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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 ANKH ANKH inorganic pyrophosphate transport regulator ISO CTD Direct Evidence: marker/mechanism CTD PMID:18027777 NCBI chr 4:88,149,250...88,263,926
Ensembl chr 4:88,149,257...88,272,464
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10631169 NCBI chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
JBrowse link
G LRP4 LDL receptor related protein 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16207730 NCBI chr18:42,616,683...42,667,297
Ensembl chr18:42,616,426...42,665,794
JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630905 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
JBrowse link
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:7559133 PMID:9363853
G PITX2 paired like homeodomain 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10499585 NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G RUNX2 RUNX family transcription factor 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14688224 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785
JBrowse link
G SLC39A13 solute carrier family 39 member 13 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18985159 PMID:22228435 NCBI chr18:42,221,311...42,229,992
Ensembl chr18:42,222,333...42,227,361
JBrowse link
G TBX3 T-box transcription factor 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9207801 NCBI chr26:11,694,885...11,709,594
Ensembl chr26:11,696,565...11,708,918
JBrowse link
G TMCO1 transmembrane and coiled-coil domains 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20018682 NCBI chr38:17,579,540...17,630,701
Ensembl chr38:17,579,607...17,630,283
JBrowse link
ADULT syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TP63 tumor protein p63 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 chr34:21,766,861...21,985,095
Ensembl chr34:21,766,496...21,983,046
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 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137
JBrowse link
G AMELX amelogenin X-linked ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351
JBrowse link
G ARHGAP6 Rho GTPase activating protein 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr  X:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557
JBrowse link
G BNC2 basonuclin 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr11:36,511,581...36,950,111
Ensembl chr11:36,514,166...36,950,679
JBrowse link
G CHCHD2 coiled-coil-helix-coiled-coil-helix domain containing 2 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar NCBI chr 6:581,276...585,367
Ensembl chr 6:581,280...585,301
JBrowse link
G DLX3 distal-less homeobox 3 ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:25741868 NCBI chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
JBrowse link
G ENAM enamelin IAGP
ISO
Amelogenesis imperfecta, ENAM-related
ClinVar Annotator: match by term: Amelogenesis imperfecta
OMIA
ClinVar
PMID:23638899 PMID:25741868 PMID:28492532 PMID:29201383 PMID:29744112 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
JBrowse link
G FAM20C FAM20C golgi associated secretory pathway kinase IAGP Dental hypomineralization OMIA PMID:27187611 PMID:27803843 NCBI chr 6:16,448,603...16,497,064
Ensembl chr 6:16,448,588...16,497,752
JBrowse link
G FAM83H family with sequence similarity 83 member H ISO CTD Direct Evidence: marker/mechanism CTD PMID:18484629 PMID:19407157 NCBI chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
JBrowse link
G GPR68 G protein-coupled receptor 68 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:27693231 NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25669657 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G PSPH phosphoserine phosphatase ISO ClinVar Annotator: match by term: Congenital enamel hypoplasia ClinVar PMID:28492532 NCBI chr 6:493,152...546,176
Ensembl chr 6:493,176...512,089
JBrowse link
G SP6 Sp6 transcription factor ISO RGD PMID:22676574 RGD:10047189 NCBI chr 9:24,175,979...24,183,245
Ensembl chr 9:24,178,438...24,179,568
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta ClinVar PMID:24033266 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
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 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A2 OMIM
ClinVar
PMID:15744043 PMID:16246936 PMID:18096894 PMID:19966041 PMID:21597265 More... NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071
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 ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A3 OMIM
ClinVar
PMID:19853237 PMID:20938048 PMID:25741868 PMID:30028003 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
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 chr32:133,974...141,303
Ensembl chr32:133,816...140,958
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 member 4 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta hypomaturation type 2A5 OMIM
ClinVar
PMID:23375655 PMID:24621671 NCBI chr 8:1,570,833...1,685,135
Ensembl chr 8:1,517,560...1,680,208
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 subunit 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 7:8,272,326...8,313,322
Ensembl chr 7:8,272,736...8,310,474
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 chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
JBrowse link
G ENAM enamelin ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Dominant | ClinVar Annotator: match by term: Amelogenesis imperfecta - hypoplastic autosomal dominant - local OMIM
ClinVar
PMID:11487571 PMID:11978766 PMID:14684688 PMID:16246937 PMID:17125728 More... NCBI chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
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 chr13:59,934,299...59,948,279
Ensembl chr13:59,934,299...59,947,949
JBrowse link
G MMP20 matrix metallopeptidase 20 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar NCBI chr 5:29,106,717...29,154,628
Ensembl chr 5:29,106,717...29,155,071
JBrowse link
G WDR72 WD repeat domain 72 ISO ClinVar Annotator: match by term: Amelogenesis Imperfecta, Recessive ClinVar PMID:25741868 NCBI chr30:19,120,021...19,340,781
Ensembl chr30:19,122,674...19,326,874
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 ClinVar Annotator: match by term: Amelogenesis imperfecta type 1E | ClinVar Annotator: match by term: Amelogenesis imperfecta, type 1E, with snow-capped teeth OMIM
ClinVar
PMID:1483698 PMID:1916828 PMID:1967204 PMID:3169793 PMID:4623931 More... NCBI chr  X:7,822,513...7,828,692
Ensembl chr  X:7,822,859...7,830,351
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:7,704,838...8,188,358
Ensembl chr  X:7,706,156...7,951,557
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 chr13:59,899,968...59,912,699
Ensembl chr13:59,899,960...59,912,655
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 chr 9:15,205,887...15,218,873
Ensembl chr 9:15,207,300...15,230,447
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1G ClinVar PMID:21990045 PMID:23434854 PMID:23468644 PMID:24196488 PMID:25741868 More... NCBI chr 9:15,180,940...15,203,035
Ensembl chr 9:15,181,393...15,200,683
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 subunit beta 6 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 1H OMIM
ClinVar
PMID:24305999 PMID:24319098 PMID:25741868 NCBI chr36:5,833,206...5,962,699
Ensembl chr36:5,834,638...5,962,633
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 1:106,051,901...106,056,137
Ensembl chr 1:106,051,901...106,056,137
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 ISO ClinVar Annotator: match by term: Amelogenesis imperfecta type 2A1 OMIM
ClinVar
PMID:204700 PMID:15235027 PMID:21597265 PMID:23355523 PMID:28611678 NCBI chr 1:105,950,948...105,955,464
Ensembl chr 1:105,951,691...106,007,581
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 OMIM
ClinVar
PMID:27693231 NCBI chr 8:62,090,050...62,108,922
Ensembl chr 8:62,092,135...62,093,217
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 chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
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 chr13:59,855,278...59,867,133
Ensembl chr13:59,852,490...59,867,516
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 TNF receptor ISO ClinVar Annotator: match by term: Amelogenesis imperfecta, type 3c OMIM
ClinVar
PMID:28492532 PMID:30506946 PMID:32052416 NCBI chr21:24,835,792...24,854,739
Ensembl chr21:24,836,858...24,854,023
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 chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
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 chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
JBrowse link
G DKK1 dickkopf WNT signaling pathway inhibitor 1 ISO DNA:SNP: :rs11001553 (human) RGD PMID:22984994 RGD:12738234 NCBI chr26:35,697,428...35,701,596
Ensembl chr26:35,697,618...35,701,496
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:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G GLI3 GLI family zinc finger 3 ISO DNA:SNP: :rs929387 (human) RGD PMID:22984994 RGD:12738234 NCBI chr18:7,800,817...8,071,531
Ensembl chr18:7,801,394...8,068,132
JBrowse link
G IRX5 iroquois homeobox 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22581230 NCBI chr 2:60,957,353...60,978,782
Ensembl chr 2:60,968,193...61,041,385
JBrowse link
G ITPA inosine triphosphatase ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30856165 NCBI chr24:18,070,980...18,081,815
Ensembl chr24:18,064,983...18,082,163
JBrowse link
G KDF1 keratinocyte differentiation factor 1 ISO ClinVar Annotator: match by term: Partial congenital absence of teeth ClinVar NCBI chr 2:73,198,278...73,206,691
Ensembl chr 2:73,197,580...73,207,153
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19344874 PMID:25899461 NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
G MMP13 matrix metallopeptidase 13 ISO DNA:SNP: :rs2252070 (human) RGD PMID:24351915 RGD:13204812 NCBI chr 5:28,793,568...28,864,832
Ensembl chr 5:28,850,522...28,864,121
JBrowse link
G MMP9 matrix metallopeptidase 9 ISO DNA:SNP: :rs17576 (human) RGD PMID:24351915 RGD:13204812 NCBI chr24:33,274,260...33,281,116
Ensembl chr24:33,274,268...33,281,293
JBrowse link
G MSX1 msh homeobox 1 ISO CTD Direct Evidence: marker/mechanism
autosomal dominant hypodontia, HYD1, OMIM:106600
CTD
RGD
PMID:8696335 RGD:1600484 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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 chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 2 ISO ClinVar Annotator: match by term: Anterior segment dysgenesis 4 | ClinVar Annotator: match by term: Iris hypoplasia with early onset glaucoma, autosomal dominant OMIM
ClinVar
PMID:7581385 PMID:8942889 PMID:9437321 PMID:9618168 PMID:25741868 More... NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
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 V1 subunit B2 ISO ClinVar Annotator: match by term: DDOD SYNDROME | ClinVar Annotator: match by term: Deafness, congenital, with onychodystrophy, autosomal dominant OMIM
ClinVar
PMID:24913193 PMID:25741868 PMID:28396750 NCBI chr25:36,833,246...36,858,846
Ensembl chr25:36,834,196...36,858,819
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 OMIM
ClinVar
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:26467025 More... NCBI chr32:11,017,440...11,022,780 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
G PAX6 paired box 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:14630904
G PITX2 paired like homeodomain 2 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 OMIM
ClinVar
PMID:8944018 PMID:9685346 PMID:10490637 PMID:11301317 PMID:11487566 More... NCBI chr32:30,710,161...30,730,162
Ensembl chr32:30,710,685...30,730,273
JBrowse link
G PRDM5 PR/SET domain 5 ISO ClinVar Annotator: match by term: Axenfeld-Rieger syndrome type 1 ClinVar PMID:26489929 NCBI chr19:19,129,418...19,327,377
Ensembl chr19:19,129,081...19,325,590
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 5:80,757,508...80,834,878
Ensembl chr 5:80,757,508...80,834,878
JBrowse link
blepharocheilodontic syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CTNND1 catenin delta 1 ISO ClinVar Annotator: match by term: Blepharocheilodontic syndrome 2 OMIM
ClinVar
PMID:25741868 PMID:28301459 PMID:29805042 NCBI chr18:38,415,687...38,469,777
Ensembl chr18:38,417,701...38,462,216
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 ClinVar Annotator: match by term: Brachyolmia-amelogenesis imperfecta syndrome OMIM
ClinVar
PMID:9536098 PMID:11790802 PMID:16199547 PMID:17576681 PMID:19213025 More... NCBI chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433
JBrowse link
Burnett Schwartz Berberian Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP1 LDL receptor related protein 1 ISO ClinVar Annotator: match by term: Keratosis pilaris ClinVar PMID:25741868 PMID:26142438 PMID:28381441 NCBI chr10:1,260,256...1,341,705
Ensembl chr10:1,260,719...1,352,271
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 RUNX family transcription factor 2 ISO ClinVar Annotator: match by term: Cleidocranial dysplasia, forme fruste, dental anomalies only ClinVar PMID:10545612 NCBI chr12:13,723,535...13,842,565
Ensembl chr12:13,628,539...13,840,785
Ensembl chr12:13,628,539...13,840,785
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 chr20:54,312,678...54,334,142
Ensembl chr20:54,312,678...54,334,141
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 chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009
JBrowse link
Craniosynostosis and Dental Anomalies term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IL11RA interleukin 11 receptor subunit alpha ISO ClinVar Annotator: match by term: Craniosynostosis and dental anomalies OMIM
ClinVar
PMID:21741611 PMID:25741868 PMID:34906502 NCBI chr11:51,324,915...51,341,981 JBrowse link
dental enamel hypoplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CFTR CF transmembrane conductance regulator ISO RGD PMID:31942562 RGD:126928119 NCBI chr14:56,290,417...56,452,919
Ensembl chr14:56,290,275...56,453,977
JBrowse link
dentin dysplasia 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: ANOMALOUS DYSPLASIA OF DENTIN ClinVar PMID:25741868 PMID:28492532 NCBI chr32:11,017,440...11,022,780 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 chr 1:55,826,354...55,986,053
Ensembl chr 1:55,825,666...55,986,052
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 chr32:11,017,440...11,022,780 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 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7691343 PMID:7695699 PMID:8218237 PMID:9016532 PMID:17078022 More... NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain ISO ClinVar Annotator: match by term: Dentinogenesis imperfecta ClinVar PMID:7695699 PMID:8218237 PMID:9016532 PMID:11317364 PMID:17078022 More... NCBI chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G DSPP dentin sialophosphoprotein ISO ClinVar Annotator: match by term: Capdepont teeth | ClinVar Annotator: match by term: Hereditary Opalescent Dentin | ClinVar Annotator: match by term: Opalescent dentin OMIM
ClinVar
PMID:11175779 PMID:11175790 PMID:14758537 PMID:15592686 PMID:18456718 More... NCBI chr32:11,017,440...11,022,780 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 OMIM
ClinVar
PMID:11175790 PMID:15592686 PMID:22392858 PMID:25741868 PMID:28492532 NCBI chr32:11,017,440...11,022,780 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 SATB homeobox 1 ISO ClinVar Annotator: match by term: Developmental delay with dysmorphic facies and dental anomalies OMIM
ClinVar
PMID:25741868 PMID:33513338 NCBI chr23:24,614,198...24,692,254
Ensembl chr23:24,593,489...24,690,977
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 chr35:7,479,628...7,524,732
Ensembl chr35:7,479,643...7,524,044
JBrowse link
Dysmyelinating Leukodystrophy with Oligodontia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G POLR3A RNA polymerase III subunit A ISO ClinVar Annotator: match by term: Dentoleukoencephalopathy ClinVar PMID:22855961 PMID:25741868 PMID:27029625 PMID:28459997 PMID:28492532 More... NCBI chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
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
PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
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 chr10:34,976,341...35,086,080
Ensembl chr10:34,976,670...35,086,297
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
PMID:9536098 PMID:10431241 PMID:11035039 PMID:15013427 PMID:16029325 More... NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant ClinVar PMID:9245989 PMID:11780064 PMID:17354266 PMID:20222921 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 chr10:34,976,341...35,086,080
Ensembl chr10:34,976,670...35,086,297
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive ClinVar NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
ectodermal dysplasia 11A term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDARADD EDAR 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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR 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 chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
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 OMIM
ClinVar
PMID:27838789 NCBI chr 2:73,198,278...73,206,691
Ensembl chr 2:73,197,580...73,207,153
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 chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780
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 nuclear factor kappa B kinase regulatory subunit gamma ISO ClinVar Annotator: match by term: Ectodermal dysplasia and immunodeficiency 1 OMIM
ClinVar
PMID:117248 PMID:8169255 PMID:11047757 PMID:11179023 PMID:11224521 More... NCBI chr  X:122,232,052...122,253,499
Ensembl chr  X:122,235,878...122,250,562
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 NFKB 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 chr 8:14,100,203...14,103,453
Ensembl chr 8:14,100,671...14,103,433
JBrowse link
GAPO syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANTXR1 ANTXR cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Gapo syndrome OMIM
ClinVar
PMID:9180938 PMID:9298746 PMID:23602711 PMID:24033266 PMID:25045128 More... NCBI chr10:67,829,573...68,021,368
Ensembl chr10:67,829,225...68,019,127
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 chr14:18,043,857...18,054,340
Ensembl chr14:18,043,671...18,052,979
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 chr14:18,073,759...18,144,489
Ensembl chr14:18,073,758...18,143,152
JBrowse link
G PEX26 peroxisomal biogenesis factor 26 ISO ClinVar Annotator: match by term: Heimler syndrome 1 ClinVar PMID:28492532 NCBI chr27:45,675,537...45,688,026
Ensembl chr27:45,675,472...45,725,681
JBrowse link
G PEX6 peroxisomal biogenesis factor 6 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr12:11,503,184...11,514,977
Ensembl chr12:11,503,240...11,514,929
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 ISO ClinVar Annotator: match by term: Hypohidrotic X-linked ectodermal dysplasia | ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:8696334 PMID:9507389 PMID:9536098 PMID:9630076 PMID:9683615 More... NCBI chr  X:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:18065779 PMID:18561327 PMID:18704500 PMID:24033266 PMID:25741868 More... NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Hypohidrotic ectodermal dysplasia ClinVar PMID:20222921 PMID:20979233 PMID:21626677 PMID:25741868 PMID:28492532 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
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 chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
G WNT10A Wnt 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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 RNA polymerase III subunit 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 chr 4:27,834,197...27,883,065
Ensembl chr 4:27,835,612...27,883,436
JBrowse link
G POLR3B RNA polymerase III subunit B ISO ClinVar Annotator: match by term: POLR3-related leukodystrophy | ClinVar Annotator: match by term: Pol III-related leukodystrophy ClinVar PMID:22036172 PMID:22855961 PMID:23355746 PMID:24190003 PMID:25339210 More... NCBI chr10:32,202,188...32,309,775
Ensembl chr10:32,202,190...32,309,614
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 chr 4:27,886,872...27,893,145
Ensembl chr 4:27,877,075...27,908,806
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 3:91,385,733...91,400,252
Ensembl chr 3:91,379,049...91,400,656
JBrowse link
Jalili syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4 ISO ClinVar Annotator: match by term: Jalili syndrome OMIM
ClinVar
PMID:3236352 PMID:9536098 PMID:15173235 PMID:17576681 PMID:19200525 More... NCBI chr10:45,157,418...45,197,323
Ensembl chr10:45,138,538...45,197,244
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 containing 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 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G KAT6B lysine acetyltransferase 6B ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:25741868 NCBI chr 4:25,131,580...25,303,355
Ensembl chr 4:25,131,844...25,301,825
JBrowse link
G SETD5 SET domain containing 5 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr20:8,681,714...8,766,013
Ensembl chr20:8,683,738...8,732,674
JBrowse link
G TBX1 T-box transcription factor 1 ISO ClinVar Annotator: match by term: KBG syndrome ClinVar NCBI chr26:29,529,071...29,533,240
Ensembl chr26:29,528,878...29,532,784
JBrowse link
G TRAPPC2L trafficking protein particle complex subunit 2L ISO ClinVar Annotator: match by term: KBG syndrome ClinVar PMID:21782149 PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 5:64,529,186...64,534,090
Ensembl chr 5:64,530,746...64,534,035
JBrowse link
Kohlschutter-Tonz syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY9 adenylate cyclase 9 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,213,251...37,334,820
Ensembl chr 6:37,213,227...37,331,563
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 chr 6:36,678,916...36,711,096
Ensembl chr 6:36,669,590...36,710,807
JBrowse link
G C6H16orf96 chromosome 6 C16orf96 homolog ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,793,546...36,838,116
Ensembl chr 6:36,795,470...36,837,972
JBrowse link
G CDIP1 cell death inducing p53 target 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,854,124...36,880,231
Ensembl chr 6:36,854,141...36,880,230
JBrowse link
G CREBBP CREB binding protein ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,410,201...37,536,688
Ensembl chr 6:37,409,930...37,534,176
JBrowse link
G DNAAF8 dynein axonemal assembly factor 8 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,665,193...36,678,860
Ensembl chr 6:36,665,455...36,678,680
JBrowse link
G DNAJA3 DnaJ heat shock protein family (Hsp40) member A3 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,921,941...36,967,718
Ensembl chr 6:36,917,858...36,967,689
JBrowse link
G GLIS2 GLIS family zinc finger 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,048,380...37,069,740
Ensembl chr 6:37,048,367...37,088,880
JBrowse link
G HMOX2 heme oxygenase 2 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,881,073...36,898,062
Ensembl chr 6:36,881,506...36,898,042
JBrowse link
G LOC102152446 coronin-7 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,980,302...37,038,210 JBrowse link
G MGRN1 mahogunin ring finger 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,716,071...36,775,893
Ensembl chr 6:36,716,343...36,769,417
JBrowse link
G NMRAL1 NmrA like redox sensor 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,918,303...36,927,581
Ensembl chr 6:36,916,787...36,927,578
JBrowse link
G NUDT16L1 nudix hydrolase 16 like 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,711,351...36,713,931
Ensembl chr 6:36,711,671...36,713,896
Ensembl chr 6:36,711,671...36,713,896
JBrowse link
G PAM16 presequence translocase associated motor 16 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,040,484...37,047,708 JBrowse link
G ROGDI rogdi atypical leucine zipper ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome OMIM
ClinVar
PMID:3236364 PMID:4372200 PMID:8133980 PMID:9536098 PMID:16199547 More... NCBI chr 6:36,618,670...36,624,533
Ensembl chr 6:36,491,561...36,624,532
JBrowse link
G SEPTIN12 septin 12 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,630,038...36,641,920
Ensembl chr 6:36,630,117...36,641,924
JBrowse link
G SMIM22 small integral membrane protein 22 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,624,080...36,625,631
Ensembl chr 6:36,624,992...36,625,505
JBrowse link
G SRL sarcalumenin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,113,398...37,163,133
Ensembl chr 6:37,124,499...37,160,955
JBrowse link
G TFAP4 transcription factor AP-4 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,075,462...37,111,039
Ensembl chr 6:37,097,786...37,111,072
JBrowse link
G UBALD1 UBA like domain containing 1 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,783,875...36,794,526
Ensembl chr 6:36,786,762...36,787,452
JBrowse link
G VASN vasorin ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:37,014,704...37,025,734
Ensembl chr 6:37,015,333...37,017,351
JBrowse link
G ZNF500 zinc finger protein 500 ISO ClinVar Annotator: match by term: Amelocerebrohypohidrotic syndrome ClinVar PMID:28492532 NCBI chr 6:36,646,310...36,663,266
Ensembl chr 6:36,654,503...36,663,280
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 ClinVar Annotator: match by term: Levy-Hollister syndrome OMIM
ClinVar
PMID:15654336 PMID:16501574 PMID:16630169 PMID:17213838 PMID:25741868 NCBI chr 4:65,851,130...65,930,944
Ensembl chr 4:65,851,069...65,928,192
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 chr28:31,303,882...31,411,015
Ensembl chr28:31,303,894...31,411,621
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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
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 chr 4:22,668,430...22,699,157
Ensembl chr 4:22,691,336...22,694,254
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 3:62,309,128...62,318,932
Ensembl chr 3:62,303,756...62,323,896
JBrowse link
G FLNB filamin B ISO ClinVar Annotator: match by term: FLNB-Related Spectrum Disorders | ClinVar Annotator: match by term: Larsen syndrome OMIM
ClinVar
PMID:9536098 PMID:14991055 PMID:16648377 PMID:16752402 PMID:16801345 More... NCBI chr20:32,394,755...32,533,440
Ensembl chr20:32,396,165...32,533,275
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 ClinVar Annotator: match by term: Nance-Horan syndrome OMIM
ClinVar
PMID:458526 PMID:2246772 PMID:14564667 PMID:15623749 PMID:16736028 More... NCBI chr  X:13,487,919...13,834,869
Ensembl chr  X:13,488,515...13,831,386
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 ClinVar Annotator: match by term: Oculodentodigital dysplasia OMIM
ClinVar
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... NCBI chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
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 chr 1:60,941,772...60,944,694
Ensembl chr 1:60,929,097...60,942,936
JBrowse link
G TBC1D32 TBC1 domain family member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr 1:60,662,704...60,873,881
Ensembl chr 1:60,667,721...60,873,614
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 chr21:39,693,211...39,868,603
Ensembl chr21:39,695,520...39,784,639
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 chr 8:1,244,104...1,314,251
Ensembl chr 8:1,247,155...1,354,720
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 chr38:16,880,411...16,936,368
Ensembl chr38:16,879,740...16,935,844
JBrowse link
Odontoonychodermal Dysplasia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt 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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
JBrowse link
G GNA13 G protein subunit alpha 13 ISO ClinVar Annotator: match by term: TOOTH AGENESIS-COLORECTAL CANCER SYNDROME ClinVar PMID:28492532 NCBI chr 9:14,932,341...14,972,857
Ensembl chr 9:14,932,335...14,967,881
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 chr 9:14,809,977...14,905,299
Ensembl chr 9:14,809,864...14,905,197
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 chain ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type 1 with dentinogenesis imperfecta | ClinVar Annotator: match by term: Osteogenesis imperfecta type I OMIM
ClinVar
PMID:1445258 PMID:1634225 PMID:1737847 PMID:1770532 PMID:1867198 More... NCBI chr 9:26,183,852...26,199,927
Ensembl chr 9:26,183,852...26,199,927
JBrowse link
G COL1A2 collagen type I alpha 2 chain 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 chr14:19,883,731...19,919,527
Ensembl chr14:19,883,868...19,919,527
JBrowse link
G ITGA3 integrin subunit alpha 3 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,065,792...26,095,649
Ensembl chr 9:26,062,393...26,094,422
JBrowse link
G PDK2 pyruvate dehydrogenase kinase 2 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,099,457...26,116,094
Ensembl chr 9:26,100,343...26,115,423
JBrowse link
G PPP1R9B protein phosphatase 1 regulatory subunit 9B ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,135,982...26,152,303
Ensembl chr 9:26,137,464...26,151,810
JBrowse link
G SAMD14 sterile alpha motif domain containing 14 ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,116,362...26,131,975
Ensembl chr 9:26,117,707...26,132,132
JBrowse link
G SGCA sarcoglycan alpha ISO ClinVar Annotator: match by term: Osteogenesis imperfecta type I ClinVar PMID:25944380 NCBI chr 9:26,164,784...26,178,249
Ensembl chr 9:26,164,863...26,174,864
JBrowse link
Schopf-Schulz-Passarge syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt 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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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 chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
Selective Tooth Agenesis 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10A Wnt 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 chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
JBrowse link
Selective Tooth Agenesis 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LRP6 LDL 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 chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437
JBrowse link
Selective Tooth Agenesis 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G WNT10B Wnt family member 10B ISO ClinVar Annotator: match by term: Tooth agenesis, selective, 8 OMIM
ClinVar
PMID:25741868 PMID:27321946 NCBI chr27:5,599,905...5,605,506
Ensembl chr27:5,601,089...5,605,501
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 7:32,048,151...32,157,698
Ensembl chr 7:32,048,183...32,157,146
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:54,078,694...54,515,535
Ensembl chr  X:54,078,966...54,515,535
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 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 chr15:44,718,085...44,957,787
Ensembl chr15:44,720,629...44,957,495
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 RNA polymerase III subunit GL ISO ClinVar Annotator: match by term: Short stature, oligodontia, dysmorphic facies, and motor delay OMIM
ClinVar
PMID:31089205 PMID:31695177 NCBI chr17:58,751,942...58,764,946
Ensembl chr17:58,751,604...58,764,881
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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
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 chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048
JBrowse link
Singleton-Merten Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX58 DExD/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 chr11:49,764,252...49,799,626
Ensembl chr11:49,764,267...49,799,527
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 signaling molecule 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 chr16:18,650,553...18,663,571
Ensembl chr16:18,484,809...18,662,903
JBrowse link
G SIX3 SIX 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 chr10:47,332,875...47,369,359
Ensembl chr10:47,332,888...47,343,635
JBrowse link
Supernumerary Tooth term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LEMD2 LEM domain nuclear envelope protein 2 ISO ClinVar Annotator: match by term: Teeth, supernumerary ClinVar PMID:25741868 PMID:30905398 NCBI chr12:3,114,175...3,131,779
Ensembl chr12:3,115,460...3,131,919
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 3:39,844,227...39,916,484
Ensembl chr 3:39,844,195...40,021,573
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 chr10:68,181,584...68,336,266
Ensembl chr10:68,134,902...68,335,988
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 chr 9:14,559,476...14,588,950
Ensembl chr 9:14,559,388...14,588,530
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 chr24:15,199,667...15,211,509
Ensembl chr24:15,200,291...15,212,217
JBrowse link
G BMP4 bone morphogenetic protein 4 susceptibility ISO DNA:SNP: :rs17563(human)
ClinVar Annotator: match by term: Tooth agenesis
RGD
ClinVar
PMID:26166641 RGD:13442494 NCBI chr 8:29,997,563...30,254,307
Ensembl chr 8:29,997,569...30,004,557
JBrowse link
G CEP192 centrosomal protein 192 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr 7:78,352,153...78,383,546
Ensembl chr 7:78,351,992...78,541,669
JBrowse link
G EDAR ectodysplasin A receptor ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:34,873,311...34,943,140
Ensembl chr10:34,848,526...34,940,784
JBrowse link
G EDARADD EDAR associated death domain ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr 4:3,608,545...3,659,357
Ensembl chr 4:3,610,079...3,669,789
JBrowse link
G LRP6 LDL 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 chr27:34,003,334...34,166,334
Ensembl chr27:34,003,539...34,161,437
JBrowse link
G MSX1 msh homeobox 1 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:24914010 NCBI chr 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
JBrowse link
G PAX9 paired box 9 ISO ClinVar Annotator: match by term: Oligodontia | ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 PMID:29969831 NCBI chr 8:15,221,852...15,239,629
Ensembl chr 8:15,221,730...15,239,099
JBrowse link
G RANBP2 RAN binding protein 2 ISO ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr10:35,088,175...35,181,248
Ensembl chr10:35,088,872...35,181,129
JBrowse link
G RFX2 regulatory factor X2 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr20:54,013,556...54,111,783
Ensembl chr20:54,070,051...54,110,220
JBrowse link
G SLC25A21 solute carrier family 25 member 21 ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr 8:15,239,634...15,708,964
Ensembl chr 8:15,238,719...15,708,526
JBrowse link
G VPS54 VPS54 subunit of GARP complex ISO ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr10:63,598,373...63,676,753
Ensembl chr10:63,599,229...63,676,747
JBrowse link
G WNT10A Wnt family member 10A ISO ClinVar Annotator: match by term: Selective tooth agenesis | ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:17847007 PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 More... NCBI chr37:25,463,064...25,475,407
Ensembl chr37:25,462,748...25,474,764
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 3:70,232,790...70,236,295
Ensembl chr 3:70,232,052...70,236,447
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 chr 9:26,018,101...26,022,964
Ensembl chr 9:26,017,689...26,022,736
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 3:70,937,957...71,007,431
Ensembl chr 3:70,937,926...71,016,115
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 3:70,809,649...70,935,391
Ensembl chr 3:70,810,048...70,935,860
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 chr13:37,324,090...37,332,421
Ensembl chr13:37,325,548...37,336,834
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14631
    Stomatognathic Diseases 1074
      tooth disease 277
        Tooth Abnormalities 144
          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 1
          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 + 35
          anterior segment dysgenesis 4 1
          autosomal dominant congenital deafness with onychodystrophy 1
          blepharocheilodontic syndrome + 2
          dental enamel hypoplasia + 59
          dentin dysplasia + 2
          dentinogenesis imperfecta + 10
          oculodentodigital dysplasia + 2
          temtamy preaxial brachydactyly syndrome 1
          tooth agenesis + 18
Path 2
Term Annotations click to browse term
  disease 14631
    disease of anatomical entity 14316
      nervous system disease 12142
        sensory system disease 6027
          mouth disease 766
            tooth disease 277
              Tooth Abnormalities 144
                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 1
                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 + 35
                anterior segment dysgenesis 4 1
                autosomal dominant congenital deafness with onychodystrophy 1
                blepharocheilodontic syndrome + 2
                dental enamel hypoplasia + 59
                dentin dysplasia + 2
                dentinogenesis imperfecta + 10
                oculodentodigital dysplasia + 2
                temtamy preaxial brachydactyly syndrome 1
                tooth agenesis + 18
paths to the root