ensembl chr14:7,518,856...7,528,033 		JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 7:75,337,347...75,397,485
Ensembl chr 7:75,335,235...75,398,325 		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 chr19:50,535,622...50,684,485
Ensembl chr19:50,535,456...50,668,738 		JBrowse link
G MYH10 myosin heavy chain 10 ISO ClinVar Annotator: match by term: Jaw-winking syndrome ClinVar PMID:25741868 NCBI chr 5:33,239,800...33,360,459
Ensembl chr 5:33,241,266...33,360,934 		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 chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMK2A calcium/calmodulin dependent protein kinase II alpha ISO ClinVar Annotator: match by term: Larsen syndrome, dominant type ClinVar PMID:25741868 NCBI chr 4:58,800,818...58,865,830
Ensembl chr 4:58,800,813...58,865,830 		JBrowse link
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254 		JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896 		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 chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275 		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 chr 1:106,302,583...106,331,353
Ensembl chr 1:106,302,574...106,331,385 		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 chr12:23,089,429...23,202,176
Ensembl chr12:23,089,459...23,202,348 		JBrowse link
G CDC45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252 		JBrowse link
G CDC6 cell division cycle 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:28492532 NCBI chr 9:22,303,549...22,317,046
Ensembl chr 9:22,226,719...22,316,963 		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 chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		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:31784481 NCBI chr31:28,192,338...28,209,512 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 chr35:22,796,558...22,805,961
Ensembl chr35:22,798,386...22,805,959 		JBrowse link
G MCM3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr12:19,924,017...19,945,576
Ensembl chr12:19,920,210...19,945,605 		JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 6:9,492,654...9,499,846
Ensembl chr 6:9,492,573...9,499,855 		JBrowse link
G ORC1 origin recognition complex subunit 1 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481 		JBrowse link
G ORC4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr19:49,728,812...49,815,599
Ensembl chr19:49,728,344...49,815,604 		JBrowse link
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049 		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 chr31:28,192,338...28,209,512 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 chr15:8,965,339...8,995,527
Ensembl chr15:8,971,732...8,995,481 		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 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:22333897 More... NCBI chr19:49,728,812...49,815,599
Ensembl chr19:49,728,344...49,815,604 		JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ORC6 origin recognition complex subunit 6 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 OMIM
ClinVar		 PMID:7710253 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 More... NCBI chr15:8,421,297...8,427,972
Ensembl chr15:8,421,318...8,427,821 		JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr15:8,428,073...8,454,601
Ensembl chr15:8,428,172...8,454,049 		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: Meier-Gorlin syndrome 4 OMIM
ClinVar		 PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr 5:64,566,035...64,570,361
Ensembl chr 5:64,566,043...64,570,748 		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: Meier-Gorlin syndrome 5 OMIM
ClinVar		 PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr 9:22,303,549...22,317,046
Ensembl chr 9:22,226,719...22,316,963 		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: Meier-Gorlin syndrome 6 OMIM
ClinVar		 PMID:11477602 PMID:14973488 PMID:25741868 PMID:26637980 NCBI chr35:22,796,558...22,805,961
Ensembl chr35:22,798,386...22,805,959 		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: Meier-Gorlin syndrome 7 OMIM
ClinVar		 PMID:25741868 PMID:27374770 PMID:28492532 PMID:29036220 PMID:30986546 NCBI chr26:29,707,523...29,738,599
Ensembl chr26:29,707,564...29,739,252 		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: Meier-Gorlin syndrome 8 OMIM
ClinVar		 PMID:25741868 PMID:28198391 PMID:28492532 NCBI chr10:28,721,421...28,738,457
Ensembl chr10:28,721,660...28,738,390 		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 chr27:25,199,580...25,352,637
Ensembl chr27:25,200,418...25,388,477 		JBrowse link
G CEP290 centrosomal protein 290 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr15:29,194,449...29,281,351
Ensembl chr15:29,194,983...29,280,429 		JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 5:28,566,604...28,727,416
Ensembl chr 5:28,388,664...28,727,334 		JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 PMID:30905398 NCBI chr12:3,114,175...3,131,779
Ensembl chr12:3,115,460...3,131,919 		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 chr  X:121,866,721...121,876,088
Ensembl chr  X:121,873,218...121,932,994 		JBrowse link
G NOG noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr 9:31,453,604...31,456,060 JBrowse link
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr21:26,348,328...26,371,266
Ensembl chr21:26,348,378...26,370,380 		JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr11:23,069,731...23,075,085
Ensembl chr11:23,069,716...23,080,941 		JBrowse link
G RAB5IF RAB5 interacting factor ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:24194475 PMID:35614220 NCBI chr24:25,386,406...25,396,045
Ensembl chr24:25,386,420...25,395,713 		JBrowse link
G RLIG1 RNA 5'-phosphate and 3'-OH ligase 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:16682973 PMID:16909394 PMID:25741868 PMID:28492532 PMID:29588463 NCBI chr15:29,182,975...29,241,884
Ensembl chr15:29,182,987...29,241,861 		JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr17:59,208,989...59,214,643
Ensembl chr17:59,208,990...59,213,991 		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 chr 5:42,448,976...42,483,792
Ensembl chr 5:42,449,053...42,482,740 		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 chr14:40,267,033...40,272,212
Ensembl chr14:40,267,528...40,269,681 		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 chr14:40,273,992...40,276,975
Ensembl chr14:40,274,469...40,276,239 		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 chr12:512,738...517,154 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 chr16:9,864,938...9,949,740
Ensembl chr16:9,885,149...9,949,708 		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 chr20:52,017,261...52,136,061
Ensembl chr20:52,021,887...52,136,046 		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 chr10:1,370,340...1,377,769 JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO ClinVar Annotator: match by term: Oculomaxillofacial dysostosis OMIM
ClinVar		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr26:27,994,278...28,127,383
Ensembl chr26:28,025,987...28,125,695 		JBrowse link
Opitz GBBB syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO ClinVar Annotator: match by term: OPITZ-G SYNDROME, TYPE I OMIM
ClinVar		 PMID:9354791 PMID:11030761 PMID:12545276 PMID:15121778 PMID:15558842 More... NCBI chr  X:7,087,890...7,438,553
Ensembl chr  X:7,089,831...7,194,267 		JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:27229527 PMID:28543373 RGD:13831307 RGD:13831309 NCBI chr24:23,928,800...23,973,383
Ensembl chr24:23,928,838...23,972,651 		JBrowse link
G AXIN2 axin 2 ISO DNA:SNP:cds:rs2240308(p.P50S)(human) RGD PMID:19119171 RGD:151356509 NCBI chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530 		JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		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 chr 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878 		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 chr23:34,674,295...34,764,445
Ensembl chr23:34,700,041...34,792,035 		JBrowse link
G FLNA filamin A ISO ClinVar Annotator: match by term: Orofacial clefting ClinVar PMID:25741868 NCBI chr  X:122,058,303...122,083,467
Ensembl chr  X:122,061,455...122,083,203 		JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 4:61,779,252...61,785,666
Ensembl chr 4:61,779,259...61,783,260 		JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr10:142,039...152,537
Ensembl chr10:145,036...148,373 		JBrowse link
G HKDC1 hexokinase domain containing 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:25741868 PMID:27229527 NCBI chr 4:20,353,941...20,395,429
Ensembl chr 4:20,353,355...20,394,634 		JBrowse link
G LOC478000 phytanoyl-CoA hydroxylase-like ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip palate ClinVar PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... NCBI chr 2:23,185,901...23,206,719
Ensembl chr 2:23,185,782...23,253,497 		JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr 7:44,662,800...44,828,405
Ensembl chr 7:44,663,182...44,826,858 		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 chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437 		JBrowse link
G MEIS2 Meis homeobox 2 ISO DNA:mutations, haplotype insufficiency: : RGD PMID:24678003 RGD:155598680 NCBI chr30:4,422,451...4,627,277
Ensembl chr30:4,422,440...4,741,335 		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 chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNPs
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)		 RGD PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 NCBI chr10:28,063,626...28,122,953
Ensembl chr10:28,063,624...28,122,953 		JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr 9:22,015,402...22,036,424
Ensembl chr 9:22,015,600...22,035,442 		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 chr35:10,157,043...10,180,484
Ensembl chr35:10,157,882...10,180,270 		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 chr22:8,799,044...9,153,627
Ensembl chr22:8,798,090...9,149,296 		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 chr11:37,880,723...38,754,287
Ensembl chr11:38,372,186...38,751,972 		JBrowse link
G CDH11 cadherin 11 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 5:83,977,267...84,122,712
Ensembl chr 5:84,038,317...84,122,110 		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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
G FGF10 fibroblast growth factor 10 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192 		JBrowse link
G MAFB MAF bZIP transcription factor B ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr24:28,769,904...28,772,519
Ensembl chr24:28,770,944...28,774,948 		JBrowse link
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:110,543,140...110,569,168
Ensembl chr 1:110,543,247...110,569,143 		JBrowse link
G NIPBL NIPBL cohesin loading factor ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 4:71,583,118...71,780,986
Ensembl chr 4:71,583,732...71,780,852 		JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr 5:33,654,723...33,825,832
Ensembl chr 5:33,637,142...33,825,899 		JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 1:110,692,906...110,713,209
Ensembl chr 1:110,697,911...110,754,296 		JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar PMID:25741868 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785 		JBrowse link
G RYK receptor like tyrosine kinase ISO ClinVar Annotator: match by term: Orofacial cleft 1 ClinVar NCBI chr23:30,968,105...31,051,353
Ensembl chr23:30,968,231...31,051,605 		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 chr17:6,873,275...6,940,432
Ensembl chr17:6,873,360...6,937,789 		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 chr36:22,146,870...22,417,858
Ensembl chr36:22,147,824...22,417,826 		JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO ClinVar Annotator: match by term: Orofacial cleft 10 OMIM
ClinVar		 NCBI chr37:11,199,937...11,229,743
Ensembl chr37:11,200,590...11,229,754 		JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: BMP4-related condition | ClinVar Annotator: match by term: Orofacial cleft 11 OMIM
ClinVar		 PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557 		JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 ISO ClinVar Annotator: match by term: Orofacial cleft 15 OMIM
ClinVar		 PMID:25741868 PMID:25954033 PMID:28492532 NCBI chr 9:26,001,287...26,002,708
Ensembl chr 9:25,976,680...26,002,323 		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 chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447 		JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar		 PMID:9536098 PMID:12219090 PMID:12920575 PMID:14618417 PMID:15317890 More... NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		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 chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant ClinVar PMID:25741868 NCBI chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		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 chr 1:17,629,163...17,858,471
Ensembl chr 1:17,633,591...17,950,072 		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 chr25:8,815,681...8,938,899
Ensembl chr25:8,817,628...8,939,249 		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 chr28:14,362,407...14,367,109
Ensembl chr28:14,362,109...14,367,468 		JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Faciogenitopopliteal syndrome | ClinVar Annotator: match by term: Popliteal pterygium syndrome OMIM
ClinVar		 PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr31:36,168,172...36,196,600
Ensembl chr31:36,169,530...36,196,600 		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: Miller syndrome OMIM
ClinVar		 PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr 5:77,756,411...77,766,207
Ensembl chr 5:77,756,407...77,774,090 		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 chr27:6,756,994...6,787,733
Ensembl chr27:6,756,994...6,787,733 		JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO ClinVar Annotator: match by term: FAM20C-related condition | ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia OMIM
ClinVar		 PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752 		JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate OMIM
ClinVar		 PMID:9536098 PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 More... NCBI chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046 		JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:16613899 PMID:16885549 PMID:18025408 PMID:18981553 PMID:21989597 More... NCBI chr21:39,963,001...40,037,040
Ensembl chr21:39,962,947...40,036,981 		JBrowse link
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 7:39,289,517...39,309,026
Ensembl chr 7:39,288,147...39,307,606 		JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 ISO ClinVar Annotator: match by term: retrognathism ClinVar PMID:25741868 NCBI chr 3:62,164,888...62,228,006
Ensembl chr 3:62,167,939...62,228,035 		JBrowse link
G PRRX1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 7:28,065,570...28,138,734
Ensembl chr 7:28,068,711...28,138,787 		JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO ClinVar Annotator: match by term: Richieri Costa-Pereira syndrome OMIM
ClinVar		 PMID:24360810 NCBI chr 9:1,582,950...1,593,893
Ensembl chr 9:1,582,993...1,593,892 		JBrowse link
Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: SCAPHOCEPHALY, MAXILLARY RETRUSION, AND IMPAIRED INTELLECTUAL DEVELOPMENT OMIM
ClinVar		 PMID:7668257 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621 		JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:25741868 PMID:28492532 NCBI chr28:14,219,724...14,336,846
Ensembl chr28:14,219,893...14,301,924 		JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBM10 RNA binding motif protein 10 ISO ClinVar Annotator: match by term: TARP syndrome OMIM
ClinVar		 PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 More... NCBI chr  X:40,746,959...40,776,764
Ensembl chr  X:40,747,178...40,776,742 		JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator ISO ClinVar Annotator: match by term: Uveal coloboma-cleft lip and palate-intellectual disability | ClinVar Annotator: match by term: YAP1-related condition OMIM
ClinVar		 PMID:4997531 PMID:24462371 PMID:25741868 PMID:28492532 NCBI chr 5:29,394,760...29,495,977
Ensembl chr 5:29,394,541...29,496,251 		JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C7H1orf74 chromosome 7 C1orf74 homolog ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:14618417 NCBI chr 7:8,440,771...8,446,650
Ensembl chr 7:8,444,907...8,446,604 		JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 7:14,892,165...15,267,418
Ensembl chr 7:14,707,801...15,267,422 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 ClinVar PMID:25741868 PMID:36901693 NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Lip pit syndrome | ClinVar Annotator: match by term: Van der Woude syndrome | ClinVar Annotator: match by term: Van der Woude syndrome 1 OMIM
ClinVar		 PMID:12219090 PMID:12920575 PMID:14618417 PMID:14640121 PMID:14757865 More... NCBI chr 7:8,447,826...8,467,265
Ensembl chr 7:8,448,538...8,462,661 		JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFAP57 cilia and flagella associated protein 57 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 PMID:25741868 NCBI chr15:16,903,470...16,977,825
Ensembl chr15:16,903,470...16,977,408 		JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 OMIM
ClinVar		 PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 2:75,290,594...75,324,593
Ensembl chr 2:75,290,596...75,324,496 		JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:75,236,800...75,286,872
Ensembl chr 2:75,237,141...75,287,953 		JBrowse link
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,189,191...32,194,255
Ensembl chr 5:32,186,502...32,327,990 		JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,291,804...32,305,236
Ensembl chr 5:32,292,163...32,305,234 		JBrowse link
G ACVR2A activin A receptor type 2A ISO OMIM:261800 MouseDO NCBI chr19:49,642,429...49,726,720
Ensembl chr19:49,641,219...49,723,420 		JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr 6:2,747,288...3,875,774
Ensembl chr 6:2,748,598...3,875,611 		JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,375,152...32,383,517
Ensembl chr 5:32,375,215...32,382,929 		JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,223,985...32,225,795
Ensembl chr 5:32,224,040...32,226,168 		JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO ClinVar Annotator: match by term: WEISSENBACHER-ZWEYMULLER SYNDROME | ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome ClinVar PMID:9536098 PMID:10677296 PMID:15372529 PMID:15558753 PMID:17576681 More... NCBI chr12:2,626,829...2,656,680
Ensembl chr12:2,627,828...2,655,814 		JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,211,185...32,216,921
Ensembl chr 5:32,211,343...32,216,698 		JBrowse link
G DLX6 distal-less homeobox 6 IAGP Cleft palate 1, DLX6-related OMIA PMID:24699068 PMID:28738009 PMID:28887848 PMID:34838248 NCBI chr14:22,067,253...22,086,284
Ensembl chr14:22,067,149...22,220,799 		JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,194,326...32,201,922
Ensembl chr 5:32,194,313...32,201,857 		JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 PMID:35340043 NCBI chr28:38,489,635...38,601,800
Ensembl chr28:38,491,047...38,602,022 		JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,268,103...32,272,970 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,217,752...32,223,729
Ensembl chr 5:32,217,464...32,223,732 		JBrowse link
G FGF11 fibroblast growth factor 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,368,380...32,375,031
Ensembl chr 5:32,369,831...32,373,020 		JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,207,879...32,209,976
Ensembl chr 5:32,207,887...32,209,908 		JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,273,169...32,275,915
Ensembl chr 5:32,273,173...32,275,580 		JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,305,898...32,308,737 JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISO OMIM:261800 MouseDO NCBI chr26:31,013,607...31,132,998
Ensembl chr26:31,013,607...31,132,998 		JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,276,032...32,287,432
Ensembl chr 5:32,276,079...32,287,288 		JBrowse link
G NLGN2 neuroligin 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,338,602...32,351,546
Ensembl chr 5:32,340,335...32,352,412 		JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,202,636...32,207,738
Ensembl chr 5:32,202,825...32,207,000 		JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,326,798...32,332,076
Ensembl chr 5:32,327,475...32,331,401 		JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,403,814...32,429,717
Ensembl chr 5:32,403,829...32,429,681 		JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,238,095...32,244,022
Ensembl chr 5:32,238,095...32,244,021 		JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,400,371...32,402,843 JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Pierre Robin Syndrome ClinVar NCBI chr24:18,673,975...18,683,315
Ensembl chr24:18,674,039...18,683,229 		JBrowse link
G SOX11 SRY-box transcription factor 11 ISO OMIM:261800 MouseDO
G SOX9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr 9:8,275,049...8,278,172
Ensembl chr 9:8,275,049...8,278,172 		JBrowse link
G SPEM1 spermatid maturation 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,354,044...32,357,684
Ensembl chr 5:32,354,153...32,355,401 		JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,357,302...32,359,197
Ensembl chr 5:32,357,336...32,359,129 		JBrowse link
G TFRC transferrin receptor ISO OMIM:261800 MouseDO NCBI chr33:29,206,024...29,237,221
Ensembl chr33:29,208,609...29,238,242 		JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,365,331...32,367,785
Ensembl chr 5:32,366,159...32,367,771 		JBrowse link
G TMEM256 transmembrane protein 256 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,336,588...32,337,703 JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,309,025...32,311,010
Ensembl chr 5:32,309,129...32,310,965 		JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,320,029...32,326,829
Ensembl chr 5:32,321,272...32,326,158 		JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar PMID:25741868 PMID:28492532 NCBI chr18:46,131,925...46,148,577
Ensembl chr18:46,074,700...46,149,131 		JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,244,536...32,250,130
Ensembl chr 5:32,245,056...32,251,985 		JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Glossoptosis, micrognathia, and cleft palate ClinVar NCBI chr 5:32,384,353...32,401,658
Ensembl chr 5:32,384,353...32,399,306 		JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO ClinVar Annotator: match by term: Yunis-Varon syndrome OMIM
ClinVar		 PMID:2319578 PMID:7496176 PMID:9536098 PMID:16199547 PMID:17572665 More... NCBI chr12:66,508,801...66,632,830
Ensembl chr12:66,509,431...66,632,822 		JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis-Varon syndrome ClinVar PMID:17956977 PMID:28492532 PMID:28635952 NCBI chr 5:76,635,931...76,737,414
Ensembl chr 5:76,636,355...76,737,353 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17774
    Stomatognathic Diseases 1298
      Stomatognathic System Abnormalities 570
        Maxillofacial Abnormalities 307
          Abruzzo-Erickson syndrome 0
          Ackerman Syndrome 0
          Binder syndrome 0
          Dentofacial Deformities 0
          Jaw Abnormalities + 260
          Maxillofacial Dysostosis 0
          autosomal recessive Robinow syndrome 2
          cherubism + 47
          oblique facial clefting 1 1
Path 2
Term Annotations click to browse term
  disease 17774
    Developmental Disease 17565
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17453
        Congenital Abnormalities 7448
          Musculoskeletal Abnormalities 3258
            Craniofacial Abnormalities 2636
              Maxillofacial Abnormalities 307
                Abruzzo-Erickson syndrome 0
                Ackerman Syndrome 0
                Binder syndrome 0
                Dentofacial Deformities 0
                Jaw Abnormalities + 260
                Maxillofacial Dysostosis 0
                autosomal recessive Robinow syndrome 2
                cherubism + 47
                oblique facial clefting 1 1
paths to the root