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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 PRRX1 paired related homeobox 1 ISO OMIM NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,685...80,501,646
JBrowse link
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP3CA protein phosphatase 3 catalytic subunit alpha ISO OMIM NCBI chr 8:119,429,181...119,754,615
Ensembl chr 8:119,428,743...119,754,650
JBrowse link
autosomal dominant craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKH ANKH inorganic pyrophosphate transport regulator ISO OMIM NCBI chr16:4,095,582...4,271,073
Ensembl chr16:4,105,165...4,271,171
JBrowse link
G OTULIN OTU deubiquitinase with linear linkage specificity ISO 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 chr16:4,063,037...4,097,112
Ensembl chr16:4,063,071...4,097,095
JBrowse link
autosomal recessive craniometaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GJA1 gap junction protein alpha 1 ISO OMIM NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
Bamforth-Lazarus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16884476 NCBI chr13:104,946,732...105,007,568 JBrowse link
G FOXE1 forkhead box E1 ISO OMIM NCBI chr 1:239,727,769...239,732,461
Ensembl chr 1:239,727,855...239,728,976
JBrowse link
Bartsocas-Papas Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RIPK4 receptor interacting serine/threonine kinase 4 ISO OMIM NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
JBrowse link
Bartsocas-Papas Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO OMIM NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
JBrowse link
Basel-Vanagaite-Smirin-Yosef syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED25 mediator complex subunit 25 ISO OMIM NCBI chr 6:54,834,303...54,849,539
Ensembl chr 6:54,817,236...54,851,834
JBrowse link
BILATERAL CLEFT LIP term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Bilateral cleft lip ClinVar PMID:25741868 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
JBrowse link
Bisphosphonate-Associated Osteonecrosis of the Jaw term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL1A1 collagen type I alpha 1 chain treatment ISO associated with Multiple Myeloma RGD PMID:21396799 RGD:11041182 NCBI chr12:26,379,087...26,397,180
Ensembl chr12:26,379,090...26,397,003
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDH1 cadherin 1 ISO OMIM NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 ISO OMIM NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
Carey-Fineman-Ziter syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYMK myomaker, myoblast fusion factor ISO OMIM NCBI chr 1:273,101,674...273,111,721
Ensembl chr 1:273,101,674...273,111,727
JBrowse link
Catel Manzke Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KYNU kynureninase ISO ClinVar Annotator: match by term: Catel Manzke syndrome
ClinVar Annotator: match by term: MICROGNATHIA DIGITAL SYNDROME
ClinVar PMID:25741868 PMID:31923704 PMID:33942433 NCBI chr15:8,847,335...8,982,951
Ensembl chr15:8,850,665...8,982,945
JBrowse link
G TGDS TDP-glucose 4,6-dehydratase ISO OMIM NCBI chr11:63,695,612...63,716,614
Ensembl chr11:63,695,628...63,716,732
JBrowse link
CATIFA Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ERMP1 endoplasmic reticulum metallopeptidase 1 ISO ClinVar Annotator: match by term: Catifa syndrome ClinVar PMID:25741868 PMID:27878435 PMID:31932796 NCBI chr 1:216,312,827...216,382,063
Ensembl chr 1:216,312,627...216,396,325
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 ISO OMIM NCBI chr 1:216,382,179...216,494,815
Ensembl chr 1:216,318,901...216,494,793
JBrowse link
cerebral cavernous malformation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCM2 CCM2 scaffold protein ISO OMIM NCBI chr18:50,396,423...50,450,442
Ensembl chr18:50,396,423...50,450,132
JBrowse link
G NACAD NAC alpha domain containing ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 2 ClinVar PMID:17160895 PMID:28492532 NCBI chr18:50,385,116...50,394,787 JBrowse link
cerebral cavernous malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDCD10 programmed cell death 10 ISO OMIM NCBI chr13:106,517,408...106,558,959
Ensembl chr13:106,517,432...106,559,632
JBrowse link
G SERPINI1 serpin family I member 1 ISO ClinVar Annotator: match by term: Cerebral cavernous malformations 3 ClinVar PMID:18060436 PMID:20623299 PMID:28492532 NCBI chr13:106,559,326...106,636,930
Ensembl chr13:106,559,735...106,658,119
JBrowse link
cerebrocostomandibular syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO OMIM NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,072,098...33,094,603
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 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,388,442...1,523,935
Ensembl chr 8:1,388,266...1,523,932
JBrowse link
G HAUS3 HAUS augmin like complex subunit 3 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,187,149...1,198,517
Ensembl chr 8:1,168,999...1,198,514
JBrowse link
G MXD4 MAX dimerization protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,203,163...1,216,807
Ensembl chr 8:1,203,172...1,216,725
JBrowse link
G NAT8L N-acetyltransferase 8 like ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,063,917...1,072,191
Ensembl chr 8:1,064,023...1,072,191
JBrowse link
G POLN DNA polymerase nu ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,073,337...1,198,538
Ensembl chr 8:1,069,054...1,198,445
JBrowse link
G RIT1 Ras like without CAAX 1 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar NCBI chr 4:94,117,721...94,127,882
Ensembl chr 4:94,098,275...94,127,384
JBrowse link
G RNF4 ring finger protein 4 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,353,532...1,380,637
Ensembl chr 8:1,353,236...1,380,637
JBrowse link
G SH3BP2 SH3 domain binding protein 2 ISO OMIM NCBI chr 8:1,583,169...1,619,038
Ensembl chr 8:1,583,193...1,619,037
JBrowse link
G TNIP2 TNFAIP3 interacting protein 2 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,530,534...1,554,677
Ensembl chr 8:1,533,424...1,554,625
JBrowse link
G ZFYVE28 zinc finger FYVE-type containing 28 ISO ClinVar Annotator: match by term: Fibrous dysplasia of jaw ClinVar PMID:28492532 NCBI chr 8:1,225,417...1,312,938
Ensembl chr 8:1,225,306...1,312,992
JBrowse link
cleft lip term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCA4 ATP binding cassette subfamily A member 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr 4:123,202,720...123,333,044
Ensembl chr 4:123,202,632...123,331,144
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 chr 5:74,502,098...74,672,703
Ensembl chr 5:74,502,099...74,672,737
JBrowse link
G ARHGAP29 Rho GTPase activating protein 29 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar PMID:25741868 NCBI chr 4:123,082,137...123,158,275
Ensembl chr 4:123,085,922...123,158,928
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:polymorphism:cds:p.V152A(human)
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
DNA:SNP: : rs17563 (p.V152A)(human)
RGD
ClinVar
PMID:12404109 PMID:18771417 PMID:19249007 PMID:19557432 PMID:23227324 More... RGD:13442495 RGD:13442497 NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CDH1 cadherin 1 susceptibility ISO DNA:splice-site mutation: :531+2T>A (human)
ClinVar Annotator: match by term: Cleft lip with or without cleft palate
ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate
RGD
ClinVar
PMID:15831593 PMID:25741868 PMID:26123647 PMID:28492532 PMID:29348693 More... RGD:1599548 NCBI chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:25741868 PMID:29805042 NCBI chr 2:13,143,604...13,209,251
Ensembl chr 2:13,143,939...13,209,224
JBrowse link
G ESRP2 epithelial splicing regulatory protein 2 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 6:28,804,425...28,814,478
Ensembl chr 6:28,802,655...28,812,963
JBrowse link
G FGF1 fibroblast growth factor 1 ISO DNA:SNP: :rs34010 (human) RGD PMID:24613087 RGD:11567264 NCBI chr 2:144,133,846...144,241,345
Ensembl chr 2:144,133,390...144,241,323
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO DNA:SNP: :rs13317 (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:17963255 PMID:24613087 RGD:11567264 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G IRF6 interferon regulatory factor 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
van der Woude syndrome, OMIM:119300 DNA:nonsense_mutation:CDS:E92X and popliteal pterygium syndrome, OMIM:119500 DNA:nonsense_mutation:CDS:amino acid Q393X
CTD
ClinVar
RGD
PMID:12219090 PMID:17041601 PMID:18836445 PMID:20436469 PMID:28492532 RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO DNA:SNPs:introns:rs4932238,rs4932240(human) RGD PMID:26602496 RGD:11553833 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MAFB MAF bZIP transcription factor B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20436469 NCBI chr17:43,408,390...43,411,782 JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human) RGD PMID:12807959 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility
no_association
ISO DNA:SNP:cds:1958G>A(human) RGD PMID:18261183 PMID:25129243 RGD:12910961 RGD:12910962 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTHFR methylenetetrahydrofolate reductase susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:polymorphism: :c.677C>T(human)
CTD
RGD
PMID:16470725 PMID:27387868 RGD:11565179 NCBI chr 6:71,863,637...71,882,118
Ensembl chr 6:71,863,636...71,881,820
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NOG noggin susceptibility ISO DNA:SNP: :rs227731(human)
DNA:SNP: : rs227727 (human)
RGD PMID:25339627 PMID:25704602 RGD:11251786 RGD:12801482 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G NTN1 netrin 1 ISO ClinVar Annotator: match by term: Nonsyndromic cleft lip with or without cleft palate ClinVar NCBI chr12:54,089,444...54,292,191
Ensembl chr12:54,089,472...54,308,355
JBrowse link
G PLEKHA5 pleckstrin homology domain containing A5 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 5:53,760,816...54,016,979
Ensembl chr 5:53,760,818...54,017,186
JBrowse link
G PLEKHA7 pleckstrin homology domain containing A7 ISO ClinVar Annotator: match by term: Cleft Lip with or without Cleft Palate ClinVar PMID:29805042 NCBI chr 2:42,081,546...42,311,526
Ensembl chr 2:42,081,530...42,311,547
JBrowse link
G POMT1 protein O-mannosyltransferase 1 ISO associated with Walker-Warburg Syndrome;DNA:insertion, deletion:exon RGD PMID:18640039 RGD:11532685 NCBI chr 1:271,432,196...271,448,584
Ensembl chr 1:271,432,210...271,451,080
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SLC19A1 solute carrier family 19 member 1 susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP: :80G>A (human)
CTD
RGD
PMID:18797703 PMID:21254359 RGD:11565176 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16990542 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TCN2 transcobalamin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16470748 NCBI chr14:47,496,245...47,515,966
Ensembl chr14:47,496,323...47,515,965
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft Lip +/- Cleft Palate, Autosomal Dominant
CTD
ClinVar
PMID:16688749 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO OMIM NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMER1 APC membrane recruitment protein 1 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 NCBI chr  X:50,842,049...50,864,105
Ensembl chr  X:50,844,672...50,864,032
JBrowse link
G BHMT2 betaine--homocysteine S-methyltransferase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 2:87,866,631...87,882,623
Ensembl chr 2:87,866,607...87,935,253
JBrowse link
G BNC2 basonuclin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19706529 NCBI chr 1:205,925,079...206,380,911
Ensembl chr 1:205,924,881...206,372,152
JBrowse link
G CASK calcium/calmodulin dependent serine protein kinase ISO CTD Direct Evidence: marker/mechanism
DNA:insertion
CTD
RGD
PMID:9787075 RGD:11576291 NCBI chr  X:37,166,973...37,535,723
Ensembl chr  X:37,167,577...37,536,160
JBrowse link
G CBFB core-binding factor subunit beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:17022082 NCBI chr 6:27,684,320...27,750,856
Ensembl chr 6:27,684,030...27,776,751
JBrowse link
G CHUK component of inhibitor of nuclear factor kappa B kinase complex ISO CTD Direct Evidence: marker/mechanism CTD PMID:10346820 NCBI chr14:111,316,178...111,351,669
Ensembl chr14:111,307,610...111,351,712
JBrowse link
G COL11A2 collagen type XI alpha 2 chain ISO DNA:SNPs, haplotypes: :rs3129208 (human)
DNA:SNPs, haplotypes: :multiple
RGD PMID:20672350 PMID:22112025 RGD:12436724 RGD:12904711 NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,496...25,234,888
JBrowse link
G COL2A1 collagen type II alpha 1 chain susceptibility ISO CTD Direct Evidence: marker/mechanism
DNA:SNP,haplotype:intron:rs1793949(human)
CTD
RGD
PMID:15562585 PMID:20672350 RGD:12436724 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11238884 NCBI chr13:132,819,931...133,084,880
Ensembl chr13:132,820,870...133,086,843
JBrowse link
G DNAH11 dynein axonemal heavy chain 11 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 9:90,420,044...90,768,327
Ensembl chr 9:90,423,077...90,767,487
JBrowse link
G EGF epidermal growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:11399798 NCBI chr 8:112,235,607...112,330,062
Ensembl chr 8:112,234,365...112,330,046
JBrowse link
G FGF10 fibroblast growth factor 10 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr16:28,695,465...28,779,953
Ensembl chr16:28,695,469...28,777,541
JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G FGF3 fibroblast growth factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,208...3,496,532
JBrowse link
G FGF8 fibroblast growth factor 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
G FGF9 fibroblast growth factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr11:1,554,648...1,581,938
Ensembl chr11:1,554,763...1,582,408
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 PMID:29526646 NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17963255 NCBI chr 8:879,151...894,968
Ensembl chr 8:879,151...895,912
JBrowse link
G FLNB filamin B susceptibility ISO DNA:SNPs:: RGD PMID:20634891 RGD:12791026 NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
G FZD4 frizzled class receptor 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17103440 NCBI chr 9:20,714,995...20,721,460
Ensembl chr 9:20,294,885...20,721,766
JBrowse link
G GATA6 GATA binding protein 6 ISO protein:decreased expression:secondary palatal shelf (mouse) RGD PMID:27391658 RGD:13208933 NCBI chr 6:107,282,709...107,314,725
Ensembl chr 6:107,282,847...107,314,634
JBrowse link
G GDF6 growth differentiation factor 6 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,473,015...40,491,142
Ensembl chr 4:40,473,013...40,489,032
JBrowse link
G GLI3 GLI family zinc finger 3 ISO RGD PMID:18816854 RGD:12738224 NCBI chr18:52,403,463...52,697,906
Ensembl chr18:52,404,071...52,697,903
JBrowse link
G GNB1 G protein subunit beta 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:9596582 PMID:24033266 PMID:25485910 PMID:25741868 PMID:25741901 More... NCBI chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,155...63,924,535
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: nonsyndromic cleft palate ClinVar PMID:27018475 PMID:28492532 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G INPP1 inositol polyphosphate-1-phosphatase ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr15:94,956,535...94,987,286
Ensembl chr15:94,956,532...94,987,279
JBrowse link
G IRF6 interferon regulatory factor 6 ISO DNA:SNPs, haplotype: :rs9430018, rs17389541 (human)
ClinVar Annotator: match by term: Cleft palate
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
RGD
ClinVar
CTD
PMID:12219090 PMID:12920575 PMID:17041601 PMID:20672350 PMID:25741868 RGD:12436724 RGD:1600214 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G KIF7 kinesin family member 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21552264 NCBI chr 7:55,200,591...55,220,237
Ensembl chr 7:55,200,593...55,220,497
JBrowse link
G LOC102167410 5-formyltetrahydrofolate cyclo-ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 7:48,717,518...48,873,492 JBrowse link
G MNT MAX network transcriptional repressor ISO CTD Direct Evidence: marker/mechanism CTD PMID:15028671 NCBI chr12:48,469,230...48,486,737
Ensembl chr12:48,469,234...48,486,729
JBrowse link
G MSX1 msh homeobox 1 ISO DNA:mutations, SNPs:multiple (human)
CTD Direct Evidence: marker/mechanism
RGD
CTD
PMID:12163415 PMID:12701100 PMID:12807959 PMID:15301380 RGD:5132609 NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
G MTHFD1 methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1 susceptibility ISO DNA:SNP:cds:1958 G>A (rs2236225)(human) RGD PMID:18661527 RGD:12914151 NCBI chr 7:88,471,317...88,533,690
Ensembl chr 7:88,471,414...88,537,600
JBrowse link
G MTR 5-methyltetrahydrofolate-homocysteine methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr14:54,546,978...54,652,780
Ensembl chr14:54,546,981...54,652,759
JBrowse link
G MYC MYC proto-oncogene, bHLH transcription factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859337 NCBI chr 4:12,455,141...12,460,360
Ensembl chr 4:12,455,119...12,461,078
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 ISO cleft lip/palate-ectodermal dysplasia syndrome, OMIM:225060 DNA,protein:point_mutation:CDS:G554A -> amino acid W185X RGD PMID:10932188 RGD:1599795 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:27694961 NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
G NEK9 NIMA related kinase 9 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 7:98,275,973...98,322,072
Ensembl chr 7:98,275,976...98,322,469
JBrowse link
G NFIA nuclear factor I A ISO ClinVar Annotator: match by term: Cleft palate ClinVar NCBI chr 6:150,834,002...151,229,773
Ensembl chr 6:150,835,464...151,426,550
JBrowse link
G NOS3 nitric oxide synthase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr18:6,209,218...6,228,912
Ensembl chr18:6,209,156...6,228,938
JBrowse link
G PAX9 paired box 9 ISO RGD PMID:17097601 RGD:12801424 NCBI chr 7:63,324,709...63,346,326
Ensembl chr 7:63,324,710...63,346,310
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:18264099 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G PITX2 paired like homeodomain 2 ISO RGD PMID:12975342 RGD:12910559 NCBI chr 8:111,697,364...111,723,295
Ensembl chr 8:111,698,664...111,723,298
JBrowse link
G PTCH1 patched 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16405370 NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G RARG retinoic acid receptor gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:21807577 NCBI chr 5:18,436,267...18,458,625
Ensembl chr 5:18,436,267...18,458,625
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 susceptibility ISO DNA:SNPs: :rs7858435, rs10820914, and rs3905385(human) RGD PMID:22490406 RGD:11535950 NCBI chr14:2,803,840...3,035,384
Ensembl chr14:2,804,061...3,035,241
JBrowse link
G RYK receptor like tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10932185 NCBI chr13:75,285,482...75,390,314
Ensembl chr13:75,287,111...75,390,525
JBrowse link
G SATB2 SATB homeobox 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft palate
CTD
ClinVar
PMID:16960803 PMID:17377962 PMID:19170718 PMID:23925499 PMID:24301056 More... NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
G SDC2 syndecan 2 ISO RGD PMID:18716610 RGD:12798509 NCBI chr 4:40,003,618...40,129,483
Ensembl chr 4:40,002,749...40,129,697
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:17097601 RGD:12801424 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SHOX2 short stature homeobox 2 ISO RGD PMID:16141225 RGD:12859081 NCBI chr13:97,879,586...97,892,276
Ensembl chr13:97,879,281...97,890,447
JBrowse link
G SIM2 SIM bHLH transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12203729 NCBI chr13:200,354,963...200,408,890
Ensembl chr13:200,354,920...200,403,247
JBrowse link
G SLC19A1 solute carrier family 19 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr13:207,986,094...208,007,855
Ensembl chr13:207,986,098...208,007,675
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Cleft palate ClinVar PMID:25741868 PMID:28973083 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SPRY2 sprouty RTK signaling antagonist 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17576140 NCBI chr11:52,153,695...52,158,766
Ensembl chr11:52,153,704...52,160,497
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990542 NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
G TBX22 T-box transcription factor 22 ISO cleft palate with ankyloglossia, OMIM:303400
ClinVar Annotator: match by term: Cleft palate
RGD
ClinVar
PMID:12374769 PMID:25741868 RGD:724722 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
G TENM4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar NCBI chr 9:13,040,615...13,826,957 JBrowse link
G TGFB1 transforming growth factor beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr 6:49,332,169...49,348,642
Ensembl chr 6:49,332,169...49,349,048
JBrowse link
G TGFB2 transforming growth factor beta 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25450421 NCBI chr10:8,306,136...8,435,307
Ensembl chr10:8,305,424...8,405,771
JBrowse link
G TGFB3 transforming growth factor beta 3 ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:7493022 PMID:17097601 PMID:26971374 RGD:12801424 NCBI chr 7:99,133,873...99,162,239
Ensembl chr 7:99,133,511...99,162,232
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:25741868 NCBI chr 4:84,961,912...85,011,139
Ensembl chr 4:84,961,867...85,017,820
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Uranostaphyloschisis ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,151
JBrowse link
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11462173 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
G TYMS thymidylate synthetase ISO CTD Direct Evidence: marker/mechanism CTD PMID:21254359 NCBI chr 6:105,642,730...105,660,279
Ensembl chr 6:105,640,031...105,660,601
JBrowse link
Cleft Palate with Ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO ClinVar Annotator: match by term: Cleft palate with ankyloglossia ClinVar PMID:2563678 PMID:11559848 PMID:12374769 PMID:14729838 PMID:22784330 NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
cleft palate, cardiac defects, and intellectual disabillity term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MEIS2 Meis homeobox 2 ISO OMIM NCBI chr 1:134,013,642...134,223,013
Ensembl chr 1:134,013,820...134,223,012
JBrowse link
Cleft Palate, Proliferative Retinopathy, and Developmental Delay term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRRC32 leucine rich repeat containing 32 ISO OMIM NCBI chr 9:10,802,228...10,815,892
Ensembl chr 9:10,801,946...10,817,930
JBrowse link
Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G KDM1A lysine demethylase 1A ISO OMIM NCBI chr 6:80,903,407...80,971,875
Ensembl chr 6:80,903,496...80,971,595
JBrowse link
cleft soft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLOD2 procollagen-lysine,2-oxoglutarate 5-dioxygenase 2 ISO ClinVar Annotator: match by term: Cleft soft palate ClinVar PMID:25741868 NCBI chr13:86,402,673...86,513,167
Ensembl chr13:86,401,244...86,513,105
JBrowse link
Coffin-Siris syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO DNA:frameshift,nonsense mutations, haploinsufficiency:cds:
ClinVar Annotator: match by term: Coffin-Siris syndrome
ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability
RGD
ClinVar
PMID:18414213 PMID:24033266 PMID:24674232 PMID:25741868 RGD:11526783 NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G KDM8 lysine demethylase 8 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:25741868 NCBI chr 3:19,653,396...19,676,207
Ensembl chr 3:19,650,615...19,676,148
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin Siris/Intellectual Disability ClinVar PMID:18414213 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:9536098 PMID:17576681 PMID:18414213 PMID:24728327 PMID:25741868 More... NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome ClinVar PMID:28492532 NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
Coffin-Siris syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID1A AT-rich interaction domain 1A ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22426308 PMID:25741868 NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G ARID1B AT-rich interaction domain 1B ISO OMIM NCBI chr 1:9,791,627...10,227,381
Ensembl chr 1:9,791,629...10,227,947
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 PMID:29429572 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,331...6,886,467
JBrowse link
G SMARCA2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:22366787 PMID:22426308 PMID:22426309 PMID:25724810 PMID:25741868 NCBI chr 1:219,624,773...219,815,438
Ensembl chr 1:219,573,535...219,815,421
JBrowse link
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Coffin-Siris syndrome 1 ClinVar PMID:25741868 NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
Coffin-Siris Syndrome 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX4 SRY-box transcription factor 4 ISO OMIM NCBI chr 7:16,886,834...16,895,488 JBrowse link
Coffin-Siris Syndrome 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCD1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 ISO OMIM NCBI chr 5:15,992,348...16,005,778
Ensembl chr 5:15,992,459...16,005,778
JBrowse link
Coffin-Siris Syndrome 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BICRA BRD4 interacting chromatin remodeling complex associated protein ISO OMIM NCBI chr 6:53,339,166...53,416,834
Ensembl chr 6:53,339,192...53,415,937
JBrowse link
Coffin-Siris syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN4 actinin alpha 4 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:16251236 PMID:18594871 PMID:19956976 PMID:21680739 PMID:22732337 More... NCBI chr 6:47,493,834...47,565,999
Ensembl chr 6:47,493,882...47,569,609
JBrowse link
G ARID1A AT-rich interaction domain 1A ISO OMIM NCBI chr 6:84,049,729...84,124,302
Ensembl chr 6:84,049,365...84,123,384
JBrowse link
G HR HR lysine demethylase and nuclear receptor corepressor ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 14 ClinVar PMID:21919222 PMID:23548463 PMID:25741868 NCBI chr14:6,386,900...6,404,968
Ensembl chr14:6,386,902...6,407,032
JBrowse link
Coffin-Siris syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DERL3 derlin 3 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr14:49,871,077...49,875,022
Ensembl chr14:49,871,218...49,877,683
JBrowse link
G MMP11 matrix metallopeptidase 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr14:49,907,684...49,917,494
Ensembl chr14:49,907,694...49,917,469
JBrowse link
G SLC2A11 solute carrier family 2 member 11 ISO ClinVar Annotator: match by term: Mental retardation, autosomal dominant 15 ClinVar NCBI chr14:49,845,481...49,864,912
Ensembl chr14:49,845,319...49,863,188
JBrowse link
G SMARCB1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 ISO OMIM NCBI chr14:49,874,981...49,906,043
Ensembl chr14:49,874,984...49,906,048
JBrowse link
Coffin-Siris syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO OMIM NCBI chr 2:69,717,175...69,810,301
Ensembl chr 2:69,662,238...69,810,298
JBrowse link
Coffin-Siris Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO OMIM NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,784,426...21,807,170
JBrowse link
Coffin-Siris syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARID2 AT-rich interaction domain 2 ISO OMIM NCBI chr 5:76,637,385...76,800,155
Ensembl chr 5:76,637,202...76,847,316
JBrowse link
Coffin-Siris Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DPF2 double PHD fingers 2 ISO OMIM NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,331...6,886,467
JBrowse link
Coffin-Siris Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMARCC2 SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily c member 2 ISO OMIM NCBI chr 5:21,563,426...21,586,790
Ensembl chr 5:21,563,402...21,586,727
JBrowse link
Coffin-Siris syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SOX11 SRY-box transcription factor 11 ISO OMIM NCBI chr 3:129,797,438...129,800,568
Ensembl chr 3:129,798,704...129,800,329
JBrowse link
congenital symmetric circumferential skin creases 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TUBB tubulin beta class I ISO OMIM NCBI chr 7:23,247,827...23,252,240
Ensembl chr 7:23,245,743...23,294,218
JBrowse link
congenital symmetric circumferential skin creases 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPRE2 microtubule associated protein RP/EB family member 2 ISO OMIM NCBI chr 6:118,816,967...118,987,762
Ensembl chr 6:118,817,947...119,019,458
JBrowse link
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IGBP1 immunoglobulin binding protein 1 ISO OMIM NCBI chr  X:56,173,773...56,206,121 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 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
distal arthrogryposis type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PIEZO2 piezo type mechanosensitive ion channel component 2 ISO OMIM NCBI chr 6:97,644,115...97,945,693
Ensembl chr 6:97,643,366...97,944,418
JBrowse link
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
EEC syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome
DNA:missense mutation:exon:p.A346G (c.1037C>G) (human)
DNA:missense mutation:exon:p.R318H (mouse)
DNA:missense mutations: :multiple
DNA:missense mutation:exon:p.R280C (955C>T) (human)
DNA:frameshift mutation, missense mutations:exon:multiple
CTD
ClinVar
RGD
PMID:8737655 PMID:9443880 PMID:10535733 PMID:10839977 PMID:11462173 More... RGD:11070288 RGD:11568074 RGD:11568075 RGD:11568638 RGD:11568639 NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Familial Cystic Parathyroid Adenomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC73 cell division cycle 73 ISO ClinVar Annotator: match by term: Cystic parathyroid adenoma ClinVar PMID:12434154 NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
Frontonasal Dysplasia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ALX1 ALX homeobox 1 ISO OMIM NCBI chr 5:96,761,683...96,785,125
Ensembl chr 5:96,762,592...96,784,972
JBrowse link
gnathodiaphyseal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANO5 anoctamin 5 ISO OMIM NCBI chr 2:37,171,402...37,256,204
Ensembl chr 2:37,171,401...37,255,811
JBrowse link
Hardikar Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MED12 mediator complex subunit 12 ISO OMIM NCBI chr  X:57,150,884...57,174,367
Ensembl chr  X:57,150,578...57,175,352
JBrowse link
Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FGFR1 fibroblast growth factor receptor 1 ISO OMIM NCBI chr15:48,053,895...48,106,634
Ensembl chr15:48,053,340...48,106,746
JBrowse link
Hyperparathyroidism 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GALT2 beta-1,3-galactosyltransferase 2 ISO ClinVar Annotator: match by term: Hyperparathyroidism 2 ClinVar PMID:25637381 NCBI chr10:613,464...623,587
Ensembl chr10:613,608...624,131
JBrowse link
G CDC73 cell division cycle 73 ISO OMIM NCBI chr10:575,075...667,618
Ensembl chr10:575,074...667,434
JBrowse link
isolated cleft palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRA platelet derived growth factor receptor alpha ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:22473090 PMID:24728327 PMID:27153395 PMID:28492532 NCBI chr 8:40,966,568...41,021,440
Ensembl chr 8:40,967,493...41,021,442
JBrowse link
G SATB2 SATB homeobox 2 ISO ClinVar Annotator: match by term: Cleft palate, isolated ClinVar PMID:25326635 PMID:25533962 PMID:25741868 PMID:26596517 PMID:29023086 More... NCBI chr15:102,962,635...103,172,224
Ensembl chr15:102,964,404...103,154,630
JBrowse link
Jaw Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OTX2 orthodenticle homeobox 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12183386 NCBI chr 1:186,028,575...186,039,026
Ensembl chr 1:186,028,575...186,038,229
JBrowse link
G PCSK5 proprotein convertase subtilisin/kexin type 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18519639 NCBI chr 1:228,854,587...229,308,054
Ensembl chr 1:228,854,595...229,308,906
JBrowse link
G POLD1 DNA polymerase delta 1, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:23770608 NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,861...55,272,166
JBrowse link
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16580747 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G TWSG1 twisted gastrulation BMP signaling modulator 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15013800 NCBI chr 6:98,629,116...98,678,322
Ensembl chr 6:98,623,439...98,678,258
JBrowse link
Jaw Cysts term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PLAU plasminogen activator, urokinase severity ISO protein:increased expression:cyst, liquid (human) RGD PMID:20646237 RGD:6484123 NCBI chr14:76,629,313...76,635,173
Ensembl chr14:76,629,299...76,635,172
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 2:116,913,354...116,985,303
Ensembl chr 2:116,812,582...117,034,912
JBrowse link
Kniest dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain ISO OMIM NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHST3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr14:74,850,931...74,891,527
Ensembl chr14:74,850,931...74,891,529
JBrowse link
G FLNB filamin B ISO OMIM NCBI chr13:39,789,259...39,938,751
Ensembl chr13:39,789,703...39,938,750
JBrowse link
Mandibular Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12913070 NCBI chr 6:96,008,307...96,057,131
Ensembl chr 6:96,008,455...96,062,951
JBrowse link
Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLD1 DNA polymerase delta 1, catalytic subunit ISO OMIM NCBI chr 6:55,247,799...55,272,087
Ensembl chr 6:55,247,861...55,272,166
JBrowse link
Mandibular Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BRAF B-Raf proto-oncogene, serine/threonine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr18:8,957,963...9,132,558
Ensembl chr18:8,957,959...9,132,553
JBrowse link
G CTNNB1 catenin beta 1 ISO mRNA:increased expression:small intestine RGD PMID:17259108 RGD:1599632 NCBI chr13:25,163,550...25,208,314
Ensembl chr13:25,137,173...25,208,311
JBrowse link
G DEFB1 defensin beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265
G DEFB1 defensin, beta 1 ISO protein:increased expression:respiratory system fluid/secretion RGD PMID:11934727 RGD:4892265 NCBI chr15:38,076,057...38,077,899
Ensembl chr15:38,076,033...38,077,921
JBrowse link
Maxillary Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MMP2 matrix metallopeptidase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19070762 NCBI chr 6:30,059,247...30,087,031
Ensembl chr 6:30,058,594...30,086,982
JBrowse link
Maxillary Neoplasms term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SMO smoothened, frizzled class receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:24859340 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
Meier-Gorlin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC45 cell division cycle 45 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
G CDC6 cell division cycle 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593
JBrowse link
G CDT1 chromatin licensing and DNA replication factor 1 ISO 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 chr 6:893,377...897,706 JBrowse link
G DONSON DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:31784481 NCBI chr13:197,192,661...197,204,243
Ensembl chr13:197,193,656...197,248,406
JBrowse link
G GMNN geminin DNA replication inhibitor ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-gorlin syndrome 6
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:11477602 PMID:14973488 PMID:26637980 NCBI chr 7:19,585,968...19,595,346
Ensembl chr 7:19,585,999...19,599,879
JBrowse link
G MCM3 minichromosome maintenance complex component 3 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 7:46,084,648...46,104,425
Ensembl chr 7:46,084,661...46,104,375
JBrowse link
G MCM7 minichromosome maintenance complex component 7 ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 PMID:33654309 NCBI chr 3:8,005,890...8,014,047
Ensembl chr 3:8,005,900...8,014,053
JBrowse link
G ORC1 origin recognition complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:819054 PMID:11477602 PMID:14564153 PMID:21358631 PMID:21358632 More... NCBI chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,358...159,853,802
JBrowse link
G ORC4 origin recognition complex subunit 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21358631 PMID:21358632 NCBI chr15:4,096,539...4,176,332
Ensembl chr15:4,096,646...4,171,845
JBrowse link
G ORC6 origin recognition complex subunit 6 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Meier-Gorlin syndrome
CTD
ClinVar
PMID:21358632 PMID:25741868 NCBI chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,903...37,944,045
JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome ClinVar PMID:25741868 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,203
JBrowse link
Meier-Gorlin syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DONSON DNA replication fork stabilization factor DONSON ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 1 ClinVar PMID:25741868 NCBI chr13:197,192,661...197,204,243
Ensembl chr13:197,193,656...197,248,406
JBrowse link
G ORC1 origin recognition complex subunit 1 ISO OMIM NCBI chr 6:159,819,302...159,852,306
Ensembl chr 6:159,819,358...159,853,802
JBrowse link
Meier-Gorlin syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ORC4 origin recognition complex subunit 4 ISO OMIM NCBI chr15:4,096,539...4,176,332
Ensembl chr15:4,096,646...4,171,845
JBrowse link
Meier-Gorlin syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ORC6 origin recognition complex subunit 6 ISO OMIM NCBI chr 6:37,934,903...37,943,950
Ensembl chr 6:37,934,903...37,944,045
JBrowse link
G VPS35 VPS35 retromer complex component ISO ClinVar Annotator: match by term: Meier-Gorlin syndrome 3 ClinVar PMID:25741868 NCBI chr 6:37,944,099...37,977,091
Ensembl chr 6:37,944,127...37,986,203
JBrowse link
Meier-Gorlin syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDT1 chromatin licensing and DNA replication factor 1 ISO OMIM NCBI chr 6:893,377...897,706 JBrowse link
Meier-Gorlin syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC6 cell division cycle 6 ISO OMIM NCBI chr12:22,101,281...22,118,441
Ensembl chr12:22,101,282...22,118,593
JBrowse link
Meier-Gorlin syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GMNN geminin DNA replication inhibitor ISO OMIM NCBI chr 7:19,585,968...19,595,346
Ensembl chr 7:19,585,999...19,599,879
JBrowse link
Meier-Gorlin syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC45 cell division cycle 45 ISO OMIM NCBI chr14:51,133,111...51,158,604
Ensembl chr14:51,133,408...51,158,606
JBrowse link
Meier-Gorlin syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MCM5 minichromosome maintenance complex component 5 ISO OMIM
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 ISO OMIM NCBI chr 1:73,549,778...73,722,689
Ensembl chr 1:73,549,307...73,722,403
JBrowse link
Micrognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC9 ATP binding cassette subfamily C member 9 ISO ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:22608503 PMID:22610116 PMID:25741868 PMID:26871653 PMID:28492532 NCBI chr 5:51,536,531...51,673,583
Ensembl chr 5:51,536,526...51,673,583
JBrowse link
G DYNC2H1 dynein cytoplasmic 2 heavy chain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 9:33,720,920...34,039,954
Ensembl chr 9:33,720,877...34,039,950
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:25741868 PMID:30905398 NCBI chr 7:29,980,394...29,997,077
Ensembl chr 7:29,980,395...29,997,356
JBrowse link
G MECP2 methyl-CpG binding protein 2 ISO ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:11007980 PMID:11071498 PMID:11309367 PMID:11772708 PMID:11805248 More... NCBI chr  X:124,735,523...124,789,063
Ensembl chr  X:124,735,656...124,789,110
JBrowse link
G NOG noggin ISO DNA:SNP:rs1348322(human) RGD PMID:20645637 RGD:12801465 NCBI chr12:32,891,321...32,892,206
Ensembl chr12:32,891,321...32,892,206
JBrowse link
G PGAP2 post-GPI attachment to proteins 2 ISO ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:25741868 NCBI chr 9:6,294,471...6,319,317
Ensembl chr 9:6,291,929...6,319,669
JBrowse link
G PITX1 paired like homeodomain 1 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 2:137,200,424...137,212,500
Ensembl chr 2:137,198,870...137,206,979
JBrowse link
G SF3B4 splicing factor 3b subunit 4 ISO ClinVar Annotator: match by term: Micrognathia ClinVar PMID:25741868 NCBI chr 4:99,123,564...99,129,218
Ensembl chr 4:99,123,585...99,129,218
JBrowse link
G TNFRSF13B TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Mandibular micrognathia ClinVar PMID:16007086 PMID:16007087 PMID:16630947 PMID:16782407 PMID:17192819 More... NCBI chr12:61,245,976...61,270,154
Ensembl chr12:61,246,062...61,270,151
JBrowse link
Microtia, Hearing Impairment, and Cleft Palate term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G HOXA1 homeobox A1 ISO ClinVar Annotator: match by term: Microtia, hearing impairment, and cleft palate ClinVar NCBI chr18:45,477,561...45,480,306
Ensembl chr18:45,477,548...45,480,413
JBrowse link
G HOXA2 homeobox A2 ISO OMIM NCBI chr18:45,470,079...45,473,345
Ensembl chr18:45,470,419...45,473,347
JBrowse link
Native American myopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V0A4 ATPase H+ transporting V0 subunit a4 ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr18:10,868,208...10,966,801
Ensembl chr18:10,901,568...10,966,410
JBrowse link
G INSR insulin receptor ISO ClinVar Annotator: match by term: MYOPATHY, CONGENITAL, WITH MYOPATHIC FACIES, SCOLIOSIS, AND MALIGNANT HYPERTHERMIA ClinVar PMID:2040394 PMID:8432414 PMID:8900242 PMID:10084586 PMID:11463381 More... NCBI chr 2:71,797,209...71,939,923
Ensembl chr 2:71,797,204...71,936,139
JBrowse link
G STAC3 SH3 and cysteine rich domain 3 ISO OMIM NCBI chr 5:22,549,008...22,556,330
Ensembl chr 5:22,549,008...22,556,194
JBrowse link
NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW11 F-box and WD repeat domain containing 11 ISO OMIM NCBI chr16:52,212,401...52,337,893
Ensembl chr16:52,212,655...52,337,913
JBrowse link
nevoid basal cell carcinoma syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AOPEP aminopeptidase O (putative) ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:17703323 PMID:19557015 PMID:22382802 PMID:28492532 NCBI chr10:27,078,115...27,472,347
Ensembl chr10:27,078,113...27,472,310
JBrowse link
G FANCC FA complementation group C ISO ClinVar Annotator: match by term: Gorlin syndrome ClinVar PMID:16301862 PMID:16419085 PMID:17703323 PMID:18830227 PMID:19557015 More... NCBI chr10:26,796,546...27,055,271 JBrowse link
G GLI1 GLI family zinc finger 1 ISO RGD PMID:15308259 RGD:12801443 NCBI chr 5:22,736,325...22,747,421
Ensembl chr 5:22,732,516...22,747,421
JBrowse link
G GLI2 GLI family zinc finger 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16936257 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G PTCH1 patched 1 ISO OMIM NCBI chr10:26,627,165...26,703,225
Ensembl chr10:26,627,325...26,703,225
JBrowse link
G PTCH2 patched 2 ISO OMIM NCBI chr 6:166,491,649...166,513,137
Ensembl chr 6:166,495,763...166,512,648
JBrowse link
G PTH parathyroid hormone ISO CTD Direct Evidence: marker/mechanism CTD PMID:24803734 NCBI chr 2:45,757,398...45,760,433
Ensembl chr 2:45,757,398...45,760,415
JBrowse link
G SHH sonic hedgehog signaling molecule ISO RGD PMID:9115210 RGD:12802345 NCBI chr18:2,546,202...2,555,484
Ensembl chr18:2,545,718...2,555,484
JBrowse link
G SMO smoothened, frizzled class receptor ISO RGD PMID:15308259 RGD:12801443 NCBI chr18:19,450,730...19,478,796
Ensembl chr18:19,450,734...19,479,374
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling ISO OMIM NCBI chr14:113,500,001...113,628,064
Ensembl chr14:113,500,842...113,614,517
JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder
ClinVar Annotator: match by term: Noonan-like syndrome
ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:27069254 PMID:28492532 More... NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G CDC42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar PMID:25741868 PMID:29394990 NCBI chr 6:80,035,034...80,089,243
Ensembl chr 6:80,035,122...80,089,233
JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO DNA:missense mutations:cds:p.D106A, p.F285L (human) RGD PMID:15996221 RGD:11064737 NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,057...121,444,136
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SHOC2 SHOC2 leucine rich repeat scaffold protein ISO OMIM NCBI chr14:121,347,938...121,444,144
Ensembl chr14:121,349,057...121,444,136
JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PPP1CB protein phosphatase 1 catalytic subunit beta ISO OMIM NCBI chr 3:110,437,681...110,474,896
Ensembl chr 3:110,437,687...110,474,891
JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CBL Cbl proto-oncogene ISO OMIM NCBI chr 9:46,416,937...46,512,855
Ensembl chr 9:46,404,999...46,512,834
JBrowse link
G MCAM melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar NCBI chr 9:46,506,375...46,522,091
Ensembl chr 9:46,512,784...46,522,083
JBrowse link
G PTPN11 protein tyrosine phosphatase non-receptor type 11 ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia ClinVar PMID:11992261 PMID:12058348 PMID:12161596 PMID:14634749 PMID:15121796 More... NCBI chr14:39,202,165...39,292,041
Ensembl chr14:39,202,168...39,292,018
JBrowse link
oblique facial clefting 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G SPECC1L sperm antigen with calponin homology and coiled-coil domains 1 like ISO OMIM NCBI chr14:49,332,937...49,463,965 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 chr 1:100,521,843...100,633,501
Ensembl chr 1:100,514,791...100,628,029
JBrowse link
Opitz GBBB syndrome type I term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MID1 midline 1 ISO OMIM NCBI chr  X:7,235,386...7,906,049
Ensembl chr  X:7,237,942...7,620,011
JBrowse link
orofacial cleft term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSS2 acyl-CoA synthetase short chain family member 2 ISO DNA:missense mutation: :p.V496A (rs59088485) (human) RGD PMID:27229527 PMID:28543373 RGD:13831307 RGD:13831309 NCBI chr17:38,260,152...38,315,764
Ensembl chr17:38,260,147...38,315,758
JBrowse link
G BMP4 bone morphogenetic protein 4 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
G CDH1 cadherin 1 ISO 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 chr 6:18,075,487...18,155,986
Ensembl chr 6:18,075,480...18,155,986
JBrowse link
G CEP70 centrosomal protein 70 ISO ClinVar Annotator: match by term: Median cleft lip and palate ClinVar PMID:19254375 PMID:25741868 PMID:31680349 NCBI chr13:79,305,678...79,386,946
Ensembl chr13:79,304,687...79,386,952
JBrowse link
G FST follistatin ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr16:32,806,341...32,811,382
Ensembl chr16:32,805,874...32,811,421
JBrowse link
G GDF11 growth differentiation factor 11 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:31215115 NCBI chr 5:21,191,322...21,199,024
Ensembl chr 5:21,191,142...21,201,818
JBrowse link
G LOXHD1 lipoxygenase homology PLAT domains 1 susceptibility ISO DNA:SNP:exon:rs1450425 (human) RGD PMID:27242896 RGD:13204730 NCBI chr 1:96,080,751...96,287,034
Ensembl chr 1:96,079,709...96,276,992
JBrowse link
G LRP6 LDL receptor related protein 6 ISO ClinVar Annotator: match by term: Orofacial cleft ClinVar PMID:22813217 PMID:23806086 PMID:26833330 PMID:26963285 NCBI chr 5:60,149,041...60,318,719
Ensembl chr 5:60,149,028...60,314,689
JBrowse link
G MYH9 myosin heavy chain 9 ISO DNA:SNP, haplotype: :rs7078 (human)
DNA:SNPs: :rs2269529, rs3752462, rs16996652 (human)
DNA:SNPs: :rs3752462, rs2009930 (human)
RGD PMID:17337617 PMID:18716610 PMID:19320731 PMID:19891592 RGD:12798509 RGD:12798511 RGD:12798512 RGD:12798514 NCBI chr 5:11,365,603...11,456,475 JBrowse link
G PHYH phytanoyl-CoA 2-hydroxylase ISO DNA:insertion, missense mutations: :p.Asn337_Leu338insHis (rs566116760), p.Arg245Gln (rs62619919), p.Arg82Gly (rs145404396) (human)
ClinVar Annotator: match by term: Nonsyndromic cleft lip palate
RGD
ClinVar
PMID:10767344 PMID:14974078 PMID:16186124 PMID:25741868 PMID:27229527 More... RGD:13831309 NCBI chr10:48,404,298...48,423,978
Ensembl chr10:48,404,293...48,423,978
JBrowse link
G SMARCE1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1 ISO ClinVar Annotator: match by term: Facial cleft ClinVar PMID:25741868 NCBI chr12:21,784,410...21,807,170
Ensembl chr12:21,784,426...21,807,170
JBrowse link
orofacial cleft 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN2 nectin cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 6:51,317,386...51,358,665 JBrowse link
G PVR PVR cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:21637507 NCBI chr 6:51,161,320...51,178,464 JBrowse link
orofacial cleft 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO ClinVar Annotator: match by term: Orofacial cleft 10 ClinVar PMID:26346622 PMID:27834299 PMID:28762674 PMID:28762675 PMID:28762676 NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G SUMO1 small ubiquitin like modifier 1 ISO OMIM NCBI chr15:105,820,237...105,850,099
Ensembl chr15:105,815,281...105,850,943
JBrowse link
orofacial cleft 11 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BMP4 bone morphogenetic protein 4 ISO OMIM NCBI chr 1:183,415,989...183,422,888
Ensembl chr 1:183,416,134...183,792,417
JBrowse link
orofacial cleft 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DLX4 distal-less homeobox 4 ISO OMIM NCBI chr12:26,155,520...26,161,310
Ensembl chr12:26,155,512...26,161,298
JBrowse link
orofacial cleft 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MSX1 msh homeobox 1 ISO OMIM NCBI chr 8:5,628,381...5,632,375
Ensembl chr 8:5,628,377...5,632,608
JBrowse link
orofacial cleft 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
orofacial cleft 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,233
JBrowse link
orofacial cleft 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
otospondylomegaepiphyseal dysplasia, autosomal dominant term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL11A2 collagen type XI alpha 2 chain ISO OMIM NCBI chr 7:25,204,496...25,234,880
Ensembl chr 7:25,204,496...25,234,888
JBrowse link
G COL2A1 collagen type II alpha 1 chain ISO ClinVar Annotator: match by term: Stickler syndrome, type 3 ClinVar PMID:25741868 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
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 chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CX3CL1 C-X3-C motif chemokine ligand 1 ISO RGD PMID:23829599 RGD:9491793 NCBI chr 6:19,312,351...19,324,439 JBrowse link
G PDGFB platelet derived growth factor subunit B ISO RGD PMID:17509411 RGD:10449488 Ensembl chr 5:8,986,461...9,007,446 JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b ISO RGD PMID:21793936 RGD:7205516 NCBI chr 4:19,850,212...19,879,132 JBrowse link
periapical granuloma 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 mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:11683586 RGD:6893426 NCBI chr13:29,251,950...29,286,470
Ensembl chr13:29,251,959...29,376,346
JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO RGD PMID:24631631 RGD:8661717 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
G CIITA class II major histocompatibility complex transactivator ISO RGD PMID:20478458 RGD:7242892 NCBI chr 3:32,171,706...32,230,775
Ensembl chr 3:32,172,214...32,230,780
JBrowse link
G CXCR2 C-X-C motif chemokine receptor 2 ISO RGD PMID:22341067 RGD:7257692 NCBI chr15:120,219,657...120,230,203 JBrowse link
G FGF2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 8:101,278,877...101,344,084
Ensembl chr 8:101,278,878...101,343,916
JBrowse link
G IL17A interleukin 17A ISO protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 7:46,013,584...46,017,161
Ensembl chr 7:46,013,584...46,017,153
JBrowse link
G TNFRSF11B TNF receptor superfamily member 11b treatment ISO Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chr 4:19,850,212...19,879,132 JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CCL2 chemokine (C-C motif) ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr12:40,798,109...40,800,013
Ensembl chr12:40,798,109...40,800,028
JBrowse link
G CCR2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr13:29,368,735...29,374,564
Ensembl chr13:29,251,959...29,376,346
JBrowse link
Periventricular Nodular Heterotopia 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NEDD4L NEDD4 like E3 ubiquitin protein ligase ISO OMIM NCBI chr 1:162,364,053...162,736,515
Ensembl chr 1:162,364,055...162,737,492
JBrowse link
Peters plus syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G B3GLCT beta 3-glucosyltransferase ISO OMIM NCBI chr11:7,792,160...7,907,052
Ensembl chr11:7,792,367...7,907,052
JBrowse link
G FGF8 fibroblast growth factor 8 ISO ClinVar Annotator: match by term: Peters plus syndrome ClinVar PMID:25741868 PMID:29584859 NCBI chr14:112,808,215...112,814,225
Ensembl chr14:112,808,210...112,814,134
JBrowse link
popliteal pterygium syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 ISO ClinVar Annotator: match by term: Popliteal pterygium syndrome ClinVar NCBI chr13:205,127,239...205,153,000
Ensembl chr13:205,127,239...205,153,007
JBrowse link
postaxial acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DHODH dihydroorotate dehydrogenase (quinone) ISO OMIM NCBI chr 6:14,942,898...14,956,000
Ensembl chr 6:14,942,933...14,956,000
JBrowse link
Prognathism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G COL2A1 collagen type II alpha 1 chain susceptibility ISO DNA:SNP: : rs1793953(human) RGD PMID:24386886 RGD:11667107 NCBI chr 5:78,350,131...78,380,893
Ensembl chr 5:78,350,220...78,380,924
JBrowse link
Raine Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FAM20C FAM20C golgi associated secretory pathway kinase ISO OMIM NCBI chr 3:159,107...200,462
Ensembl chr 3:163,419...200,460
JBrowse link
Rapp-Hodgkin syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 ISO OMIM NCBI chr13:127,115,990...127,347,082
Ensembl chr13:127,116,104...127,347,075
JBrowse link
Retrognathia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ABCC8 ATP binding cassette subfamily C member 8 ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 NCBI chr 2:41,666,974...41,754,624
Ensembl chr 2:41,666,909...41,754,620
JBrowse link
G LBR lamin B receptor ISO ClinVar Annotator: match by term: Retrognathia ClinVar PMID:25741868 PMID:26938784 NCBI chr10:13,389,896...13,416,831
Ensembl chr10:13,386,946...13,416,759
JBrowse link
G PRRX1 paired related homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:23444262 NCBI chr 4:80,427,682...80,502,689
Ensembl chr 4:80,427,685...80,501,646
JBrowse link
Richieri Costa Pereira Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 ISO OMIM NCBI chr12:2,285,679...2,311,750
Ensembl chr12:2,285,225...2,311,750
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 ISO OMIM NCBI chr14:131,183,095...131,285,001
Ensembl chr14:131,181,710...131,579,703
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 ISO DNA:missense mutation: :c.716G>A (p.R239Q) (human) RGD PMID:23951358 RGD:8662399 NCBI chr 1:40,988,818...41,002,129
Ensembl chr 1:40,988,515...41,002,137
JBrowse link
split hand-foot malformation 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FBXW4 F-box and WD repeat domain containing 4 ISO ClinVar Annotator: match by term: Split hand-foot malformation 3 ClinVar PMID:28492532 NCBI chr14:112,628,988...112,736,631
Ensembl chr14:112,638,204...112,735,857
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 chr 2:77,513,769...77,516,118
Ensembl chr 2:77,509,344...77,516,027
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 ISO OMIM NCBI chr 1:74,306,450...74,349,735
Ensembl chr 1:74,306,453...74,349,335
JBrowse link
TARP syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G RBM10 RNA binding motif protein 10 ISO OMIM NCBI chr  X:41,773,232...41,803,656
Ensembl chr  X:41,773,232...41,803,662
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 mRNA:increased expression:temporomandibular joint RGD PMID:18830934 PMID:24316289 RGD:10043104 RGD:10043108 NCBI chr13:190,353,019...190,413,110
Ensembl chr13:190,361,449...190,412,949
JBrowse link
G BECN1 beclin 1 ISO mRNA, protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G COMT catechol-O-methyltransferase ISO CTD Direct Evidence: marker/mechanism CTD PMID:25218601 NCBI chr14:51,384,729...51,403,997
Ensembl chr14:51,385,133...51,403,998
JBrowse link
G GRK5 G protein-coupled receptor kinase 5 ISO DNA: SNP: rs12415832 RGD PMID:22074755 RGD:5688353 NCBI chr14:129,113,933...129,351,135
Ensembl chr14:129,113,602...129,347,153
JBrowse link
G HIF1A hypoxia inducible factor 1 subunit alpha ISO protein:increased expression:temporomandibular joint, cartilage RGD PMID:20171183 RGD:10402539 NCBI chr 1:190,625,436...190,673,926
Ensembl chr 1:190,625,181...190,674,850
JBrowse link
G MAP1LC3A microtubule associated protein 1 light chain 3 alpha ISO protein:increased expression:cartilage tissue RGD PMID:23386193 RGD:10041017 NCBI chr17:37,957,830...37,959,505
Ensembl chr17:37,957,507...37,959,505
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 3:100,887,148...101,084,667
Ensembl chr 3:100,886,834...101,084,678
JBrowse link
G MTOR mechanistic target of rapamycin kinase ISO RGD PMID:23386193 RGD:10041017 NCBI chr 6:71,286,989...71,412,913
Ensembl chr 6:71,286,989...71,412,888
JBrowse link
G MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase susceptibility ISO DNA:polymorphism:cds:p.I22M (rs1801394)(human) RGD PMID:21615938 RGD:5490535 NCBI chr16:74,245,214...74,270,828
Ensembl chr16:74,245,224...74,270,802
JBrowse link
G TNF tumor necrosis factor severity ISO associated with connective tissue diseases; RGD PMID:10800908 RGD:7401181 NCBI chr 7:23,699,635...23,702,393
Ensembl chr 7:23,699,636...23,703,655
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 fragment of IgG receptor IIIa ISO RGD PMID:20589683 RGD:5508377 NCBI chr 4:88,948,357...88,956,513 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 4:88,591,279...88,806,156
Ensembl chr 4:88,591,280...88,818,372
JBrowse link
G BECN1 beclin 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr12:20,041,914...20,054,249
Ensembl chr12:20,041,956...20,054,373
JBrowse link
G DDIT3 DNA damage inducible transcript 3 ISO mRNA,protein:increased expression:chondrocyte RGD PMID:31007149 RGD:34888237 NCBI chr 5:22,785,441...22,789,867
Ensembl chr 5:22,785,441...22,791,134
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 3:57,423,894...57,506,247
Ensembl chr 3:57,423,875...57,506,247
JBrowse link
G ERN1 endoplasmic reticulum to nucleus signaling 1 ISO RGD PMID:31007149 RGD:34888237 NCBI chr12:14,881,913...14,963,290
Ensembl chr12:14,881,923...14,997,426
JBrowse link
G FAS Fas cell surface death receptor ISO mRNA:increased expression:mandibular condyle, cartilage (rat) RGD PMID:23934157 RGD:8663479 NCBI chr14:100,927,305...100,954,781 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 1:265,930,044...265,934,959
Ensembl chr 1:265,930,045...265,934,904
JBrowse link
G MAP1LC3B microtubule associated protein 1 light chain 3 beta ISO RGD PMID:31007149 RGD:34888237 NCBI chr 6:1,919,879...1,941,069
Ensembl chr 6:1,915,387...1,941,077
JBrowse link
G RPS6 ribosomal protein S6 ISO RGD PMID:31007149 RGD:34888237 NCBI chr 1:203,444,360...203,447,643
Ensembl chr 1:203,444,450...203,451,468
JBrowse link
uveal coloboma-cleft lip and palate-intellectual disability term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G YAP1 Yes1 associated transcriptional regulator ISO OMIM NCBI chr 9:32,811,629...32,924,926
Ensembl chr 9:32,811,416...32,925,603
JBrowse link
Van der Woude syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C9H1orf74 chromosome 9 C1orf74 homolog ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:14618417 NCBI chr 9:133,187,701...133,251,760
Ensembl chr 9:133,187,740...133,253,072
JBrowse link
G CACNA1E calcium voltage-gated channel subunit alpha1 E ISO ClinVar Annotator: match by term: van der Woude syndrome 1 ClinVar PMID:17660294 PMID:23934111 PMID:25741868 PMID:28492532 PMID:30343943 NCBI chr 9:122,827,386...123,318,372
Ensembl chr 9:122,931,808...123,317,141
JBrowse link
G GRHL3 grainyhead like transcription factor 3 ISO ClinVar Annotator: match by term: Van der Woude syndrome ClinVar PMID:25741868 NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G IRF6 interferon regulatory factor 6 ISO OMIM NCBI chr 9:133,164,360...133,184,045
Ensembl chr 9:133,164,440...133,185,628
JBrowse link
Van der Woude Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRHL3 grainyhead like transcription factor 3 ISO OMIM NCBI chr 6:82,014,022...82,050,240
Ensembl chr 6:82,014,046...82,050,236
JBrowse link
G STPG1 sperm tail PG-rich repeat containing 1 ISO ClinVar Annotator: match by term: Van der Woude syndrome 2 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:82,052,682...82,111,468
Ensembl chr 6:82,052,684...82,109,731
JBrowse link
Weissenbacher-Zweymuller syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACADVL acyl-CoA dehydrogenase very long chain ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,573,521...52,581,755
Ensembl chr12:52,576,401...52,581,755
JBrowse link
G ACAP1 ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,683,230...52,698,746
Ensembl chr12:52,681,624...52,697,459
JBrowse link
G AUTS2 activator of transcription and developmental regulator AUTS2 ISO ClinVar Annotator: match by term: Pierre Robin-like syndrome ClinVar NCBI chr 3:13,565,439...14,794,365
Ensembl chr 3:13,565,480...14,794,365
JBrowse link
G CHRNB1 cholinergic receptor nicotinic beta 1 subunit ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,749,422...52,774,642
Ensembl chr12:52,742,098...52,759,676
JBrowse link
G CLDN7 claudin 7 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,612,517...52,628,376
Ensembl chr12:52,612,507...52,628,362
JBrowse link
G DLX6 distal-less homeobox 6 ISO Cleft palate 1 OMIA PMID:24699068 PMID:28738009 NCBI chr 9:76,623,489...76,630,296
Ensembl chr 9:76,623,661...76,631,339
JBrowse link
G DVL2 dishevelled segment polarity protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,581,687...52,590,266
Ensembl chr12:52,579,765...52,590,292
JBrowse link
G EBF3 EBF transcription factor 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 PMID:28017370 PMID:28017372 PMID:33956416 NCBI chr14:138,819,846...138,935,504
Ensembl chr14:138,819,847...139,004,257
JBrowse link
G EIF5A eukaryotic translation initiation factor 5A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,659,040...52,664,686 JBrowse link
G ELP5 elongator acetyltransferase complex subunit 5 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,606,140...52,612,275
Ensembl chr12:52,603,833...52,612,275
JBrowse link
G GABARAP GABA type A receptor-associated protein ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,596,130...52,598,166
Ensembl chr12:52,597,083...52,598,194
JBrowse link
G GPS2 G protein pathway suppressor 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,664,869...52,667,643
Ensembl chr12:52,664,873...52,667,610
JBrowse link
G KCTD11 potassium channel tetramerization domain containing 11 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,698,155...52,700,965
Ensembl chr12:52,698,834...52,699,649
JBrowse link
G LOC100521350 transmembrane protein 256-like ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr 1:73,130,766...73,131,276 JBrowse link
G NEURL4 neuralized E3 ubiquitin protein ligase 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,667,826...52,680,158
Ensembl chr12:52,667,831...52,680,189
JBrowse link
G PHF23 PHD finger protein 23 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,590,801...52,595,208
Ensembl chr12:52,590,801...52,598,175
JBrowse link
G PLSCR3 phospholipid scramblase 3 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,719,060...52,724,570
Ensembl chr12:52,719,060...52,724,982
JBrowse link
G POLR2A RNA polymerase II subunit A ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,779,833...52,806,210
Ensembl chr12:52,779,825...52,810,165
JBrowse link
G SLC2A4 solute carrier family 2 member 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,628,746...52,634,965
Ensembl chr12:52,628,450...52,634,967
JBrowse link
G SLC35G6 solute carrier family 35 member G6 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,774,664...52,779,575 JBrowse link
G SNRPB small nuclear ribonucleoprotein polypeptides B and B1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr17:33,072,104...33,094,847
Ensembl chr17:33,072,098...33,094,603
JBrowse link
G SOX9 SRY-box transcription factor 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19234473 NCBI chr12:8,642,154...8,647,315
Ensembl chr12:8,642,158...8,647,315
JBrowse link
G SPEM2 SPEM family member 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,729,001...52,731,131
Ensembl chr12:52,728,927...52,730,822
JBrowse link
G TMEM102 transmembrane protein 102 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,738,942...52,749,326
Ensembl chr12:52,739,238...52,741,322
JBrowse link
G TMEM95 transmembrane protein 95 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,701,119...52,704,121
Ensembl chr12:52,701,251...52,702,717
JBrowse link
G TNK1 tyrosine kinase non receptor 1 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,711,133...52,719,101
Ensembl chr12:52,711,921...52,722,017
JBrowse link
G TNNT3 troponin T3, fast skeletal type ISO ClinVar Annotator: match by term: Robin sequence ClinVar PMID:25741868 NCBI chr 2:1,297,826...1,316,865
Ensembl chr 2:989,931...1,317,600
JBrowse link
G YBX2 Y-box binding protein 2 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,635,383...52,642,443
Ensembl chr12:52,635,383...52,641,651
JBrowse link
G ZBTB4 zinc finger and BTB domain containing 4 ISO ClinVar Annotator: match by term: Robin sequence ClinVar NCBI chr12:52,759,912...52,775,725 JBrowse link
X-linked cleft palate with or without ankyloglossia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBX22 T-box transcription factor 22 ISO OMIM NCBI chr  X:63,837,576...63,845,704
Ensembl chr  X:63,837,576...63,847,436
JBrowse link
Yunis-Varon syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G FIG4 FIG4 phosphoinositide 5-phosphatase ISO OMIM NCBI chr 1:75,694,151...75,847,021
Ensembl chr 1:75,692,932...75,847,528
JBrowse link
G VAC14 VAC14 component of PIKFYVE complex ISO ClinVar Annotator: match by term: Yunis Varon syndrome ClinVar NCBI chr 6:13,683,800...13,791,246
Ensembl chr 6:13,683,799...13,791,241
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13699
    Stomatognathic Diseases 946
      Jaw Diseases 281
        Bisphosphonate-Associated Osteonecrosis of the Jaw 1
        Geniospasm 0
        Giant Cell Granuloma + 6
        Jaw Abnormalities + 213
        Jaw Cysts + 14
        Jaw Neoplasms + 8
        Jaw, Edentulous + 0
        Mandibular Diseases + 34
        Maxillary Diseases + 2
        NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
        Periapical Diseases + 11
        cherubism + 10
Path 2
Term Annotations click to browse term
  disease 13699
    disease of anatomical entity 13372
      musculoskeletal system disease 5834
        Jaw Diseases 281
          Bisphosphonate-Associated Osteonecrosis of the Jaw 1
          Geniospasm 0
          Giant Cell Granuloma + 6
          Jaw Abnormalities + 213
          Jaw Cysts + 14
          Jaw Neoplasms + 8
          Jaw, Edentulous + 0
          Mandibular Diseases + 34
          Maxillary Diseases + 2
          NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME 1
          Periapical Diseases + 11
          cherubism + 10
paths to the root