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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Jaw Diseases
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Accession:DOID:9003876 term browser browse the term
Definition:Diseases involving the JAW.
Synonyms:exact_synonym: Jaw Disease
 primary_id: MESH:D007571;   RDO:0003565
For additional species annotation, visit the Alliance of Genome Resources.



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agnathia-otocephaly complex term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FOXH1 forkhead box H1 ISS OMIM:202650 MouseDO NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G PRRX1 paired related homeobox 1 IAGP
EXP
ClinVar Annotator: match by term: Dysgnathia complex
ClinVar Annotator: match by term: Agnathia-otocephaly complex
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12244557 PMID:21294718 PMID:22211708 PMID:22674740 PMID:23444262 More... NCBI chr 1:170,662,728...170,739,421
Ensembl chr 1:170,662,728...170,739,421
JBrowse link
G TRAPPC10 trafficking protein particle complex subunit 10 ISS OMIM:202650 MouseDO NCBI chr21:44,012,309...44,106,552
Ensembl chr21:44,012,309...44,106,552
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 IAGP
EXP
DNA:missense mutations:exon:multiple
ClinVar Annotator: match by term: AEC syndrome
ClinVar Annotator: match by term: Hay-Wells syndrome of ectodermal dysplasia
ClinVar Annotator: match by term: Ankyloblepharon-ectodermal defects, cleft lip/palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:9774969 PMID:10886756 PMID:11159940 PMID:15200513 PMID:19239083 More... RGD:11568643 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS, CLEFT PALATE, CRANIOSYNOSTOSIS, AND IMPAIRED INTELLECTUAL DEVELOPMENT
ClinVar Annotator: match by term: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development
ClinVar
OMIM
PMID:25741868 PMID:29432562 NCBI chr 4:101,023,418...101,348,295
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar
OMIM
RGD
PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... RGD:734571 NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
JBrowse link
G LOC100130744 uncharacterized LOC100130744 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 5:14,712,694...14,716,529 JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Craniometaphyseal dysplasia Jackson type
ClinVar PMID:2712793 PMID:11326272 PMID:11326338 PMID:19449425 PMID:20358596 More... NCBI chr 5:14,660,794...14,716,552
Ensembl chr 5:14,664,664...14,699,850
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP ClinVar Annotator: match by term: Craniometaphyseal dysplasia, autosomal recessive type ClinVar
OMIM
PMID:11146471 PMID:23951358 PMID:25741868 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G FOXE1 forkhead box E1 IAGP
EXP
ClinVar Annotator: match by term: Hypothyroidism, thyroidal, with spiky hair and cleft palate
ClinVar Annotator: match by term: Bamforth-Lazarus syndrome
ClinVar Annotator: match by term: Bamforth syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:2918525 PMID:9697705 PMID:12165566 PMID:16882747 PMID:16884476 More... NCBI chr 9:97,853,226...97,856,717
Ensembl chr 9:97,853,226...97,856,717
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 IAGP ClinVar Annotator: match by term: Popliteal pterygium syndrome lethal type
ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 1
ClinVar Annotator: match by term: Bartsocas-Papas syndrome
ClinVar
OMIM
PMID:10925380 PMID:15264293 PMID:22197488 PMID:22197489 PMID:23074676 More... NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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 IAGP ClinVar Annotator: match by term: BARTSOCAS-PAPAS SYNDROME 2 OMIM
ClinVar
PMID:25691407 NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
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 IAGP ClinVar Annotator: match by term: Basel-Vanagaite-Smirin-Yosef syndrome ClinVar
OMIM
PMID:25488817 PMID:25741868 PMID:25792360 PMID:28492532 PMID:30039206 NCBI chr19:49,818,289...49,840,384
Ensembl chr19:49,818,282...49,840,383
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHA5 pleckstrin homology domain containing A5 IAGP ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,733...19,376,400
JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain treatment IAGP associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chr17:50,184,096...50,201,649
Ensembl chr17:50,184,101...50,201,632
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 IAGP ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105 PMID:24033266 PMID:25741868 PMID:25980754 PMID:26123647 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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 IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar
OMIM
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: BLEPHAROCHEILODONTIC SYNDROME 2
ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2
ClinVar PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
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 IAGP ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences ClinVar
OMIM
PMID:7131178 PMID:25741868 PMID:28681861 PMID:29560417 PMID:30016436 More... NCBI chr 9:133,514,586...133,524,959
Ensembl chr 9:133,514,586...133,528,612
JBrowse link
Catel Manzke Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase IAGP ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr 2:142,877,664...143,055,833
Ensembl chr 2:142,877,657...143,055,833
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase IAGP ClinVar Annotator: match by term: Catel Manzke syndrome ClinVar
OMIM
PMID:9777339 PMID:18501694 PMID:22887726 PMID:25480037 PMID:25741868 More... NCBI chr13:94,574,054...94,596,274
Ensembl chr13:94,574,054...94,596,242
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 IAGP ClinVar Annotator: match by term: Catifa syndrome ClinVar PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 9:5,764,061...5,867,091
Ensembl chr 9:5,749,832...5,879,537
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP ClinVar Annotator: match by term: Catifa syndrome OMIM
ClinVar
PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 9:5,629,030...5,778,633
Ensembl chr 9:5,629,025...5,776,557
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 OMIM
ClinVar
PMID:2468908 PMID:14624391 PMID:14740320 PMID:15122722 PMID:16199547 More... NCBI chr 7:44,999,746...45,076,470
Ensembl chr 7:44,999,475...45,076,469
JBrowse link
G NACAD NAC alpha domain containing IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr 7:45,080,432...45,089,452
Ensembl chr 7:45,080,437...45,088,969
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 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 OMIM
ClinVar
PMID:9536098 PMID:15543491 PMID:17576681 PMID:18035376 PMID:18060436 More... NCBI chr 3:167,683,298...167,735,810
Ensembl chr 3:167,683,298...167,734,939
JBrowse link
G SERPINI1 serpin family I member 1 IAGP ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr 3:167,735,721...167,825,569
Ensembl chr 3:167,735,243...167,825,569
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 IAGP ClinVar Annotator: match by term: RIB GAP DEFECTS WITH MICROGNATHIA ClinVar
OMIM
PMID:25047197 PMID:25504470 PMID:26240113 PMID:26971886 NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
cherubism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM193A family with sequence similarity 193 member A IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,535,375...2,732,573
Ensembl chr 4:2,536,647...2,732,573
JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,228,349...2,242,121
Ensembl chr 4:2,078,998...2,242,276
JBrowse link
G MXD4 MAX dimerization protein 4 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,247,432...2,262,109
Ensembl chr 4:2,247,432...2,262,109
JBrowse link
G NAT8L N-acetyltransferase 8 like IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,059,327...2,069,089
Ensembl chr 4:2,059,327...2,069,089
JBrowse link
G POLN DNA polymerase nu IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,071,918...2,242,121
Ensembl chr 4:2,071,918...2,242,121
JBrowse link
G RIT1 Ras like without CAAX 1 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar NCBI chr 1:155,897,808...155,911,349
Ensembl chr 1:155,897,808...155,911,404
JBrowse link
G RNF4 ring finger protein 4 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,469,106...2,515,857
Ensembl chr 4:2,462,220...2,625,320
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw
ClinVar Annotator: match by term: Cherubism
ClinVar
OMIM
RGD
PMID:9536098 PMID:11381256 PMID:12900899 PMID:14577811 PMID:16786512 More... RGD:1599339 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,071...2,841,098
JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,741,648...2,756,336
Ensembl chr 4:2,741,648...2,756,342
JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 IAGP ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 4:2,269,597...2,418,645
Ensembl chr 4:2,269,582...2,418,651
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 1:93,992,834...94,121,148
Ensembl chr 1:93,992,834...94,121,148
JBrowse link
G ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif 20 ISO Cleft lip with or without cleft palate OMIA PMID:13875838 PMID:19115787 PMID:25798845 PMID:28738009 PMID:31682628 NCBI chr12:43,352,843...43,552,203
Ensembl chr12:43,353,866...43,552,203
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 1:94,168,905...94,275,068
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility IAGP DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
ClinVar
RGD
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495, RGD:13442497 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 susceptibility IAGP DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
ClinVar
RGD
PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 PMID:29805042 More... RGD:1599548 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CTNND1 catenin delta 1 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:25741868 PMID:29805042 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr16:68,225,968...68,236,175
Ensembl chr16:68,229,033...68,238,102
JBrowse link
G FGF1 fibroblast growth factor 1 IAGP DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 5:142,592,178...142,698,070
Ensembl chr 5:142,592,178...142,698,070
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP
EXP
DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
RGD
PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 PMID:12219090 RGD:1600214 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 IAGP DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant ClinVar NCBI chr14:53,953,395...53,958,769 JBrowse link
G MAFB MAF bZIP transcription factor B EXP CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr20:40,685,848...40,689,236
Ensembl chr20:40,685,848...40,689,236
JBrowse link
G MSX1 msh homeobox 1 IAGP DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
IAGP DNA:SNP:cds:1958G>A(human) RGD PMID:25129243 PMID:18261183 RGD:12910961, RGD:12910962 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility IAGP
EXP
DNA:polymorphism: :c.677C>T(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 1:11,785,723...11,806,103
Ensembl chr 1:11,785,723...11,806,455
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NOG noggin susceptibility IAGP DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627 PMID:25704602 RGD:12801482, RGD:11251786 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G NTN1 netrin 1 IAGP ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr17:9,021,510...9,244,000
Ensembl chr17:9,021,510...9,244,000
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr12:19,129,680...19,376,400
Ensembl chr12:19,129,733...19,376,400
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr11:16,777,297...17,014,423
Ensembl chr11:16,777,297...17,014,414
JBrowse link
G POMT1 protein O-mannosyltransferase 1 IAGP associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 9:131,502,902...131,523,803
Ensembl chr 9:131,502,789...131,523,806
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility IAGP
EXP
DNA:SNP: :80G>A (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:21254359 PMID:18797703 RGD:11565176 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TCN2 transcobalamin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr22:30,607,174...30,627,271
Ensembl chr22:30,607,003...30,627,271
JBrowse link
G TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:25741868 PMID:29805042 NCBI chr11:57,712,523...57,819,180
Ensembl chr11:57,712,605...57,791,586
JBrowse link
G TP63 tumor protein p63 IAGP
EXP
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16688749 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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 IAGP
EXP
ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:64,185,117...64,205,708
Ensembl chr  X:64,185,117...64,205,708
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 5:79,069,767...79,090,069
Ensembl chr 5:79,069,767...79,090,069
JBrowse link
G BNC2 basonuclin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 9:16,409,503...16,870,670
Ensembl chr 9:16,409,503...16,870,843
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO
EXP
DNA:insertion
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:9787075 PMID:9787075 RGD:11576291 NCBI chr  X:41,514,934...41,923,554
Ensembl chr  X:41,514,934...41,923,554
JBrowse link
G CBFB core-binding factor subunit beta EXP CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex EXP CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr10:100,188,300...100,229,610
Ensembl chr10:100,188,300...100,229,596
JBrowse link
G COL11A2 collagen type XI alpha 2 chain IAGP DNA:SNPs, haplotypes: :multiple
DNA:SNPs, haplotypes: :rs3129208 (human)
RGD PMID:20672350 PMID:22112025 RGD:12436724, RGD:12904711 NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility IAGP
EXP
DNA:SNP,haplotype:intron:rs1793949(human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:21,543,039...21,901,839
Ensembl chr 7:21,543,039...21,901,839
JBrowse link
G EGF epidermal growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 4:109,912,883...110,013,766
Ensembl chr 4:109,912,883...110,013,766
JBrowse link
G FGF10 fibroblast growth factor 10 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 5:44,300,247...44,389,706
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G FGF3 fibroblast growth factor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGF7 fibroblast growth factor 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:49,423,242...49,488,775
Ensembl chr15:49,423,237...49,488,775
JBrowse link
G FGF8 fibroblast growth factor 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGF9 fibroblast growth factor 9 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr13:21,671,073...21,704,501
Ensembl chr13:21,671,073...21,704,498
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 4:1,793,293...1,808,872
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FLNB filamin B susceptibility IAGP DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FZD4 frizzled class receptor 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr11:86,945,679...86,955,395
Ensembl chr11:86,945,679...86,955,395
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr18:22,169,589...22,202,528
Ensembl chr18:22,169,589...22,202,528
JBrowse link
G GDF6 growth differentiation factor 6 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,142,333...96,160,806
Ensembl chr 8:96,142,333...96,160,806
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr 7:41,960,949...42,237,209
Ensembl chr 7:41,960,949...42,264,100
JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,891,117
JBrowse link
G GOLGB1 golgin B1 ISS MouseDO NCBI chr 3:121,663,201...121,751,169
Ensembl chr 3:121,663,199...121,749,755
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 PMID:28492532 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 2:190,343,589...190,371,665
Ensembl chr 2:190,343,570...190,371,665
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
CTD
ClinVar
RGD
PMID:12920575 PMID:17041601 PMID:25741868 PMID:12219090 PMID:20672350 RGD:1600214, RGD:12436724 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KIF7 kinesin family member 7 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr15:89,627,977...89,663,086
Ensembl chr15:89,608,789...89,655,467
JBrowse link
G MEG3 maternally expressed 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:33812962 NCBI chr14:100,826,108...100,861,026
Ensembl chr14:100,779,410...100,861,031
JBrowse link
G MNT MAX network transcriptional repressor EXP CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr17:2,384,073...2,401,060
Ensembl chr17:2,384,073...2,401,104
JBrowse link
G MSX1 msh homeobox 1 IAGP
EXP
DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:12163415 PMID:12701100 PMID:15301380 PMID:12807959 RGD:5132609 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility IAGP DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr14:64,388,353...64,460,025
Ensembl chr14:64,388,031...64,463,457
JBrowse link
G MTHFS methenyltetrahydrofolate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr15:79,843,547...79,897,285
Ensembl chr15:79,833,585...79,897,379
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 1:236,794,304...236,903,981
Ensembl chr 1:236,795,260...236,921,278
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 8:127,735,434...127,742,951
Ensembl chr 8:127,735,434...127,742,951
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase EXP CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
JBrowse link
G NEK9 NIMA related kinase 9 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr14:75,079,353...75,127,637
Ensembl chr14:75,079,353...75,127,344
JBrowse link
G NFIA nuclear factor I A IAGP ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 1:61,077,227...61,462,788
Ensembl chr 1:60,865,259...61,462,788
JBrowse link
G NOS3 nitric oxide synthase 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:150,991,017...151,014,588
Ensembl chr 7:150,991,017...151,014,588
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha EXP CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G PTCH1 patched 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G RARG retinoic acid receptor gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr12:53,210,569...53,232,231
Ensembl chr12:53,210,567...53,232,980
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility IAGP DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr 9:91,722,598...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RYK receptor like tyrosine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr 3:134,157,133...134,250,859
Ensembl chr 3:134,065,303...134,250,859
JBrowse link
G SATB2 SATB homeobox 2 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
JBrowse link
G SDC2 syndecan 2 IAGP RGD PMID:18716610 RGD:12798509 NCBI chr 8:96,493,601...96,611,790
Ensembl chr 8:96,493,813...96,611,790
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr 3:158,095,905...158,106,420
Ensembl chr 3:158,095,905...158,106,420
JBrowse link
G SIM2 SIM bHLH transcription factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr21:36,699,115...36,750,219
Ensembl chr21:36,699,115...36,749,917
JBrowse link
G SLC19A1 solute carrier family 19 member 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr21:45,502,517...45,563,140
Ensembl chr21:45,493,572...45,573,365
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28973083 NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr13:80,335,976...80,341,126
Ensembl chr13:80,335,976...80,341,126
JBrowse link
G SUMO1 small ubiquitin like modifier 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TBX22 T-box transcription factor 22 IAGP cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
ClinVar
RGD
PMID:25741868 PMID:12374769 RGD:724722 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
JBrowse link
G TENM4 teneurin transmembrane protein 4 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr11:78,652,829...79,441,030
Ensembl chr11:78,652,829...79,441,030
JBrowse link
G TGFB1 transforming growth factor beta 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
JBrowse link
G TGFB2 transforming growth factor beta 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 1:218,345,336...218,444,619
Ensembl chr 1:218,345,336...218,444,619
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO
EXP
CTD Direct Evidence: marker/mechanism CTD
RGD
PMID:7493022 PMID:26971374 PMID:17097601 RGD:12801424 NCBI chr14:75,958,097...75,983,011
Ensembl chr14:75,958,097...75,983,011
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 1:165,724,291...165,768,922
Ensembl chr 1:165,724,293...165,827,755
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
JBrowse link
G TP63 tumor protein p63 EXP CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TYMS thymidylate synthetase EXP CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 IAGP ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:80,014,753...80,031,774
Ensembl chr  X:80,014,753...80,031,774
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 IAGP ClinVar Annotator: match by term: Cleft palate, cardiac defects, and mental retardation ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:24678003 PMID:25741868 PMID:27225850 More... NCBI chr15:36,889,204...37,101,311
Ensembl chr15:36,889,204...37,101,299
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 IAGP ClinVar Annotator: match by term: CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY ClinVar
OMIM
PMID:30976112 NCBI chr11:76,657,524...76,670,747
Ensembl chr11:76,657,524...76,670,747
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 IAGP ClinVar Annotator: match by term: Cleft palate, psychomotor retardation, and distinctive facial features
ClinVar Annotator: match by term: Neurodevelopmental and congenital anomalies
ClinVar
OMIM
PMID:23020937 PMID:24838796 PMID:25741868 PMID:26656649 NCBI chr 1:23,019,443...23,083,691
Ensembl chr 1:23,019,443...23,083,689
JBrowse link
cleft palate-lateral synechia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISS OMIM:119550 MouseDO NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
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 IAGP ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr 3:146,069,437...146,161,184
Ensembl chr 3:146,069,440...146,163,653
JBrowse link
G TGFBR2 transforming growth factor beta receptor 2 ISS OMIM:119570 MouseDO NCBI chr 3:30,606,472...30,694,142
Ensembl chr 3:30,606,601...30,694,142
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 IAGP
ISS
ClinVar Annotator: match by term: Coffin-Siris syndrome
OMIM:135900
ClinVar
MouseDO
PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
ClinVar
RGD
PMID:18414213 PMID:24033266 PMID:25741868 PMID:24674232 RGD:11526783 NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G KDM8 lysine demethylase 8 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr16:27,203,486...27,222,305
Ensembl chr16:27,203,508...27,221,768
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24728327 PMID:25741868 More... NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:28492532 NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AL355297.3 novel transcript, antisense to ARID1B IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 6:156,776,360...156,778,518
Ensembl chr 6:156,776,360...156,778,422
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308 PMID:25741868 NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G ARID1B AT-rich interaction domain 1B IAGP 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: ARID1B-related BAFopathy
ClinVar
OMIM
PMID:10361086 PMID:15057123 PMID:18414213 PMID:22405089 PMID:22426308 More... NCBI chr 6:156,776,026...157,210,779
Ensembl chr 6:156,776,020...157,210,779
JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr11:65,333,840...65,354,262
Ensembl chr11:65,333,852...65,354,262
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 9:2,015,347...2,193,624
Ensembl chr 9:1,980,290...2,193,624
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
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 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 10
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 10
OMIM
ClinVar
PMID:25741868 PMID:30661772 NCBI chr 6:21,593,751...21,598,619
Ensembl chr 6:21,593,751...21,598,619
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 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 11
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 11
OMIM
ClinVar
PMID:30879640 NCBI chr12:50,085,236...50,100,707
Ensembl chr12:50,085,200...50,100,707
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 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 12
ClinVar Annotator: match by term: Coffin-Siris syndrome 12
ClinVar
OMIM
PMID:25741868 PMID:25741870 PMID:33232675 NCBI chr19:47,608,196...47,703,277
Ensembl chr19:47,608,196...47,703,277
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 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr19:38,647,649...38,731,589
Ensembl chr19:38,647,649...38,731,589
JBrowse link
G ARID1A AT-rich interaction domain 1A IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar
OMIM
PMID:18414213 PMID:22426308 PMID:23010866 PMID:23556151 PMID:23637025 More... NCBI chr 1:26,696,015...26,782,104
Ensembl chr 1:26,693,236...26,782,104
JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr 8:22,114,419...22,133,384
Ensembl chr 8:22,114,419...22,133,384
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 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr22:23,834,498...23,839,348
Ensembl chr22:23,834,503...23,839,128
JBrowse link
G LOC111721701 skeletal muscle cis-regulatory module in DERL3 and SLC2A11 intergenic region IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr22:23,844,382...23,844,875 JBrowse link
G MMP11 matrix metallopeptidase 11 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr22:23,772,849...23,784,316
Ensembl chr22:23,768,226...23,784,316
JBrowse link
G SLC2A11 solute carrier family 2 member 11 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr22:23,856,934...23,886,312
Ensembl chr22:23,856,703...23,886,312
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar
OMIM
PMID:11161377 PMID:22426308 PMID:22726846 PMID:23196062 PMID:23637025 More... NCBI chr22:23,786,966...23,838,009
Ensembl chr22:23,786,931...23,838,009
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 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 16
ClinVar Annotator: match by term: SMARCA4-related BAFopathy
ClinVar
OMIM
PMID:10601012 PMID:18437052 PMID:22426308 PMID:23637025 PMID:24658001 More... NCBI chr19:10,960,999...11,062,277
Ensembl chr19:10,960,932...11,079,426
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 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 5
ClinVar Annotator: match by term: Coffin-siris syndrome 5
ClinVar
OMIM
PMID:22426308 PMID:23906836 PMID:25741868 PMID:28492532 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
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 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 6
ClinVar Annotator: match by term: Coffin-Siris syndrome 6
ClinVar
OMIM
PMID:24728327 PMID:25741868 PMID:26238514 PMID:28124119 PMID:28492532 More... NCBI chr12:45,729,706...45,908,037
Ensembl chr12:45,729,706...45,908,040
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 IAGP ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 7
ClinVar Annotator: match by term: Coffin-Siris syndrome 7
ClinVar
OMIM
PMID:25741868 PMID:29429572 PMID:31207137 NCBI chr11:65,333,840...65,354,262
Ensembl chr11:65,333,852...65,354,262
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 IAGP ClinVar Annotator: match by term: Coffin-Siris syndrome 8
ClinVar Annotator: match by term: COFFIN-SIRIS SYNDROME 8
OMIM
ClinVar
PMID:23556151 PMID:25590979 PMID:25741868 PMID:27620904 PMID:30580808 NCBI chr12:56,162,359...56,189,504
Ensembl chr12:56,162,359...56,189,567
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 IAGP ClinVar Annotator: match by term: Mental retardation, autosomal dominant 27 ClinVar
OMIM
PMID:24886874 PMID:25741868 PMID:32860008 NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I IAGP ClinVar Annotator: match by term: Symmetric circumferential skin creases, congenital, 1 OMIM
ClinVar
PMID:12239728 PMID:23324645 PMID:25741868 PMID:26637975 NCBI chr 6:30,720,352...30,725,422
Ensembl chr 6:30,717,435...30,725,538
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 IAGP ClinVar Annotator: match by term: Skin creases, congenital symmetric circumferential, 2 ClinVar
OMIM
PMID:19182162 PMID:21262397 PMID:26637975 NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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 IAGP ClinVar Annotator: match by term: Corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia ClinVar
OMIM
PMID:14556245 PMID:25741868 NCBI chr  X:70,133,447...70,166,324
Ensembl chr  X:70,133,447...70,166,324
JBrowse link
Craniomandibular Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZMPSTE24 zinc metallopeptidase STE24 ISO RGD PMID:19014358 RGD:10043096 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISS OMIM:122860 | OMIM:123000 | OMIM:218300 | OMIM:218400 | OMIM:614099 | OMIM:614378 MouseDO NCBI chr 5:14,704,800...14,871,778
Ensembl chr 5:14,704,800...14,871,778
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 IAGP ClinVar Annotator: match by term: ARTHROGRYPOSIS MULTIPLEX CONGENITA, DISTAL, TYPE IIA
ClinVar Annotator: match by term: Camptodactyly, cleft palate, and clubfoot
ClinVar
OMIM
PMID:8423615 PMID:11152147 PMID:24726473 PMID:25741868 PMID:27714920 More... NCBI chr18:10,670,237...11,149,585
Ensembl chr18:10,666,483...11,149,569
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 LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: EEC SYNDROME 3 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G LOC111162621 DeltaNp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 ClinVar NCBI chr 3:189,786,613...189,789,801 JBrowse link
G TP63 tumor protein p63 IAGP
EXP
DNA:frameshift mutation, missense mutations: :multiple
ClinVar Annotator: match by term: EEC SYNDROME 3
ClinVar Annotator: match by term: Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3
CTD Direct Evidence: marker/mechanism
DNA:nonsense mutation: :p.Q16X (human)
DNA:missense mutations:exon:p.R280C, p.R304Q (human)
DNA:missense mutation:exon:p.R279H (835G>A)
ClinVar
CTD
OMIM
RGD
PMID:8737655 PMID:9028452 PMID:9443880 PMID:10535733 PMID:10839977 More... RGD:1600403, RGD:11532814, RGD:11568642, RGD:11568640 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G TP63 tumor protein p63 ISO
IAGP
EXP
DNA:missense mutation:exon:p.R318H (mouse)
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
CTD Direct Evidence: marker/mechanism
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
ClinVar
CTD
RGD
PMID:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 More... RGD:11568074, RGD:11568639, RGD:11568638, RGD:11070288, RGD:11568075 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
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 IAGP ClinVar Annotator: match by term: Frontonasal dysplasia 3 ClinVar
OMIM
PMID:20451171 PMID:24467814 PMID:27324866 PMID:28492532 NCBI chr12:85,280,220...85,301,784
Ensembl chr12:85,280,220...85,301,784
JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 IAGP DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia
ClinVar Annotator: match by term: Osteogenesis imperfecta Levin type
DNA:missense mutations:exon:p.C356R, p.C356G (human)
ClinVar
OMIM
RGD
PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 PMID:16199547 More... RGD:11570556, RGD:11570566 NCBI chr11:22,192,485...22,283,357
Ensembl chr11:21,782,659...22,283,567
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 IAGP ClinVar Annotator: match by term: Cholestasis-pigmentary retinopathy-cleft palate syndrome ClinVar
OMIM
PMID:25741868 NCBI chr  X:71,118,596...71,142,450
Ensembl chr  X:71,118,543...71,144,103
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 IAGP ClinVar Annotator: match by term: Hartsfield syndrome
ClinVar Annotator: match by term: Holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
ClinVar
OMIM
PMID:15605412 PMID:16764984 PMID:19504604 PMID:23657145 PMID:23812909 More... NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 IAGP ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr 1:193,178,730...193,186,613
Ensembl chr 1:193,178,730...193,186,613
JBrowse link
G CDC73 cell division cycle 73 IAGP ClinVar Annotator: match by term: HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY
ClinVar Annotator: match by term: Hyperparathyroidism 2
ClinVar
OMIM
PMID:12434154 PMID:12960210 PMID:14585940 PMID:14715834 PMID:15070940 More... NCBI chr 1:193,122,031...193,254,815
Ensembl chr 1:193,121,983...193,254,815
JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha IAGP ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090 PMID:24728327 PMID:27153395 PMID:28492532 NCBI chr 4:54,229,127...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G SATB2 SATB homeobox 2 ISS
IAGP
OMIM:119540
ClinVar Annotator: match by term: Cleft palate, isolated
MouseDO
ClinVar
PMID:25326635 PMID:25533962 PMID:25741868 PMID:26596517 PMID:29023086 More... NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,500...199,471,266
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 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12183386 NCBI chr14:56,799,905...56,810,479
Ensembl chr14:56,799,905...56,816,693
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 9:75,890,646...76,362,975
Ensembl chr 9:75,890,644...76,362,975
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr18:9,334,773...9,402,420
Ensembl chr18:9,334,767...9,402,420
JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAU plasminogen activator, urokinase severity IEP protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr10:73,909,182...73,917,497
Ensembl chr10:73,909,177...73,917,496
JBrowse link
Jaw Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC APC regulator of WNT signaling pathway ISO RGD PMID:17360473 RGD:1601201 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,498...112,846,239
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 IAGP
EXP
ClinVar Annotator: match by term: Kniest dysplasia
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:4014370 PMID:4214536 PMID:7849719 PMID:7874117 PMID:7981752 More... NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 IAGP ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:71,964,395...72,013,562
Ensembl chr10:71,964,395...72,013,558
JBrowse link
G FLNB filamin B IAGP
EXP
ClinVar Annotator: match by term: Larsen syndrome, dominant type
ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FLNB-AS1 FLNB antisense RNA 1 IAGP ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders ClinVar PMID:9536098 PMID:17576681 PMID:24123776 PMID:25741868 PMID:28492532 NCBI chr 3:58,162,547...58,170,635
Ensembl chr 3:58,162,547...58,170,636
JBrowse link
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 EXP CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 1:40,258,078...40,294,180
Ensembl chr 1:40,258,041...40,294,180
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 IAGP ClinVar Annotator: match by term: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome OMIM
ClinVar
PMID:25583476 PMID:25637381 PMID:25741868 PMID:25938944 PMID:26467025 More... NCBI chr19:50,384,291...50,418,018
Ensembl chr19:50,384,204...50,418,018
JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:140,713,328...140,924,929
Ensembl chr 7:140,719,327...140,924,929
JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr 3:41,199,422...41,240,445
Ensembl chr 3:41,194,741...41,260,096
JBrowse link
G DEFB1 defensin beta 1 IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:6,870,592...6,877,936
Ensembl chr 8:6,870,592...6,877,936
JBrowse link
G DEFB4A defensin beta 4A IEP protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
Ensembl chr 8:7,894,677...7,896,716
JBrowse link
Maxillary Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr16:55,478,830...55,506,691
Ensembl chr16:55,389,700...55,506,691
JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMO smoothened, frizzled class receptor EXP CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
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 ISS OMIM:224690 | OMIM:613800 | OMIM:613803 | OMIM:613804 | OMIM:613805 MouseDO NCBI chr 6:55,753,653...55,875,590
Ensembl chr 6:55,753,653...55,875,590
JBrowse link
G CDC45 cell division cycle 45 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
JBrowse link
G CDC6 cell division cycle 6 IAGP
EXP
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21358632 NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 EXP
IAGP
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:11992493 PMID:21358632 PMID:22333897 PMID:23023959 PMID:24033266 More... NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
JBrowse link
G DONSON DNA replication fork stabilization factor DONSON IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:31784481 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G GMNN geminin DNA replication inhibitor IAGP
EXP
ClinVar Annotator: match by term: Meier-gorlin syndrome 6
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
JBrowse link
G MCM3 minichromosome maintenance complex component 3 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 6:52,264,015...52,284,742
Ensembl chr 6:52,264,014...52,284,881
JBrowse link
G MCM7 minichromosome maintenance complex component 7 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:100,092,728...100,101,397
Ensembl chr 7:100,092,728...100,101,940
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP
EXP
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
JBrowse link
G ORC4 origin recognition complex subunit 4 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
JBrowse link
G ORC6 origin recognition complex subunit 6 IAGP
EXP
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:21358632 PMID:25741868 NCBI chr16:46,689,656...46,698,394
Ensembl chr16:46,689,643...46,698,394
JBrowse link
G VPS35 VPS35 retromer complex component IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr16:46,656,132...46,689,194
Ensembl chr16:46,656,132...46,689,518
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 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr21:33,577,551...33,588,684
Ensembl chr21:33,559,542...33,588,706
JBrowse link
G ORC1 origin recognition complex subunit 1 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar
OMIM
PMID:819054 PMID:11477602 PMID:14564153 PMID:18414213 PMID:21358631 More... NCBI chr 1:52,372,829...52,404,446
Ensembl chr 1:52,372,829...52,404,423
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 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 2 ClinVar
OMIM
PMID:11477602 PMID:18414213 PMID:21358631 PMID:21358632 PMID:24033266 More... NCBI chr 2:147,930,396...148,021,551
Ensembl chr 2:147,930,396...148,021,604
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 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar
OMIM
PMID:7710253 PMID:9536098 PMID:17576681 PMID:18414213 PMID:21358632 More... NCBI chr16:46,689,656...46,698,394
Ensembl chr16:46,689,643...46,698,394
JBrowse link
G VPS35 VPS35 retromer complex component IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr16:46,656,132...46,689,194
Ensembl chr16:46,656,132...46,689,518
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 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 4 ClinVar
OMIM
PMID:11477602 PMID:11992493 PMID:16199547 PMID:18414213 PMID:21358631 More... NCBI chr16:88,803,789...88,809,258
Ensembl chr16:88,803,789...88,809,258
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 IAGP ClinVar Annotator: match by term: Meier-Gorlin syndrome 5 ClinVar
OMIM
PMID:11477602 PMID:18414213 PMID:21358632 PMID:25741868 PMID:28492532 NCBI chr17:40,287,878...40,304,657
Ensembl chr17:40,287,879...40,304,657
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 IAGP ClinVar Annotator: match by term: Meier-gorlin syndrome 6 ClinVar
OMIM
PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr 6:24,774,937...24,786,099
Ensembl chr 6:24,774,931...24,786,099
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 IAGP ClinVar Annotator: match by term: Meier-gorlin syndrome 7 ClinVar
OMIM
PMID:25741868 PMID:27374770 NCBI chr22:19,479,294...19,520,612
Ensembl chr22:19,479,457...19,520,612
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 IAGP ClinVar Annotator: match by term: MEIER-GORLIN SYNDROME 8
ClinVar Annotator: match by term: Meier-Gorlin syndrome 8
ClinVar
OMIM
PMID:25741868 PMID:28198391 NCBI chr22:35,400,133...35,454,942
Ensembl chr22:35,400,134...35,425,431
JBrowse link
MENTAL RETARDATION, 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 IAGP ClinVar Annotator: match by term: Mental retardation, anterior maxillary protrusion, and strabismus ClinVar
OMIM
PMID:17618476 PMID:18414213 PMID:21035105 PMID:25741868 PMID:28492532 NCBI chr 6:107,490,104...107,661,306
Ensembl chr 6:107,490,106...107,661,306
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 IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr12:21,797,389...21,941,863
Ensembl chr12:21,797,389...21,942,543
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr11:103,109,426...103,479,863
Ensembl chr11:103,109,410...103,479,863
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:25741868 PMID:30905398 NCBI chr 6:33,771,213...33,794,274
Ensembl chr 6:33,771,202...33,789,130
JBrowse link
G MECP2 methyl-CpG binding protein 2 IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:154,021,573...154,097,717
Ensembl chr  X:154,021,573...154,137,103
JBrowse link
G NOG noggin IAGP DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr17:56,593,699...56,595,611
Ensembl chr17:56,593,699...56,595,611
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:25741868 NCBI chr11:3,797,724...3,826,371
Ensembl chr11:3,797,724...3,826,371
JBrowse link
G PITX1 paired like homeodomain 1 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 5:135,027,734...135,034,228
Ensembl chr 5:135,027,734...135,034,813
JBrowse link
G SF3B4 splicing factor 3b subunit 4 IAGP ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 1:149,923,317...149,927,803
Ensembl chr 1:149,923,317...149,927,803
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B IAGP ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr17:16,939,081...16,972,118
Ensembl chr17:16,929,816...16,972,118
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 IAGP ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar NCBI chr 7:27,092,993...27,096,000
Ensembl chr 7:27,092,993...27,096,000
JBrowse link
G HOXA2 homeobox A2 IAGP
EXP
ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:18394579 PMID:23775976 PMID:24239177 PMID:25691070 PMID:25741868 NCBI chr 7:27,100,354...27,102,683
Ensembl chr 7:27,100,354...27,102,686
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 IAGP ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 7:138,706,294...138,799,839
Ensembl chr 7:138,706,294...138,799,560
JBrowse link
G INSR insulin receptor IAGP ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr19:7,112,257...7,294,414
Ensembl chr19:7,112,255...7,294,414
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 IAGP ClinVar Annotator: match by term: Native American myopathy
ClinVar Annotator: match by term: Congenital myopathy cleft palate and malignant hyperthermia
ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA
ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:23736855 PMID:25741868 PMID:28411587 More... NCBI chr12:57,243,453...57,251,188
Ensembl chr12:57,243,453...57,251,188
JBrowse link
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 IAGP ClinVar Annotator: match by term: Neurodevelopmental, jaw, eye, and digital syndrome OMIM
ClinVar
PMID:25741868 PMID:31402090 NCBI chr 5:171,861,549...172,006,638
Ensembl chr 5:171,861,549...172,006,873
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr 9:94,726,669...95,148,264
Ensembl chr 9:94,726,699...95,087,159
JBrowse link
G FANCC FA complementation group C IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:18830227 PMID:19557015 More... NCBI chr 9:95,099,054...95,317,730
Ensembl chr 9:95,099,054...95,426,796
JBrowse link
G GLI1 GLI family zinc finger 1 IEP RGD PMID:15308259 RGD:12801443 NCBI chr12:57,459,785...57,472,451
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GLI2 GLI family zinc finger 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G LOC100507346 uncharacterized LOC100507346 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:8658145 PMID:8981943 PMID:11941477 PMID:12204003 PMID:12925203 More... NCBI chr 9:95,463,609...95,470,019 JBrowse link
G LOC110121043 VISTA enhancer hs1258 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr 9:95,495,577...95,497,123 JBrowse link
G PTCH1 patched 1 IAGP
EXP
ISO
IEP
DNA:mutations:exon, intron:multiple
ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Basal cell nevus syndrome
CTD Direct Evidence: marker/mechanism
DNA: splice-site mutation :exon
DNA: nonsense mutation:exon:p.W399* (human)
DNA:missense mutation:exon:p.E237EK (897G>A) (human)
ClinVar
CTD
OMIM
RGD
PMID:1347096 PMID:8302318 PMID:8658145 PMID:8681379 PMID:8840969 More... RGD:12798568, RGD:13207424, RGD:13207421, RGD:12801443, RGD:12801422 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G PTCH2 patched 2 IAGP ClinVar Annotator: match by term: Gorlin syndrome ClinVar
OMIM
PMID:9536098 PMID:17576681 PMID:18285427 PMID:25741868 PMID:28166811 More... NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
JBrowse link
G PTH parathyroid hormone EXP CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr11:13,492,054...13,496,181
Ensembl chr11:13,492,054...13,496,181
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SMO smoothened, frizzled class receptor IEP RGD PMID:15308259 RGD:12801443 NCBI chr 7:129,188,633...129,213,548
Ensembl chr 7:129,188,633...129,213,545
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP ClinVar Annotator: match by term: Gorlin syndrome
ClinVar Annotator: match by term: Fifth Phacomatosis
ClinVar
OMIM
PMID:9536098 PMID:12068298 PMID:16199547 PMID:17576681 PMID:19533801 More... NCBI chr10:102,502,801...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:27069254 PMID:28492532 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G CDC42 cell division cycle 42 IAGP ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar PMID:25741868 PMID:29394990 NCBI chr 1:22,052,709...22,101,360
Ensembl chr 1:22,025,511...22,101,360
JBrowse link
G FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) IAGP ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr11:119,206,290...119,206,323 JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr11:119,305,759...119,317,130
Ensembl chr11:119,308,529...119,321,521
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
JBrowse link
G SOS1 SOS Ras/Rac guanine nucleotide exchange factor 1 IAGP ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:16267129 PMID:17143282 PMID:17143285 PMID:17586837 PMID:18651097 More... NCBI chr 2:38,981,549...39,124,868
Ensembl chr 2:38,962,206...39,124,345
JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 ClinVar
OMIM
PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 ClinVar
OMIM
PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 PMID:27868344 More... NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar
OMIM
PMID:17446348 PMID:18698078 PMID:19387008 PMID:19571318 PMID:19620960 More... NCBI chr11:119,206,339...119,308,149
Ensembl chr11:119,206,298...119,313,926
JBrowse link
G FRA11B fragile site, folic acid type, rare, fra(11)(q23.3) IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar NCBI chr11:119,206,290...119,206,323 JBrowse link
G MCAM melanoma cell adhesion molecule IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar NCBI chr11:119,305,759...119,317,130
Ensembl chr11:119,308,529...119,321,521
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 IAGP ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr12:112,418,915...112,509,918
Ensembl chr12:112,418,351...112,509,918
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 IAGP ClinVar Annotator: match by term: Oculomaxillofacial dysostosis ClinVar
OMIM
PMID:21703590 PMID:25741868 NCBI chr22:24,270,831...24,417,738
Ensembl chr22:24,270,817...24,417,739
JBrowse link
G SPECC1L-ADORA2A SPECC1L-ADORA2A readthrough (NMD candidate) IAGP ClinVar Annotator: match by term: Oculomaxillofacial dysostosis ClinVar PMID:21703590 PMID:25741868 NCBI chr22:24,270,817...24,442,360
Ensembl chr22:24,270,898...24,442,356
JBrowse link
Odontogenic Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMAD4 SMAD family member 4 ISO RGD PMID:19703995 RGD:12880040 NCBI chr18:51,030,213...51,085,042
Ensembl chr18:51,028,394...51,085,045
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 IAGP ClinVar Annotator: match by term: Opitz GBBB syndrome, type I
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:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
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 IAGP DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:28543373 PMID:27229527 RGD:13831307, RGD:13831309 NCBI chr20:34,874,942...34,927,962
Ensembl chr20:34,872,146...34,927,962
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP ClinVar Annotator: match by term: Orofacial cleft
ClinVar Annotator: match by term: Cleft lip/palate
ClinVar PMID:2449335 PMID:12800196 PMID:20921021 PMID:22470475 PMID:23197654 More... NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CEP70 centrosomal protein 70 IAGP ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chr 3:138,494,339...138,594,318
Ensembl chr 3:138,494,344...138,594,538
JBrowse link
G FST follistatin IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:53,480,338...53,487,134
Ensembl chr 5:53,480,626...53,487,134
JBrowse link
G GDF11 growth differentiation factor 11 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr12:55,743,122...55,757,264
Ensembl chr12:55,743,122...55,757,264
JBrowse link
G GSTM1 glutathione S-transferase mu 1 no_association IAGP DNA:deletion: : (human) RGD PMID:11471167 RGD:12792251 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G GSTT1 glutathione S-transferase theta 1 susceptibility IAGP DNA:deletion:cds: (human) RGD PMID:11505167 RGD:12792210
G LOXHD1 lipoxygenase homology PLAT domains 1 susceptibility IAGP DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr18:46,476,961...46,657,220
Ensembl chr18:46,476,972...46,657,220
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26833330 PMID:26963285 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 ISS 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 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYH9 myosin heavy chain 9 IAGP DNA:SNPs
DNA:SNPs: :rs3752462, rs2009930 (human)
DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
RGD PMID:18716610 PMID:17337617 PMID:19320731 PMID:19891592 RGD:12798509, RGD:12798514, RGD:12798512, RGD:12798511 NCBI chr22:36,281,280...36,387,967
Ensembl chr22:36,281,280...36,388,010
JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase IAGP DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
ClinVar
RGD
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... RGD:13831309 NCBI chr10:13,277,799...13,300,064
Ensembl chr10:13,277,796...13,302,412
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 IAGP ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr17:40,624,962...40,647,818
Ensembl chr17:40,624,962...40,648,654
JBrowse link
G TFAP2A transcription factor AP-2 alpha ISS OMIM:119530 | OMIM:600625 | OMIM:600757 | OMIM:602966 | OMIM:608371 | OMIM:608864 | OMIM:608874 | OMIM:610361 | OMIM:612858 | OMIM:613705 | OMIM:613857 | OMIM:615892 MouseDO NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN2 nectin cell adhesion molecule 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:44,846,297...44,889,223
Ensembl chr19:44,846,175...44,889,223
JBrowse link
G PVR PVR cell adhesion molecule EXP CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr19:44,643,910...44,666,162
Ensembl chr19:44,643,798...44,666,162
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 IAGP ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar
OMIM
PMID:16990542 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
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 IAGP ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar
OMIM
PMID:12404109 PMID:18252212 PMID:18305125 PMID:18771417 PMID:19249007 More... NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G LOC109433677 BMP4 promoter region IAGP ClinVar Annotator: match by term: Orofacial cleft 11 ClinVar NCBI chr14:53,953,395...53,958,769 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 IAGP ClinVar Annotator: match by term: Orofacial cleft 15 ClinVar
OMIM
PMID:25954033 NCBI chr17:49,968,970...49,974,959
Ensembl chr17:49,968,970...49,974,959
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 IAGP ClinVar Annotator: match by term: Orofacial cleft 5 ClinVar
OMIM
PMID:12807959 PMID:15354328 PMID:16327884 PMID:16868654 PMID:21448236 More... NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
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 IAGP ClinVar Annotator: match by term: Orofacial cleft 6, susceptibility to OMIM
ClinVar
PMID:9536098 PMID:12219090 PMID:12920575 PMID:15317890 PMID:15472655 More... NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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 IAGP ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC111162620 TAp63 promoter of tumor protein p63 IAGP ClinVar Annotator: match by term: Orofacial cleft 8 ClinVar NCBI chr 3:189,630,704...189,631,513 JBrowse link
G TP63 tumor protein p63 IAGP ClinVar Annotator: match by term: Orofacial cleft 8
ClinVar Annotator: match by term: Orofacial Cleft 8
ClinVar
OMIM
PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 More... NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP DNA:splice-site mutation:intron
ClinVar Annotator: match by term: Otospondylomegaepiphyseal dysplasia, autosomal dominant
ClinVar Annotator: match by term: Pierre Robin syndrome with fetal chondrodysplasia
ClinVar Annotator: match by term: Stickler syndrome, type 3
ClinVar Annotator: match by term: PIERRE ROBIN SYNDROME WITH FETAL CHONDRODYSPLASIA STICKLER SYNDROME, NONOCULAR TYPE
ClinVar Annotator: match by term: OSMED, HETEROZYGOUS
ClinVar Annotator: match by term: STICKLER SYNDROME, TYPE III
ClinVar Annotator: match by term: Weissenbacher-Zweymuller syndrome
ClinVar
OMIM
RGD
PMID:7833911 PMID:9506662 PMID:9805126 PMID:14234962 PMID:15372529 More... RGD:12904710 NCBI chr 6:33,162,692...33,193,009
Ensembl chr 6:33,162,681...33,192,499
JBrowse link
G COL2A1 collagen type II alpha 1 chain IAGP ClinVar Annotator: match by term: Stickler syndrome, type 3 ClinVar PMID:25741868 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Periapical Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:20113782 RGD:8661683 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:23829599 RGD:9491793 NCBI chr16:57,372,490...57,385,044
Ensembl chr16:57,372,477...57,385,044
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:17509411 RGD:10449488 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO RGD PMID:21793936 RGD:7205516 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
periapical granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL7 C-C motif chemokine ligand 7 IEP protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CCR3 C-C motif chemokine receptor 3 IEP RGD PMID:11683586 RGD:6893426 NCBI chr 3:46,210,699...46,266,706
Ensembl chr 3:46,130,890...46,266,706
JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCL7 C-C motif chemokine ligand 7 disease_progression IEP protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:20478458 RGD:7242892 NCBI chr16:10,866,208...10,941,562
Ensembl chr16:10,866,222...10,943,021
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:22341067 RGD:7257692 NCBI chr 2:218,125,294...218,137,253
Ensembl chr 2:218,125,289...218,137,251
JBrowse link
G FGF2 fibroblast growth factor 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 4:122,826,708...122,898,236
Ensembl chr 4:122,826,708...122,898,236
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 6:52,186,375...52,190,638
Ensembl chr 6:52,186,375...52,190,638
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chr 8:118,923,557...118,951,885
Ensembl chr 8:118,923,557...118,951,885
JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 C-C motif chemokine ligand 2 IEP mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr17:34,255,285...34,257,203
Ensembl chr17:34,255,218...34,257,203
JBrowse link
G CCR2 C-C motif chemokine receptor 2 IEP mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 3:46,354,111...46,360,940
Ensembl chr 3:46,353,864...46,360,940
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 IAGP ClinVar Annotator: match by term: Periventricular nodular heterotopia 7 ClinVar
OMIM
PMID:25741868 PMID:27694961 PMID:32238909 NCBI chr18:58,044,226...58,401,540
Ensembl chr18:58,044,226...58,401,540
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 IAGP
EXP
ClinVar Annotator: match by term: Peters plus syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:16199547 PMID:16909395 PMID:18199743 PMID:18798333 PMID:19796186 More... NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
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 IAGP ClinVar Annotator: match by term: Popliteal pterygium syndrome
ClinVar Annotator: match by term: Faciogenitopopliteal syndrome
ClinVar
OMIM
PMID:12219090 PMID:14757865 PMID:15558496 PMID:16096995 PMID:17551329 More... NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP
ISS
IEA
ClinVar Annotator: match by term: Popliteal pterygium syndrome
OMIM:119500 | OMIM:263650
ClinVar
MouseDO
NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
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) IAGP ClinVar Annotator: match by term: Miller syndrome ClinVar
OMIM
PMID:19915526 PMID:20220176 PMID:21346561 PMID:22692683 PMID:22967083 More... NCBI chr16:72,008,744...72,027,659
Ensembl chr16:72,008,588...72,027,664
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 IAGP DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
JBrowse link
Radicular Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL7 C-C motif chemokine ligand 7 IEP protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr17:34,270,221...34,272,242
Ensembl chr17:34,270,221...34,272,242
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 IAGP DNA:deletion, snps, missense mutations:multiple (human)
ClinVar Annotator: match by term: Lethal osteosclerotic bone dysplasia
ClinVar Annotator: match by term: Raine syndrome
ClinVar
OMIM
RGD
PMID:2020859 PMID:12868469 PMID:14564151 PMID:17924334 PMID:19250384 More... RGD:11560486 NCBI chr 7:192,571...260,772
Ensembl chr 7:192,571...260,772
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 IAGP
EXP
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 More... NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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 IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 NCBI chr11:17,392,498...17,476,849
Ensembl chr11:17,392,498...17,476,894
JBrowse link
G LBR lamin B receptor IAGP ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr 1:225,401,502...225,428,821
Ensembl chr 1:225,401,502...225,428,925
JBrowse link
G PRRX1 paired related homeobox 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 1:170,662,728...170,739,421
Ensembl chr 1:170,662,728...170,739,421
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 IAGP ClinVar Annotator: match by term: Richieri Costa Pereira syndrome ClinVar
OMIM
PMID:24360810 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
Scaphocephaly, Maxillary Retrusion, and Mental Retardation term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR2 fibroblast growth factor receptor 2 IAGP ClinVar Annotator: match by term: Scaphocephaly, maxillary retrusion, and mental retardation OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
Schwartz-Lelek Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 IAGP DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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 IAGP ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:28492532 NCBI chr10:101,610,664...101,695,295
Ensembl chr10:101,610,664...101,695,295
JBrowse link
suppurative periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ELANE elastase, neutrophil expressed ISO protein:increased expression:neutrophil: RGD PMID:19913217 RGD:10450566 NCBI chr19:850,997...856,250
Ensembl chr19:851,014...856,247
JBrowse link
syndromic microphthalmia 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNX3 sorting nexin 3 IAGP OMIM NCBI chr 6:108,211,222...108,261,040
Ensembl chr 6:108,211,222...108,261,246
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 IAGP ClinVar Annotator: match by term: TARP syndrome ClinVar
OMIM
PMID:5410571 PMID:20451169 PMID:21910224 PMID:24259342 PMID:25741868 NCBI chr  X:47,145,196...47,186,813
Ensembl chr  X:47,145,221...47,186,813
JBrowse link
Temporomandibular Joint Disorders term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif 5 severity ISO
IEP
mRNA:increased expression:temporomandibular joint RGD PMID:24316289 PMID:18830934 RGD:10043104, RGD:10043108 NCBI chr21:26,917,922...26,967,758
Ensembl chr21:26,917,922...26,967,088
JBrowse link
G BECN1 beclin 1 ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G COMT catechol-O-methyltransferase EXP CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
JBrowse link
G GRK5 G protein-coupled receptor kinase 5 IAGP DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr10:119,207,571...119,459,745
Ensembl chr10:119,207,571...119,459,745
JBrowse link
G GSTM1 glutathione S-transferase mu 1 susceptibility IAGP DNA:deletion: : RGD PMID:21615938 RGD:5490535 NCBI chr 1:109,687,817...109,693,745
Ensembl chr 1:109,687,814...109,709,039
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr14:61,695,513...61,748,258
Ensembl chr14:61,695,513...61,748,259
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr20:34,546,823...34,560,345
Ensembl chr20:34,546,854...34,560,345
JBrowse link
G MAP4K3 mitogen-activated protein kinase kinase kinase kinase 3 ISO protein:decreased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr 2:39,248,941...39,437,312
Ensembl chr 2:39,249,266...39,437,301
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 1:11,106,535...11,273,497
Ensembl chr 1:11,106,535...11,262,551
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility IAGP DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr 5:7,851,186...7,901,124
Ensembl chr 5:7,851,186...7,906,025
JBrowse link
G TNF tumor necrosis factor severity IEP associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr 6:31,575,565...31,578,336
Ensembl chr 6:31,575,565...31,578,336
JBrowse link
Temporomandibular Joint Dysfunction Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FCGR3A Fc gamma receptor IIIa ISO RGD PMID:20589683 RGD:5508377 NCBI chr 1:161,541,759...161,550,737
Ensembl chr 1:161,541,759...161,550,737
JBrowse link
Temporomandibular Joint Osteoarthritis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATF6 activating transcription factor 6 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 1:161,766,320...161,964,070
Ensembl chr 1:161,766,298...161,977,574
JBrowse link
G BECN1 beclin 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:42,810,132...42,824,282
Ensembl chr17:42,810,134...42,833,350
JBrowse link
G CASP12 caspase 12 (gene/pseudogene) ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr11:104,885,718...104,898,460
Ensembl chr11:104,885,718...104,898,670
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr12:57,516,588...57,520,517
Ensembl chr12:57,516,588...57,521,737
JBrowse link
G EIF2AK3 eukaryotic translation initiation factor 2 alpha kinase 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 2:88,556,741...88,627,464
Ensembl chr 2:88,556,741...88,691,518
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr17:64,039,142...64,132,469
Ensembl chr17:64,039,080...64,130,819
JBrowse link
G FAS Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr10:88,968,429...89,017,059
Ensembl chr10:88,953,813...89,029,605
JBrowse link
G HSPA5 heat shock protein family A (Hsp70) member 5 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 9:125,234,853...125,241,343
Ensembl chr 9:125,234,853...125,241,382
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr16:87,392,336...87,404,774
Ensembl chr16:87,383,953...87,404,779
JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 9:19,375,715...19,380,236
Ensembl chr 9:19,375,715...19,380,236
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 IAGP ClinVar Annotator: match by term: Coloboma, uveal, with cleft lip and palate and mental retardation
ClinVar Annotator: match by term: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation
ClinVar
OMIM
PMID:4997531 PMID:24462371 PMID:25741868 NCBI chr11:102,109,957...102,233,424
Ensembl chr11:102,110,447...102,233,424
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1orf74 chromosome 1 open reading frame 74 IAGP ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr 1:209,779,208...209,784,559
Ensembl chr 1:209,779,208...209,784,559
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E IAGP ClinVar Annotator: match by term: van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 1:181,317,712...181,808,084
Ensembl chr 1:181,317,690...181,808,084
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IEA
IAGP
ISS
OMIM:119300 | OMIM:606713
ClinVar Annotator: match by term: Van der Woude syndrome
MouseDO
ClinVar
PMID:25741868 NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP
EXP
ClinVar Annotator: match by term: Van der Woude syndrome
ClinVar Annotator: match by term: VAN DER WOUDE SYNDROME 1
ClinVar Annotator: match by term: van der Woude syndrome 1
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:12219090 PMID:12920575 PMID:14618417 PMID:14757865 PMID:15317890 More... NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
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 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:21574244 NCBI chr 1:43,172,330...43,254,358
Ensembl chr 1:43,172,330...43,254,358
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar
OMIM
PMID:11781685 PMID:16199547 PMID:20184620 PMID:22590528 PMID:22829784 More... NCBI chr 1:24,319,333...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 IAGP ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 1:24,356,999...24,415,533
Ensembl chr 1:24,356,999...24,416,934
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 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,217,125...7,225,266
Ensembl chr17:7,217,125...7,225,266
JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,336,506...7,354,944
Ensembl chr17:7,336,529...7,351,477
JBrowse link
G ACVR2A activin A receptor type 2A ISS OMIM:261800 MouseDO NCBI chr 2:147,844,517...147,930,822
Ensembl chr 2:147,844,517...147,930,826
JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 IAGP ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr 7:69,598,475...70,793,506
Ensembl chr 7:69,598,296...70,793,506
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,445,061...7,457,710
Ensembl chr17:7,445,061...7,457,710
JBrowse link
G CLDN7 claudin 7 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,259,903...7,263,213
Ensembl chr17:7,259,903...7,263,983
JBrowse link
G CTDNEP1 CTD nuclear envelope phosphatase 1 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,243,591...7,251,978
Ensembl chr17:7,243,591...7,252,491
JBrowse link
G DLX6 distal-less homeobox 6 ISO Cleft palate 1 OMIA PMID:24699068 PMID:28738009 NCBI chr 7:97,005,553...97,011,040
Ensembl chr 7:97,005,553...97,011,040
JBrowse link
G DVL2 dishevelled segment polarity protein 2 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,225,341...7,234,544
Ensembl chr17:7,225,342...7,234,517
JBrowse link
G EBF3 EBF transcription factor 3 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 NCBI chr10:129,835,233...129,964,274
Ensembl chr10:129,835,233...129,973,053
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,306,999...7,312,463
Ensembl chr17:7,306,999...7,312,463
JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,251,724...7,259,940
Ensembl chr17:7,251,416...7,259,940
JBrowse link
G FGF11 fibroblast growth factor 11 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,438,298...7,444,937
Ensembl chr17:7,438,273...7,444,937
JBrowse link
G GABARAP GABA type A receptor-associated protein IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,240,008...7,242,449
Ensembl chr17:7,240,008...7,242,449
JBrowse link
G GPS2 G protein pathway suppressor 2 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,312,661...7,315,360
Ensembl chr17:7,311,324...7,315,564
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,352,162...7,354,944
Ensembl chr17:7,351,889...7,354,944
JBrowse link
G MAPK1 mitogen-activated protein kinase 1 ISS OMIM:261800 MouseDO NCBI chr22:21,759,657...21,867,680
Ensembl chr22:21,759,657...21,867,680
JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,315,628...7,329,335
Ensembl chr17:7,315,628...7,329,393
JBrowse link
G NLGN2 neuroligin 2 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,405,492...7,419,860
Ensembl chr17:7,404,874...7,419,860
JBrowse link
G PHF23 PHD finger protein 23 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,235,032...7,239,656
Ensembl chr17:7,235,029...7,239,722
JBrowse link
G PLSCR3 phospholipid scramblase 3 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,389,727...7,394,525
Ensembl chr17:7,389,727...7,394,842
JBrowse link
G POLR2A RNA polymerase II subunit A IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,484,366...7,514,616
Ensembl chr17:7,484,366...7,514,616
JBrowse link
G SLC2A4 solute carrier family 2 member 4 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,281,718...7,288,257
Ensembl chr17:7,281,718...7,288,257
JBrowse link
G SLC35G6 solute carrier family 35 member G6 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:7,481,446...7,483,496
Ensembl chr17:7,481,446...7,483,496
JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 IAGP ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
JBrowse link
G SOX11 SRY-box transcription factor 11 ISS OMIM:261800 MouseDO NCBI chr 2:5,692,384...5,701,385
Ensembl chr 2:5,692,384...5,701,385
JBrowse link
G SOX9