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HUMAN PHENOTYPE - ANNOTATIONS

The Human Phenotype Ontology (HPO) is downloaded weekly from http://compbio.charite.de/hudson/job/hpo/lastStableBuild/artifact/ontology/release/hp.obo. The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at http://www.human-phenotype-ontology.org/.

Term:Abnormal number of teeth
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Accession:HP:0006483 term browser browse the term
Definition:The presence of an altered number of of teeth.
Comment:Humans usually have 20 primary teeth (also called deciduous teeth) and 32 permanent teeth. This term comprises anomalies with too many or too few teeth.
Synonyms:exact_synonym: Abnormal complement of teeth;   Abnormal tooth count
 xref: SNOMEDCT_US:335443002;   UMLS:C1290508



show annotations for term's descendants           Sort by:
Abnormal number of permanent teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Agenesis of canine term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
Agenesis of central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NEK1 NIMA related kinase 1 IAGP HPO MIM:252100 ORPHA:2751 NCBI chr 4:169,392,809...169,612,583
Ensembl chr 4:169,369,704...169,612,632
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of first permanent molar tooth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CDC42BPB CDC42 binding protein kinase beta IAGP HPO MIM:619841 NCBI chr14:102,932,380...103,057,549
Ensembl chr14:102,932,380...103,057,549
JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G DLX3 distal-less homeobox 3 IAGP HPO ORPHA:3352 NCBI chr17:49,990,005...49,995,224
Ensembl chr17:49,990,005...49,995,224
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
Agenesis of lateral incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ARHGAP29 Rho GTPase activating protein 29 IAGP HPO ORPHA:199306 NCBI chr 1:94,168,905...94,314,592
Ensembl chr 1:94,148,988...94,275,068
JBrowse link
G ARHGEF38 Rho guanine nucleotide exchange factor 38 IAGP HPO ORPHA:199306 NCBI chr 4:105,552,620...105,682,566
Ensembl chr 4:105,552,620...105,708,093
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP HPO ORPHA:199306 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CDH1 cadherin 1 IAGP HPO ORPHA:199306 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G COBLL1 cordon-bleu WH2 repeat protein like 1 IAGP HPO ORPHA:199306 NCBI chr 2:164,657,931...164,842,076
Ensembl chr 2:164,653,624...164,843,679
JBrowse link
G DLG1 discs large MAGUK scaffold protein 1 IAGP HPO ORPHA:199306 NCBI chr 3:197,042,560...197,299,321
Ensembl chr 3:197,042,560...197,299,330
JBrowse link
G DLX4 distal-less homeobox 4 IAGP HPO MIM:616788 ORPHA:199306 NCBI chr17:49,968,572...49,974,959
Ensembl chr17:49,968,588...49,974,959
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199306 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199306 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199306 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PDGFRA platelet derived growth factor receptor alpha IAGP HPO ORPHA:199306 NCBI chr 4:54,229,293...54,298,245
Ensembl chr 4:54,229,280...54,298,245
JBrowse link
G RIC1 RIC1 homolog, RAB6A GEF complex partner 1 IAGP HPO ORPHA:199306 NCBI chr 9:5,629,107...5,778,633
Ensembl chr 9:5,629,025...5,776,557
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199306 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Agenesis of mandibular central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EIF4A3 eukaryotic translation initiation factor 4A3 IAGP HPO MIM:268305 NCBI chr17:80,134,369...80,147,128
Ensembl chr17:80,134,369...80,147,151
JBrowse link
Agenesis of mandibular lateral incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G OFD1 OFD1 centriole and centriolar satellite protein IAGP DNA:deletion:exon:c.2183delG (human) RGD PMID:21729220 RGD:11535960 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
Agenesis of mandibular premolar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of maxillary incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAMTS15 ADAM metallopeptidase with thrombospondin type 1 motif 15 IAGP HPO MIM:620545 NCBI chr11:130,448,645...130,476,645
Ensembl chr11:130,448,645...130,476,645
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
Agenesis of maxillary lateral incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G B3GLCT beta 3-glucosyltransferase IAGP HPO MIM:261540 NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:309800 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G BLM BLM RecQ like helicase IAGP HPO MIM:210900 NCBI chr15:90,717,346...90,816,166
Ensembl chr15:90,717,346...90,816,166
JBrowse link
G EDA ectodysplasin A IAGP HPO ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G ERCC3 ERCC excision repair 3, TFIIH core complex helicase subunit IAGP HPO MIM:616390 NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MYO15A myosin XVA IAGP ClinVar Annotator: match by term: Missing upper lateral incisor ClinVar PMID:24033266 PMID:25741868 PMID:26445815 PMID:27375115 PMID:28492532 NCBI chr17:18,108,756...18,179,800
Ensembl chr17:18,108,756...18,179,802
JBrowse link
G NAA10 N-alpha-acetyltransferase 10, NatA catalytic subunit IAGP HPO MIM:309800 NCBI chr  X:153,929,225...153,935,037
Ensembl chr  X:153,929,225...153,935,080
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PGAP3 post-GPI attachment to proteins phospholipase 3 IAGP ClinVar Annotator: match by term: Missing upper lateral incisor ClinVar PMID:25741868 PMID:30345601 NCBI chr17:39,671,122...39,688,057
Ensembl chr17:39,671,122...39,696,797
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Agenesis of molar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
Agenesis of permanent molar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX9 paired box 9 IAGP HPO MIM:604625 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
Agenesis of permanent teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G C1R complement C1r IAGP HPO ORPHA:75392 NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
JBrowse link
G C1S complement C1s IAGP HPO ORPHA:75392 NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
JBrowse link
G CREBBP CREB binding protein IAGP HPO MIM:618332 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO MIM:616894 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO MIM:618333 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G GNB2 G protein subunit beta 2 IAGP HPO MIM:619503 NCBI chr 7:100,673,740...100,679,169
Ensembl chr 7:100,673,567...100,679,174
JBrowse link
G KCTD1 potassium channel tetramerization domain containing 1 IAGP HPO MIM:181270 NCBI chr18:26,454,910...26,657,473
Ensembl chr18:26,454,910...26,657,401
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO MIM:616724 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MESD mesoderm development LRP chaperone IAGP HPO MIM:618644 NCBI chr15:80,946,289...80,989,819
Ensembl chr15:80,946,289...80,989,828
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO MIM:189500 ORPHA:2228 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G RAB23 RAB23, member RAS oncogene family IAGP HPO MIM:201000 NCBI chr 6:57,186,992...57,222,307
Ensembl chr 6:57,186,992...57,222,307
JBrowse link
G RAD51 RAD51 recombinase IAGP HPO MIM:617244 NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G RIPK4 receptor interacting serine/threonine kinase 4 IAGP HPO ORPHA:1401 NCBI chr21:41,739,373...41,767,052
Ensembl chr21:41,739,369...41,767,089
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO ORPHA:251028 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SBDS SBDS ribosome maturation factor IAGP ClinVar Annotator: match by term: Agenesis of permanent teeth ClinVar PMID:12496757 PMID:14749921 PMID:15284109 PMID:15769891 PMID:15860664 More... NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
JBrowse link
G TFAP2B transcription factor AP-2 beta IAGP HPO ORPHA:46627 NCBI chr 6:50,818,355...50,847,619
Ensembl chr 6:50,818,723...50,847,619
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO MIM:243800 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO MIM:614091 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:150400 MIM:257980 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
Agenesis of premolar term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AXIN2 axin 2 IAGP HPO ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:2791 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP HPO ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G PAX9 paired box 9 IAGP HPO ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Anodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G DCAF17 DDB1 and CUL4 associated factor 17 IAGP HPO MIM:241080 NCBI chr 2:171,434,226...171,485,052
Ensembl chr 2:171,434,217...171,485,052
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDAR ectodysplasin A receptor IAGP HPO MIM:129490 MIM:224900 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO MIM:129490 MIM:224900 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G ERCC1 ERCC excision repair 1, endonuclease non-catalytic subunit IAGP HPO ORPHA:90322 NCBI chr19:45,407,334...45,451,547
Ensembl chr19:45,407,334...45,478,828
JBrowse link
G ERCC4 ERCC excision repair 4, endonuclease catalytic subunit IAGP HPO ORPHA:90321 NCBI chr16:13,920,154...13,952,348
Ensembl chr16:13,920,138...13,952,348
JBrowse link
G ERCC6 ERCC excision repair 6, chromatin remodeling factor IAGP HPO ORPHA:90321 ORPHA:90322 NCBI chr10:49,434,881...49,539,538
Ensembl chr10:49,454,168...49,539,538
JBrowse link
G ERCC8 ERCC excision repair 8, CSA ubiquitin ligase complex subunit IAGP HPO ORPHA:90321 ORPHA:90322 NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G GBA1 glucosylceramidase beta 1 IAGP HPO ORPHA:77261 NCBI chr 1:155,234,452...155,244,627
Ensembl chr 1:155,234,452...155,244,699
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO MIM:606713 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO MIM:225060 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G PIGA phosphatidylinositol glycan anchor biosynthesis class A IAGP HPO MIM:300868 NCBI chr  X:15,319,451...15,335,554
Ensembl chr  X:15,319,452...15,335,554
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:276630 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Hypodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AARS1 alanyl-tRNA synthetase 1 IAGP HPO ORPHA:442835 NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
JBrowse link
G ACOX1 acyl-CoA oxidase 1 IAGP HPO ORPHA:2971 NCBI chr17:75,941,507...75,979,166
Ensembl chr17:75,941,507...75,979,177
JBrowse link
G ACTL6B actin like 6B IAGP HPO ORPHA:442835 NCBI chr 7:100,643,097...100,656,448
Ensembl chr 7:100,643,097...100,656,448
JBrowse link
G ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif 2 IAGP HPO MIM:225410 NCBI chr 5:179,110,853...179,345,461
Ensembl chr 5:179,110,853...179,345,461
JBrowse link
G AP3B2 adaptor related protein complex 3 subunit beta 2 IAGP HPO ORPHA:442835 NCBI chr15:82,659,281...82,709,875
Ensembl chr15:82,659,281...82,710,112
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO ORPHA:3258 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G APC2 APC regulator of WNT signaling pathway 2 IAGP HPO ORPHA:821 NCBI chr19:1,446,230...1,473,244
Ensembl chr19:1,446,302...1,473,244
JBrowse link
G ARL6 ARF like GTPase 6 IAGP HPO MIM:209900 ORPHA:110 NCBI chr 3:97,764,521...97,801,242
Ensembl chr 3:97,764,521...97,801,229
JBrowse link
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 IAGP HPO ORPHA:442835 NCBI chr 1:160,115,759...160,143,591
Ensembl chr 1:160,115,759...160,143,591
JBrowse link
G ATP1A3 ATPase Na+/K+ transporting subunit alpha 3 IAGP HPO ORPHA:442835 NCBI chr19:41,966,582...41,994,230
Ensembl chr19:41,966,582...41,997,497
JBrowse link
G ATP6V1A ATPase H+ transporting V1 subunit A IAGP HPO ORPHA:442835 NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G BAZ1B bromodomain adjacent to zinc finger domain 1B IAGP HPO ORPHA:904 NCBI chr 7:73,440,406...73,522,293
Ensembl chr 7:73,440,406...73,522,293
JBrowse link
G BBIP1 BBSome interacting protein 1 IAGP HPO ORPHA:110 NCBI chr10:110,898,730...110,919,366
Ensembl chr10:110,898,730...110,919,201
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP HPO MIM:209900 ORPHA:110 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613
JBrowse link
G BBS10 Bardet-Biedl syndrome 10 IAGP HPO ORPHA:110 NCBI chr12:76,344,474...76,348,415
Ensembl chr12:76,344,474...76,348,415
JBrowse link
G BBS12 Bardet-Biedl syndrome 12 IAGP HPO ORPHA:110 NCBI chr 4:122,700,442...122,744,939
Ensembl chr 4:122,732,702...122,744,942
JBrowse link
G BBS2 Bardet-Biedl syndrome 2 IAGP HPO ORPHA:110 NCBI chr16:56,470,403...56,520,024
Ensembl chr16:56,465,640...56,582,667
JBrowse link
G BBS4 Bardet-Biedl syndrome 4 IAGP HPO ORPHA:110 NCBI chr15:72,686,207...72,738,473
Ensembl chr15:72,686,186...72,742,006
JBrowse link
G BBS5 Bardet-Biedl syndrome 5 IAGP HPO MIM:615983 ORPHA:110 NCBI chr 2:169,479,494...169,506,655
Ensembl chr 2:169,479,480...169,506,655
JBrowse link
G BBS7 Bardet-Biedl syndrome 7 IAGP HPO ORPHA:110 NCBI chr 4:121,824,329...121,870,474
Ensembl chr 4:121,824,329...121,870,487
JBrowse link
G BBS9 Bardet-Biedl syndrome 9 IAGP HPO ORPHA:110 NCBI chr 7:33,129,285...33,635,767
Ensembl chr 7:33,109,557...33,877,180
JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
JBrowse link
G BUD23 BUD23 rRNA methyltransferase and ribosome maturation factor IAGP HPO ORPHA:904 NCBI chr 7:73,683,597...73,698,212
Ensembl chr 7:73,683,597...73,698,212
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP HPO ORPHA:442835 NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489
JBrowse link
G CACNA1B calcium voltage-gated channel subunit alpha1 B IAGP HPO ORPHA:442835 NCBI chr 9:137,877,782...138,124,619
Ensembl chr 9:137,877,782...138,124,624
JBrowse link
G CACNA2D1 calcium voltage-gated channel auxiliary subunit alpha2delta 1 IAGP HPO ORPHA:442835 NCBI chr 7:81,946,444...82,443,956
Ensembl chr 7:81,946,444...82,443,956
JBrowse link
G CCDC28B coiled-coil domain containing 28B IAGP HPO MIM:209900 NCBI chr 1:32,196,011...32,205,387
Ensembl chr 1:32,200,595...32,205,453
JBrowse link
G CDH1 cadherin 1 IAGP HPO MIM:119580 NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
JBrowse link
G CDK19 cyclin dependent kinase 19 IAGP HPO ORPHA:442835 NCBI chr 6:110,609,978...110,815,855
Ensembl chr 6:110,609,978...110,815,958
JBrowse link
G CELF2 CUGBP Elav-like family member 2 IAGP HPO ORPHA:442835 NCBI chr10:10,462,550...11,336,675
Ensembl chr10:10,798,397...11,336,675
JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CEP19 centrosomal protein 19 IAGP HPO ORPHA:110 NCBI chr 3:196,706,277...196,712,250
Ensembl chr 3:196,706,277...196,712,250
JBrowse link
G CEP290 centrosomal protein 290 IAGP HPO ORPHA:110 NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
JBrowse link
G CEP85L centrosomal protein 85 like IAGP HPO MIM:618873 NCBI chr 6:118,460,772...118,710,089
Ensembl chr 6:118,460,772...118,710,075
JBrowse link
G CFAP418 cilia and flagella associated protein 418 IAGP HPO MIM:617406 ORPHA:110 NCBI chr 8:95,244,913...95,269,201
Ensembl chr 8:95,244,913...95,269,201
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G CKAP2L cytoskeleton associated protein 2 like IAGP HPO MIM:272440 NCBI chr 2:112,736,349...112,764,609
Ensembl chr 2:112,736,349...112,764,664
JBrowse link
G CLDN1 claudin 1 IAGP HPO MIM:607626 ORPHA:59303 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G CLIP2 CAP-Gly domain containing linker protein 2 IAGP HPO ORPHA:904 NCBI chr 7:74,289,407...74,405,935
Ensembl chr 7:74,289,407...74,405,935
JBrowse link
G CLTC clathrin heavy chain IAGP HPO ORPHA:442835 NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
JBrowse link
G CNKSR2 connector enhancer of kinase suppressor of Ras 2 IAGP HPO ORPHA:442835 NCBI chr  X:21,374,418...21,654,689
Ensembl chr  X:21,372,801...21,654,695
JBrowse link
G CPLX1 complexin 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G CTBP1 C-terminal binding protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,211,445...1,250,355
Ensembl chr 4:1,211,445...1,250,333
JBrowse link
G CTC1 CST telomere replication complex component 1 IAGP HPO ORPHA:1775 NCBI chr17:8,224,815...8,248,056
Ensembl chr17:8,224,815...8,248,058
JBrowse link
G CTSK cathepsin K IAGP HPO MIM:265800 ORPHA:763 NCBI chr 1:150,796,208...150,808,260
Ensembl chr 1:150,794,880...150,809,577
JBrowse link
G CYFIP2 cytoplasmic FMR1 interacting protein 2 IAGP HPO ORPHA:442835 NCBI chr 5:157,266,123...157,395,594
Ensembl chr 5:157,266,079...157,395,595
JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP HPO ORPHA:442835 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO MIM:174300 ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G DHDDS dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 1:26,432,321...26,471,306
Ensembl chr 1:26,432,282...26,471,306
JBrowse link
G DKC1 dyskerin pseudouridine synthase 1 IAGP HPO ORPHA:1775 NCBI chr  X:154,762,864...154,777,689
Ensembl chr  X:154,762,742...154,777,689
JBrowse link
G DNAJC21 DnaJ heat shock protein family (Hsp40) member C21 IAGP HPO MIM:617052 NCBI chr 5:34,929,559...34,958,964
Ensembl chr 5:34,929,559...34,958,964
JBrowse link
G DNAJC30 DnaJ heat shock protein family (Hsp40) member C30 IAGP HPO ORPHA:904 NCBI chr 7:73,680,918...73,683,453
Ensembl chr 7:73,680,918...73,683,453
JBrowse link
G DNM1 dynamin 1 IAGP HPO ORPHA:442835 NCBI chr 9:128,203,379...128,255,244
Ensembl chr 9:128,191,655...128,255,248
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:617088 ORPHA:289 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G EDA ectodysplasin A IAGP ClinVar Annotator: match by term: Hypodontia ClinVar
HPO
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... MIM:305100 MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ClinVar Annotator: match by term: Hypodontia ClinVar PMID:25741868 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G EDAR ectodysplasin A receptor IAGP HPO MIM:129490 MIM:224900 ORPHA:1810 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO MIM:129490 MIM:224900 MIM:614940 MIM:614941 ORPHA:1810 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G EEF1A2 eukaryotic translation elongation factor 1 alpha 2 IAGP HPO ORPHA:442835 NCBI chr20:63,488,014...63,499,083
Ensembl chr20:63,488,013...63,499,239
JBrowse link
G EIF4H eukaryotic translation initiation factor 4H IAGP HPO ORPHA:904 NCBI chr 7:74,174,356...74,197,096
Ensembl chr 7:74,174,231...74,197,122
JBrowse link
G ELN elastin IAGP HPO MIM:194050 ORPHA:904 NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM:225500 ORPHA:289 ORPHA:952 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO MIM:225500 ORPHA:289 ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FBXO28 F-box protein 28 IAGP HPO ORPHA:442835 NCBI chr 1:224,114,111...224,162,047
Ensembl chr 1:224,114,111...224,162,047
JBrowse link
G FGD1 FYVE, RhoGEF and PH domain containing 1 IAGP HPO MIM:305400 NCBI chr  X:54,445,454...54,496,234
Ensembl chr  X:54,445,454...54,496,234
JBrowse link
G FGF10 fibroblast growth factor 10 IAGP HPO ORPHA:2363 NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
JBrowse link
G FGF12 fibroblast growth factor 12 IAGP HPO ORPHA:442835 NCBI chr 3:192,139,390...192,727,541
Ensembl chr 3:192,139,390...192,767,764
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:90024 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO MIM:149730 ORPHA:2363 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FGFR3 fibroblast growth factor receptor 3 IAGP HPO MIM:620192 ORPHA:2363 NCBI chr 4:1,793,293...1,808,867
Ensembl chr 4:1,793,293...1,808,872
JBrowse link
G FGFRL1 fibroblast growth factor receptor like 1 IAGP HPO MIM:194190 NCBI chr 4:1,010,212...1,026,898
Ensembl chr 4:1,009,936...1,026,898
JBrowse link
G FKBP6 FKBP prolyl isomerase family member 6 (inactive) IAGP HPO ORPHA:904 NCBI chr 7:73,328,161...73,358,625
Ensembl chr 7:73,328,161...73,358,637
JBrowse link
G FLNB filamin B IAGP HPO MIM:150250 NCBI chr 3:58,008,422...58,172,251
Ensembl chr 3:58,008,398...58,172,251
JBrowse link
G FOSL2 FOS like 2, AP-1 transcription factor subunit IAGP HPO MIM:620789 NCBI chr 2:28,392,858...28,417,317
Ensembl chr 2:28,392,448...28,417,317
JBrowse link
G FOXC1 forkhead box C1 IAGP HPO MIM:602482 ORPHA:782 NCBI chr 6:1,609,915...1,613,897
Ensembl chr 6:1,609,915...1,613,897
JBrowse link
G FOXG1 forkhead box G1 IAGP HPO ORPHA:442835 NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G FZR1 fizzy and cell division cycle 20 related 1 IAGP HPO ORPHA:442835 NCBI chr19:3,506,311...3,538,334
Ensembl chr19:3,506,311...3,538,334
JBrowse link
G GABBR2 gamma-aminobutyric acid type B receptor subunit 2 IAGP HPO ORPHA:442835 NCBI chr 9:98,288,109...98,708,935
Ensembl chr 9:98,288,109...98,708,935
JBrowse link
G GABRA2 gamma-aminobutyric acid type A receptor subunit alpha2 IAGP HPO ORPHA:442835 NCBI chr 4:46,243,548...46,390,300
Ensembl chr 4:46,243,548...46,475,230
JBrowse link
G GABRA5 gamma-aminobutyric acid type A receptor subunit alpha5 IAGP HPO ORPHA:442835 NCBI chr15:26,866,719...26,949,208
Ensembl chr15:26,866,911...26,949,208
JBrowse link
G GABRB2 gamma-aminobutyric acid type A receptor subunit beta2 IAGP HPO ORPHA:442835 NCBI chr 5:161,288,436...161,548,404
Ensembl chr 5:161,288,429...161,549,044
JBrowse link
G GABRG2 gamma-aminobutyric acid type A receptor subunit gamma2 IAGP HPO ORPHA:442835 NCBI chr 5:162,067,465...162,155,539
Ensembl chr 5:162,000,057...162,162,977
JBrowse link
G GDF5 growth differentiation factor 5 IAGP HPO ORPHA:63442 NCBI chr20:35,433,347...35,454,749
Ensembl chr20:35,433,347...35,454,746
JBrowse link
G GLI1 GLI family zinc finger 1 IAGP HPO ORPHA:289 NCBI chr12:57,459,785...57,472,268
Ensembl chr12:57,459,785...57,472,268
JBrowse link
G GRHL2 grainyhead like transcription factor 2 IAGP HPO MIM:616029 NCBI chr 8:101,492,439...101,681,200
Ensembl chr 8:101,492,439...101,669,726
JBrowse link
G GRHL3 grainyhead like transcription factor 3 IAGP HPO MIM:606713 ORPHA:888 NCBI chr 1:24,319,357...24,364,482
Ensembl chr 1:24,199,558...24,364,482
JBrowse link
G GRIN2D glutamate ionotropic receptor NMDA type subunit 2D IAGP HPO ORPHA:442835 NCBI chr19:48,393,668...48,444,931
Ensembl chr19:48,393,668...48,444,931
JBrowse link
G GTF2I general transcription factor IIi IAGP HPO ORPHA:904 NCBI chr 7:74,657,718...74,760,692
Ensembl chr 7:74,650,231...74,760,692
JBrowse link
G GTF2IRD1 GTF2I repeat domain containing 1 IAGP HPO ORPHA:904 NCBI chr 7:74,453,906...74,602,605
Ensembl chr 7:74,453,790...74,602,605
JBrowse link
G GTF2IRD2 GTF2I repeat domain containing 2 IAGP HPO ORPHA:904 NCBI chr 7:74,796,151...74,851,605
Ensembl chr 7:74,796,151...74,851,605
JBrowse link
G HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 IAGP HPO ORPHA:442835 NCBI chr 5:45,254,948...45,696,380
Ensembl chr 5:45,254,948...45,696,498
JBrowse link
G HECTD4 HECT domain E3 ubiquitin protein ligase 4 IAGP HPO MIM:620250 NCBI chr12:112,160,195...112,382,431
Ensembl chr12:112,160,188...112,382,439
JBrowse link
G HMGA2 high mobility group AT-hook 2 IAGP HPO ORPHA:94063 NCBI chr12:65,824,460...65,966,291
Ensembl chr12:65,824,460...65,966,291
JBrowse link
G HSPA9 heat shock protein family A (Hsp70) member 9 IAGP HPO MIM:616854 NCBI chr 5:138,553,756...138,575,401
Ensembl chr 5:138,553,756...138,575,675
JBrowse link
G IFT122 intraflagellar transport 122 IAGP HPO MIM:218330 ORPHA:1515 NCBI chr 3:129,440,224...129,520,507
Ensembl chr 3:129,429,607...129,520,510
JBrowse link
G IFT172 intraflagellar transport 172 IAGP HPO ORPHA:110 NCBI chr 2:27,444,377...27,489,743
Ensembl chr 2:27,444,377...27,489,805
JBrowse link
G IFT27 intraflagellar transport 27 IAGP HPO ORPHA:110 NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
JBrowse link
G IFT43 intraflagellar transport 43 IAGP HPO ORPHA:1515 NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
JBrowse link
G IFT52 intraflagellar transport 52 IAGP HPO ORPHA:1515 NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
JBrowse link
G IFT74 intraflagellar transport 74 IAGP HPO ORPHA:110 NCBI chr 9:26,947,110...27,066,134
Ensembl chr 9:26,947,039...27,066,134
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:300636 MIM:308300 ORPHA:464 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO MIM:119300 ORPHA:141291 ORPHA:199302 ORPHA:888 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G IRX5 iroquois homeobox 5 IAGP HPO MIM:611174 NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Hypodontia ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 More... NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G KCNA2 potassium voltage-gated channel subfamily A member 2 IAGP HPO ORPHA:442835 NCBI chr 1:110,593,580...110,631,440
Ensembl chr 1:110,519,837...110,631,474
JBrowse link
G KCNB1 potassium voltage-gated channel subfamily B member 1 IAGP HPO ORPHA:442835 NCBI chr20:49,363,877...49,483,362
Ensembl chr20:49,293,394...49,484,297
JBrowse link
G KCNC2 potassium voltage-gated channel subfamily C member 2 IAGP HPO ORPHA:442835 NCBI chr12:75,040,078...75,209,839
Ensembl chr12:75,040,077...75,209,839
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP ClinVar Annotator: match by term: Hypodontia ClinVar
HPO
PMID:25741868 ORPHA:1810 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:300867 ORPHA:2322 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIF1C kinesin family member 1C IAGP HPO ORPHA:397946 NCBI chr17:4,997,950...5,028,401
Ensembl chr17:4,997,950...5,028,401
JBrowse link
G KMT2A lysine methyltransferase 2A IAGP HPO MIM:605130 NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO ORPHA:2322 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G LAMB3 laminin subunit beta 3 IAGP HPO MIM:226650 NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP HPO MIM:619322 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130
JBrowse link
G LEMD3 LEM domain containing 3 IAGP HPO ORPHA:94063 NCBI chr12:65,169,583...65,248,355
Ensembl chr12:65,169,583...65,248,355
JBrowse link
G LETM1 leucine zipper and EF-hand containing transmembrane protein 1 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,811,479...1,856,156
Ensembl chr 4:1,811,479...1,856,156
JBrowse link
G LIMK1 LIM domain kinase 1 IAGP HPO ORPHA:904 NCBI chr 7:74,083,804...74,122,525
Ensembl chr 7:74,082,933...74,122,525
JBrowse link
G LMNA lamin A/C IAGP HPO ORPHA:740 NCBI chr 1:156,082,573...156,140,081
Ensembl chr 1:156,082,572...156,140,081
JBrowse link
G LRP4 LDL receptor related protein 4 IAGP HPO MIM:212780 ORPHA:3258 NCBI chr11:46,856,717...46,918,550
Ensembl chr11:46,856,717...46,918,642
JBrowse link
G LZTFL1 leucine zipper transcription factor like 1 IAGP HPO ORPHA:110 NCBI chr 3:45,823,316...45,915,724
Ensembl chr 3:45,823,316...45,916,042
JBrowse link
G MAPK8IP3 mitogen-activated protein kinase 8 interacting protein 3 IAGP HPO MIM:618443 NCBI chr16:1,706,195...1,770,351
Ensembl chr16:1,706,166...1,770,351
JBrowse link
G MBTPS2 membrane bound transcription factor peptidase, site 2 IAGP HPO ORPHA:659 NCBI chr  X:21,839,617...21,885,423
Ensembl chr  X:21,839,617...21,885,423
JBrowse link
G METTL27 methyltransferase like 27 IAGP HPO ORPHA:904 NCBI chr 7:73,834,590...73,842,516
Ensembl chr 7:73,834,590...73,842,516
JBrowse link
G MID1 midline 1 IAGP HPO ORPHA:2745 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G MKKS MKKS centrosomal shuttling protein IAGP HPO ORPHA:110 NCBI chr20:10,401,009...10,434,222
Ensembl chr20:10,401,009...10,434,222
JBrowse link
G MKS1 MKS transition zone complex subunit 1 IAGP HPO ORPHA:110 NCBI chr17:58,205,441...58,219,255
Ensembl chr17:58,205,441...58,219,605
JBrowse link
G MLXIPL MLX interacting protein like IAGP HPO MIM:194050 NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO MIM:106600 ORPHA:141291 ORPHA:199302 ORPHA:2228 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G MTX2 metaxin 2 IAGP HPO MIM:619127 NCBI chr 2:176,269,442...176,338,025
Ensembl chr 2:176,269,395...176,338,025
JBrowse link
G NCF1 neutrophil cytosolic factor 1 IAGP HPO ORPHA:904 NCBI chr 7:74,774,011...74,789,315
Ensembl chr 7:74,774,011...74,789,315
JBrowse link
G NECAP1 NECAP endocytosis associated 1 IAGP HPO ORPHA:442835 NCBI chr12:8,082,274...8,097,881
Ensembl chr12:8,076,939...8,097,881
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO MIM:225060 ORPHA:141291 ORPHA:199302 ORPHA:3253 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NELFA negative elongation factor complex member A IAGP HPO ORPHA:280 NCBI chr 4:1,982,723...2,008,974
Ensembl chr 4:1,982,717...2,041,903
JBrowse link
G NFKBIA NFKB inhibitor alpha IAGP HPO MIM:612132 NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
JBrowse link
G NHP2 NHP2 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
JBrowse link
G NKX2-1 NK2 homeobox 1 IAGP HPO ORPHA:209905 NCBI chr14:36,516,397...36,520,232
Ensembl chr14:36,516,392...36,521,149
JBrowse link
G NKX6-2 NK6 homeobox 2 IAGP HPO MIM:617560 NCBI chr10:132,783,181...132,786,147
Ensembl chr10:132,783,179...132,786,147
JBrowse link
G NOP10 NOP10 ribonucleoprotein IAGP HPO ORPHA:1775 NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
JBrowse link
G NPHP1 nephrocystin 1 IAGP HPO ORPHA:110 NCBI chr 2:110,123,348...110,205,013
Ensembl chr 2:110,122,311...110,205,066
JBrowse link
G NPM1 nucleophosmin 1 IAGP HPO ORPHA:1775 NCBI chr 5:171,387,116...171,410,900
Ensembl chr 5:171,387,116...171,411,810
JBrowse link
G NSD1 nuclear receptor binding SET domain protein 1 IAGP HPO ORPHA:821 NCBI chr 5:177,131,798...177,300,213
Ensembl chr 5:177,131,830...177,300,213
JBrowse link
G NSD2 nuclear receptor binding SET domain protein 2 IAGP HPO MIM:194190 ORPHA:280 NCBI chr 4:1,871,393...1,982,192
Ensembl chr 4:1,871,393...1,982,207
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 IAGP HPO ORPHA:442835 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit IAGP HPO ORPHA:442835 NCBI chr 6:117,675,469...117,710,727
Ensembl chr 6:117,675,469...117,710,727
JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO ORPHA:2750 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G OTUD5 OTU deubiquitinase 5 IAGP HPO MIM:301056 NCBI chr  X:48,922,024...48,958,381
Ensembl chr  X:48,922,024...48,958,386
JBrowse link
G PACS2 phosphofurin acidic cluster sorting protein 2 IAGP HPO ORPHA:442835 NCBI chr14:105,300,774...105,398,147
Ensembl chr14:105,300,563...105,398,147
JBrowse link
G PARN poly(A)-specific ribonuclease IAGP HPO ORPHA:1775 NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
JBrowse link
G PARS2 prolyl-tRNA synthetase 2, mitochondrial IAGP HPO ORPHA:442835 NCBI chr 1:54,756,898...54,764,523
Ensembl chr 1:54,756,898...54,764,523
JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Missing between one and six teeth
ClinVar Annotator: match by term: Hypodontia
ClinVar PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More... NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PERP p53 apoptosis effector related to PMP22 IAGP HPO ORPHA:659 NCBI chr 6:138,088,505...138,107,419
Ensembl chr 6:138,088,505...138,107,419
JBrowse link
G PIGG phosphatidylinositol glycan anchor biosynthesis class G (EMM blood group) IAGP HPO ORPHA:280 NCBI chr 4:499,210...540,200
Ensembl chr 4:499,210...540,200
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G PIK3R1 phosphoinositide-3-kinase regulatory subunit 1 IAGP HPO MIM:269880 NCBI chr 5:68,215,756...68,301,821
Ensembl chr 5:68,215,740...68,301,821
JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:180500 ORPHA:782 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G POLR1A RNA polymerase I subunit A IAGP HPO MIM:616462 NCBI chr 2:86,020,216...86,105,886
Ensembl chr 2:86,020,216...86,106,155
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:88637 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:264090 MIM:607694 ORPHA:3455 ORPHA:447896 ORPHA:88637 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 ORPHA:88637 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G POLR3K RNA polymerase III subunit K IAGP HPO MIM:619310 NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608
JBrowse link
G POP1 POP1 homolog, ribonuclease P/MRP subunit IAGP HPO MIM:617396 NCBI chr 8:98,117,293...98,159,835
Ensembl chr 8:98,117,293...98,159,835
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PPP2R3C protein phosphatase 2 regulatory subunit B''gamma IAGP HPO MIM:618419 NCBI chr14:35,085,472...35,122,298
Ensembl chr14:35,085,467...35,122,517
JBrowse link
G PPP3CA protein phosphatase 3 catalytic subunit alpha IAGP HPO ORPHA:442835 NCBI chr 4:101,023,418...101,347,526
Ensembl chr 4:101,023,409...101,348,278
JBrowse link
G PRKACA protein kinase cAMP-activated catalytic subunit alpha IAGP HPO ORPHA:289 NCBI chr19:14,091,688...14,117,762
Ensembl chr19:14,091,688...14,118,084
JBrowse link
G PRKACB protein kinase cAMP-activated catalytic subunit beta IAGP HPO MIM:619143 ORPHA:289 NCBI chr 1:84,078,079...84,238,498
Ensembl chr 1:84,078,062...84,238,498
JBrowse link
G PRKAR1A protein kinase cAMP-dependent type I regulatory subunit alpha IAGP HPO MIM:101800 NCBI chr17:68,413,623...68,551,316
Ensembl chr17:68,511,780...68,551,319
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:125350 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PUS7 pseudouridine synthase 7 IAGP HPO MIM:618342 NCBI chr 7:105,456,501...105,522,271
Ensembl chr 7:105,439,661...105,522,271
JBrowse link
G RBM28 RNA binding motif protein 28 IAGP HPO MIM:612079 ORPHA:157954 NCBI chr 7:128,297,685...128,343,908
Ensembl chr 7:128,297,685...128,343,908
JBrowse link
G RFC2 replication factor C subunit 2 IAGP HPO ORPHA:904 NCBI chr 7:74,231,502...74,254,399
Ensembl chr 7:74,231,499...74,254,458
JBrowse link
G RMRP RNA component of mitochondrial RNA processing endoribonuclease IAGP HPO MIM:607095 NCBI chr 9:35,657,750...35,658,019
Ensembl chr 9:35,657,754...35,658,017
JBrowse link
G RNF13 ring finger protein 13 IAGP HPO ORPHA:544503 NCBI chr 3:149,812,688...149,962,139
Ensembl chr 3:149,812,770...149,962,139
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO MIM:303600 ORPHA:192 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G RTEL1 regulator of telomere elongation helicase 1 IAGP HPO ORPHA:1775 NCBI chr20:63,657,810...63,696,253
Ensembl chr20:63,657,810...63,696,253
JBrowse link
G SCAPER S-phase cyclin A associated protein in the ER IAGP HPO ORPHA:110 NCBI chr15:76,347,904...76,905,340
Ensembl chr15:76,347,904...76,905,444
JBrowse link
G SCLT1 sodium channel and clathrin linker 1 IAGP HPO ORPHA:110 NCBI chr 4:128,873,241...129,093,539
Ensembl chr 4:128,864,921...129,093,600
JBrowse link
G SCN1A sodium voltage-gated channel alpha subunit 1 IAGP HPO ORPHA:442835 NCBI chr 2:165,984,641...166,149,161
Ensembl chr 2:165,984,641...166,182,806
JBrowse link
G SCN3A sodium voltage-gated channel alpha subunit 3 IAGP HPO ORPHA:442835 NCBI chr 2:165,087,526...165,204,050
Ensembl chr 2:165,087,526...165,204,050
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 IAGP HPO ORPHA:442835 NCBI chr12:51,591,233...51,812,864
Ensembl chr12:51,590,266...51,812,864
JBrowse link
G SCNM1 sodium channel modifier 1 IAGP HPO MIM:620107 NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO MIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
JBrowse link
G SDCCAG8 SHH signaling and ciliogenesis regulator SDCCAG8 IAGP HPO ORPHA:110 NCBI chr 1:243,256,041...243,500,091
Ensembl chr 1:243,256,034...243,500,091
JBrowse link
G SLC13A5 solute carrier family 13 member 5 IAGP HPO MIM:615905 ORPHA:442835 NCBI chr17:6,684,719...6,713,369
Ensembl chr17:6,684,719...6,713,377
JBrowse link
G SLC1A2 solute carrier family 1 member 2 IAGP HPO ORPHA:442835 NCBI chr11:35,251,205...35,420,507
Ensembl chr11:35,251,205...35,420,063
JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Hypodontia ClinVar PMID:11827258 PMID:28492532 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606
JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP HPO ORPHA:442835 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486
JBrowse link
G SLC39A13 solute carrier family 39 member 13 IAGP HPO MIM:612350 NCBI chr11:47,407,276...47,416,500
Ensembl chr11:47,407,132...47,416,496
JBrowse link
G SMARCAL1 SNF2 related chromatin remodeling annealing helicase 1 IAGP HPO ORPHA:1830 NCBI chr 2:216,412,484...216,483,053
Ensembl chr 2:216,412,383...216,483,053
JBrowse link
G SMG8 SMG8 nonsense mediated mRNA decay factor IAGP HPO MIM:619268 NCBI chr17:59,210,035...59,215,230
Ensembl chr17:59,209,400...59,215,239
JBrowse link
G STX1A syntaxin 1A IAGP HPO ORPHA:904 NCBI chr 7:73,699,210...73,719,669
Ensembl chr 7:73,699,206...73,719,672
JBrowse link
G SYNGAP1 synaptic Ras GTPase activating protein 1 IAGP HPO ORPHA:442835 NCBI chr 6:33,418,167...33,453,689
Ensembl chr 6:33,419,661...33,453,689
JBrowse link
G SYNJ1 synaptojanin 1 IAGP HPO ORPHA:442835 NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
JBrowse link
G SZT2 SZT2 subunit of KICSTOR complex IAGP HPO ORPHA:442835 NCBI chr 1:43,389,899...43,454,247
Ensembl chr 1:43,389,882...43,454,247
JBrowse link
G TBL2 transducin beta like 2 IAGP HPO ORPHA:904 NCBI chr 7:73,567,537...73,578,579
Ensembl chr 7:73,567,537...73,578,791
JBrowse link
G TBX3 T-box transcription factor 3 IAGP HPO MIM:181450 ORPHA:3138 NCBI chr12:114,670,255...114,684,175
Ensembl chr12:114,670,255...114,684,175
JBrowse link
G TERC telomerase RNA component IAGP HPO ORPHA:1775 NCBI chr 3:169,764,610...169,765,060
Ensembl chr 3:169,764,610...169,765,047
Ensembl chr 3:169,764,610...169,765,047
JBrowse link
G TERT telomerase reverse transcriptase IAGP HPO ORPHA:1775 NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
JBrowse link
G TINF2 TERF1 interacting nuclear factor 2 IAGP HPO ORPHA:1775 NCBI chr14:24,239,640...24,242,674
Ensembl chr14:24,238,286...24,242,663
JBrowse link
G TMEM270 transmembrane protein 270 IAGP HPO ORPHA:904 NCBI chr 7:73,860,848...73,865,890
Ensembl chr 7:73,861,159...73,865,890
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:103285 MIM:106260 MIM:129400 MIM:603543 ORPHA:141291 ORPHA:199302 ORPHA:69085 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAF6 TNF receptor associated factor 6 IAGP HPO ORPHA:1810 NCBI chr11:36,483,769...36,510,272
Ensembl chr11:36,483,769...36,510,272
JBrowse link
G TRAK1 trafficking kinesin protein 1 IAGP HPO ORPHA:442835 NCBI chr 3:42,013,093...42,225,890
Ensembl chr 3:42,013,624...42,225,890
JBrowse link
G TRIM32 tripartite motif containing 32 IAGP HPO ORPHA:110 NCBI chr 9:116,687,305...116,701,299
Ensembl chr 9:116,687,305...116,701,300
JBrowse link
G TRIM37 tripartite motif containing 37 IAGP HPO MIM:253250 NCBI chr17:58,967,201...59,106,880
Ensembl chr17:58,982,638...59,106,921
JBrowse link
G TRPV3 transient receptor potential cation channel subfamily V member 3 IAGP HPO ORPHA:659 NCBI chr17:3,510,502...3,557,812
Ensembl chr17:3,510,502...3,557,812
JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP HPO MIM:618180 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
JBrowse link
G TTC8 tetratricopeptide repeat domain 8 IAGP HPO ORPHA:110 NCBI chr14:88,824,153...88,881,079
Ensembl chr14:88,824,153...88,881,078
JBrowse link
G TWIST2 twist family bHLH transcription factor 2 IAGP HPO MIM:209885 NCBI chr 2:238,848,085...238,910,534
Ensembl chr 2:238,848,032...238,910,534
JBrowse link
G TYMS thymidylate synthetase IAGP HPO ORPHA:1775 NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
JBrowse link
G UBA5 ubiquitin like modifier activating enzyme 5 IAGP HPO ORPHA:442835 NCBI chr 3:132,654,430...132,679,794
Ensembl chr 3:132,654,446...132,679,794
JBrowse link
G UBE3C ubiquitin protein ligase E3C IAGP HPO MIM:620270 NCBI chr 7:157,138,926...157,269,370
Ensembl chr 7:157,138,926...157,269,370
JBrowse link
G USB1 U6 snRNA biogenesis phosphodiesterase 1 IAGP HPO ORPHA:1775 NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
JBrowse link
G VPS37D VPS37D subunit of ESCRT-I IAGP HPO ORPHA:904 NCBI chr 7:73,665,347...73,672,110
Ensembl chr 7:73,667,831...73,672,112
JBrowse link
G WDPCP WD repeat containing planar cell polarity effector IAGP HPO ORPHA:110 NCBI chr 2:63,119,559...63,840,826
Ensembl chr 2:63,119,559...63,827,843
JBrowse link
G WDR19 WD repeat domain 19 IAGP HPO ORPHA:1515 NCBI chr 4:39,182,529...39,285,810
Ensembl chr 4:39,182,504...39,285,810
JBrowse link
G WDR35 WD repeat domain 35 IAGP HPO ORPHA:1515 NCBI chr 2:19,910,263...19,990,105
Ensembl chr 2:19,910,263...19,990,105
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO MIM:224750 MIM:257980 ORPHA:50944 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
G WRAP53 WD repeat containing antisense to TP53 IAGP HPO ORPHA:1775 NCBI chr17:7,686,071...7,703,502
Ensembl chr17:7,686,071...7,703,502
JBrowse link
G WWOX WW domain containing oxidoreductase IAGP HPO ORPHA:442835 NCBI chr16:78,099,654...79,212,667
Ensembl chr16:78,099,400...79,212,667
JBrowse link
G XYLT1 xylosyltransferase 1 IAGP HPO MIM:615777 NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
JBrowse link
G YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma IAGP HPO ORPHA:442835 NCBI chr 7:76,326,799...76,358,991
Ensembl chr 7:76,326,799...76,358,991
JBrowse link
G ZMPSTE24 zinc metallopeptidase STE24 IAGP HPO ORPHA:740 NCBI chr 1:40,258,236...40,294,180
Ensembl chr 1:40,258,041...40,294,180
JBrowse link
Mesiodens term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CAMTA1 calmodulin binding transcription activator 1 IAGP HPO ORPHA:314647 NCBI chr 1:6,785,454...7,769,706
Ensembl chr 1:6,785,454...7,769,706
JBrowse link
G POU4F1 POU class 4 homeobox 1 IAGP HPO ORPHA:314647 NCBI chr13:78,598,362...78,603,552
Ensembl chr13:78,598,362...78,603,552
JBrowse link
G PUF60 poly(U) binding splicing factor 60 IAGP HPO ORPHA:508488 NCBI chr 8:143,816,344...143,829,315
Ensembl chr 8:143,816,344...143,830,709
JBrowse link
Oligodontia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADNP activity dependent neuroprotector homeobox IAGP HPO MIM:615873 NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
JBrowse link
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO MIM:148050 ORPHA:2332 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:79499 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G AXIN2 axin 2 IAGP ClinVar Annotator: match by term: Number of teeth decreased by more than six
ClinVar Annotator: match by term: Oligodontia
ClinVar
HPO
PMID:15042511 PMID:21416598 PMID:21626677 PMID:25637381 PMID:25741868 More... MIM:608615 ORPHA:99798 NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
JBrowse link
G BCL11B BCL11 transcription factor B IAGP HPO MIM:618092 NCBI chr14:99,169,287...99,272,197
Ensembl chr14:99,169,287...99,272,197
JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO MIM:235510 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CHSY1 chondroitin sulfate synthase 1 IAGP HPO ORPHA:363417 NCBI chr15:101,175,727...101,252,048
Ensembl chr15:101,175,727...101,252,048
JBrowse link
G CLDN1 claudin 1 IAGP HPO MIM:607626 ORPHA:59303 NCBI chr 3:190,305,707...190,322,446
Ensembl chr 3:190,305,707...190,322,446
JBrowse link
G CUX1 cut like homeobox 1 IAGP HPO MIM:618330 NCBI chr 7:101,816,007...102,283,958
Ensembl chr 7:101,815,904...102,283,958
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO MIM:616331 ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 ORPHA:99798 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDAR ectodysplasin A receptor IAGP ClinVar Annotator: match by term: Oligodontia ClinVar
HPO
PMID:23210707 MIM:224900 NCBI chr 2:108,894,471...108,989,220
Ensembl chr 2:108,894,471...108,989,372
JBrowse link
G EDARADD EDAR associated via death domain IAGP HPO MIM:224900 MIM:614940 ORPHA:99798 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:99798 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FLNA filamin A IAGP HPO ORPHA:1826 ORPHA:90650 ORPHA:90652 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO MIM:616580 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G HUWE1 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 IAGP HPO MIM:309590 NCBI chr  X:53,532,096...53,686,719
Ensembl chr  X:53,532,096...53,686,752
JBrowse link
G IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma IAGP HPO MIM:308300 NCBI chr  X:154,541,238...154,565,046
Ensembl chr  X:154,541,199...154,565,046
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:99798 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G KCNJ2 potassium inwardly rectifying channel subfamily J member 2 IAGP HPO MIM:170390 ORPHA:37553 NCBI chr17:70,169,532...70,180,044
Ensembl chr17:70,168,673...70,180,044
JBrowse link
G KCNJ5 potassium inwardly rectifying channel subfamily J member 5 IAGP HPO ORPHA:37553 NCBI chr11:128,891,356...128,921,163
Ensembl chr11:128,891,356...128,921,163
JBrowse link
G KDM6A lysine demethylase 6A IAGP HPO MIM:147920 NCBI chr  X:44,873,188...45,112,779
Ensembl chr  X:44,873,188...45,112,779
JBrowse link
G KIFBP kinesin family binding protein IAGP HPO MIM:609460 NCBI chr10:68,988,803...69,016,982
Ensembl chr10:68,988,803...69,043,544
JBrowse link
G KMT2D lysine methyltransferase 2D IAGP HPO MIM:147920 NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
JBrowse link
G KREMEN1 kringle containing transmembrane protein 1 IAGP HPO MIM:617392 NCBI chr22:29,073,035...29,168,333
Ensembl chr22:29,073,035...29,168,333
JBrowse link
G LOC129931343 ATAC-STARR-seq lymphoblastoid active region 1622 IAGP ClinVar Annotator: match by term: Oligodontia ClinVar PMID:31089205 NCBI chr 1:145,977,432...145,977,521 JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Oligodontia ClinVar
HPO
PMID:25741868 ORPHA:99798 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP HPO MIM:601216 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930
JBrowse link
G MAF MAF bZIP transcription factor IAGP HPO ORPHA:1272 NCBI chr16:79,202,622...79,600,737
Ensembl chr16:79,585,843...79,600,737
JBrowse link
G MAP3K7 mitogen-activated protein kinase kinase kinase 7 IAGP HPO ORPHA:1826 NCBI chr 6:90,513,579...90,587,072
Ensembl chr 6:90,513,573...90,587,086
JBrowse link
G MSX1 msh homeobox 1 IAGP ClinVar Annotator: match by term: Oligodontia ClinVar
HPO
PMID:24914010 ORPHA:99798 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NEPRO nucleolus and neural progenitor protein IAGP HPO MIM:618853 NCBI chr 3:113,002,444...113,019,671
Ensembl chr 3:113,002,444...113,019,861
JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Oligodontia ClinVar
HPO
PMID:29969831 MIM:604625 ORPHA:99798 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PIK3C2A phosphatidylinositol-4-phosphate 3-kinase catalytic subunit type 2 alpha IAGP HPO MIM:618440 ORPHA:557003 NCBI chr11:17,086,575...17,207,986
Ensembl chr11:17,077,730...17,207,986
JBrowse link
G PITX2 paired like homeodomain 2 IAGP HPO MIM:180500 NCBI chr 4:110,617,423...110,642,123
Ensembl chr 4:110,617,423...110,642,123
JBrowse link
G POLR3A RNA polymerase III subunit A IAGP HPO MIM:607694 ORPHA:447896 NCBI chr10:77,975,149...78,029,515
Ensembl chr10:77,953,148...78,029,522
JBrowse link
G POLR3B RNA polymerase III subunit B IAGP HPO MIM:607694 MIM:614381 NCBI chr12:106,357,748...106,510,198
Ensembl chr12:106,357,748...106,510,198
JBrowse link
G POLR3GL RNA polymerase III subunit GL IAGP ClinVar Annotator: match by term: Number of teeth decreased by more than six
ClinVar Annotator: match by term: Oligodontia
ClinVar
HPO
PMID:25741868 PMID:31089205 MIM:619234 NCBI chr 1:145,964,690...145,978,848
Ensembl chr 1:145,964,690...145,978,848
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO MIM:305600 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PPP1R15B protein phosphatase 1 regulatory subunit 15B IAGP HPO MIM:616817 ORPHA:391408 NCBI chr 1:204,395,826...204,411,817
Ensembl chr 1:204,396,492...204,411,887
JBrowse link
G PTH1R parathyroid hormone 1 receptor IAGP HPO MIM:600002 NCBI chr 3:46,877,721...46,903,799
Ensembl chr 3:46,877,721...46,903,799
JBrowse link
G PTHLH parathyroid hormone like hormone IAGP HPO MIM:613382 NCBI chr12:27,958,084...27,972,733
Ensembl chr12:27,958,084...27,972,733
JBrowse link
G PUM1 pumilio RNA binding family member 1 IAGP HPO MIM:620719 NCBI chr 1:30,931,506...31,065,717
Ensembl chr 1:30,931,506...31,065,991
JBrowse link
G RANBP2 RAN binding protein 2 IAGP ClinVar Annotator: match by term: Oligodontia ClinVar PMID:23210707 NCBI chr 2:108,719,482...109,842,301
Ensembl chr 2:108,719,482...108,785,810
JBrowse link
G RHOA ras homolog family member A IAGP HPO MIM:618727 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998
JBrowse link
G RPS6KA3 ribosomal protein S6 kinase A3 IAGP HPO ORPHA:276630 NCBI chr  X:20,149,911...20,267,097
Ensembl chr  X:20,149,911...20,267,519
JBrowse link
G SATB2 SATB homeobox 2 IAGP HPO MIM:612313 ORPHA:251019 NCBI chr 2:199,269,500...199,471,266
Ensembl chr 2:199,269,505...199,471,266
JBrowse link
G SCUBE3 signal peptide, CUB domain and EGF like domain containing 3 IAGP HPO MIM:619184 NCBI chr 6:35,213,956...35,253,079
Ensembl chr 6:35,213,956...35,253,079
JBrowse link
G SH3BP2 SH3 domain binding protein 2 IAGP HPO MIM:118400 ORPHA:184 NCBI chr 4:2,793,085...2,841,096
Ensembl chr 4:2,793,023...2,841,291
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO MIM:612289 ORPHA:2095 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SMOC2 SPARC related modular calcium binding 2 IAGP HPO MIM:125400 NCBI chr 6:168,441,184...168,667,992
Ensembl chr 6:168,441,151...168,673,445
JBrowse link
G SRCAP Snf2 related CREBBP activator protein IAGP HPO ORPHA:2044 NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
JBrowse link
G SRD5A3 steroid 5 alpha-reductase 3 IAGP HPO ORPHA:324737 NCBI chr 4:55,346,242...55,373,100
Ensembl chr 4:55,346,213...55,373,100
JBrowse link
G SUMO1 small ubiquitin like modifier 1 IAGP HPO ORPHA:99798 NCBI chr 2:202,206,171...202,238,597
Ensembl chr 2:202,206,182...202,238,599
JBrowse link
G TGFA transforming growth factor alpha IAGP HPO ORPHA:99798 NCBI chr 2:70,447,284...70,553,826
Ensembl chr 2:70,447,284...70,554,193
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:103285 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRIO trio Rho guanine nucleotide exchange factor IAGP HPO MIM:617061 NCBI chr 5:14,143,342...14,510,204
Ensembl chr 5:14,143,342...14,532,128
JBrowse link
G TRMT10A tRNA methyltransferase 10A IAGP HPO ORPHA:391408 NCBI chr 4:99,546,711...99,564,039
Ensembl chr 4:99,546,709...99,564,039
JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP HPO MIM:620173 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572
JBrowse link
G UBR1 ubiquitin protein ligase E3 component n-recognin 1 IAGP HPO ORPHA:2315 NCBI chr15:42,942,897...43,106,038
Ensembl chr15:42,942,897...43,106,113
JBrowse link
G WNT10A Wnt family member 10A IAGP HPO ORPHA:99798 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO ORPHA:99798 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
Oligodontia of primary teeth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PAX9 paired box 9 IAGP HPO MIM:604625 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
Selective tooth agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO MIM:124480 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO MIM:210600 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G CDH3 cadherin 3 IAGP HPO MIM:225280 ORPHA:1897 NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO MIM:613823 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G EDA ectodysplasin A IAGP ClinVar Annotator: match by term: Tooth agenesis, selective ClinVar
HPO
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 More... MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDA2R ectodysplasin A2 receptor IAGP ClinVar Annotator: match by term: Tooth agenesis, selective ClinVar PMID:25741868 NCBI chr  X:66,595,637...66,639,269
Ensembl chr  X:66,595,637...66,639,298
JBrowse link
G FLNA filamin A IAGP HPO MIM:305620 MIM:311300 NCBI chr  X:154,348,531...154,374,634
Ensembl chr  X:154,348,524...154,374,634
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO MIM:164200 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G GREM2 gremlin 2, DAN family BMP antagonist IAGP HPO MIM:617275 NCBI chr 1:240,489,573...240,612,155
Ensembl chr 1:240,489,573...240,612,155
JBrowse link
G IRF6 interferon regulatory factor 6 IAGP ClinVar Annotator: match by term: Missing a tooth ClinVar PMID:26346622 PMID:27834299 PMID:28762674 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G ITPA inosine triphosphatase IAGP ClinVar Annotator: match by term: Tooth agenesis, selective ClinVar PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 More... NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
JBrowse link
G KDF1 keratinocyte differentiation factor 1 IAGP ClinVar Annotator: match by term: Tooth agenesis, selective ClinVar PMID:25741868 NCBI chr 1:26,949,562...26,960,468
Ensembl chr 1:26,949,562...26,960,468
JBrowse link
G LOC129935618 ATAC-STARR-seq lymphoblastoid silent region 12329 IAGP ClinVar Annotator: match by term: Selective tooth agenesis ClinVar PMID:25741868 NCBI chr 2:218,880,558...218,880,767 JBrowse link
G LOC129935619 ATAC-STARR-seq lymphoblastoid silent region 12330 IAGP ClinVar Annotator: match by term: Selective tooth agenesis ClinVar PMID:25741868 NCBI chr 2:218,880,788...218,880,927 JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Tooth agenesis, selective
ClinVar Annotator: match by term: Selective tooth agenesis
ClinVar PMID:9536098 PMID:11827258 PMID:12605438 PMID:12786960 PMID:14571272 More... NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Tooth agenesis, selective ClinVar PMID:11827258 PMID:28492532 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606
JBrowse link
G TP63 tumor protein p63 IAGP HPO MIM:106260 MIM:604292 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Selective tooth agenesis ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link
G WNT10B Wnt family member 10B IAGP HPO MIM:617073 NCBI chr12:48,965,340...48,971,735
Ensembl chr12:48,965,340...48,971,735
JBrowse link
Solitary median maxillary central incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ANKRD11 ankyrin repeat domain containing 11 IAGP HPO ORPHA:261250 NCBI chr16:89,267,630...89,490,561
Ensembl chr16:89,267,619...89,490,561
JBrowse link
G BCOR BCL6 corepressor IAGP HPO ORPHA:2712 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G CDON cell adhesion associated, oncogene regulated IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr11:125,956,821...126,063,352
Ensembl chr11:125,955,796...126,063,335
JBrowse link
G CNOT1 CCR4-NOT transcription complex subunit 1 IAGP HPO ORPHA:556955 NCBI chr16:58,519,951...58,629,826
Ensembl chr16:58,519,951...58,629,885
JBrowse link
G CRIPTO cripto, EGF-CFC family member IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 3:46,574,535...46,582,457
Ensembl chr 3:46,574,534...46,582,457
JBrowse link
G DISP1 dispatched RND transporter family member 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:222,815,039...223,005,995
Ensembl chr 1:222,815,022...223,005,995
JBrowse link
G DLL1 delta like canonical Notch ligand 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 6:170,282,206...170,291,078
Ensembl chr 6:170,282,206...170,306,565
JBrowse link
G EVC EvC ciliary complex subunit 1 IAGP HPO MIM:193530 ORPHA:952 NCBI chr 4:5,711,201...5,829,057
Ensembl chr 4:5,711,201...5,814,305
JBrowse link
G EVC2 EvC ciliary complex subunit 2 IAGP HPO MIM:193530 ORPHA:952 NCBI chr 4:5,529,011...5,709,548
Ensembl chr 4:5,542,772...5,709,548
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FOXH1 forkhead box H1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 8:144,473,412...144,475,849
Ensembl chr 8:144,473,412...144,475,849
JBrowse link
G GAS1 growth arrest specific 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:86,944,362...86,947,506
Ensembl chr 9:86,944,362...86,947,506
JBrowse link
G GLI2 GLI family zinc finger 2 IAGP HPO MIM:610829 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:120,735,868...120,992,653
Ensembl chr 2:120,735,623...120,992,653
JBrowse link
G MID1 midline 1 IAGP HPO MIM:300000 NCBI chr  X:10,445,310...10,833,683
Ensembl chr  X:10,445,310...10,833,654
JBrowse link
G NODAL nodal growth differentiation factor IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr10:70,431,936...70,447,951
Ensembl chr10:70,431,936...70,447,951
JBrowse link
G PLCH1 phospholipase C eta 1 IAGP HPO ORPHA:93925 NCBI chr 3:155,450,934...155,745,071
Ensembl chr 3:155,375,580...155,745,071
JBrowse link
G PTCH1 patched 1 IAGP HPO MIM:610828 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
JBrowse link
G SHH sonic hedgehog signaling molecule IAGP ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome ClinVar
HPO
PMID:9302262 PMID:10556296 PMID:11471164 PMID:12567406 PMID:12709790 More... MIM:142945 MIM:147250 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 7:155,799,980...155,812,463
Ensembl chr 7:155,799,980...155,812,463
JBrowse link
G SIX3 SIX homeobox 3 IAGP ClinVar Annotator: match by term: Solitary median maxillary central incisor syndrome HPO
ClinVar
PMID:18791198 PMID:19346217 PMID:20157829 PMID:26080100 PMID:26467025 More... MIM:157170 ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 2:44,941,702...44,946,071
Ensembl chr 2:44,941,702...44,946,071
JBrowse link
G SMAD2 SMAD family member 2 IAGP HPO MIM:619657 NCBI chr18:47,808,957...47,930,872
Ensembl chr18:47,808,957...47,931,146
JBrowse link
G SMC1A structural maintenance of chromosomes 1A IAGP HPO MIM:301044 ORPHA:220386 NCBI chr  X:53,374,149...53,422,728
Ensembl chr  X:53,374,149...53,422,728
JBrowse link
G STAG2 STAG2 cohesin complex component IAGP HPO MIM:301043 ORPHA:220386 ORPHA:93925 NCBI chr  X:123,960,560...124,102,656
Ensembl chr  X:123,960,212...124,422,664
JBrowse link
G STIL STIL centriolar assembly protein IAGP HPO MIM:612703 ORPHA:220386 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr 1:47,250,139...47,314,896
Ensembl chr 1:47,250,139...47,314,892
JBrowse link
G SUFU SUFU negative regulator of hedgehog signaling IAGP HPO ORPHA:280200 NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
JBrowse link
G TGIF1 TGFB induced factor homeobox 1 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr18:3,412,009...3,459,978
Ensembl chr18:3,411,608...3,459,978
JBrowse link
G ZIC2 Zic family member 2 IAGP HPO ORPHA:220386 ORPHA:280200 ORPHA:93924 ORPHA:93925 ORPHA:93926 NCBI chr13:99,981,784...99,986,765
Ensembl chr13:99,981,784...99,986,765
JBrowse link
Supernumerary maxillary incisor term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IRF6 interferon regulatory factor 6 IAGP HPO ORPHA:199302 NCBI chr 1:209,785,617...209,806,142
Ensembl chr 1:209,785,617...209,806,175
JBrowse link
G MSX1 msh homeobox 1 IAGP HPO ORPHA:199302 NCBI chr 4:4,859,665...4,863,936
Ensembl chr 4:4,859,665...4,863,936
JBrowse link
G NECTIN1 nectin cell adhesion molecule 1 IAGP HPO ORPHA:199302 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO MIM:302350 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:199302 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
Supernumerary tooth term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACSL4 acyl-CoA synthetase long chain family member 4 IAGP HPO ORPHA:86818 NCBI chr  X:109,641,335...109,733,257
Ensembl chr  X:109,624,244...109,733,403
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G AMMECR1 AMMECR nuclear protein 1 IAGP HPO ORPHA:86818 NCBI chr  X:110,194,186...110,440,233
Ensembl chr  X:110,194,186...110,440,318
JBrowse link
G APC APC regulator of WNT signaling pathway IAGP HPO MIM:175100 ORPHA:247806 ORPHA:79665 NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
JBrowse link
G ATP6V1B2 ATPase H+ transporting V1 subunit B2 IAGP HPO ORPHA:3473 NCBI chr 8:20,197,381...20,221,696
Ensembl chr 8:20,197,381...20,230,399
JBrowse link
G BCOR BCL6 corepressor IAGP HPO MIM:300166 NCBI chr  X:40,051,246...40,177,329
Ensembl chr  X:40,049,815...40,177,329
JBrowse link
G C2CD3 C2 domain containing 3 centriole elongation regulator IAGP HPO MIM:615948 ORPHA:434179 NCBI chr11:74,012,718...74,171,002
Ensembl chr11:74,012,718...74,171,210
JBrowse link
G CBFB core-binding factor subunit beta IAGP HPO MIM:620099 NCBI chr16:67,029,149...67,101,058
Ensembl chr16:67,028,984...67,101,058
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CDH11 cadherin 11 IAGP HPO MIM:211380 NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
JBrowse link
G CHD6 chromodomain helicase DNA binding protein 6 IAGP HPO ORPHA:2108 NCBI chr20:41,402,083...41,618,377
Ensembl chr20:41,402,083...41,618,384
JBrowse link
G CREBBP CREB binding protein IAGP HPO ORPHA:353277 ORPHA:353281 NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
JBrowse link
G DDX59 DEAD-box helicase 59 IAGP HPO ORPHA:2919 NCBI chr 1:200,640,805...200,669,907
Ensembl chr 1:200,623,896...200,669,907
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP HPO ORPHA:3107 NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418
JBrowse link
G DVL3 dishevelled segment polarity protein 3 IAGP HPO ORPHA:3107 NCBI chr 3:184,155,377...184,173,614
Ensembl chr 3:184,155,377...184,173,614
JBrowse link
G DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 IAGP HPO MIM:617088 NCBI chr 2:43,774,039...43,828,347
Ensembl chr 2:43,774,039...43,810,010
JBrowse link
G DYRK1A dual specificity tyrosine phosphorylation regulated kinase 1A IAGP HPO ORPHA:268261 NCBI chr21:37,365,573...37,526,358
Ensembl chr21:37,365,573...37,526,358
JBrowse link
G EP300 E1A binding protein p300 IAGP HPO ORPHA:353284 NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
JBrowse link
G EXT1 exostosin glycosyltransferase 1 IAGP HPO ORPHA:502 NCBI chr 8:117,794,490...118,111,826
Ensembl chr 8:117,794,490...118,111,826
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FGF3 fibroblast growth factor 3 IAGP HPO ORPHA:90024 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416
JBrowse link
G FZD2 frizzled class receptor 2 IAGP HPO ORPHA:3107 NCBI chr17:44,557,484...44,561,262
Ensembl chr17:44,557,484...44,561,262
JBrowse link
G HSPG2 heparan sulfate proteoglycan 2 IAGP HPO ORPHA:800 NCBI chr 1:21,822,244...21,937,310
Ensembl chr 1:21,822,244...21,937,310
JBrowse link
G IL11RA interleukin 11 receptor subunit alpha IAGP HPO MIM:614188 NCBI chr 9:34,652,185...34,661,902
Ensembl chr 9:34,652,162...34,661,902
JBrowse link
G IL6ST interleukin 6 cytokine family signal transducer IAGP HPO MIM:619752 NCBI chr 5:55,935,095...55,994,963
Ensembl chr 5:55,935,095...55,995,022
JBrowse link
G KCNE5 potassium voltage-gated channel subfamily E regulatory subunit 5 IAGP HPO ORPHA:86818 NCBI chr  X:109,623,700...109,625,172
Ensembl chr  X:109,623,700...109,625,172
JBrowse link
G KCNH1 potassium voltage-gated channel subfamily H member 1 IAGP HPO ORPHA:3473 NCBI chr 1:210,678,314...211,134,148
Ensembl chr 1:210,676,823...211,134,165
JBrowse link
G KCNN3 potassium calcium-activated channel subfamily N member 3 IAGP HPO ORPHA:3473 NCBI chr 1:154,697,455...154,870,281
Ensembl chr 1:154,697,455...154,870,281
JBrowse link
G KRT14 keratin 14 IAGP HPO ORPHA:69087 NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
JBrowse link
G LEMD2 LEM domain nuclear envelope protein 2 IAGP ClinVar Annotator: match by term: Teeth, supernumerary ClinVar PMID:25741868 PMID:30905398 NCBI chr 6:33,771,213...33,789,130
Ensembl chr 6:33,771,202...33,789,130
JBrowse link
G MSX2 msh homeobox 2 IAGP HPO MIM:604757 NCBI chr 5:174,724,582...174,730,896
Ensembl chr 5:174,724,582...174,730,896
JBrowse link
G NHS NHS actin remodeling regulator IAGP HPO ORPHA:627 NCBI chr  X:17,375,200...17,735,994
Ensembl chr  X:17,375,200...17,735,994
JBrowse link
G NXN nucleoredoxin IAGP HPO ORPHA:1507 NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
JBrowse link
G OFD1 OFD1 centriole and centriolar satellite protein IAGP HPO MIM:311200 NCBI chr  X:13,714,505...13,773,738
Ensembl chr  X:13,734,743...13,777,955
JBrowse link
G PIGL phosphatidylinositol glycan anchor biosynthesis class L IAGP HPO ORPHA:3474 NCBI chr17:16,217,210...16,326,411
Ensembl chr17:16,217,191...16,351,797
JBrowse link
G RAD21 RAD21 cohesin complex component IAGP HPO ORPHA:502 NCBI chr 8:116,845,934...116,874,776
Ensembl chr 8:116,845,934...116,874,776
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO MIM:268400 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO ORPHA:1507 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G RPS23 ribosomal protein S23 IAGP HPO MIM:617412 NCBI chr 5:82,273,320...82,278,354
Ensembl chr 5:82,273,320...82,278,396
JBrowse link
G RUNX2 RUNX family transcription factor 2 IAGP HPO MIM:119600 ORPHA:1452 NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
JBrowse link
G SLC37A4 solute carrier family 37 member 4 IAGP HPO MIM:619525 NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
JBrowse link
G TCF12 transcription factor 12 IAGP HPO MIM:619718 NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
JBrowse link
G TRPS1 transcriptional repressor GATA binding 1 IAGP HPO MIM:190351 ORPHA:502 ORPHA:77258 NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
JBrowse link
G WNT5A Wnt family member 5A IAGP HPO ORPHA:3107 NCBI chr 3:55,465,715...55,505,263
Ensembl chr 3:55,465,715...55,490,539
JBrowse link
G ZFX zinc finger protein X-linked IAGP HPO MIM:301118 NCBI chr  X:24,148,982...24,216,255
Ensembl chr  X:24,149,173...24,216,255
JBrowse link
Tooth agenesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AAK1 AP2 associated kinase 1 IAGP ClinVar Annotator: match by term: Reduced number of teeth ClinVar NCBI chr 2:69,457,997...69,643,739
Ensembl chr 2:69,457,997...69,674,349
JBrowse link
G ADAMTS3 ADAM metallopeptidase with thrombospondin type 1 motif 3 IAGP HPO ORPHA:2136 NCBI chr 4:72,280,969...72,569,221
Ensembl chr 4:72,280,969...72,569,221
JBrowse link
G AKT1 AKT serine/threonine kinase 1 IAGP HPO ORPHA:744 NCBI chr14:104,769,349...104,795,748
Ensembl chr14:104,769,349...104,795,759
JBrowse link
G ALMS1 ALMS1 centrosome and basal body associated protein IAGP HPO ORPHA:64 NCBI chr 2:73,385,758...73,609,919
Ensembl chr 2:73,385,758...73,625,166
JBrowse link
G ANAPC1 anaphase promoting complex subunit 1 IAGP HPO ORPHA:221008 NCBI chr 2:111,766,231...111,884,193
Ensembl chr 2:111,611,639...111,884,690
JBrowse link
G ANKRD30B ankyrin repeat domain 30B IAGP ClinVar Annotator: match by term: Reduced number of teeth ClinVar NCBI chr18:14,748,172...14,941,135
Ensembl chr18:14,728,272...14,854,667
JBrowse link
G ANOS1 anosmin 1 IAGP HPO ORPHA:478 NCBI chr  X:8,528,874...8,732,137
Ensembl chr  X:8,528,874...8,732,137
JBrowse link
G ATR ATR serine/threonine kinase IAGP HPO ORPHA:808 NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
JBrowse link
G ATRIP ATR interacting protein IAGP HPO ORPHA:808 NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645
JBrowse link
G BMP4 bone morphogenetic protein 4 IAGP ClinVar Annotator: match by term: Tooth agenesis ClinVar
HPO
ORPHA:828 NCBI chr14:53,949,736...53,956,891
Ensembl chr14:53,949,736...53,958,761
JBrowse link
G CCBE1 collagen and calcium binding EGF domains 1 IAGP HPO ORPHA:2136 NCBI chr18:59,430,939...59,697,721
Ensembl chr18:59,430,939...59,697,662
JBrowse link
G CCDC141 coiled-coil domain containing 141 IAGP HPO ORPHA:478 NCBI chr 2:178,814,978...179,050,137
Ensembl chr 2:178,829,757...179,050,137
JBrowse link
G CENPE centromere protein E IAGP HPO ORPHA:808 NCBI chr 4:103,105,811...103,198,343
Ensembl chr 4:103,105,349...103,198,445
JBrowse link
G CEP152 centrosomal protein 152 IAGP HPO ORPHA:808 NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
JBrowse link
G CHD7 chromodomain helicase DNA binding protein 7 IAGP HPO ORPHA:478 NCBI chr 8:60,678,740...60,868,028
Ensembl chr 8:60,678,740...60,868,028
JBrowse link
G COL9A2 collagen type IX alpha 2 chain IAGP HPO MIM:600204 NCBI chr 1:40,300,489...40,317,286
Ensembl chr 1:40,300,489...40,317,813
JBrowse link
G CREB3L1 cAMP responsive element binding protein 3 like 1 IAGP HPO MIM:616229 NCBI chr11:46,277,662...46,321,409
Ensembl chr11:46,277,662...46,321,409
JBrowse link
G CTNND1 catenin delta 1 IAGP HPO MIM:617681 NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
JBrowse link
G CTSC cathepsin C IAGP HPO ORPHA:678 NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
JBrowse link
G DCC DCC netrin 1 receptor IAGP HPO ORPHA:478 NCBI chr18:52,340,197...53,535,899
Ensembl chr18:52,340,197...53,535,899
JBrowse link
G DHCR7 7-dehydrocholesterol reductase IAGP HPO ORPHA:818 NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
JBrowse link
G DHX37 DEAH-box helicase 37 IAGP HPO MIM:618731 NCBI chr12:124,946,826...124,989,131
Ensembl chr12:124,946,825...124,989,131
JBrowse link
G DNA2 DNA replication helicase/nuclease 2 IAGP HPO ORPHA:808 NCBI chr10:68,414,064...68,472,521
Ensembl chr10:68,414,064...68,472,121
JBrowse link
G DPP6 dipeptidyl peptidase like 6 IAGP HPO ORPHA:2514 NCBI chr 7:153,748,133...154,894,285
Ensembl chr 7:153,748,133...154,894,285
JBrowse link
G DSP desmoplakin IAGP HPO MIM:605676 MIM:615821 NCBI chr 6:7,541,671...7,586,714
Ensembl chr 6:7,541,326...7,586,717
JBrowse link
G DUSP6 dual specificity phosphatase 6 IAGP HPO ORPHA:478 NCBI chr12:89,347,235...89,352,501
Ensembl chr12:89,347,235...89,352,501
JBrowse link
G EDA ectodysplasin A IAGP HPO MIM:313500 NCBI chr  X:69,616,113...70,039,472
Ensembl chr  X:69,616,067...70,039,472
JBrowse link
G EDARADD EDAR associated via death domain IAGP ClinVar Annotator: match by term: Reduced number of teeth ClinVar PMID:25741868 NCBI chr 1:236,348,259...236,484,930
Ensembl chr 1:236,348,257...236,502,915
JBrowse link
G FAT4 FAT atypical cadherin 4 IAGP HPO ORPHA:2136 NCBI chr 4:125,314,955...125,492,932
Ensembl chr 4:125,314,918...125,492,932
JBrowse link
G FEZF1 FEZ family zinc finger 1 IAGP HPO ORPHA:478 NCBI chr 7:122,301,303...122,310,723
Ensembl chr 7:122,301,303...122,310,691
JBrowse link
G FGF17 fibroblast growth factor 17 IAGP HPO ORPHA:478 NCBI chr 8:22,039,672...22,048,809
Ensembl chr 8:22,042,398...22,048,809
JBrowse link
G FGF8 fibroblast growth factor 8 IAGP HPO ORPHA:478 NCBI chr10:101,770,109...101,780,369
Ensembl chr10:101,770,109...101,780,371
JBrowse link
G FGFR1 fibroblast growth factor receptor 1 IAGP HPO MIM:147950 ORPHA:2645 ORPHA:478 NCBI chr 8:38,411,143...38,468,635
Ensembl chr 8:38,400,215...38,468,834
JBrowse link
G FGFR2 fibroblast growth factor receptor 2 IAGP HPO ORPHA:1555 NCBI chr10:121,478,330...121,598,458
Ensembl chr10:121,478,332...121,598,458
JBrowse link
G FLRT3 fibronectin leucine rich transmembrane protein 3 IAGP HPO ORPHA:478 NCBI chr20:14,322,985...14,337,612
Ensembl chr20:14,322,985...14,337,614
JBrowse link
G GHR growth hormone receptor IAGP HPO ORPHA:633 NCBI chr 5:42,423,439...42,721,878
Ensembl chr 5:42,423,439...42,721,878
JBrowse link
G GJA1 gap junction protein alpha 1 IAGP HPO ORPHA:2710 NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
JBrowse link
G HESX1 HESX homeobox 1 IAGP HPO ORPHA:478 NCBI chr 3:57,197,838...57,227,615
Ensembl chr 3:57,197,838...57,227,606
JBrowse link
G HNRNPK heterogeneous nuclear ribonucleoprotein K IAGP HPO ORPHA:352665 ORPHA:453504 NCBI chr 9:83,968,083...83,980,615
Ensembl chr 9:83,968,083...83,980,631
JBrowse link
G HS6ST1 heparan sulfate 6-O-sulfotransferase 1 IAGP HPO ORPHA:478 NCBI chr 2:128,265,480...128,318,868
Ensembl chr 2:128,236,716...128,318,868
JBrowse link
G IL17RD interleukin 17 receptor D IAGP HPO ORPHA:478 NCBI chr 3:57,089,982...57,170,317
Ensembl chr 3:57,089,982...57,170,306
JBrowse link
G LMNB1 lamin B1 IAGP HPO ORPHA:2514 NCBI chr 5:126,776,623...126,837,020
Ensembl chr 5:126,776,623...126,837,020
JBrowse link
G LRP6 LDL receptor related protein 6 IAGP ClinVar Annotator: match by term: Tooth agenesis
ClinVar Annotator: match by term: Reduced number of teeth
ClinVar PMID:22813217 PMID:23033978 PMID:26963285 PMID:28492532 NCBI chr12:12,116,025...12,267,044
Ensembl chr12:12,116,025...12,267,044
JBrowse link
G NDNF neuron derived neurotrophic factor IAGP HPO ORPHA:478 NCBI chr 4:121,035,613...121,072,535
Ensembl chr 4:121,035,613...121,073,021
JBrowse link
G NUP85 nucleoporin 85 IAGP HPO ORPHA:808 NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
JBrowse link
G OCRL OCRL inositol polyphosphate-5-phosphatase IAGP HPO ORPHA:534 NCBI chr  X:129,540,259...129,592,556
Ensembl chr  X:129,539,849...129,592,561
JBrowse link
G PAX9 paired box 9 IAGP ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
JBrowse link
G PCNT pericentrin IAGP HPO ORPHA:2637 ORPHA:808 NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
JBrowse link
G PLK4 polo like kinase 4 IAGP HPO ORPHA:808 NCBI chr 4:127,880,893...127,899,224
Ensembl chr 4:127,880,893...127,899,224
JBrowse link
G PLXND1 plexin D1 IAGP HPO ORPHA:570 NCBI chr 3:129,555,214...129,606,676
Ensembl chr 3:129,555,214...129,606,676
JBrowse link
G POLR1B RNA polymerase I subunit B IAGP HPO ORPHA:861 NCBI chr 2:112,542,036...112,579,818
Ensembl chr 2:112,541,915...112,579,818
JBrowse link
G POLR1C RNA polymerase I and III subunit C IAGP HPO ORPHA:861 NCBI chr 6:43,517,089...43,562,407
Ensembl chr 6:43,509,702...43,562,419
JBrowse link
G POLR1D RNA polymerase I and III subunit D IAGP HPO ORPHA:861 NCBI chr13:27,620,743...27,667,411
Ensembl chr13:27,620,742...27,744,237
JBrowse link
G PORCN porcupine O-acyltransferase IAGP HPO ORPHA:2092 NCBI chr  X:48,508,992...48,520,814
Ensembl chr  X:48,508,959...48,520,814
JBrowse link
G PROK2 prokineticin 2 IAGP HPO ORPHA:478 NCBI chr 3:71,771,655...71,785,148
Ensembl chr 3:71,771,655...71,785,206
JBrowse link
G PROKR2 prokineticin receptor 2 IAGP HPO ORPHA:478 NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
JBrowse link
G RANBP3-DT RANBP3 divergent transcript IAGP ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr19:5,978,403...6,020,363
Ensembl chr19:5,978,176...6,020,363
JBrowse link
G RBBP8 RB binding protein 8, endonuclease IAGP HPO ORPHA:808 NCBI chr18:22,914,139...23,026,486
Ensembl chr18:22,798,261...23,026,488
JBrowse link
G RECQL4 RecQ like helicase 4 IAGP HPO ORPHA:221016 NCBI chr 8:144,511,288...144,517,833
Ensembl chr 8:144,511,288...144,517,845
JBrowse link
G REV3L REV3 like, DNA directed polymerase zeta catalytic subunit IAGP HPO ORPHA:570 NCBI chr 6:111,299,033...111,483,711
Ensembl chr 6:111,299,028...111,483,715
JBrowse link
G RFX2 regulatory factor X2 IAGP ClinVar Annotator: match by term: Tooth agenesis ClinVar NCBI chr19:5,993,164...6,110,500
Ensembl chr19:5,993,164...6,199,572
JBrowse link
G ROR2 receptor tyrosine kinase like orphan receptor 2 IAGP HPO MIM:268310 NCBI chr 9:91,722,601...91,950,228
Ensembl chr 9:91,563,091...91,950,228
JBrowse link
G SEH1L SEH1 like nucleoporin IAGP ClinVar Annotator: match by term: Reduced number of teeth ClinVar NCBI chr18:12,948,011...12,987,536
Ensembl chr18:12,947,133...12,987,536
JBrowse link
G SEMA3A semaphorin 3A IAGP HPO ORPHA:478 NCBI chr 7:83,955,777...84,492,725
Ensembl chr 7:83,955,777...84,492,724
JBrowse link
G SLC10A7 solute carrier family 10 member 7 IAGP HPO MIM:618363 NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
JBrowse link
G SLC25A21 solute carrier family 25 member 21 IAGP ClinVar Annotator: match by term: Tooth agenesis ClinVar PMID:25741868 NCBI chr14:36,677,921...37,172,606
Ensembl chr14:36,677,921...37,172,606
JBrowse link
G SLC25A24 solute carrier family 25 member 24 IAGP HPO ORPHA:2963 NCBI chr 1:108,134,043...108,200,343
Ensembl chr 1:108,134,043...108,200,849
JBrowse link
G SOX10 SRY-box transcription factor 10 IAGP HPO ORPHA:478 NCBI chr22:37,972,312...37,984,555
Ensembl chr22:37,970,686...37,987,422
JBrowse link
G SPRY4 sprouty RTK signaling antagonist 4 IAGP HPO ORPHA:478 NCBI chr 5:142,310,430...142,325,021
Ensembl chr 5:142,310,427...142,326,455
JBrowse link
G TACR3 tachykinin receptor 3 IAGP HPO ORPHA:478 NCBI chr 4:103,586,031...103,719,985
Ensembl chr 4:103,586,031...103,719,985
JBrowse link
G TCOF1 treacle ribosome biogenesis factor 1 IAGP HPO ORPHA:861 NCBI chr 5:150,357,697...150,400,293
Ensembl chr 5:150,357,629...150,400,308
JBrowse link
G TFAP2A transcription factor AP-2 alpha IAGP HPO ORPHA:1297 NCBI chr 6:10,396,677...10,419,659
Ensembl chr 6:10,393,186...10,419,659
JBrowse link
G TP63 tumor protein p63 IAGP HPO ORPHA:1896 NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
JBrowse link
G TRAIP TRAF interacting protein IAGP HPO ORPHA:808 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574
JBrowse link
G VPS13B vacuolar protein sorting 13 homolog B IAGP HPO ORPHA:193 NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
JBrowse link
G VPS54 VPS54 subunit of GARP complex IAGP ClinVar Annotator: match by term: Reduced number of teeth ClinVar NCBI chr 2:63,892,150...64,019,428
Ensembl chr 2:63,892,146...64,019,428
JBrowse link
G WDR11 WD repeat domain 11 IAGP HPO ORPHA:478 NCBI chr10:120,851,362...120,909,524
Ensembl chr10:120,851,305...120,909,524
JBrowse link
G WNT10A Wnt family member 10A IAGP ClinVar Annotator: match by term: Missing some teeth
ClinVar Annotator: match by term: Reduced number of teeth
ClinVar
HPO
PMID:19559398 PMID:20979233 PMID:21279306 PMID:21484994 PMID:22581971 More... MIM:150400 NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  Human phenotype 87543
    Phenotypic abnormality 87122
      Abnormality of head or neck 5702
        Abnormality of the head 5673
          Abnormality of the face 5210
            Abnormality of the mouth 3784
              Abnormal oral morphology 3686
                Abnormal oral cavity morphology 3662
                  Abnormality of the dentition 1477
                    Abnormal number of teeth 439
                      Abnormal number of incisors + 64
                      Abnormal number of permanent teeth + 36
                      Supernumerary tooth + 53
                      Tooth agenesis + 397
paths to the root