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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:Tooth Abnormalities
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Accession:DOID:9009007 term browser browse the term
Definition:Congenital absence of or defects in structures of the teeth.
Synonyms:exact_synonym: Odontome;   Odontomes;   Teeth Abnormalities;   teeth abnormality;   tooth abnormality
 primary_id: MESH:D014071
 alt_id: RDO:0000709
For additional species annotation, visit the Alliance of Genome Resources.



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Tooth Abnormalities term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ank progressive ankylosis ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr15:27,466,763...27,594,995
Ensembl chr15:27,466,763...27,594,995
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
G Lrp4 low density lipoprotein receptor-related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr 2:91,287,794...91,344,246
Ensembl chr 2:91,287,856...91,344,124
JBrowse link
G Msx1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Runx2 runt related transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr17:44,806,874...45,125,684
Ensembl chr17:44,806,874...45,125,684
JBrowse link
G Slc39a13 solute carrier family 39 (metal ion transporter), member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr 2:90,892,126...90,900,754
Ensembl chr 2:90,892,136...90,900,762
JBrowse link
G Tbx3 T-box 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr 5:119,808,600...119,822,789
Ensembl chr 5:119,808,734...119,822,789
JBrowse link
G Tmco1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr 1:167,136,239...167,161,547
Ensembl chr 1:167,135,947...167,161,547
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trp63 transformation related protein 63 ISO ClinVar Annotator: match by term: ADULT syndrome | ClinVar Annotator: match by term: Acro-dermato-ungual-lacrimal-tooth syndrome OMIM
ClinVar
PMID:8456838 PMID:8737655 PMID:9443880 PMID:11462173 PMID:11528512 More... NCBI chr16:25,502,513...25,710,838
Ensembl chr16:25,502,513...25,710,852
JBrowse link
amelogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27843125 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802
JBrowse link
G Amelx amelogenin, X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar
RGD
PMID:8406474 RGD:1300370 NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431
JBrowse link
G Bnc2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 4:84,185,041...84,594,132
Ensembl chr 4:84,193,332...84,593,512
JBrowse link
G Chchd2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 5:129,910,002...129,916,311
Ensembl chr 5:129,909,997...129,916,311
JBrowse link
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122
JBrowse link
G Enam enamelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Amelogenesis imperfecta
CTD
ClinVar
PMID:15649948 PMID:17652207 PMID:25741868 PMID:28492532 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908
JBrowse link
G Fam20c FAM20C, golgi associated secretory pathway kinase IMP
ISO
DNA:snp, missense mutation:cds:c.1487C>T, p.P496L (human) RGD PMID:22732358 PMID:25928877 RGD:11560487, RGD:11560491 NCBI chr 5:138,740,836...138,795,818
Ensembl chr 5:138,740,269...138,795,832
JBrowse link
G Fam83h family with sequence similarity 83, member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185
JBrowse link
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
JBrowse link
G Psph phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 5:129,842,622...129,864,318
Ensembl chr 5:129,842,622...129,864,513
JBrowse link
G Sp6 trans-acting transcription factor 6 ISO RGD PMID:22676574 RGD:10047189 NCBI chr11:96,904,395...96,915,565
Ensembl chr11:96,904,220...96,915,560
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr 9:74,017,613...74,190,485
Ensembl chr 9:74,017,638...74,190,590
JBrowse link
amelogenesis imperfecta hypomaturation type 2A2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2
OMIM:612529
OMIM
ClinVar
MouseDO
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980
JBrowse link
amelogenesis imperfecta hypomaturation type 2A3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wdr72 WD repeat domain 72 ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3
OMIM:613211
OMIM
ClinVar
MouseDO
PMID:19853237 PMID:20938048 PMID:25741868 PMID:30028003 NCBI chr 9:74,017,613...74,190,485
Ensembl chr 9:74,017,638...74,190,590
JBrowse link
amelogenesis imperfecta hypomaturation type 2A4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Odaph odontogenesis associated phosphoprotein ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A4 OMIM
ClinVar
PMID:22901946 NCBI chr 5:92,135,332...92,143,176
Ensembl chr 5:92,135,334...92,143,179
JBrowse link
amelogenesis imperfecta hypomaturation type 2A5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc24a4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar
PMID:23375655 PMID:24621671 NCBI chr12:102,094,986...102,233,392
Ensembl chr12:102,094,992...102,233,350
JBrowse link
amelogenesis imperfecta type 1A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lamb3 laminin, beta 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1A OMIM
ClinVar
PMID:7698759 PMID:7706760 PMID:8824879 PMID:8983017 PMID:9205497 More... NCBI chr 1:192,976,661...193,026,186
Ensembl chr 1:192,890,007...193,026,186
JBrowse link
amelogenesis imperfecta type 1B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant ClinVar PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122
JBrowse link
G Enam enamelin ISO
IEA
ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local
OMIM:104500
ClinVar
MouseDO
OMIM
RGD
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... RGD:1598908 NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908
JBrowse link
amelogenesis imperfecta type 1C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Enam enamelin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1C OMIM
ClinVar
PMID:14684688 PMID:16246937 PMID:17125728 PMID:19329462 PMID:20439930 More... NCBI chr 5:88,635,834...88,653,908
Ensembl chr 5:88,635,834...88,653,908
JBrowse link
G Mmp20 matrix metallopeptidase 20 (enamelysin) ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 9:7,628,232...7,674,969
Ensembl chr 9:7,628,232...7,674,980
JBrowse link
G Wdr72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr 9:74,017,613...74,190,485
Ensembl chr 9:74,017,638...74,190,590
JBrowse link
amelogenesis imperfecta type 1E term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amelx amelogenin, X-linked ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth
OMIM:301200
OMIM
ClinVar
MouseDO
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,959,110...167,970,205
Ensembl chr  X:167,959,110...167,970,196
JBrowse link
G Arhgap6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth ClinVar PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:167,578,091...168,087,436
Ensembl chr  X:167,578,095...168,087,431
JBrowse link
amelogenesis imperfecta type 1F term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ambn ameloblastin ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1F OMIM
ClinVar
PMID:24858907 PMID:25741868 PMID:26502894 PMID:28492532 NCBI chr 5:88,603,850...88,616,390
Ensembl chr 5:88,603,850...88,616,390
JBrowse link
amelogenesis imperfecta type 1G term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam20a FAM20A, golgi associated secretory pathway pseudokinase ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G OMIM
ClinVar
PMID:18597613 PMID:21549343 PMID:21990045 PMID:23434854 PMID:23468644 More... NCBI chr11:109,563,752...109,613,989
Ensembl chr11:109,560,575...109,613,105
JBrowse link
G Prkar1a protein kinase, cAMP dependent regulatory, type I, alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr11:109,539,849...109,560,489
Ensembl chr11:109,540,231...109,560,482
JBrowse link
amelogenesis imperfecta type 1H term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Itgb6 integrin beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H OMIM
ClinVar
PMID:24305999 PMID:24319098 PMID:25741868 NCBI chr 2:60,428,636...60,553,005
Ensembl chr 2:60,428,636...60,552,987
JBrowse link
amelogenesis imperfecta type 1J term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acp4 acid phosphatase 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1J OMIM
ClinVar
PMID:27843125 PMID:28513613 NCBI chr 7:43,901,427...43,910,814
Ensembl chr 7:43,901,572...43,906,802
JBrowse link
amelogenesis imperfecta type 2A1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Klk4 kallikrein related-peptidase 4 (prostase, enamel matrix, prostate) ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 OMIM
ClinVar
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 NCBI chr 7:43,530,584...43,535,228
Ensembl chr 7:43,530,584...43,535,228
JBrowse link
amelogenesis imperfecta type 2A6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpr68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, hypomaturation type, IIa6 ClinVar
OMIM
PMID:27693231 NCBI chr12:100,842,941...100,874,457
Ensembl chr12:100,842,941...100,874,457
JBrowse link
amelogenesis imperfecta type 3A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, HYPOCALCIFICATION TYPE, AUTOSOMAL DOMINANT | ClinVar Annotator: match by term: AMELOGENESIS IMPERFECTA, TYPE IIIA OMIM
ClinVar
PMID:18252228 PMID:18484629 PMID:19220331 PMID:19407157 PMID:22414746 More... NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185
JBrowse link
amelogenesis imperfecta type 3B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amtn amelotin ISO OMIM NCBI chr 5:88,523,967...88,533,775
Ensembl chr 5:88,523,967...88,533,775
JBrowse link
amelogenesis imperfecta type 3C term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Relt RELT tumor necrosis factor receptor ISO
IEA
ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c
OMIM:618386
OMIM
ClinVar
MouseDO
PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr 7:100,495,054...100,512,690
Ensembl chr 7:100,495,054...100,512,653
JBrowse link
amelogenesis imperfecta type 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type IV OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122
JBrowse link
anodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:26406231 NCBI chr11:108,808,654...108,841,609
Ensembl chr11:108,811,175...108,841,609
JBrowse link
G Dkk1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr19:30,523,276...30,526,896
Ensembl chr19:30,523,263...30,527,065
JBrowse link
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Gli3 GLI-Kruppel family member GLI3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr13:15,638,308...15,904,611
Ensembl chr13:15,637,820...15,904,611
JBrowse link
G Irx5 Iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 8:93,084,424...93,088,084
Ensembl chr 8:93,084,253...93,102,914
JBrowse link
G Itpa inosine triphosphatase (nucleoside triphosphate pyrophosphatase) ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr 2:130,506,702...130,523,534
Ensembl chr 2:130,509,530...130,523,534
JBrowse link
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101
JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
JBrowse link
G Mmp13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 9:7,272,514...7,283,333
Ensembl chr 9:7,272,514...7,283,331
JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 2:164,782,246...164,797,770
Ensembl chr 2:164,782,700...164,797,770
JBrowse link
G Msx1 msh homeobox 1 ISO autosomal dominant hypodontia, HYD1, OMIM:106600
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:8696335 RGD:1600484 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:11827258 PMID:12605438 PMID:14607846 PMID:15615874 PMID:16236760 More... NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Non-syndromic oligodontia ClinVar PMID:10431241 PMID:17125505 PMID:18065779 PMID:18561327 PMID:18704500 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
anterior segment dysgenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pitx2 paired-like homeodomain transcription factor 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:10502778 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
autosomal dominant congenital deafness with onychodystrophy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atp6v1b2 ATPase, H+ transporting, lysosomal V1 subunit B2 ISO
IEA
ClinVar Annotator: match by term: DDOD SYNDROME | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant
OMIM:124480
OMIM
ClinVar
MouseDO
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr 8:69,541,388...69,566,370
Ensembl chr 8:69,541,298...69,566,363
JBrowse link
Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DGI1/DFNA39 SYNDROME | ClinVar Annotator: match by term: Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1 | ClinVar Annotator: match by term: Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1
DNA:missense mutations:cds:p.P17T, p.V18P (human)
OMIM
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... RGD:12910984 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
JBrowse link
Axenfeld-Rieger syndrome type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxc1 forkhead box C1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr13:31,990,629...31,994,618
Ensembl chr13:31,990,616...31,996,459
JBrowse link
G Hmgn2 high mobility group nucleosomal binding domain 2 IEA OMIM:180500 MouseDO NCBI chr 4:133,692,050...133,695,302
Ensembl chr 4:133,692,049...133,695,961
JBrowse link
G Pax6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904 NCBI chr 2:105,499,241...105,528,755
Ensembl chr 2:105,499,245...105,527,709
JBrowse link
G Pitx2 paired-like homeodomain transcription factor 2 ISO
IEA
ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1
OMIM:180500
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
PMID:8944018 PMID:9685346 PMID:10490637 PMID:10502778 PMID:10644443 More... NCBI chr 3:128,993,527...129,013,243
Ensembl chr 3:128,993,527...129,013,240
JBrowse link
G Prdm5 PR domain containing 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr 6:65,754,640...65,914,606
Ensembl chr 6:65,755,972...65,913,994
JBrowse link
blepharocheilodontic syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cdh1 cadherin 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 1 OMIM
ClinVar
PMID:8033105 PMID:11747475 PMID:15235021 PMID:20373070 PMID:23709761 More... NCBI chr 8:107,329,982...107,396,879
Ensembl chr 8:107,329,983...107,396,878
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctnnd1 catenin (cadherin associated protein), delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr 2:84,417,440...84,489,321
Ensembl chr 2:84,430,415...84,481,109
Ensembl chr 2:84,430,415...84,481,109
JBrowse link
brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO
IEA
ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome
OMIM:601216
OMIM
ClinVar
MouseDO
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp1 low density lipoprotein receptor-related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:127,374,026...127,457,158
Ensembl chr10:127,374,030...127,457,017
JBrowse link
Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Runx2 runt related transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr17:44,806,874...45,125,684
Ensembl chr17:44,806,874...45,125,684
JBrowse link
CODAS syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lonp1 lon peptidase 1, mitochondrial ISO ClinVar Annotator: match by term: CODAS syndrome OMIM
ClinVar
PMID:1887855 PMID:5574826 PMID:25574826 PMID:25741868 PMID:25741869 More... NCBI chr17:56,921,297...56,933,903
Ensembl chr17:56,921,297...56,933,887
JBrowse link
Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia | ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) OMIM
ClinVar
PMID:17236138 PMID:18435799 PMID:19950373 PMID:21306635 PMID:21480479 More... NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173
JBrowse link
G LOC109115962 Fgf3 proximal promoter region ISO ClinVar Annotator: match by term: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) ClinVar PMID:18435799 PMID:21480479 PMID:25741868 PMID:28492532 PMID:33187236 NCBI chr 7:144,390,672...144,392,357 JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Il11ra1 interleukin 11 receptor, alpha chain 1 ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr 4:41,760,443...41,769,473
Ensembl chr 4:41,699,989...41,769,474
JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cftr cystic fibrosis transmembrane conductance regulator ISO RGD PMID:31942562 RGD:126928119 NCBI chr 6:18,170,686...18,322,769
Ensembl chr 6:18,170,686...18,322,767
JBrowse link
dentin dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein IEP
ISO
ISS
mRNA:decreased expression:incisor, molar (mouse)
ClinVar Annotator: match by term: ANOMALOUS DYSPLASIA OF DENTIN
OMIM:125400 | OMIM:125420
ClinVar
MouseDO
RGD
PMID:25741868 PMID:28492532 PMID:11116156 RGD:734904 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
JBrowse link
G Smoc2 SPARC related modular calcium binding 2 ISS OMIM:125400 | OMIM:125420 MouseDO NCBI chr17:14,499,768...14,625,052
Ensembl chr17:14,499,768...14,625,052
JBrowse link
G Ssu2 ssu-2 homolog (C. elegans) IEA OMIM:125400 | OMIM:125420 MouseDO NCBI chr 6:112,336,283...112,365,160
Ensembl chr 6:112,336,285...112,364,984
JBrowse link
Dentin Dysplasia, Type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smoc2 SPARC related modular calcium binding 2 ISO ClinVar Annotator: match by term: Dentin dysplasia type I | ClinVar Annotator: match by term: Dentin dysplasia, type I, with extreme microdontia and misshapen teeth OMIM
ClinVar
PMID:22152679 PMID:23317772 PMID:25741868 NCBI chr17:14,499,768...14,625,052
Ensembl chr17:14,499,768...14,625,052
JBrowse link
Dentin Dysplasia, Type 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: DENTIN DYSPLASIA, TYPE II OMIM
ClinVar
PMID:25741868 PMID:28492532 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
JBrowse link
dentinogenesis imperfecta term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 ISO associated with Osteogenesis Imperfecta;DNA:missense mutation:exon:p.G599C(human)
ClinVar Annotator: match by term: Dentinogenesis imperfecta
ClinVar
RGD
PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... RGD:11571615 NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:11317364 PMID:17078022 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Dspp dentin sialophosphoprotein ISO
IEA
IEP
ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin
OMIM:125490 | OMIM:125500
DNA:snp:intron:g.87612175G>A (human)
mRNA:decreased expression:incisor, molar (mouse)
OMIM
ClinVar
MouseDO
RGD
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 More... RGD:12910984, RGD:734904 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
JBrowse link
Dentinogenesis Imperfecta, Shields Type 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dspp dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Brandywine type dentinogenesis imperfecta
DNA:deletion, insertion:cds:p.S1160_S1171del, p.S1198_S1199insSDSSDS (human)
OMIM
ClinVar
RGD
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 More... RGD:12911015 NCBI chr 5:104,318,569...104,327,993
Ensembl chr 5:104,318,578...104,327,993
JBrowse link
DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Satb1 special AT-rich sequence binding protein 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies OMIM
ClinVar
PMID:25741868 PMID:33513338 NCBI chr17:52,043,215...52,140,318
Ensembl chr17:52,043,215...52,140,318
JBrowse link
Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dsp desmoplakin ISO ClinVar Annotator: match by term: Cardiomyopathy, dilated, with woolly hair, keratoderma, and tooth agenesis OMIM
ClinVar
PMID:15941723 PMID:16628197 PMID:16774985 PMID:16917092 PMID:20716751 More... NCBI chr13:38,335,270...38,382,553
Ensembl chr13:38,335,270...38,382,553
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
JBrowse link
ectodermal dysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia OMIM
ClinVar
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:1598881 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:96,377,447...96,420,815
Ensembl chr  X:96,377,446...96,420,822
JBrowse link
ectodermal dysplasia 10A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:28492532 NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar
RGD
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 More... RGD:1598883 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant
CTD
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Autosomal dominant hypohidrotic ectodermal dysplasia | ClinVar Annotator: match by term: Ectodermal Dysplasia 3, Anhidrotic | ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant | ClinVar Annotator: match by term: Ectodermal dysplasia 10a, hypohidrotic/hair/tooth type, autosomal dominant ClinVar PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
ectodermal dysplasia 10B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc138 coiled-coil domain containing 138 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:28492532 NCBI chr10:58,333,523...58,412,066
Ensembl chr10:58,333,770...58,412,066
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar
PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive | ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11279189 PMID:15373768 PMID:16435307 PMID:18065779 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant OMIM
ClinVar
PMID:11780064 PMID:17354266 PMID:20222921 PMID:20979233 PMID:21626677 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
ectodermal dysplasia 11B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive OMIM
ClinVar
PMID:9245989 PMID:11780064 PMID:17354266 PMID:25741868 PMID:26991760 More... NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar PMID:10431241 PMID:11035039 PMID:15013427 PMID:16435307 PMID:18231121 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
ectodermal dysplasia 12 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kdf1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type ClinVar
OMIM
PMID:27838789 NCBI chr 4:133,246,274...133,258,101
Ensembl chr 4:133,246,274...133,258,101
JBrowse link
ectodermal dysplasia 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Ectodermal dysplasia 15, hypohidrotic/hair type OMIM
ClinVar
PMID:25741868 PMID:30425301 NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ikbkg inhibitor of kappaB kinase gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1
DNA:mutation:splicing site:
OMIM
ClinVar
RGD
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... RGD:12791265 NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460
JBrowse link
Ectodermal Dysplasia and Immunodeficiency 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nfkbia nuclear factor of kappa light polypeptide gene enhancer in B cells inhibitor, alpha ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 2 OMIM
ClinVar
PMID:14523047 PMID:15337789 PMID:17931563 PMID:18412279 PMID:23708964 More... NCBI chr12:55,536,194...55,539,432
Ensembl chr12:55,536,195...55,539,432
JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Antxr1 anthrax toxin receptor 1 ISO DNA:missense mutations:cds:c.505C>T,c.262C>T (human)
ClinVar Annotator: match by term: Gapo syndrome
ClinVar
OMIM
RGD
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... RGD:9684854 NCBI chr 6:87,110,835...87,312,757
Ensembl chr 6:87,110,835...87,312,803
JBrowse link
Heimler syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C ClinVar PMID:9398847 PMID:12402331 PMID:16086329 PMID:16088892 PMID:16141001 More... NCBI chr 5:3,689,961...3,697,936
Ensembl chr 5:3,682,932...3,707,185
JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Heimler syndrome 1 | ClinVar Annotator: match by term: PEROXISOME BIOGENESIS DISORDER 1C OMIM
ClinVar
PMID:1301993 PMID:2063923 PMID:9398847 PMID:9398848 PMID:9539740 More... NCBI chr 5:3,646,066...3,687,230
Ensembl chr 5:3,646,066...3,687,232
JBrowse link
G Pex26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr 6:121,160,176...121,175,796
Ensembl chr 6:121,160,626...121,175,796
JBrowse link
G Pex6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr17:47,022,402...47,036,469
Ensembl chr17:47,022,389...47,036,467
JBrowse link
hypohidrotic ectodermal dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A IEA
ISO
IMP
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
RGD
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... RGD:14398763 NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
G Eda2r ectodysplasin A2 receptor ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia ClinVar PMID:22889853 NCBI chr  X:96,377,447...96,420,815
Ensembl chr  X:96,377,446...96,420,822
JBrowse link
G Edar ectodysplasin-A receptor IEA
ISO
OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
MouseDO
ClinVar
PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO DNA:missense mutation:exon:p.Pro153Ser(rat)
ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia
ClinVar
RGD
PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 More... RGD:14398762 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
G Ikbkg inhibitor of kappaB kinase gamma ISS OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr  X:73,436,883...73,498,013
Ensembl chr  X:73,436,896...73,497,460
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
G Traf6 TNF receptor-associated factor 6 IEA OMIM:129490 | OMIM:224900 | OMIM:300291 | OMIM:305100 MouseDO NCBI chr 2:101,508,765...101,532,013
Ensembl chr 2:101,508,774...101,532,014
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3a polymerase (RNA) III (DNA directed) polypeptide A ISO ClinVar Annotator: match by term: 4H LEUKODYSTROPHY 1 | ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy OMIM
ClinVar
PMID:614258 PMID:9536098 PMID:12605447 PMID:16199547 PMID:17159124 More... NCBI chr14:24,498,762...24,537,126
Ensembl chr14:24,498,764...24,537,126
JBrowse link
G Polr3b polymerase (RNA) III (DNA directed) polypeptide B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy
CTD
ClinVar
PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr10:84,458,156...84,563,042
Ensembl chr10:84,458,156...84,563,042
JBrowse link
G Rps24 ribosomal protein S24 ISO ClinVar Annotator: match by term: Leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 NCBI chr14:24,540,746...24,547,028
Ensembl chr14:24,537,193...24,547,027
JBrowse link
HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ctbp1 C-terminal binding protein 1 ISO ClinVar Annotator: match by term: Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome OMIM
ClinVar
PMID:25741868 PMID:27094857 PMID:28492532 PMID:28955726 PMID:29878067 More... NCBI chr 5:33,405,067...33,432,467
Ensembl chr 5:33,405,067...33,432,338
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cnnm4 cyclin M4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr 1:36,510,678...36,547,857
Ensembl chr 1:36,510,701...36,547,845
JBrowse link
KBG syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain 11 ISO ClinVar Annotator: match by term: KBG syndrome | ClinVar Annotator: match by term: Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies OMIM
ClinVar
PMID:9536098 PMID:15378538 PMID:15523620 PMID:16199547 PMID:17576681 More... NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Kat6b K(lysine) acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr14:21,549,284...21,722,546
Ensembl chr14:21,531,502...21,722,546
JBrowse link
G Setd5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr 6:113,054,326...113,130,393
Ensembl chr 6:113,054,326...113,130,396
JBrowse link
G Tbx1 T-box 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr16:18,399,729...18,409,421
Ensembl chr16:18,399,729...18,409,421
JBrowse link
G Trappc2l trafficking protein particle complex 2-like ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:123,338,365...123,342,330
Ensembl chr 8:123,338,379...123,343,399
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 4930562C15Rik RIKEN cDNA 4930562C15 gene ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,653,280...4,685,555
Ensembl chr16:4,653,280...4,685,550
JBrowse link
G Adcy9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,102,750...4,255,094
Ensembl chr16:4,105,393...4,238,362
JBrowse link
G Anks3 ankyrin repeat and sterile alpha motif domain containing 3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,759,279...4,783,362
Ensembl chr16:4,759,300...4,782,069
JBrowse link
G Cdip1 cell death inducing Trp53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,583,325...4,608,156
Ensembl chr16:4,568,212...4,608,156
JBrowse link
G Coro7 coronin 7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,444,748...4,497,584
Ensembl chr16:4,443,997...4,497,641
JBrowse link
G Crebbp CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:3,899,198...4,031,864
Ensembl chr16:3,899,192...4,031,861
JBrowse link
G Dnaaf8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,782,152...4,796,827
Ensembl chr16:4,782,153...4,796,826
JBrowse link
G Dnaja3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,501,934...4,525,559
Ensembl chr16:4,457,853...4,525,559
JBrowse link
G Glis2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,412,217...4,443,076
Ensembl chr16:4,412,577...4,442,788
JBrowse link
G Hmox2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,544,225...4,584,606
Ensembl chr16:4,544,225...4,584,606
JBrowse link
G Mgrn1 mahogunin, ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,703,964...4,756,160
Ensembl chr16:4,704,113...4,756,160
JBrowse link
G Nmral1 NmrA-like family domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,529,181...4,537,220
Ensembl chr16:4,527,923...4,537,220
JBrowse link
G Nudt16l1 nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,756,975...4,758,892
Ensembl chr16:4,756,625...4,758,896
JBrowse link
G Pam16 presequence translocase-asssociated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,434,330...4,442,810
Ensembl chr16:4,434,328...4,442,852
JBrowse link
G Rogdi rogdi homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome OMIM
ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr16:4,826,593...4,831,438
Ensembl chr16:4,826,594...4,831,417
JBrowse link
G Septin12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,804,722...4,815,716
Ensembl chr16:4,804,722...4,815,716
JBrowse link
G Smim22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,825,152...4,826,173
Ensembl chr16:4,825,152...4,826,173
JBrowse link
G Srl sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,294,843...4,359,772
Ensembl chr16:4,298,080...4,359,680
JBrowse link
G Tfap4 transcription factor AP4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,362,525...4,378,625
Ensembl chr16:4,362,525...4,377,718
JBrowse link
G Ubald1 UBA-like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,692,641...4,698,190
Ensembl chr16:4,692,642...4,698,179
JBrowse link
G Vasn vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr16:4,457,809...4,469,030
Ensembl chr16:4,457,805...4,468,666
JBrowse link
LADD syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fgf10 fibroblast growth factor 10 ISO
IEA
ClinVar Annotator: match by term: Levy-Hollister syndrome
OMIM:149730
OMIM
ClinVar
MouseDO
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr13:118,851,235...118,929,109
Ensembl chr13:118,806,327...118,928,651
JBrowse link
G Fgfr2 fibroblast growth factor receptor 2 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar
PMID:7558045 PMID:7719344 PMID:7773284 PMID:7874170 PMID:7987400 More... NCBI chr 7:129,764,181...129,868,538
Ensembl chr 7:129,764,181...132,725,079
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: LADD syndrome | ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar
PMID:1908846 PMID:7773297 PMID:8589699 PMID:8858131 PMID:9677066 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
Larsen syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chst3 carbohydrate sulfotransferase 3 ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:28492532 NCBI chr10:60,017,349...60,057,936
Ensembl chr10:60,017,354...60,055,082
JBrowse link
G Fgfr3 fibroblast growth factor receptor 3 ISO ClinVar Annotator: match by term: Larsen syndrome ClinVar PMID:7670477 PMID:8589686 PMID:9452043 PMID:9672519 PMID:10360392 More... NCBI chr 5:33,879,068...33,894,412
Ensembl chr 5:33,879,018...33,894,412
JBrowse link
G Flnb filamin, beta ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr14:14,518,185...14,651,852
Ensembl chr14:14,518,185...14,651,816
JBrowse link
Nance-Horan syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nhs NHS actin remodeling regulator ISO
IEA
ClinVar Annotator: match by term: Nance-Horan syndrome
OMIM:302350
DNA:snp, insertion, nonsense mutations:multiple (human)
OMIM
ClinVar
MouseDO
RGD
PMID:458526 PMID:2246772 PMID:14564667 PMID:15623749 PMID:16736028 More... RGD:1598795 NCBI chr  X:160,616,286...160,942,437
Ensembl chr  X:160,616,292...160,942,726
JBrowse link
oculodentodigital dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO
IEA
IMP
IAGP
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM:164200 | OMIM:257850
DNA:mutation:cd:p.G138R(mouse)
DNA:missense mutation:cds:p.P59H (human)
DNA:missense mutation: :p.H194P (human)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation:cds:p.G60S (mouse)
OMIM
ClinVar
CTD
MouseDO
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:12910132, RGD:1578474, RGD:8662400, RGD:8662375, RGD:8662372 NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 More... NCBI chr10:56,253,297...56,266,519
Ensembl chr10:56,253,426...56,278,609
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr10:55,890,389...56,106,495
Ensembl chr10:55,890,389...56,104,785
JBrowse link
Oculoskeletodental Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pik3c2a phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha ISO ClinVar Annotator: match by term: OCULOSKELETODENTAL SYNDROME OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:31034465 NCBI chr 7:115,936,500...116,042,693
Ensembl chr 7:115,936,500...116,042,684
JBrowse link
Odontochondrodysplasia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trip11 thyroid hormone receptor interactor 11 ISO ClinVar Annotator: match by term: Goldblatt syndrome OMIM
ClinVar
PMID:20089971 PMID:25741868 PMID:28492532 PMID:29872333 PMID:30728324 NCBI chr12:101,800,304...101,879,463
Ensembl chr12:101,800,302...101,879,526
JBrowse link
Odontochondrodysplasia 2 with Hearing Loss and Diabetes term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mia3 MIA SH3 domain ER export factor 3 ISO OMIM NCBI chr 1:183,107,091...183,151,091
Ensembl chr 1:183,107,682...183,150,894
JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA 16, HYPO- OR HYPERHIDROTIC/HAIR/TOOTH/NAIL TYPE | ClinVar Annotator: match by term: Odontoonychodermal dysplasia OMIM
ClinVar
PMID:2897600 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
Oligodontia-Colorectal Cancer Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Axin2 axin 2 ISO ClinVar Annotator: match by term: AXIN2-related attenuated familial adenomatous polyposis | ClinVar Annotator: match by term: Oligodontia-colorectal cancer syndrome | ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME OMIM
ClinVar
PMID:9536098 PMID:10330403 PMID:11017067 PMID:12101426 PMID:15042511 More... NCBI chr11:108,808,654...108,841,609
Ensembl chr11:108,811,175...108,841,609
JBrowse link
G Gna13 guanine nucleotide binding protein, alpha 13 ISO ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME ClinVar PMID:28492532 NCBI chr11:109,253,620...109,292,195
Ensembl chr11:109,253,657...109,292,195
JBrowse link
G Rgs9 regulator of G-protein signaling 9 ISO ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME ClinVar PMID:28492532 NCBI chr11:109,116,174...109,189,013
Ensembl chr11:109,116,181...109,188,955
JBrowse link
osteogenesis imperfecta type 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Col1a1 collagen, type I, alpha 1 IEA
ISO
OMIM:166200
ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I
MouseDO
ClinVar
OMIM
PMID:1445258 PMID:1634225 PMID:1737847 PMID:1770532 PMID:1867198 More... NCBI chr11:94,827,050...94,843,868
Ensembl chr11:94,827,050...94,843,868
JBrowse link
G Col1a2 collagen, type I, alpha 2 ISO ClinVar Annotator: match by term: OI, TYPE I | ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:458828 PMID:1642148 PMID:1990009 PMID:2010058 PMID:2824475 More... NCBI chr 6:4,505,618...4,541,543
Ensembl chr 6:4,504,814...4,541,544
JBrowse link
G Itga3 integrin alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,935,301...94,967,637
Ensembl chr11:94,935,300...94,967,627
JBrowse link
G Pdk2 pyruvate dehydrogenase kinase, isoenzyme 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,917,084...94,932,197
Ensembl chr11:94,917,084...94,932,180
JBrowse link
G Ppp1r9b protein phosphatase 1, regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,882,038...94,897,724
Ensembl chr11:94,881,861...94,897,725
JBrowse link
G Samd14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,900,213...94,916,913
Ensembl chr11:94,900,705...94,916,913
JBrowse link
G Sgca sarcoglycan, alpha (dystrophin-associated glycoprotein) ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr11:94,853,603...94,867,153
Ensembl chr11:94,853,617...94,867,153
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: KERATOSIS PALMOPLANTARIS WITH CYSTIC EYELIDS, HYPODONTIA, AND HYPOTRICHOSIS | ClinVar Annotator: match by term: Schopf-Schulz-Passarge syndrome OMIM
ClinVar
PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 PMID:20163410 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
Selective Tooth Agenesis 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 1 OMIM
ClinVar
PMID:8696335 PMID:9742121 PMID:10742093 PMID:12097313 PMID:15264286 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
Selective Tooth Agenesis 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pax9 paired box 9 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 3 OMIM
ClinVar
PMID:10615120 PMID:11781684 PMID:11827258 PMID:11941488 PMID:12605438 More... NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
JBrowse link
Selective Tooth Agenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10a wingless-type MMTV integration site family, member 10A ISO ClinVar Annotator: match by term: LATERAL INCISORS, PEGGED OR MISSING | ClinVar Annotator: match by term: TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA | ClinVar Annotator: match by term: Tooth agenesis, selective, 4 OMIM
ClinVar
PMID:2897600 PMID:16199547 PMID:17847007 PMID:19471313 PMID:19559398 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
Selective Tooth Agenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 7 OMIM
ClinVar
PMID:22813217 PMID:23033978 PMID:25741868 PMID:26387593 PMID:26963285 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
JBrowse link
Selective Tooth Agenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Wnt10b wingless-type MMTV integration site family, member 10B ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 8 OMIM
ClinVar
PMID:25741868 PMID:27321946 NCBI chr15:98,668,593...98,676,093
Ensembl chr15:98,668,593...98,676,031
JBrowse link
Selective Tooth Agenesis 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grem2 gremlin 2, DAN family BMP antagonist ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 9 OMIM
ClinVar
PMID:23401279 PMID:25741868 PMID:26416033 NCBI chr 1:174,661,351...174,749,484
Ensembl chr 1:174,661,351...174,749,385
JBrowse link
Selective Tooth Agenesis, X-Linked, 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Eda ectodysplasin-A ISO ClinVar Annotator: match by term: Tooth agenesis, selective, X-linked, 1 OMIM
ClinVar
PMID:16583127 PMID:17256800 PMID:18545687 PMID:18657636 PMID:19278982 More... NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc10a7 solute carrier family 10 (sodium/bile acid cotransporter family), member 7 ISO ClinVar Annotator: match by term: Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis OMIM
ClinVar
PMID:25741868 PMID:29878199 PMID:30082715 NCBI chr 8:79,235,957...79,460,641
Ensembl chr 8:79,235,975...79,460,632
JBrowse link
SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Polr3gl polymerase (RNA) III (DNA directed) polypeptide G like ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar
PMID:31089205 PMID:31695177 NCBI chr 3:96,485,188...96,501,497
Ensembl chr 3:96,485,188...96,501,497
JBrowse link
Singleton Merten Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599
JBrowse link
Singleton-Merten Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 1 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21070929 PMID:24686847 More... NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ddx58 DEAD/H box helicase 58 ISO ClinVar Annotator: match by term: Singleton-Merten syndrome 2 OMIM
ClinVar
PMID:25620203 PMID:25741868 PMID:28166811 PMID:28492532 NCBI chr 4:40,203,775...40,239,843
Ensembl chr 4:40,203,773...40,239,828
JBrowse link
solitary median maxillary central incisor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Shh sonic hedgehog ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome OMIM
ClinVar
PMID:9302262 PMID:11471164 PMID:12567406 PMID:15103725 PMID:25741868 NCBI chr 5:28,661,838...28,672,099
Ensembl chr 5:28,661,813...28,672,254
JBrowse link
G Six3 sine oculis-related homeobox 3 ISO ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 More... NCBI chr17:85,921,036...85,933,619
Ensembl chr17:85,921,036...85,936,730
JBrowse link
Supernumerary Tooth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lemd2 LEM domain containing 2 ISO ClinVar Annotator: match by term: Teeth, supernumerary ClinVar PMID:25741868 PMID:30905398 NCBI chr17:27,408,574...27,426,228
Ensembl chr17:27,408,574...27,423,443
JBrowse link
temtamy preaxial brachydactyly syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chsy1 chondroitin sulfate synthase 1 ISO ClinVar Annotator: match by term: Temtamy preaxial brachydactyly syndrome OMIM
ClinVar
PMID:9823490 PMID:19952732 PMID:21129727 PMID:21129728 PMID:25741868 More... NCBI chr 7:65,759,240...65,823,546
Ensembl chr 7:65,759,263...65,823,546
JBrowse link
tooth agenesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aak1 AP2 associated kinase 1 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 6:86,826,252...86,980,209
Ensembl chr 6:86,826,499...86,980,205
JBrowse link
G Axin2 axin 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More... NCBI chr11:108,808,654...108,841,609
Ensembl chr11:108,811,175...108,841,609
JBrowse link
G Bmp2 bone morphogenetic protein 2 ISO DNA:SNPs:cds:c.261A>G(p.S87S),c.570A>T (p.R190S)(human) RGD PMID:23079991 RGD:13446405 NCBI chr 2:133,394,079...133,404,816
Ensembl chr 2:133,394,079...133,404,805
JBrowse link
G Bmp4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis
DNA:SNP:cds:c.455T>C(p.V152A)(human)
ClinVar
RGD
PMID:26166641 PMID:23079991 RGD:13442494, RGD:13446405 NCBI chr14:46,620,982...46,628,126
Ensembl chr14:46,620,977...46,628,126
JBrowse link
G Eda ectodysplasin-A ISS OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926 MouseDO NCBI chr  X:99,019,212...99,444,366
Ensembl chr  X:99,019,212...99,444,368
JBrowse link
G Edar ectodysplasin-A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:58,436,602...58,511,518
Ensembl chr10:58,436,611...58,511,476
JBrowse link
G Edaradd EDAR (ectodysplasin-A receptor)-associated death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr13:12,486,090...12,535,413
Ensembl chr13:12,487,513...12,535,319
JBrowse link
G Lrp6 low density lipoprotein receptor-related protein 6 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:22813217 PMID:23033978 PMID:26963285 NCBI chr 6:134,423,439...134,543,876
Ensembl chr 6:134,423,439...134,543,928
JBrowse link
G Msx1 msh homeobox 1 IEA
ISO
ISS
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia
MouseDO
ClinVar
PMID:24914010 NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
G Pax9 paired box 9 IEA
ISO
ISS
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis
MouseDO
ClinVar
PMID:25741868 PMID:29969831 NCBI chr12:56,738,478...56,759,609
Ensembl chr12:56,738,552...56,759,607
JBrowse link
G Ranbp2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:58,282,674...58,329,977
Ensembl chr10:58,282,742...58,330,178
JBrowse link
G Rfx2 regulatory factor X, 2 (influences HLA class II expression) ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr17:57,082,897...57,138,102
Ensembl chr17:57,082,897...57,138,013
JBrowse link
G Seh1l SEH1-like (S. cerevisiae ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr18:67,907,946...67,928,557
Ensembl chr18:67,907,946...67,928,557
JBrowse link
G Slc25a21 solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr12:56,759,419...57,244,257
Ensembl chr12:56,759,419...57,244,257
JBrowse link
G Vps54 VPS54 GARP complex subunit ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr11:21,189,032...21,271,133
Ensembl chr11:21,189,281...21,271,136
JBrowse link
G Wnt10a wingless-type MMTV integration site family, member 10A ISS
ISO
OMIM:106600 | OMIM:150400 | OMIM:313500 | OMIM:602639 | OMIM:604625 | OMIM:610926
ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis
MouseDO
ClinVar
PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr 1:74,831,178...74,843,335
Ensembl chr 1:74,830,675...74,843,338
JBrowse link
tooth and nail syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Msx1 msh homeobox 1 ISO ClinVar Annotator: match by term: Hypoplastic enamel-onycholysis-hypohidrosis syndrome OMIM
ClinVar
PMID:9484139 PMID:9742121 PMID:10742093 PMID:11369996 PMID:12807959 More... NCBI chr 5:37,977,835...37,981,929
Ensembl chr 5:37,977,829...37,981,927
JBrowse link
trichodontoosseous syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dlx3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: TDO syndrome | ClinVar Annotator: match by term: Tricho-dento-osseous syndrome OMIM
ClinVar
PMID:9467018 PMID:9783705 PMID:17950683 PMID:18492670 PMID:20510228 More... NCBI chr11:95,010,943...95,016,122
Ensembl chr11:95,010,945...95,016,122
JBrowse link
Weyers acrofacial dysostosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Evc EvC ciliary complex subunit 1 ISO ClinVar Annotator: match by term: Acrofacial dysostosis of Weyers | ClinVar Annotator: match by term: Curry-Hall syndrome | ClinVar Annotator: match by term: WEYERS ACRODENTAL DYSOSTOSIS OMIM
ClinVar
PMID:7635486 PMID:10700184 PMID:18947413 PMID:19810119 PMID:19876929 More... NCBI chr 5:37,446,314...37,495,489
Ensembl chr 5:37,446,442...37,494,238
JBrowse link
G Evc2 EvC ciliary complex subunit 2 ISO ClinVar Annotator: match by term: Curry-Hall syndrome OMIM
ClinVar
PMID:16404586 PMID:17024374 PMID:18182642 PMID:19251731 PMID:19810119 More... NCBI chr 5:37,495,801...37,582,399
Ensembl chr 5:37,495,843...37,582,399
JBrowse link
X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fam83h family with sequence similarity 83, member H ISO ClinVar Annotator: match by term: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 ClinVar NCBI chr15:75,872,941...75,886,185
Ensembl chr15:75,872,942...75,886,185
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15169
    Stomatognathic Diseases 1131
      tooth disease 287
        Tooth Abnormalities 148
          AREDYLD Syndrome 0
          Ackerman Syndrome 0
          Book Syndrome 0
          CODAS syndrome 1
          Carabelli Anomaly of Maxillary Molar Teeth 0
          Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
          Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 2
          Craniosynostosis and Dental Anomalies 1
          DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
          Dens in Dente + 0
          Dermoodontodysplasia 0
          Diastema + 0
          Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
          Euhidrotic Ectodermal Dysplasia 0
          Fused Teeth 0
          Grubben de Cock Borghgraef Syndrome 0
          HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
          Hypoglossia-Hypodactylia 0
          KBG syndrome 5
          LADD syndrome 3
          Larsen syndrome 3
          Lethal Faciocardiomelic Dysplasia 0
          Nance-Horan syndrome 1
          Oculoskeletodental Syndrome 1
          Oculotrichodysplasia 0
          Odd Shapes of Teeth 0
          Odontodysplasia + 3
          Odontomicronychial Dysplasia 0
          Odontotrichoungual-Digital-Palmar Syndrome 0
          Oroacral Syndrome, Verloes-Koulischer Type 0
          Otodental Dysplasia 0
          Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
          Rodrigues Blindness 0
          Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
          Supernumerary Tooth + 1
          Taurodontism + 0
          Taurodontism, Microdontia, and Dens Invaginatus 0
          Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 0
          Tricho-Dento-Osseous Syndrome 1 0
          Weyers acrofacial dysostosis 2
          Zazam Sheriff Phillips Syndrome 0
          anodontia + 38
          anterior segment dysgenesis 4 1
          autosomal dominant congenital deafness with onychodystrophy 1
          blepharocheilodontic syndrome + 2
          dental enamel hypoplasia + 58
          dentin dysplasia + 3
          dentinogenesis imperfecta + 10
          oculodentodigital dysplasia + 2
          temtamy preaxial brachydactyly syndrome 1
          tooth agenesis + 18
Path 2
Term Annotations click to browse term
  disease 15169
    disease of anatomical entity 14826
      nervous system disease 12506
        sensory system disease 6273
          mouth disease 814
            tooth disease 287
              Tooth Abnormalities 148
                AREDYLD Syndrome 0
                Ackerman Syndrome 0
                Book Syndrome 0
                CODAS syndrome 1
                Carabelli Anomaly of Maxillary Molar Teeth 0
                Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only 1
                Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia 2
                Craniosynostosis and Dental Anomalies 1
                DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES 1
                Dens in Dente + 0
                Dermoodontodysplasia 0
                Diastema + 0
                Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis 1
                Euhidrotic Ectodermal Dysplasia 0
                Fused Teeth 0
                Grubben de Cock Borghgraef Syndrome 0
                HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME 1
                Hypoglossia-Hypodactylia 0
                KBG syndrome 5
                LADD syndrome 3
                Larsen syndrome 3
                Lethal Faciocardiomelic Dysplasia 0
                Nance-Horan syndrome 1
                Oculoskeletodental Syndrome 1
                Oculotrichodysplasia 0
                Odd Shapes of Teeth 0
                Odontodysplasia + 3
                Odontomicronychial Dysplasia 0
                Odontotrichoungual-Digital-Palmar Syndrome 0
                Oroacral Syndrome, Verloes-Koulischer Type 0
                Otodental Dysplasia 0
                Postaxial Polydactyly, with Dental and Vertebral Anomalies 0
                Rodrigues Blindness 0
                Spondyloepimetaphyseal Dysplasia with Abnormal Dentition 0
                Supernumerary Tooth + 1
                Taurodontism + 0
                Taurodontism, Microdontia, and Dens Invaginatus 0
                Teeth Noneruption of with Maxillary Hypoplasia and Genu Valgum 0
                Tricho-Dento-Osseous Syndrome 1 0
                Weyers acrofacial dysostosis 2
                Zazam Sheriff Phillips Syndrome 0
                anodontia + 38
                anterior segment dysgenesis 4 1
                autosomal dominant congenital deafness with onychodystrophy 1
                blepharocheilodontic syndrome + 2
                dental enamel hypoplasia + 58
                dentin dysplasia + 3
                dentinogenesis imperfecta + 10
                oculodentodigital dysplasia + 2
                temtamy preaxial brachydactyly syndrome 1
                tooth agenesis + 18
paths to the root