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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:periodontal disease
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Accession:DOID:3388 term browser browse the term
Definition:A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. (DO)
Synonyms:exact_synonym: disease of supporting structures of teeth;   parodontoses;   parodontosis;   periodontal diseases;   periodontium disorder;   pyorrhea alveolaris;   tooth-supporting structures disease
 xref: EFO:0010693;   ICD10CM:K05.6;   MESH:D010510;   MONDO:0002635;   NCI:C63743
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
periodontal disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:increased expressin:gingiva RGD PMID:25887438 RGD:14398485 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Cd1d1 CD1d1 molecule ameliorates ISO RGD PMID:23586756 RGD:127345118 NCBI chr 2:172,423,582...172,427,089
Ensembl chr 2:172,423,582...172,427,089 		JBrowse link
G Cd40lg CD40 ligand IEP mRNA:increased expression:lymph node, B cell, T cell RGD PMID:20618701 RGD:5024938 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10657664 RGD:6902937 NCBI chr11:62,254,543...62,293,414
Ensembl chr11:62,254,624...62,292,030 		JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10662807 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G Dspp dentin sialophosphoprotein ISS MouseDO NCBI chr14:5,565,562...5,571,669
Ensembl chr14:5,565,629...5,571,672 		JBrowse link
G Il15 interleukin 15 IEP mRNA:decreased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr19:25,640,025...25,706,818
Ensembl chr19:25,640,251...25,706,820 		JBrowse link
G Il16 interleukin 16 IEP mRNA:increased expression:T cell RGD PMID:20618701 RGD:5024938 NCBI chr 1:137,617,702...137,718,022
Ensembl chr 1:137,617,944...137,718,130 		JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:gingiva (rat) RGD PMID:21826658 RGD:9068940 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Il19 interleukin 19 IEP mRNA:increased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr13:42,397,715...42,411,637
Ensembl chr13:42,399,138...42,405,473 		JBrowse link
G Il21 interleukin 21 IEP mRNA:increased expression:lymph node, B cell RGD PMID:20618701 RGD:5024938 NCBI chr 2:120,117,105...120,127,012
Ensembl chr 2:120,119,444...120,126,996 		JBrowse link
G Il24 interleukin 24 IEP mRNA:increased expression:lymph node, T cell RGD PMID:20618701 RGD:5024938 NCBI chr13:42,353,089...42,358,487
Ensembl chr13:42,353,090...42,358,487 		JBrowse link
G Il6 interleukin 6 severity ISO associated with Diabetes Mellitus, Insulin-Dependent; DNA:polymorphism:promoter:-174G>C (human) RGD PMID:17286759 PMID:19017034 RGD:1601585, RGD:2307284 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Il7 interleukin 7 IEP RGD PMID:20618701 RGD:5024938 NCBI chr 2:94,235,219...94,280,075
Ensembl chr 2:94,234,766...94,280,075 		JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19003935 NCBI chr 4:33,294,737...33,325,759
Ensembl chr 4:33,294,722...33,321,360 		JBrowse link
G Ren renin treatment ISO Associated with Diabetes Mellitus, experimental RGD PMID:31333451 RGD:125097482 NCBI chr13:44,796,260...44,807,491
Ensembl chr13:44,796,091...44,807,489 		JBrowse link
aggressive periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 ISO mRNA:increased expression:saliva RGD PMID:20383335 RGD:14398489 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr10:79,883,622...79,900,625
Ensembl chr10:79,883,622...79,900,624 		JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Aggressive Periodontitis | ClinVar Annotator: match by term: Periodontitis, aggressive 1
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10581027 PMID:10662808 PMID:11180012 PMID:14974080 PMID:15585850 More... NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr20:12,856,613...12,873,586
Ensembl chr20:12,856,669...12,873,585 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNP:promoter:-592C>A (rs1800872) (human)
protien:decreased expression:plasma		 RGD PMID:28662328 PMID:28868949 RGD:14975139, RGD:14975264 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1r2 interleukin 1 receptor type 2 ISO associated with Periodontitis;
DNA:SNPs,haplotype: :rs3819370, rs3218974,rs3218977(human)		 RGD PMID:18315432 PMID:24818754 RGD:8662884, RGD:8662885 NCBI chr 9:42,384,280...42,424,726
Ensembl chr 9:42,384,433...42,424,725 		JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Postn periostin ISS OMIM:170650 | OMIM:608526 MouseDO NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Ppia peptidylprolyl isomerase A ISO protein:increased expression:gingiva (human) RGD PMID:27176139 RGD:150429628 NCBI chr14:81,279,292...81,282,960
Ensembl chr14:81,275,091...81,299,601 		JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ace2 angiotensin converting enzyme 2 treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr  X:30,293,597...30,340,961
Ensembl chr  X:30,293,589...30,340,977 		JBrowse link
G Acp5 acid phosphatase 5, tartrate resistant treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 8:20,663,984...20,670,604
Ensembl chr 8:20,663,985...20,667,929 		JBrowse link
G Agtr1a angiotensin II receptor, type 1a treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946 		JBrowse link
G Agtr2 angiotensin II receptor, type 2 treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr  X:112,119,876...112,124,060
Ensembl chr  X:112,120,228...112,124,057 		JBrowse link
G Alpl alkaline phosphatase, biomineralization associated treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
associated with hypertension, periodontal disease		 CTD
RGD		 PMID:20630305 PMID:33364953 RGD:329956421 NCBI chr 5:149,951,397...150,006,424
Ensembl chr 5:149,951,409...150,006,446 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ctsk cathepsin K treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 2:183,058,586...183,069,551
Ensembl chr 2:183,058,569...183,069,550 		JBrowse link
G Cxcl3 C-X-C motif chemokine ligand 3 treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr14:17,287,727...17,289,451
Ensembl chr14:17,270,146...17,289,511 		JBrowse link
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental
associated with periodontal disease		 RGD PMID:26270535 PMID:33364953 RGD:11049527, RGD:329956421 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1b interleukin 1 beta treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il6 interleukin 6 treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Itgav integrin subunit alpha V treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 3:68,838,514...68,926,653
Ensembl chr 3:68,838,189...68,926,639 		JBrowse link
G Mas1 MAS1 proto-oncogene, G protein-coupled receptor treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 1:47,879,956...47,911,500
Ensembl chr 1:47,880,309...47,911,709 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Oscar osteoclast associated Ig-like receptor treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 1:65,607,214...65,615,395
Ensembl chr 1:65,607,410...65,613,758 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pparg peroxisome proliferator-activated receptor gamma treatment IEP associated with hypertension, periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 4:148,423,102...148,548,471
Ensembl chr 4:148,423,194...148,548,468 		JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental
associated with periodontal disease		 RGD PMID:26270535 PMID:33364953 RGD:11049527, RGD:329956421 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Tnfrsf11a TNF receptor superfamily member 11A treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr13:21,928,370...21,986,719
Ensembl chr13:21,928,408...21,986,695 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
G Tnfsf11 TNF superfamily member 11 treatment ISO
IEP		 CTD Direct Evidence: marker/mechanism
associated with periodontal disease		 CTD
RGD		 PMID:19249596 PMID:33364953 RGD:329956421 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
G Vtn vitronectin treatment IEP associated with periodontal disease RGD PMID:33364953 RGD:329956421 NCBI chr10:63,394,732...63,397,812
Ensembl chr10:63,394,719...63,397,810 		JBrowse link
Chronic Periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:gingival crevicular fluid, gingvia RGD PMID:20151806 RGD:6483776 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism		 CTD
RGD		 PMID:20731768 PMID:21382035 RGD:6480655 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr13:40,077,976...40,081,883
Ensembl chr13:40,077,976...40,081,883 		JBrowse link
G Dab2ip DAB2 interacting protein ISO associated with Porphyromonas gingivalis infection;DNA:SNP:CDS:rs10760187 (human) RGD PMID:25056994 RGD:401938645 NCBI chr 3:18,915,290...19,086,282
Ensembl chr 3:18,915,290...19,086,280 		JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,499,936...11,556,801
Ensembl chr18:11,502,003...11,528,494 		JBrowse link
G Dsg1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,674,687...11,705,383
Ensembl chr18:11,674,402...11,703,443 		JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358 PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr 1:41,106,335...41,499,104
Ensembl chr 1:41,210,475...41,495,002 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Il10 interleukin 10 ISO DNA:SNPs, haplotype:promoter:-592C>A, -819 C>T, -1082G>A (human) RGD PMID:31055876 RGD:14975127 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1rl1 interleukin 1 receptor-like 1 ISO mRNA:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256 		JBrowse link
G Il33 interleukin 33 ISO mRNA,protein:increased expression:gingiva RGD PMID:25808546 RGD:39938855 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Itgb2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr20:11,061,394...11,097,656
Ensembl chr20:11,061,430...11,097,600 		JBrowse link
G Kcnk1 potassium two pore domain channel subfamily K member 1 ISO DNA:SNP:CDS:rs11800854 (human) RGD PMID:25056994 RGD:401938645 NCBI chr19:53,959,411...53,997,726
Ensembl chr19:53,959,657...53,997,724 		JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr11:23,774,654...23,774,718
Ensembl chr11:23,774,654...23,774,718 		JBrowse link
G Mmp1 matrix metallopeptidase 1 no_association
severity		 ISO mRNA:increased expression:gingiva (human)
DNA:insertion:promoter:g.-1607insG (human)		 RGD PMID:22401717 PMID:15312099 PMID:12622858 RGD:7206856, RGD:7207046, RGD:7207045 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp2 matrix metallopeptidase 2 treatment ISO
IDA		 mRNA:increased expression:gingival tissues (human)
associated with Atherosclerosis		 RGD PMID:21382035 PMID:24820783 RGD:6480655, RGD:13207324 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IDA associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 2:173,437,867...173,447,777
Ensembl chr 2:173,438,734...173,447,777 		JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 7:110,101,344...110,128,718
Ensembl chr 7:110,116,260...110,128,720 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 ISO protein:increased expression,'increased phosphorylation:gingiva (human) RGD PMID:30814594 RGD:127229937 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 2:169,200,620...169,206,819
Ensembl chr 2:169,197,419...169,206,630 		JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr16:46,821,980...46,837,900
Ensembl chr16:46,822,039...46,836,545 		JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:106,864,680...106,868,796
Ensembl chr 8:106,864,680...106,868,796 		JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr15:53,673,850...53,705,325
Ensembl chr15:53,673,877...53,705,445 		JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
Ehlers-Danlos syndrome periodontal type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1		 OMIM
CTD
ClinVar		 PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:25741868 PMID:27745832 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 1 ClinVar PMID:27745832 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
Ehlers-Danlos syndrome periodontal type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C1r complement C1r ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:890102 PMID:2260589 PMID:12776252 PMID:22739343 PMID:25741868 More... NCBI chr 4:157,412,718...157,423,483
Ensembl chr 4:157,412,692...157,423,484 		JBrowse link
G C1rl complement C1r subcomponent like ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 ClinVar PMID:25741868 PMID:27745832 NCBI chr 4:157,394,183...157,410,771
Ensembl chr 4:157,394,200...157,410,134 		JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type 2 OMIM
ClinVar		 PMID:25741868 PMID:27745832 PMID:28492532 NCBI chr 4:157,430,249...157,442,438
Ensembl chr 4:157,430,117...157,442,303 		JBrowse link
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnk4 potassium two pore domain channel subfamily K member 4 ISO ClinVar Annotator: match by term: Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome | ClinVar Annotator: match by term: KCNK4-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:30290154 NCBI chr 1:204,117,941...204,129,494
Ensembl chr 1:204,114,572...204,125,925 		JBrowse link
Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca5 ATP binding cassette subfamily A member 5 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis		 OMIM
CTD
ClinVar		 PMID:24831815 PMID:25741868 NCBI chr10:95,240,159...95,309,195
Ensembl chr10:95,240,154...95,308,976 		JBrowse link
gingival disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Gingival disorder ClinVar PMID:17927965 PMID:24033266 PMID:25741868 PMID:28492532 PMID:31534221 NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559 		JBrowse link
gingival fibromatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar
RGD		 PMID:25741868 PMID:28492532 PMID:11868160 RGD:1580011 NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 PMID:35142290 NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995 		JBrowse link
Gingival Fibromatosis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 ClinVar PMID:28492532 PMID:28686854 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 1 | ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1 OMIM
ClinVar		 PMID:9030684 PMID:9536098 PMID:10675333 PMID:11868160 PMID:14551916 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
gingival fibromatosis 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rest RE1-silencing transcription factor ISO ClinVar Annotator: match by term: Fibromatosis, gingival, 5 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:28686854 PMID:33719663 NCBI chr14:30,859,109...30,879,828
Ensembl chr14:30,862,553...30,894,354 		JBrowse link
Gingival Fibromatosis 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: FIBROMATOSIS, GINGIVAL, 6 OMIM
ClinVar		 PMID:25741868 PMID:35142290 NCBI chr 4:77,452,930...77,481,981
Ensembl chr 4:77,453,037...77,481,995 		JBrowse link
Gingival Hyperplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf7 fibroblast growth factor 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11023675 NCBI chr 3:113,280,448...113,333,279
Ensembl chr 3:113,281,283...113,332,929 		JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
gingival hypertrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr2 ANTXR cell adhesion molecule 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12973667 PMID:14508707 NCBI chr14:11,541,718...11,682,110
Ensembl chr14:11,541,772...11,682,094 		JBrowse link
gingival overgrowth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival enlargement ClinVar PMID:2660074 PMID:3078962 PMID:7536460 PMID:7824936 PMID:7845675 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
gingivitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmod fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133 		JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:157,123,183...157,168,421
Ensembl chr 5:157,123,185...157,168,421 		JBrowse link
G Vegfa vascular endothelial growth factor A ISO associated with Scleroderma, Systemic;protein:decreased expression:gingiva: RGD PMID:18206400 RGD:7421591 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Keratosis Palmoplantaris with Periodontopathia and Onychogryposis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Haim-Munk syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:1886537 PMID:9536098 PMID:10581027 PMID:10593994 PMID:10662807 More... NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
G Grm5 glutamate metabotropic receptor 5 ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274 		JBrowse link
G Tyr tyrosinase ISO ClinVar Annotator: match by term: Haim-Munk syndrome ClinVar PMID:28492532 NCBI chr 1:141,115,036...141,210,207
Ensembl chr 1:141,115,036...141,210,207 		JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 FERM domain containing kindlin 1 ISO
ISS		 ClinVar Annotator: match by term: FERMT1-related condition | ClinVar Annotator: match by term: Kindler syndrome
OMIM:173650
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
MouseDO
CTD		 PMID:12668616 PMID:12789646 PMID:14507403 PMID:14962093 PMID:15313809 More... NCBI chr 3:120,171,301...120,213,555
Ensembl chr 3:120,171,561...120,213,555 		JBrowse link
NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tbc1d2b TBC1 domain family, member 2B ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth OMIM
ClinVar		 PMID:25741868 PMID:32623794 PMID:38177409 NCBI chr 8:90,746,220...90,814,867
Ensembl chr 8:90,746,233...90,814,832 		JBrowse link
G Zfp57 zinc finger protein 57 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with seizures and gingival overgrowth ClinVar PMID:18622393 PMID:25741868 PMID:30315371 PMID:32623794 PMID:36029130 NCBI chr20:1,521,323...1,534,884
Ensembl chr20:1,521,323...1,529,846 		JBrowse link
Noonan Like Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:19620960 PMID:20951944 PMID:24033266 PMID:25741868 PMID:27069254 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		JBrowse link
G Cdc42 cell division cycle 42 ISO ClinVar Annotator: match by term: Noonan-like syndrome ClinVar PMID:25741868 PMID:29394990 NCBI chr 5:149,555,069...149,593,239
Ensembl chr 5:149,553,724...149,593,111 		JBrowse link
G Erf Ets2 repressor factor ISO ClinVar Annotator: match by term: Noonan Syndrome-like developmental disorder ClinVar PMID:23354439 PMID:25741868 PMID:27738187 PMID:28492532 PMID:29758562 More... NCBI chr 1:80,829,935...80,838,388
Ensembl chr 1:80,829,935...80,838,388 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: NOONAN SYNDROME WITH PIGMENTED VILLONODULAR SYNOVITIS ClinVar PMID:1758637 PMID:1995362 PMID:9030684 PMID:9536098 PMID:10675333 More... NCBI chr 6:14,533,870...14,613,348
Ensembl chr 6:14,533,360...14,611,107 		JBrowse link
G Ywhaz tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta ISO ClinVar Annotator: match by term: Noonan-like disorder ClinVar PMID:25741868 PMID:31024343 NCBI chr 7:67,941,353...67,963,651
Ensembl chr 7:67,940,017...67,963,668 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: Noonan-like syndrome with loose anagen hair ClinVar PMID:18414213 PMID:19684605 PMID:20882035 PMID:21396583 PMID:21548061 More... NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shoc2 SHOC2 leucine-rich repeat scaffold protein ISO ClinVar Annotator: match by term: MAZZANTI SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 1 | ClinVar Annotator: match by term: SHOC2-related condition | ClinVar Annotator: match by term: TOSTI SYNDROME
DNA:missense mutations:cds:multiple (human)
Noonan syndrome-like disorder with loose anagen hair 1;
DNA:mutation:cds:c.4A>G (p.S2G)(human)		 OMIM
ClinVar
RGD		 PMID:9536098 PMID:17576681 PMID:18414213 PMID:19684605 PMID:20882035 More... RGD:155804265, RGD:11071098, RGD:11071178 NCBI chr 1:252,958,939...253,048,820
Ensembl chr 1:252,959,723...253,047,337 		JBrowse link
Noonan syndrome-like disorder with loose anagen hair 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ppp1cb protein phosphatase 1 catalytic subunit beta ISO ClinVar Annotator: match by term: Noonan syndrome-like disorder with loose anagen hair 2 | ClinVar Annotator: match by term: PPP1CB-related condition OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:25741869 PMID:27264673 PMID:27681385 More... NCBI chr 6:23,958,813...23,992,841
Ensembl chr 6:23,960,998...23,992,824 		JBrowse link
Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cbl Cbl proto-oncogene ISO ClinVar Annotator: match by term: CBL SYNDROME | ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | ClinVar Annotator: match by term: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17446348 PMID:17576681 PMID:18698078 More... NCBI chr 8:44,487,824...44,571,620
Ensembl chr 8:44,489,410...44,571,176 		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 chr12:35,365,436...35,424,925
Ensembl chr12:35,383,144...35,424,925 		JBrowse link
Papillon-Lefevre disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctsc cathepsin C ISO DNA:nonsense mutation, deletion, substitution: ;856C>T,2692delA,2931G>A
ClinVar Annotator: match by term: Keratosis palmoplantaris with periodontopathia | ClinVar Annotator: match by term: Papillon-Lefevre Disease | ClinVar Annotator: match by term: Papillon-Lefèvre syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM
RGD		 PMID:10581027 PMID:10593994 PMID:10662807 PMID:10662808 PMID:11106356 More... RGD:1599638 NCBI chr 1:142,028,386...142,059,841
Ensembl chr 1:142,028,392...142,060,387 		JBrowse link
Peri-Implantitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Brinp3 BMP/retinoic acid inducible neural specific 3 susceptibility ISO DNA:SNP: :rs1935881(human) RGD PMID:25887438 RGD:14398485 NCBI chr13:58,413,883...58,846,828
Ensembl chr13:58,413,883...58,846,770 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
Periapical Diseases term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20113782 RGD:8661683 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:23829599 RGD:9491793 NCBI chr19:10,227,337...10,237,826
Ensembl chr19:10,227,340...10,236,833 		JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP RGD PMID:17509411 RGD:10449488 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP RGD PMID:21793936 RGD:7205516 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
periapical granuloma term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:11683586 RGD:6893426 NCBI chr 8:123,586,100...123,634,178
Ensembl chr 8:123,616,236...123,634,990 		JBrowse link
periapical periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 IEP RGD PMID:24631631 RGD:8661717 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP RGD PMID:24631631 RGD:8661717 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
G Ciita class II, major histocompatibility complex, transactivator IDA RGD PMID:20478458 RGD:7242892 NCBI chr10:5,139,947...5,187,493
Ensembl chr10:5,140,178...5,187,440 		JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 IEP RGD PMID:22341067 RGD:7257692 NCBI chr 9:75,729,493...75,735,868
Ensembl chr 9:75,729,115...75,739,425 		JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 2:120,236,328...120,290,673
Ensembl chr 2:120,236,328...120,291,221 		JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 9:23,144,402...23,147,889
Ensembl chr 9:23,144,402...23,147,889 		JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B treatment IEP Lactobacillus acidophilus RGD PMID:32436602 RGD:42721981 NCBI chr 7:85,566,520...85,594,526
Ensembl chr 7:85,566,520...85,594,538 		JBrowse link
Periodontal Atrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vegfa vascular endothelial growth factor A IEP protein:decreased expression:maxilla: RGD PMID:22716278 RGD:7421608 NCBI chr 9:14,955,300...14,970,641
Ensembl chr 9:14,955,300...14,970,641 		JBrowse link
Periodontal Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl2 C-C motif chemokine ligand 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719 NCBI chr 8:123,734,465...123,742,483
Ensembl chr 8:123,734,430...123,742,100 		JBrowse link
periodontitis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adrb1 adrenoceptor beta 1 IMP
ISO		 RGD PMID:18275933 PMID:21958237 RGD:5129135, RGD:7241545 NCBI chr 1:255,771,962...255,774,973
Ensembl chr 1:255,771,597...255,807,259 		JBrowse link
G Ager advanced glycosylation end product-specific receptor ISO
IEP		 protein:increased expression:periodontium (rat) RGD PMID:22795565 PMID:22924807 RGD:6784499, RGD:7245487 NCBI chr20:4,148,150...4,151,361
Ensembl chr20:4,147,890...4,151,078 		JBrowse link
G App amyloid beta precursor protein ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:gingiva RGD PMID:17876613 RGD:2306992 NCBI chr10:67,005,424...67,007,222
Ensembl chr10:67,005,424...67,007,226 		JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:20053385 RGD:5688142 NCBI chr 8:123,556,286...123,561,841 JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:monocyte, neutrophil: RGD PMID:17565820 RGD:7191232 NCBI chr18:28,335,522...28,337,383
Ensembl chr18:28,335,340...28,337,261 		JBrowse link
G Cd274 CD274 molecule IEP protein:increased expression:periodontium RGD PMID:32346701 RGD:40886271 NCBI chr 1:227,116,674...227,137,379
Ensembl chr 1:227,116,649...227,134,450 		JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22523383 RGD:11352302 NCBI chr  X:135,127,052...135,138,768
Ensembl chr  X:135,126,969...135,138,306 		JBrowse link
G Cldn1 claudin 1 IEP mRNA,protein:decreased expression:epithelium: RGD PMID:22092031 RGD:11344891 NCBI chr11:74,421,569...74,436,728
Ensembl chr11:74,421,569...74,436,724 		JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20011938 NCBI chr13:85,135,384...85,175,178
Ensembl chr13:85,124,977...85,175,178 		JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO RGD PMID:18454663 RGD:2306575 NCBI chr 4:150,388,326...150,401,173
Ensembl chr 4:150,388,325...150,401,168 		JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP protein:increased expression:gingival epithelium RGD PMID:20096665 RGD:5135002 NCBI chr14:17,181,030...17,183,075
Ensembl chr14:17,181,062...17,183,075 		JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 8:58,096,021...58,102,130
Ensembl chr 8:58,096,077...58,102,125 		JBrowse link
G Elane elastase, neutrophil expressed susceptibility ISO associated with Severe Congenital Neutropenia;DNA:mutations: : RGD PMID:21796505 RGD:10450515 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
G Fmod fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr13:45,493,517...45,504,134
Ensembl chr13:45,493,517...45,504,133 		JBrowse link
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Periodontitis ClinVar PMID:28492532 NCBI chr 1:58,745,019...58,756,776
Ensembl chr 1:58,747,246...58,756,559 		JBrowse link
G Gc GC, vitamin D binding protein ISO ClinVar Annotator: match by term: Periodontitis ClinVar PMID:1352271 PMID:25741868 NCBI chr14:18,632,146...18,667,563
Ensembl chr14:18,632,135...18,667,567 		JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr20:13,074,695...13,104,095
Ensembl chr20:13,074,700...13,108,442 		JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO DNA:snp:exon:c.59C>G (human) RGD PMID:15490304 RGD:9685136 NCBI chr15:41,972,482...41,976,690
Ensembl chr15:41,972,905...41,973,581
Ensembl chr15:41,972,905...41,973,581 		JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 2:195,649,845...195,655,402
Ensembl chr 2:195,649,845...195,655,411 		JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:gingiva RGD PMID:24692854 RGD:10402172 NCBI chr12:5,972,950...5,979,658
Ensembl chr12:5,901,586...5,978,565
Ensembl chr16:5,901,586...5,978,565 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO RGD PMID:20655098 RGD:6480271 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Il10 interleukin 10 treatment IEP
ISO		 associated with type 2 diabetes mellitus RGD PMID:23843954 PMID:30405072 PMID:27795360 RGD:7364998, RGD:14975259, RGD:14975132 NCBI chr13:42,472,625...42,477,308
Ensembl chr13:42,472,839...42,477,313 		JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:gingiva RGD PMID:22795294 RGD:6906881 NCBI chr 3:116,526,601...116,537,055
Ensembl chr 3:116,526,604...116,536,822 		JBrowse link
G Il1b interleukin 1 beta treatment ISO
IEP		 mRNA:increased expression:gingiva
associated with Severe Congenital Neutropenia;protein:increased expression:gingival crevicular fluid
mRNA:increased expression:gingiva, stroma (rat)		 RGD PMID:22795294 PMID:21796505 PMID:27795360 PMID:24586097 PMID:23167849 RGD:6906881, RGD:10450515, RGD:14975132, RGD:10450598, RGD:7175547 NCBI chr 3:116,577,005...116,583,386
Ensembl chr 3:116,577,010...116,583,415 		JBrowse link
G Il1rn interleukin 1 receptor antagonist susceptibility ISO mRNA:increased expression:gingiva
associated with Kidney Failure, Chronic;DNA:repeats:intron:IVS2+914_1000dup IL1RN*2 (human)		 RGD PMID:22795294 PMID:22795294 RGD:6906881, RGD:6906881 NCBI chr 3:7,111,567...7,127,451
Ensembl chr 3:7,111,550...7,127,445 		JBrowse link
G Il33 interleukin 33 severity ISO associated with Gram-Negative Bacterial Infections;mRNA:increased expression:gingvia RGD PMID:25808546 PMID:25808546 RGD:39938855, RGD:39938855 NCBI chr 1:227,701,964...227,736,374
Ensembl chr 1:227,721,435...227,736,373 		JBrowse link
G Il6 interleukin 6 susceptibility
treatment		 ISO chronic periodontitis RGD PMID:17209781 PMID:27795360 RGD:1601588, RGD:14975132 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178 		JBrowse link
G Jak1 Janus kinase 1 treatment ISO associated with Diabetes Mellitus, Experimental RGD PMID:26825585 PMID:23333931 RGD:18936995, RGD:18936997 NCBI chr 5:115,780,248...115,888,841
Ensembl chr 5:115,780,248...115,888,926 		JBrowse link
G Lbp lipopolysaccharide binding protein IEP associated with Diabetes Mellitus, Type 2;mRNA:increased expression:gingiva RGD PMID:23730973 RGD:9685198 NCBI chr 3:146,953,889...146,981,032
Ensembl chr 3:146,954,015...146,981,586 		JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase IEP mRNA, protein:increased expression:gingival pocket (rat) RGD PMID:16827730 RGD:2317520 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876 		JBrowse link
G Mir143 microRNA 143 severity ISO RGD PMID:31021403 RGD:155883167 NCBI chr18:55,101,006...55,101,110
Ensembl chr18:55,101,006...55,101,110 		JBrowse link
G Mme membrane metallo-endopeptidase ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr 2:147,686,913...147,803,808
Ensembl chr 2:147,722,086...147,803,792 		JBrowse link
G Mmp1 matrix metallopeptidase 1 ISO protein:increased expression, increased activity:gingiva, gingival crevicular fluid (human) RGD PMID:11876270 RGD:7207044 NCBI chr 8:4,658,588...4,679,099
Ensembl chr 8:4,658,588...4,679,097 		JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP RGD PMID:19393988 RGD:10043174 NCBI chr 8:4,497,960...4,508,239
Ensembl chr 8:4,497,960...4,508,239 		JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:increased expression: periodontal ligament RGD PMID:16845949 RGD:2325939 NCBI chr19:14,154,657...14,182,870
Ensembl chr19:14,154,657...14,182,870 		JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:serum RGD PMID:19961752 RGD:2325862 NCBI chr 8:4,640,397...4,653,963
Ensembl chr 8:4,640,416...4,653,961 		JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808498 PMID:24640096 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120 		JBrowse link
G Nampt nicotinamide phosphoribosyltransferase IEP associated with type 2 diabetes mellitus;mRNA:increased expression:adipose tissue: RGD PMID:26456152 RGD:13781894 NCBI chr 6:49,425,316...49,462,109
Ensembl chr 6:49,424,332...49,462,100 		JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression:neuron RGD PMID:20200421 RGD:5684768 NCBI chr 2:173,236,961...173,253,806
Ensembl chr 2:173,236,963...173,253,770 		JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404 		JBrowse link
G Pdcd1 programmed cell death 1 IEP protein:increased expression:periodontium RGD PMID:32346701 RGD:40886271 NCBI chr 9:94,418,786...94,431,945
Ensembl chr 9:94,418,791...94,431,937 		JBrowse link
G Pecam1 platelet and endothelial cell adhesion molecule 1 ISO protein:increased expression:gingiva, blood vessels (mouse) RGD PMID:21979132 RGD:6771178 NCBI chr10:91,590,521...91,652,279
Ensembl chr10:91,590,521...91,652,116 		JBrowse link
G Postn periostin IEP protein:decreased expression:mandible: RGD PMID:24212842 RGD:10041024 NCBI chr 2:138,527,714...138,559,098
Ensembl chr 2:138,527,696...138,559,099 		JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IDA possible therapeutic target RGD PMID:21253492 RGD:5509938 NCBI chr 7:116,832,405...116,900,878
Ensembl chr 7:116,832,756...116,895,346 		JBrowse link
G Ripk3 receptor-interacting serine-threonine kinase 3 treatment ISO associated with Gram-Negative Bacterial Infections RGD PMID:31758083 RGD:127229920 NCBI chr15:29,283,153...29,292,107
Ensembl chr15:29,283,145...29,292,121 		JBrowse link
G Stat1 signal transducer and activator of transcription 1 treatment ISO RGD PMID:26825585 RGD:18936995 NCBI chr 9:49,419,561...49,459,969
Ensembl chr 9:49,419,340...49,588,540 		JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:26825585 RGD:18936995 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057 		JBrowse link
G Tlr4 toll-like receptor 4 ISO ClinVar Annotator: match by term: Pericementitis ClinVar PMID:10835634 PMID:12124407 PMID:15547160 PMID:15829498 PMID:16879199 More... NCBI chr 5:80,145,867...80,159,501
Ensembl chr 5:80,145,826...80,159,628 		JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:24586097 RGD:10450598 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629 		JBrowse link
G Trem1 triggering receptor expressed on myeloid cells 1 IEP mRNA,protein:increased expression:periodontium RGD PMID:29972971 RGD:127284858 NCBI chr 9:12,763,819...12,779,285
Ensembl chr 9:12,763,819...12,779,203 		JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP associated with obesity;protein:increased expression:aorta: RGD PMID:20065945 RGD:7240508 NCBI chr 2:204,038,120...204,057,852
Ensembl chr 2:204,038,114...204,057,958 		JBrowse link
G Vdr vitamin D receptor ISO ClinVar Annotator: match by term: Periodontitis ClinVar PMID:24033266 PMID:25741868 PMID:28492532 PMID:35738466 PMID:15118671 RGD:1331525 NCBI chr 7:128,987,981...129,037,677
Ensembl chr 7:128,987,981...129,037,677 		JBrowse link
G Vip vasoactive intestinal peptide IDA RGD PMID:19792856 RGD:5685624 NCBI chr 1:42,064,878...42,073,219
Ensembl chr 1:42,065,120...42,073,216 		JBrowse link
Radicular Cyst term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccl7 C-C motif chemokine ligand 7 ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:67,016,446...67,018,296
Ensembl chr10:67,016,446...67,018,303 		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 IEP protein:increased expression:neutrophil: RGD PMID:19913217 RGD:10450566 NCBI chr 7:9,817,251...9,819,174
Ensembl chr 7:9,817,252...9,819,100 		JBrowse link
Zimmerman Laband Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25915598 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Laband syndrome		 CTD
ClinVar		 PMID:23020937 PMID:25741868 PMID:25915598 PMID:26264464 PMID:26818738 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740 		JBrowse link
Zimmermann-Laband Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 ClinVar PMID:18541964 PMID:23994350 PMID:25915598 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: KCNH1-related condition | ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar		 PMID:18541964 PMID:20683999 PMID:23020937 PMID:23994350 PMID:24357613 More... NCBI chr13:103,722,140...104,024,762
Ensembl chr13:103,722,245...104,024,740 		JBrowse link
Zimmermann-Laband Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase H+ transporting V1 subunit B2 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 2 OMIM
ClinVar		 PMID:18541964 PMID:23994350 PMID:25741868 PMID:25915598 PMID:31655144 NCBI chr16:20,617,515...20,641,651
Ensembl chr16:20,617,518...20,641,745 		JBrowse link
Zimmermann-Laband Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kcnn3 potassium calcium-activated channel subfamily N member 3 ISO ClinVar Annotator: match by term: Zimmermann-laband syndrome 3 OMIM
ClinVar		 PMID:24033266 PMID:25741868 PMID:31155282 NCBI chr 2:174,929,846...175,088,910
Ensembl chr 2:174,936,629...175,081,145 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Stomatognathic Diseases 1368
      tooth disease 465
        periodontal disease 138
          Furcation Defects 0
          Kindler syndrome 1
          Papillon-Lefevre disease + 3
          Peri-Implantitis 3
          Periapical Diseases + 12
          Periodontal Atrophy + 24
          Periodontal Cyst + 3
          Tooth Loss 0
          Tooth Migration + 0
          Tooth Mobility 0
          gingival disease + 26
          periodontitis + 87
          periodontosis 0
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        Neurologic Manifestations 10420
          sensory system disease 7331
            mouth disease 1039
              tooth disease 465
                periodontal disease 138
                  Furcation Defects 0
                  Kindler syndrome 1
                  Papillon-Lefevre disease + 3
                  Peri-Implantitis 3
                  Periapical Diseases + 12
                  Periodontal Atrophy + 24
                  Periodontal Cyst + 3
                  Tooth Loss 0
                  Tooth Migration + 0
                  Tooth Mobility 0
                  gingival disease + 26
                  periodontitis + 87
                  periodontosis 0
paths to the root