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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:Pathological processes involving the PERIODONTIUM including the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, and the PERIODONTAL LIGAMENT.
Synonyms:exact_synonym: Parodontoses;   Parodontosis;   Pyorrhea Alveolaris;   disease of supporting structures of teeth;   periodontal diseases;   periodontium disorder
 primary_id: MESH:D010510
 alt_id: RDO:0001858
 xref: ICD10CM:K05.6;   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 chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Cd40lg CD40 ligand IEP mRNA:increased expression:lymph node, B cell, T cell RGD PMID:20618701 RGD:5024938 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cd80 Cd80 molecule IMP RGD PMID:10657664 RGD:6902937 NCBI chr11:64,815,201...64,855,293
Ensembl chr11:64,827,635...64,855,353
JBrowse link
G Ctsc cathepsin C ISO CTD Direct Evidence: marker/mechanism CTD PMID:10662807 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Dspp dentin sialophosphoprotein ISS MouseDO NCBI chr14:6,926,972...6,933,079
Ensembl chr14:6,926,976...6,933,070
JBrowse link
G Il15 interleukin 15 IEP mRNA:decreased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr19:23,542,606...23,624,366
Ensembl chr19:23,542,889...23,554,594
JBrowse link
G Il16 interleukin 16 IEP mRNA:increased expression:T cell RGD PMID:20618701 RGD:5024938 NCBI chr 1:145,781,923...145,881,538
Ensembl chr 1:145,781,928...145,870,912
JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:gingiva (rat) RGD PMID:21826658 RGD:9068940 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
JBrowse link
G Il19 interleukin 19 IEP mRNA:increased expression:B cell RGD PMID:20618701 RGD:5024938 NCBI chr13:47,663,592...47,677,869
Ensembl chr13:47,664,080...47,670,407
JBrowse link
G Il21 interleukin 21 IEP mRNA:increased expression:lymph node, B cell RGD PMID:20618701 RGD:5024938 NCBI chr 2:123,965,021...123,972,356
Ensembl chr 2:123,965,021...123,972,356
JBrowse link
G Il24 interleukin 24 IEP mRNA:increased expression:lymph node, T cell RGD PMID:20618701 RGD:5024938 NCBI chr13:47,618,451...47,623,849
Ensembl chr13:47,618,452...47,623,849
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 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Il7 interleukin 7 IEP RGD PMID:20618701 RGD:5024938 NCBI chr 2:96,427,884...96,474,979
Ensembl chr 2:96,439,286...96,474,977
JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19003935 NCBI chr 4:30,249,749...30,276,297
Ensembl chr 4:30,249,742...30,276,372
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 chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 susceptibility ISO DNA:polymorphism,haplotype::2518A>G(human) RGD PMID:21264360 RGD:8661707 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 susceptibility ISO DNA:polymorphism,haplotype:cds:p.V64I(human) RGD PMID:21264360 RGD:8661707
G Col1a1 collagen type I alpha 1 chain ISO DNA:SNP RGD PMID:15081423 RGD:5688299 NCBI chr10:82,745,801...82,762,790
Ensembl chr10:82,745,801...82,762,789
JBrowse link
G Crp C-reactive protein ISO protein:increased expression:serum: RGD PMID:16013223 RGD:9491835 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Ctsc cathepsin C ISO ClinVar Annotator: match by term: Periodontitis, aggressive, 1
ClinVar Annotator: match by OMIM:170650
OMIM
ClinVar
PMID:10581027, PMID:10662808, PMID:14974080, PMID:24033266, PMID:24936511, PMID:25741868 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Gstt1 glutathione S-transferase theta 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr20:13,799,102...13,816,527
Ensembl chr20:13,799,102...13,816,526
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
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 9:46,840,646...46,881,241
Ensembl chr 9:46,840,992...46,881,264
JBrowse link
G Il2 interleukin 2 ISO RGD PMID:21730256 RGD:5147873 NCBI chr 2:123,847,150...123,851,854
Ensembl chr 2:123,847,150...123,851,854
JBrowse link
G Il6 interleukin 6 ISO DNA:SNP:promoter:-174G>C (human) RGD PMID:28662328 RGD:14975139 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Postn periostin ISS OMIM:170650 | OMIM:608526 MouseDO NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
Alveolar Bone Loss term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alpl alkaline phosphatase, biomineralization associated ISO CTD Direct Evidence: marker/mechanism CTD PMID:20630305 NCBI chr 5:156,086,496...156,141,513
Ensembl chr 5:156,086,497...156,141,537
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO associated with Periodontitis; RGD PMID:21241302 RGD:8661687
G Il10 interleukin 10 treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
JBrowse link
G Tnf tumor necrosis factor treatment IEP associated with Diabetes Mellitus, Experimental RGD PMID:26270535 RGD:11049527 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19249596 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
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 chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
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 chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721
G Cxcl12 C-X-C motif chemokine ligand 12 ISO mRNA:increased expression:gingival tissues (human)
CTD Direct Evidence: marker/mechanism
CTD PMID:20731768, PMID:21382035 RGD:6480655 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcr4 C-X-C motif chemokine receptor 4 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr13:45,314,952...45,318,856
Ensembl chr13:45,314,933...45,318,878
JBrowse link
G Dsc1 desmocollin 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:11,877,918...11,906,828
Ensembl chr18:11,877,561...11,906,827
JBrowse link
G Dsg1 desmoglein 1 ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr18:12,008,301...12,040,337
Ensembl chr18:12,008,759...12,038,053
JBrowse link
G Esr1 estrogen receptor 1 no_association ISO DNA:polymorphism RGD PMID:15324358, PMID:15324358 RGD:10045837, RGD:10045837 NCBI chr 1:41,192,029...41,594,799
Ensembl chr 1:41,192,824...41,594,796
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:17524385 RGD:14700939 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Itgb2 integrin subunit beta 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr20:11,777,773...11,815,647
Ensembl chr20:11,777,783...11,815,647
JBrowse link
G Mir155 microRNA 155 treatment ISO RGD PMID:29517812 RGD:21403685 NCBI chr11:24,176,603...24,176,667
Ensembl chr11:24,176,603...24,176,667
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
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 chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp9 matrix metallopeptidase 9 treatment IDA associated with Atherosclerosis RGD PMID:24820783 RGD:13207324 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
JBrowse link
G Nes nestin ISO mRNA:decreased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 2:187,343,109...187,352,972
Ensembl chr 2:187,344,056...187,352,969
JBrowse link
G Rac2 Rac family small GTPase 2 ISO mRNA:increased expression:gingival tissues (human) RGD PMID:21382035 RGD:6480655 NCBI chr 7:119,769,708...119,797,111
Ensembl chr 7:119,783,849...119,797,098
JBrowse link
G Tlr2 toll-like receptor 2 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 2:182,840,171...182,846,061
Ensembl chr 2:182,840,727...182,846,061
JBrowse link
G Tlr3 toll-like receptor 3 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr16:50,016,466...50,031,011
Ensembl chr16:50,016,857...50,031,214
JBrowse link
G Tlr4 toll-like receptor 4 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 5:82,587,424...82,601,056
Ensembl chr 5:82,587,420...82,601,052
JBrowse link
G Tlr9 toll-like receptor 9 severity ISO protein:increased expression:gingiva: RGD PMID:21848608 RGD:7794852 NCBI chr 8:114,916,122...114,920,171
Ensembl chr 8:114,916,122...114,920,171
JBrowse link
G Tnfsf11 TNF superfamily member 11 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20731768 NCBI chr15:60,482,527...60,512,704
Ensembl chr15:60,482,527...60,512,704
JBrowse link
G Vdr vitamin D receptor susceptibility ISO DNA:SNP:exon:rs731236(human) RGD PMID:14572874 RGD:14402032 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
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:27663155, PMID:27745832 NCBI chr 4:157,126,060...157,136,825
Ensembl chr 4:157,125,998...157,136,829
JBrowse link
G C1s complement C1s ISO ClinVar Annotator: match by term: EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2
ClinVar Annotator: match by term: Ehlers-Danlos syndrome, periodontal type, 2
ClinVar
OMIM
PMID:25741868, PMID:27745832 NCBI chr 4:157,143,592...157,155,592
Ensembl chr 4:157,143,592...157,155,609
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 OMIM
ClinVar
PMID:25741868, PMID:30290154 NCBI chr 1:222,182,997...222,192,139
Ensembl chr 1:222,183,276...222,189,604
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 ClinVar Annotator: match by term: Gingival fibromatosis with hypertrichosis ClinVar
OMIM
PMID:24831815 NCBI chr10:98,573,226...98,645,028
Ensembl chr10:98,576,039...98,644,938
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
ISS
OMIM:135300 | OMIM:605544 | OMIM:609955 | OMIM:611010
ClinVar Annotator: match by term: Gingival fibromatosis
MouseDO
ClinVar
PMID:25741868, PMID:11868160 RGD:1580011 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
JBrowse link
G Zfp862 zinc finger protein 862 ISO ClinVar Annotator: match by term: Gingival fibromatosis ClinVar PMID:25741868 NCBI chr 4:78,136,183...78,165,230 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: Gingival fibromatosis 1 ClinVar PMID:28686854 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link
G Sos1 SOS Ras/Rac guanine nucleotide exchange factor 1 ISO ClinVar Annotator: match by term: Gingival fibromatosis 1
ClinVar Annotator: match by term: Hereditary gingival fibromatosis, 1
ClinVar Annotator: match by OMIM:135300
OMIM
ClinVar
PMID:11868160, PMID:14551916, PMID:16267129, PMID:16773572, PMID:17143282, PMID:17143285, PMID:17510059, PMID:17586837, PMID:18651097, PMID:18678287, PMID:18854871, PMID:18925667, PMID:18972187, PMID:19020799, PMID:19077116, PMID:19352411, PMID:19438935, PMID:19467855, PMID:19953625, PMID:20133692, PMID:20186801, PMID:20305546, PMID:20493809, PMID:20607846, PMID:20683980, PMID:21041952, PMID:21340158, PMID:21387466, PMID:21396583, PMID:21784453, PMID:22190897, PMID:22420426, PMID:22465605, PMID:22488759, PMID:22551697, PMID:22585553, PMID:22589294, PMID:22604720, PMID:23165751, PMID:23487764, PMID:23665959, PMID:23673306, PMID:23885229, PMID:24033266, PMID:24037001, PMID:24451042, PMID:24522193, PMID:25073238, PMID:25180280, PMID:25712082, PMID:25741868, PMID:25802880, PMID:25862627, PMID:25864170, PMID:26249544, PMID:26297936, PMID:26467025, PMID:26580448, PMID:26708403, PMID:27153395, PMID:27304678, PMID:27763634, PMID:28378436, PMID:28492532, PMID:29493581, PMID:29625050, PMID:29696744, PMID:29752777, PMID:30311386 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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:28686854 NCBI chr14:33,131,985...33,152,019
Ensembl chr14:33,134,511...33,164,141
JBrowse link
Gingival Hemorrhage term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcg5 ATP binding cassette subfamily G member 5 ISO ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:32581362 NCBI chr 6:7,935,771...7,961,207
Ensembl chr 6:7,935,771...7,961,207
JBrowse link
G Cbs cystathionine beta synthase ISO ClinVar Annotator: match by term: Gingival hemorrhage ClinVar PMID:1301198, PMID:9232191, PMID:11359213, PMID:15146473, PMID:15365998, PMID:20490928, PMID:20506325, PMID:20567906, PMID:24211323, PMID:25218699, PMID:25741868, PMID:28492532, PMID:30311386 NCBI chr20:10,361,987...10,386,663
Ensembl chr20:10,361,988...10,386,751
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 3:118,315,859...118,368,464
Ensembl chr 3:118,317,761...118,366,872
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:8708960 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival hyperplasia ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 chr14:13,191,716...13,331,286
Ensembl chr14:13,192,347...13,274,978
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Gingival hypertrophy ClinVar PMID:2660074, PMID:3078962, PMID:7536460, PMID:7824936, PMID:7845675, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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, PMID:7906417, PMID:7906866, PMID:7911697, PMID:7977365, PMID:8570194, PMID:8595427, PMID:8782503, PMID:8797874, PMID:8880581, PMID:8918855, PMID:9242375, PMID:9620546, PMID:9681850, PMID:9839497, PMID:10369718, PMID:10445857, PMID:10679286, PMID:11351254, PMID:15277225, PMID:15281979, PMID:16715139, PMID:17108110, PMID:17848262, PMID:18073307, PMID:18209889, PMID:18252215, PMID:18541894, PMID:19041016, PMID:19240193, PMID:19255327, PMID:20065189, PMID:20368568, PMID:20516206, PMID:20847059, PMID:21253810, PMID:21422803, PMID:21455200, PMID:21470995, PMID:21765987, PMID:21810974, PMID:22025146, PMID:22199277, PMID:22233172, PMID:22359510, PMID:22676344, PMID:22992277, PMID:23056499, PMID:25157968, PMID:25741868, PMID:26084817, PMID:26467025, PMID:27539324, PMID:27807060, PMID:28492532 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
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 chr13:50,874,886...50,885,503
Ensembl chr13:50,873,605...50,885,563
JBrowse link
G Il6 interleukin 6 ISO associated with Diabetes Mellitus; protein:increased expression:extracellular space (human) RGD PMID:19186972 RGD:2307265 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
JBrowse link
G Tnfrsf8 TNF receptor superfamily member 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9379333 NCBI chr 5:163,186,349...163,231,578
Ensembl chr 5:163,186,349...163,231,578
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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
ClinVar Annotator: match by OMIM:245010
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:1886537, PMID:10581027, PMID:10593994, PMID:10662807, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:18809751, PMID:18945301, PMID:23311634, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
JBrowse link
Kindler syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fermt1 fermitin family member 1 ISO ClinVar Annotator: match by term: Kindler's syndrome ClinVar
OMIM
PMID:12668616, PMID:12789646, PMID:14507403, PMID:14962093, PMID:15313809, PMID:16675959, PMID:18528435, PMID:19292718, PMID:19762715, PMID:21336475, PMID:22220914, PMID:24635075, PMID:24635080, PMID:25156791, PMID:25437880, PMID:25599393, PMID:25741868, PMID:28443301, PMID:28492532 NCBI chr 3:125,566,744...125,607,864
Ensembl chr 3:125,566,643...125,607,735
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 PMID:19620960, PMID:20951944, PMID:24033266, PMID:27069254, PMID:28492532, PMID:29296819 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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 5:155,690,267...155,728,385
Ensembl chr 5:155,691,390...155,728,300
JBrowse link
G Mcam melanoma cell adhesion molecule ISO ClinVar Annotator: match by term: Noonan-Like Syndrome Disorder ClinVar NCBI chr 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
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 chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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:16267129, PMID:17143282, PMID:17143285, PMID:17586837, PMID:18651097, PMID:18854871, PMID:18925667, PMID:19020799, PMID:19352411, PMID:20305546, PMID:20493809, PMID:20683980, PMID:21387466, PMID:21784453, PMID:22190897, PMID:22465605, PMID:22488759, PMID:22585553, PMID:23487764, PMID:23885229, PMID:24033266, PMID:24037001, PMID:25712082, PMID:25741868, PMID:25862627, PMID:25864170, PMID:26297936, PMID:27304678, PMID:28378436, PMID:28492532, PMID:29625050, PMID:29696744, PMID:29752777 NCBI chr 6:3,105,443...3,182,977
Ensembl chr 6:3,104,861...3,182,996
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, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28492532, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
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: Noonan syndrome-like disorder with loose anagen hair 1 OMIM
ClinVar
PMID:18414213, PMID:19684605, PMID:20882035, PMID:21396583, PMID:21548061, PMID:21784453, PMID:22253195, PMID:22419608, PMID:22528146, PMID:22606262, PMID:22995099, PMID:23756559, PMID:23786871, PMID:23885229, PMID:23918763, PMID:24033266, PMID:24458587, PMID:24458596, PMID:25123707, PMID:25137548, PMID:25326635, PMID:25326637, PMID:25331583, PMID:25563136, PMID:25741868, PMID:25846317, PMID:28074886, PMID:28492532, PMID:29907801, PMID:30311386, PMID:30348783 NCBI chr 1:274,700,621...274,751,195
Ensembl chr 1:274,688,580...274,751,816
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
OMIM
PMID:25741868, PMID:25741869, PMID:27264673, PMID:27681385, PMID:27868344, PMID:28211982, PMID:28492532 NCBI chr 6:23,548,507...23,581,136
Ensembl chr 6:23,549,317...23,581,052
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: Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
ClinVar Annotator: match by term: Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
ClinVar Annotator: match by OMIM:613563
OMIM
ClinVar
PMID:17446348, PMID:19387008, PMID:19571318, PMID:19620960, PMID:19901108, PMID:20543203, PMID:20595524, PMID:20619386, PMID:20694012, PMID:20951944, PMID:21828135, PMID:22246246, PMID:22266821, PMID:22733026, PMID:23690417, PMID:23696637, PMID:23823657, PMID:24033266, PMID:24458550, PMID:24728327, PMID:24896146, PMID:25178484, PMID:25224413, PMID:25283271, PMID:25358541, PMID:25731833, PMID:25741868, PMID:25939664, PMID:25952305, PMID:26152360, PMID:27069254, PMID:28414188, PMID:28492532, PMID:28589114, PMID:29296819 NCBI chr 8:48,481,256...48,564,775
Ensembl chr 8:48,489,036...48,564,722
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 8:48,472,824...48,481,005
Ensembl chr 8:48,472,824...48,481,001
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, PMID:15389709, PMID:15520399, PMID:16053901, PMID:16358218, PMID:16377799, PMID:16638574, PMID:16679933, PMID:17020470, PMID:18372317, PMID:18849586, PMID:19725129, PMID:19768645, PMID:20308328, PMID:21339643, PMID:21747628, PMID:22681964, PMID:22822385, PMID:23673659, PMID:24033266, PMID:24401936, PMID:24775816, PMID:24820750, PMID:24935154, PMID:25731833, PMID:25741868, PMID:25917897, PMID:26337637, PMID:26918529, PMID:28483241, PMID:28492532, PMID:29276006, PMID:30311386 NCBI chr12:40,895,515...40,955,999
Ensembl chr12:40,895,515...40,955,999
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: Papillon-Lefèvre syndrome
ClinVar Annotator: match by term: Papillon-Lefevre Disease
ClinVar Annotator: match by OMIM:245000
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
PMID:10581027, PMID:10593994, PMID:10662807, PMID:10662808, PMID:11180012, PMID:11180601, PMID:11886537, PMID:12112662, PMID:14974080, PMID:16008657, PMID:18809751, PMID:23108224, PMID:24033266, PMID:24936511, PMID:25741868, PMID:28242153, PMID:28492532, PMID:29410039, PMID:10593994 RGD:1599638 NCBI chr 1:151,918,514...151,949,979
Ensembl chr 1:151,918,571...151,949,983
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 chr13:63,526,486...63,959,390
Ensembl chr13:63,526,486...63,959,332
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 ISO RGD PMID:20059422 RGD:8661721 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO RGD PMID:20059422 RGD:8661721
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
G Cx3cl1 C-X3-C motif chemokine ligand 1 IEP RGD PMID:23829599 RGD:9491793 NCBI chr19:10,644,267...10,654,861
Ensembl chr19:10,644,244...10,653,800
JBrowse link
G Pdgfb platelet derived growth factor subunit B IEP RGD PMID:17509411 RGD:10449488 NCBI chr 7:121,215,458...121,233,092
Ensembl chr 7:121,214,628...121,232,741
JBrowse link
G Tnfrsf11b TNF receptor superfamily member 11B IEP RGD PMID:21793936 RGD:7205516 NCBI chr 7:93,798,580...93,826,586
Ensembl chr 7:93,798,545...93,826,665
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 chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719
G Ccr3 C-C motif chemokine receptor 3 ISO RGD PMID:11683586 RGD:6893426 NCBI chr 8:133,026,539...133,040,999
Ensembl chr 8:133,029,625...133,040,997
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccl7 C-C motif chemokine ligand 7 disease_progression ISO protein:increased expression:periodontal ligament RGD PMID:20646081 RGD:6483772 NCBI chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 IEP RGD PMID:24631631 RGD:8661717
G Ciita class II, major histocompatibility complex, transactivator IDA RGD PMID:20478458 RGD:7242892 NCBI chr10:5,212,621...5,260,641
Ensembl chr10:5,213,350...5,260,608
JBrowse link
G Cxcr2 C-X-C motif chemokine receptor 2 IEP RGD PMID:22341067 RGD:7257692 NCBI chr 9:81,427,275...81,435,065
Ensembl chr 9:81,427,730...81,434,102
JBrowse link
G Fgf2 fibroblast growth factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16631837 NCBI chr 2:124,081,072...124,134,133
Ensembl chr 2:124,081,072...124,134,681
JBrowse link
G Il17a interleukin 17A IEP protein:increased expression:Periapical Tissue RGD PMID:19166776 RGD:4832829 NCBI chr 9:26,841,299...26,844,786
Ensembl chr 9:26,841,299...26,844,786
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 9:17,340,341...17,355,681
Ensembl chr 9:17,340,341...17,355,681
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 chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr2 C-C motif chemokine receptor 2 ISO mRNA:increased expression:gingiva: RGD PMID:16101967 RGD:8661719
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 1:277,537,585...277,538,985
Ensembl chr 1:277,537,585...277,538,985
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 chr20:4,363,152...4,366,079
Ensembl chr20:4,363,152...4,366,079
JBrowse link
G App amyloid beta precursor protein ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP protein:increased expression:gingiva RGD PMID:17876613 RGD:2306992 NCBI chr10:69,412,065...69,413,863
Ensembl chr10:69,412,017...69,413,870
JBrowse link
G Ccr1 C-C motif chemokine receptor 1 ISO RGD PMID:20053385 RGD:5688142 NCBI chr 8:132,996,646...133,002,201
Ensembl chr 8:132,996,649...133,002,201
JBrowse link
G Cd14 CD14 molecule IEP protein:increased expression:monocyte, neutrophil: RGD PMID:17565820 RGD:7191232 NCBI chr18:29,560,341...29,562,290
Ensembl chr18:29,560,365...29,562,153
JBrowse link
G Cd40lg CD40 ligand ISO protein:increased expression:serum (human) RGD PMID:22523383 RGD:11352302 NCBI chr  X:159,703,703...159,714,886
Ensembl chr  X:159,703,578...159,716,562
JBrowse link
G Cldn1 claudin 1 IEP mRNA,protein:decreased expression:epithelium: RGD PMID:22092031 RGD:11344891 NCBI chr11:77,815,216...77,830,373
Ensembl chr11:77,815,181...77,830,416
JBrowse link
G Crp C-reactive protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:20011938 NCBI chr13:91,080,448...91,081,358
Ensembl chr13:91,054,974...91,093,713
JBrowse link
G Cxcl12 C-X-C motif chemokine ligand 12 ISO RGD PMID:18454663 RGD:2306575 NCBI chr 4:149,261,044...149,273,891
Ensembl chr 4:149,261,044...149,273,891
JBrowse link
G Cxcl2 C-X-C motif chemokine ligand 2 IEP protein:increased expression:gingival epithelium RGD PMID:20096665 RGD:5135002 NCBI chr14:18,731,346...18,733,391
Ensembl chr14:18,731,378...18,733,391
JBrowse link
G Cyp1a1 cytochrome P450, family 1, subfamily a, polypeptide 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 8:62,472,087...62,478,122
Ensembl chr 8:62,472,095...62,478,147
JBrowse link
G Elane elastase, neutrophil expressed susceptibility ISO associated with Severe Congenital Neutropenia;DNA:mutations: : RGD PMID:21796505 RGD:10450515 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Fmod fibromodulin ISO protein:increased expression:gingiva RGD PMID:15196146 RGD:2315079 NCBI chr13:50,874,886...50,885,503
Ensembl chr13:50,873,605...50,885,563
JBrowse link
G Fpr1 formyl peptide receptor 1 ISO ClinVar Annotator: match by term: Periodontitis ClinVar PMID:17927965, PMID:24033266, PMID:28472652, PMID:28492532 NCBI chr 1:59,759,025...59,767,258
Ensembl chr 1:59,765,835...59,767,042
JBrowse link
G Ggt1 gamma-glutamyltransferase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12747453 NCBI chr20:14,019,723...14,045,781
Ensembl chr20:14,019,723...14,025,068
JBrowse link
G Gnrh1 gonadotropin releasing hormone 1 ISO DNA:snp:exon:c.59C>G (human) RGD PMID:15490304 RGD:9685136 NCBI chr15:44,441,856...44,446,064
Ensembl chr15:44,442,555...44,442,875
Ensembl chr15:44,442,555...44,442,875
JBrowse link
G Gstm1 glutathione S-transferase mu 1 ISO RGD PMID:15491310 RGD:14700983 NCBI chr 2:210,803,869...210,809,461
Ensembl chr 2:210,803,869...210,809,306
JBrowse link
G Hmgb1 high mobility group box 1 IEP protein:increased expression:gingiva RGD PMID:24692854 RGD:10402172 NCBI chr12:7,082,529...7,090,246
Ensembl chr16:37,500,017...37,502,237
JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO RGD PMID:20655098 RGD:6480271 NCBI chr 1:15,062,380...15,080,815
Ensembl chr 1:15,062,432...15,080,907
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 chr13:47,738,933...47,743,392
Ensembl chr13:47,739,526...47,743,392
JBrowse link
G Il1a interleukin 1 alpha ISO mRNA:increased expression:gingiva RGD PMID:22795294 RGD:6906881 NCBI chr 3:121,824,712...121,836,122
Ensembl chr 3:121,825,412...121,836,086
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 3:121,876,256...121,882,637
Ensembl chr 3:121,876,263...121,882,726
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 3:1,449,778...1,468,624
Ensembl chr 3:1,452,644...1,468,614
JBrowse link
G Il6 interleukin 6 susceptibility
treatment
ISO chronic periodontitis RGD PMID:17209781, PMID:27795360 RGD:1601588, RGD:14975132 NCBI chr 4:3,043,231...3,047,807
Ensembl chr 4:3,043,231...3,047,807
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 5:119,982,503...120,091,452
Ensembl chr 5:119,982,943...120,083,904
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 3:154,786,232...154,812,910
Ensembl chr 3:154,786,215...154,813,464
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 4:44,747,467...44,854,628
Ensembl chr 4:44,774,741...44,852,665
JBrowse link
G Mme membrane metallo-endopeptidase ISO mRNA:increased expression:gingiva RGD PMID:28285126 RGD:13801025 NCBI chr 2:153,799,203...153,880,910
Ensembl chr 2:153,803,349...153,880,738
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 8:5,703,206...5,723,593
Ensembl chr 8:5,703,206...5,723,591
JBrowse link
G Mmp13 matrix metallopeptidase 13 IEP RGD PMID:19393988 RGD:10043174 NCBI chr 8:5,522,739...5,533,018
Ensembl chr 8:5,522,739...5,533,018
JBrowse link
G Mmp2 matrix metallopeptidase 2 IEP protein:increased expression: periodontal ligament RGD PMID:16845949 RGD:2325939 NCBI chr19:15,542,771...15,570,589
Ensembl chr19:15,542,765...15,570,611
JBrowse link
G Mmp3 matrix metallopeptidase 3 IEP protein:increased expression:serum RGD PMID:19961752 RGD:2325862 NCBI chr 8:5,676,608...5,698,579
Ensembl chr 8:5,676,665...5,698,579
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22808498, PMID:24640096 NCBI chr 3:161,413,410...161,421,473
Ensembl chr 3:161,413,298...161,421,520
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 6:52,122,085...52,156,473
Ensembl chr 6:52,122,085...52,156,472
JBrowse link
G Ntrk1 neurotrophic receptor tyrosine kinase 1 IEP protein:increased expression:neuron RGD PMID:20200421 RGD:5684768 NCBI chr 2:187,143,568...187,160,373
Ensembl chr 2:187,143,568...187,160,373
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO RGD PMID:14630900 RGD:10413909 NCBI chr13:98,857,255...98,889,444
Ensembl chr13:98,857,177...98,889,716
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 chr10:94,850,971...94,913,202 JBrowse link
G Postn periostin IEP protein:decreased expression:mandible: RGD PMID:24212842 RGD:10041024 NCBI chr 2:143,656,820...143,688,087
Ensembl chr 2:143,656,793...143,688,087
JBrowse link
G Ppara peroxisome proliferator activated receptor alpha IDA possible therapeutic target RGD PMID:21253492 RGD:5509938 NCBI chr 7:126,618,872...126,687,282
Ensembl chr 7:126,619,196...126,681,752
JBrowse link
G Stat1 signal transducer and activator of transcription 1 treatment ISO RGD PMID:26825585 RGD:18936995 NCBI chr 9:54,287,540...54,327,958
Ensembl chr 9:54,287,541...54,484,533
JBrowse link
G Stat3 signal transducer and activator of transcription 3 treatment ISO RGD PMID:26825585 RGD:18936995 NCBI chr10:88,790,401...88,842,263
Ensembl chr10:88,790,408...88,842,233
JBrowse link
G Tnf tumor necrosis factor treatment IEP RGD PMID:24586097 RGD:10450598 NCBI chr20:5,189,382...5,192,000
Ensembl chr20:5,189,390...5,192,000
JBrowse link
G Vcam1 vascular cell adhesion molecule 1 IEP associated with obesity;protein:increased expression:aorta: RGD PMID:20065945 RGD:7240508 NCBI chr 2:219,071,193...219,090,931
Ensembl chr 2:219,071,193...219,097,619
JBrowse link
G Vdr vitamin D receptor ISO GAD PMID:15118671 RGD:1331525 NCBI chr 7:139,344,452...139,394,138
Ensembl chr 7:139,342,063...139,394,166
JBrowse link
G Vip vasoactive intestinal peptide IDA RGD PMID:19792856 RGD:5685624 NCBI chr 1:42,169,307...42,177,582
Ensembl chr 1:42,169,501...42,177,582
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 chr10:69,423,083...69,424,933
Ensembl chr10:69,423,086...69,424,979
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 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
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 chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
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:9738473, PMID:18203178, PMID:23424202, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, PMID:26264464, PMID:26818738, PMID:32581362 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
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 chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
JBrowse link
G Kcnh1 potassium voltage-gated channel subfamily H member 1 ISO ClinVar Annotator: match by term: Zimmermann-Laband syndrome 1 OMIM
ClinVar
PMID:9738473, PMID:18203178, PMID:18541964, PMID:20683999, PMID:23424202, PMID:23994350, PMID:24357613, PMID:25420144, PMID:25711872, PMID:25741868, PMID:25915598, PMID:26264464, PMID:26818738, PMID:32581362 NCBI chr13:110,920,712...111,232,291
Ensembl chr13:110,920,737...111,232,269
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 NCBI chr16:22,326,537...22,350,143
Ensembl chr16:22,326,529...22,350,155
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:31155282 NCBI chr 2:188,837,280...188,991,794
Ensembl chr 2:188,844,073...188,988,774
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    Stomatognathic Diseases 976
      tooth disease 279
        periodontal disease 109
          Furcation Defects 0
          Kindler syndrome 1
          Papillon-Lefevre disease + 1
          Peri-Implantitis 3
          Periapical Diseases + 12
          Periodontal Atrophy + 7
          Periodontal Cyst + 3
          Tooth Loss 0
          Tooth Migration + 0
          Tooth Mobility 0
          gingival disease + 24
          periodontitis + 74
          periodontosis 0
Path 2
Term Annotations click to browse term
  disease 16103
    disease of anatomical entity 15351
      nervous system disease 10863
        sensory system disease 5162
          mouth disease 750
            tooth disease 279
              periodontal disease 109
                Furcation Defects 0
                Kindler syndrome 1
                Papillon-Lefevre disease + 1
                Peri-Implantitis 3
                Periapical Diseases + 12
                Periodontal Atrophy + 7
                Periodontal Cyst + 3
                Tooth Loss 0
                Tooth Migration + 0
                Tooth Mobility 0
                gingival disease + 24
                periodontitis + 74
                periodontosis 0
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.