Term: Abnormal number of teeth
Accession: HP:0006483
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
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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
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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
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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
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CDH1
cadherin 1
IAGP
HPO
ORPHA:199306
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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AXIN2
axin 2
IAGP
HPO
ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
ORPHA:99798
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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AXIN2
axin 2
IAGP
HPO
ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
ORPHA:99798
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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CDH11
cadherin 11
IAGP
HPO
MIM:211380
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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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
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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
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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
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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
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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
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CDH1
cadherin 1
IAGP
HPO
ORPHA:199306
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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AXIN2
axin 2
IAGP
HPO
ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
ORPHA:99798
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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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
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AXIN2
axin 2
IAGP
HPO
ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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B3GLCT
beta 3-glucosyltransferase
IAGP
HPO
MIM:261540
NCBI chr13:31,199,975...31,332,276
Ensembl chr13:31,199,975...31,332,276
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
ORPHA:99798
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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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
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TCF12
transcription factor 12
IAGP
HPO
MIM:619718
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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PAX9
paired box 9
IAGP
HPO
MIM:604625
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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C1R
complement C1r
IAGP
HPO
ORPHA:75392
NCBI chr12:7,080,219...7,092,445
Ensembl chr12:7,080,214...7,092,540
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C1S
complement C1s
IAGP
HPO
ORPHA:75392
NCBI chr12:7,060,718...7,071,032
Ensembl chr12:6,988,259...7,071,032
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CREBBP
CREB binding protein
IAGP
HPO
MIM:618332
NCBI chr16:3,725,054...3,880,713
Ensembl chr16:3,725,054...3,880,713
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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RAD51
RAD51 recombinase
IAGP
HPO
MIM:617244
NCBI chr15:40,694,733...40,732,340
Ensembl chr15:40,694,774...40,732,340
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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
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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
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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
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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 PMID:15942154 PMID:17478638 PMID:19148133 PMID:20301722 PMID:21695142 PMID:22934832 PMID:22935661 PMID:24033266 PMID:24388329 PMID:24629175 PMID:25525159 PMID:25729736 PMID:25741868 PMID:26822237 PMID:27290639 PMID:27418648 PMID:32150944 PMID:32581362 PMID:33607811 PMID:33871916 PMID:34625797 PMID:34758064 PMID:36835434 More...
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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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
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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
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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
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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
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AXIN2
axin 2
IAGP
HPO
ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
ORPHA:99798
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CDH1
cadherin 1
IAGP
HPO
MIM:119580
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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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
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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
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CEP152
centrosomal protein 152
IAGP
HPO
MIM:613823
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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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
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CEP290
centrosomal protein 290
IAGP
HPO
ORPHA:110
NCBI chr12:88,049,016...88,142,088
Ensembl chr12:88,049,016...88,142,099
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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
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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
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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
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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
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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
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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
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CLTC
clathrin heavy chain
IAGP
HPO
ORPHA:442835
NCBI chr17:59,619,895...59,696,956
Ensembl chr17:59,619,680...59,696,956
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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
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CPLX1
complexin 1
IAGP
HPO
MIM:194190 ORPHA:280
NCBI chr 4:784,957...826,129
Ensembl chr 4:784,957...826,129
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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EDA
ectodysplasin A
IAGP
ClinVar Annotator: match by term: Hypodontia
ClinVar HPO
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 PMID:33205897 PMID:33943035 PMID:36294409 More...
MIM:305100 MIM:313500
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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FOXG1
forkhead box G1
IAGP
HPO
ORPHA:442835
NCBI chr14:28,766,787...28,770,277
Ensembl chr14:28,764,329...28,770,277
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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IFT27
intraflagellar transport 27
IAGP
HPO
ORPHA:110
NCBI chr22:36,758,211...36,776,119
Ensembl chr22:36,758,202...36,776,256
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IFT43
intraflagellar transport 43
IAGP
HPO
ORPHA:1515
NCBI chr14:75,985,763...76,084,073
Ensembl chr14:75,902,136...76,084,585
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IFT52
intraflagellar transport 52
IAGP
HPO
ORPHA:1515
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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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
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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
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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
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IRX5
iroquois homeobox 5
IAGP
HPO
MIM:611174
NCBI chr16:54,930,865...54,934,485
Ensembl chr16:54,930,865...54,934,485
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ITPA
inosine triphosphatase
IAGP
ClinVar Annotator: match by term: Hypodontia
ClinVar
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 PMID:34989426 More...
NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
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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
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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
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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
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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
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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
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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
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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
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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
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KMT2A
lysine methyltransferase 2A
IAGP
HPO
MIM:605130
NCBI chr11:118,436,492...118,526,832
Ensembl chr11:118,436,456...118,526,832
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KMT2D
lysine methyltransferase 2D
IAGP
HPO
ORPHA:2322
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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NFKBIA
NFKB inhibitor alpha
IAGP
HPO
MIM:612132
NCBI chr14:35,401,513...35,404,749
Ensembl chr14:35,401,079...35,404,749
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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
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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
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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
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NOP10
NOP10 ribonucleoprotein
IAGP
HPO
ORPHA:1775
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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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
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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
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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
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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
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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
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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
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NXN
nucleoredoxin
IAGP
HPO
ORPHA:1507
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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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
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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
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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
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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
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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
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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 PMID:14607846 PMID:16236760 PMID:16479262 PMID:17576681 PMID:19429910 PMID:22581971 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28910570 PMID:30417976 PMID:36071541 More...
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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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
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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
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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
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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
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POLR3K
RNA polymerase III subunit K
IAGP
HPO
MIM:619310
NCBI chr16:46,407...53,608
Ensembl chr16:46,407...53,608
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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SYNJ1
synaptojanin 1
IAGP
HPO
ORPHA:442835
NCBI chr21:32,628,759...32,728,394
Ensembl chr21:32,628,759...32,728,040
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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TYMS
thymidylate synthetase
IAGP
HPO
ORPHA:1775
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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XYLT1
xylosyltransferase 1
IAGP
HPO
MIM:615777
NCBI chr16:17,101,769...17,470,960
Ensembl chr16:17,101,769...17,470,960
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:26467025 PMID:27300758 PMID:28492532 PMID:28944238 PMID:29371908 PMID:30374176 More...
MIM:608615 ORPHA:99798
NCBI chr17:65,528,563...65,561,648
Ensembl chr17:65,528,563...65,561,648
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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
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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
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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
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CEP152
centrosomal protein 152
IAGP
HPO
MIM:613823
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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KMT2D
lysine methyltransferase 2D
IAGP
HPO
MIM:147920
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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PAX9
paired box 9
IAGP
HPO
MIM:604625
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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CEP152
centrosomal protein 152
IAGP
HPO
MIM:613823
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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EDA
ectodysplasin A
IAGP
ClinVar Annotator: match by term: Tooth agenesis, selective
ClinVar HPO
PMID:19278982 PMID:19623212 PMID:24033266 PMID:24487376 PMID:25741868 PMID:26753551 PMID:27144394 PMID:28492532 PMID:33205897 PMID:33943035 PMID:36294409 More...
MIM:313500
NCBI chr X:69,616,113...70,039,472
Ensembl chr X:69,616,067...70,039,472
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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
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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
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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
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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
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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
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ITPA
inosine triphosphatase
IAGP
ClinVar Annotator: match by term: Tooth agenesis, selective
ClinVar
PMID:25741868 PMID:26224535 PMID:28492532 PMID:30542205 PMID:30856165 PMID:34989426 More...
NCBI chr20:3,204,065...3,227,449
Ensembl chr20:3,208,868...3,223,870
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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
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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
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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
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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 PMID:14607846 PMID:16236760 PMID:16479262 PMID:17576681 PMID:19429910 PMID:22581971 PMID:25741868 PMID:28166811 PMID:28492532 PMID:28910570 PMID:30417976 PMID:36071541 More...
NCBI chr14:36,657,568...36,679,362
Ensembl chr14:36,657,568...36,679,362
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:15103725 PMID:15292211 PMID:18655123 PMID:19533790 PMID:19603532 PMID:19920144 PMID:20157829 PMID:20425842 PMID:21416594 PMID:25741868 PMID:26467025 PMID:28127823 PMID:28492532 PMID:32939873 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
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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 PMID:28492532 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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CDH11
cadherin 11
IAGP
HPO
MIM:211380
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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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
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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
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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
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DHCR7
7-dehydrocholesterol reductase
IAGP
HPO
ORPHA:818
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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KRT14
keratin 14
IAGP
HPO
ORPHA:69087
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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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
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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
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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
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NXN
nucleoredoxin
IAGP
HPO
ORPHA:1507
NCBI chr17:799,310...979,776
Ensembl chr17:799,310...979,776
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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
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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
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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
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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
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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
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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
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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
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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
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TCF12
transcription factor 12
IAGP
HPO
MIM:619718
NCBI chr15:56,918,090...57,291,310
Ensembl chr15:56,918,623...57,299,281
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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CEP152
centrosomal protein 152
IAGP
HPO
ORPHA:808
NCBI chr15:48,729,083...48,811,069
Ensembl chr15:48,712,928...48,811,146
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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
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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
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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
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CTNND1
catenin delta 1
IAGP
HPO
MIM:617681
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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CTSC
cathepsin C
IAGP
HPO
ORPHA:678
NCBI chr11:88,293,592...88,337,736
Ensembl chr11:88,265,069...88,359,684
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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
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DHCR7
7-dehydrocholesterol reductase
IAGP
HPO
ORPHA:818
NCBI chr11:71,427,287...71,449,043
Ensembl chr11:71,428,193...71,452,868
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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NUP85
nucleoporin 85
IAGP
HPO
ORPHA:808
NCBI chr17:75,205,679...75,235,758
Ensembl chr17:75,205,659...75,235,758
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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
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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
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PCNT
pericentrin
IAGP
HPO
ORPHA:2637 ORPHA:808
NCBI chr21:46,324,156...46,445,769
Ensembl chr21:46,324,124...46,445,769
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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
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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
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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
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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
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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
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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
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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
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PROKR2
prokineticin receptor 2
IAGP
HPO
ORPHA:478
NCBI chr20:5,299,218...5,316,954
Ensembl chr20:5,299,218...5,316,954
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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 PMID:23167694 PMID:23401279 PMID:23991204 PMID:24043634 PMID:24311251 PMID:24312213 PMID:24449199 PMID:24700731 PMID:25629078 PMID:25713620 PMID:25741868 PMID:26964878 PMID:27881089 PMID:28105635 PMID:28492532 PMID:28813618 PMID:28976000 PMID:29364747 PMID:29431110 PMID:30046887 PMID:30426266 PMID:30526585 PMID:30974434 PMID:33034246 PMID:34228861 PMID:35537890 PMID:36071541 More...
MIM:150400
NCBI chr 2:218,874,116...218,893,928
Ensembl chr 2:218,880,852...218,899,581
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