Term: Carious teeth
Accession: HP:0000670
browse the term
Definition: Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Comment: It should be noted that it is not always possible to rule out environmental influences and that reports of association between hereditary diseases and susceptibility to dental caries should be regarded with caution.
Synonyms: exact_synonym: Caries; Cariosity of teeth; Dental caries; Dental cavities; Early dental caries; Frequent caries; Tooth cavities; Tooth decay
related_synonym: Dental decay; Rotting teeth
alt_id: HP:0006295; HP:0006306
xref: EFO:0003819 ; MESH:D003731 ; SNOMEDCT_US:80967001; UMLS:C0011334; UMLS:C4280623
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AARS1
alanyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr16:70,252,298...70,289,506
Ensembl chr16:70,251,983...70,289,707
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ABL1
ABL proto-oncogene 1, non-receptor tyrosine kinase
IAGP
HPO
OMIM:617602
NCBI chr 9:130,713,043...130,887,675
Ensembl chr 9:130,713,043...130,887,675
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ACP4
acid phosphatase 4
IAGP
HPO
OMIM:617297
NCBI chr19:50,790,415...50,795,219
Ensembl chr19:50,790,415...50,795,219
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ADGRV1
adhesion G protein-coupled receptor V1
IAGP
HPO
ORPHA:231178
NCBI chr 5:90,558,797...91,164,437
Ensembl chr 5:90,529,344...91,164,437
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ADNP
activity dependent neuroprotector homeobox
IAGP
HPO
OMIM:615873
NCBI chr20:50,888,918...50,931,437
Ensembl chr20:50,888,916...50,931,437
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AGA
aspartylglucosaminidase
IAGP
HPO
ORPHA:93
NCBI chr 4:177,430,774...177,442,437
Ensembl chr 4:177,430,774...177,442,437
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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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ALPL
alkaline phosphatase, biomineralization associated
IAGP
HPO
OMIM:146300 OMIM:241510
NCBI chr 1:21,508,984...21,578,410
Ensembl chr 1:21,509,397...21,578,410
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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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AP3B1
adaptor related protein complex 3 subunit beta 1
IAGP
HPO
OMIM:608233
NCBI chr 5:78,000,522...78,294,698
Ensembl chr 5:78,000,522...78,294,762
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APC
APC regulator of WNT signaling pathway
IAGP
HPO
OMIM:175100
NCBI chr 5:112,707,498...112,846,239
Ensembl chr 5:112,707,518...112,846,239
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ARSB
arylsulfatase B
IAGP
HPO
OMIM:253200
NCBI chr 5:78,777,209...78,985,958
Ensembl chr 5:78,777,209...78,986,087
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ARVCF
ARVCF delta catenin family member
IAGP
HPO
ORPHA:567
NCBI chr22:19,965,134...20,016,823
Ensembl chr22:19,969,896...20,016,823
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ATP2B3
ATPase plasma membrane Ca2+ transporting 3
IAGP
ClinVar Annotator: match by term: Tooth decay
ClinVar
PMID:25741868
NCBI chr X:153,517,642...153,582,929
Ensembl chr X:153,517,642...153,582,939
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ATP6V0A2
ATPase H+ transporting V0 subunit a2
IAGP
HPO
OMIM:219200 OMIM:278250 ORPHA:2834 ORPHA:357074
NCBI chr12:123,712,353...123,761,755
Ensembl chr12:123,712,353...123,761,755
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ATP6V1A
ATPase H+ transporting V1 subunit A
IAGP
HPO
ORPHA:357074
NCBI chr 3:113,747,035...113,812,056
Ensembl chr 3:113,746,770...113,812,056
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ATP6V1E1
ATPase H+ transporting V1 subunit E1
IAGP
HPO
ORPHA:357074
NCBI chr22:17,592,136...17,628,822
Ensembl chr22:17,592,136...17,628,749
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ATR
ATR serine/threonine kinase
IAGP
HPO
OMIM:614564
NCBI chr 3:142,449,235...142,578,733
Ensembl chr 3:142,449,007...142,578,733
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B3GALT6
beta-1,3-galactosyltransferase 6
IAGP
HPO
ORPHA:536467
NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041
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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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BCL7B
BAF chromatin remodeling complex subunit BCL7B
IAGP
HPO
ORPHA:904
NCBI chr 7:73,536,356...73,557,690
Ensembl chr 7:73,536,356...73,557,690
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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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CARS1
cysteinyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr11:3,000,929...3,057,423
Ensembl chr11:3,000,922...3,057,613
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CAV1
caveolin 1
IAGP
HPO
ORPHA:220393
NCBI chr 7:116,525,009...116,561,185
Ensembl chr 7:116,524,994...116,561,179
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CCN2
cellular communication network factor 2
IAGP
HPO
ORPHA:220393
NCBI chr 6:131,948,176...131,951,372
Ensembl chr 6:131,948,176...131,951,372
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CCR6
C-C motif chemokine receptor 6
IAGP
HPO
ORPHA:220393
NCBI chr 6:167,111,795...167,139,141
Ensembl chr 6:167,111,807...167,139,141
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CDH1
cadherin 1
IAGP
HPO
ORPHA:1997
NCBI chr16:68,737,292...68,835,537
Ensembl chr16:68,737,292...68,835,537
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CDH11
cadherin 11
IAGP
HPO
ORPHA:1299
NCBI chr16:64,943,753...65,123,744
Ensembl chr16:64,943,753...65,126,112
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CDH3
cadherin 3
IAGP
HPO
ORPHA:1897
NCBI chr16:68,645,310...68,733,771
Ensembl chr16:68,636,189...68,727,468
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CLCN7
chloride voltage-gated channel 7
IAGP
HPO
ORPHA:53
NCBI chr16:1,444,935...1,475,028
Ensembl chr16:1,444,934...1,475,077
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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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CNNM4
cyclin and CBS domain divalent metal cation transport mediator 4
IAGP
HPO
OMIM:217080
NCBI chr 2:96,760,902...96,811,874
Ensembl chr 2:96,760,902...96,811,874
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COG6
component of oligomeric golgi complex 6
IAGP
HPO
OMIM:615328 ORPHA:363523
NCBI chr13:39,655,627...39,791,666
Ensembl chr13:39,655,627...39,791,665
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COL17A1
collagen type XVII alpha 1 chain
IAGP
HPO
OMIM:619787 ORPHA:79406
NCBI chr10:104,031,286...104,085,880
Ensembl chr10:104,031,286...104,085,880
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COL2A1
collagen type II alpha 1 chain
IAGP
HPO
ORPHA:93346
NCBI chr12:47,972,967...48,006,212
Ensembl chr12:47,972,967...48,004,554
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COL3A1
collagen type III alpha 1 chain
IAGP
HPO
ORPHA:286
NCBI chr 2:188,974,373...189,012,746
Ensembl chr 2:188,974,373...189,012,746
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COL7A1
collagen type VII alpha 1 chain
IAGP
HPO
ORPHA:79408 ORPHA:79409 ORPHA:79410 ORPHA:79411 ORPHA:89842
NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329
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COMT
catechol-O-methyltransferase
IAGP
HPO
ORPHA:567
NCBI chr22:19,941,772...19,969,975
Ensembl chr22:19,941,371...19,969,975
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COX4I2
cytochrome c oxidase subunit 4I2
IAGP
HPO
OMIM:612714
NCBI chr20:31,637,912...31,645,006
Ensembl chr20:31,637,912...31,645,006
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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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CRLF1
cytokine receptor like factor 1
IAGP
HPO
OMIM:272430
NCBI chr19:18,593,237...18,606,799
Ensembl chr19:18,572,220...18,607,741
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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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CTNND1
catenin delta 1
IAGP
HPO
ORPHA:1997
NCBI chr11:57,761,802...57,819,540
Ensembl chr11:57,753,243...57,819,546
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CTSK
cathepsin K
IAGP
HPO
OMIM: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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DKC1
dyskerin pseudouridine synthase 1
IAGP
HPO
OMIM:305000 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
ORPHA:811
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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DPH5
diphthamide biosynthesis 5
IAGP
HPO
OMIM:620070
NCBI chr 1:100,989,623...101,025,784
Ensembl chr 1:100,989,623...101,026,088
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EFL1
elongation factor like GTPase 1
IAGP
HPO
ORPHA:811
NCBI chr15:82,130,233...82,262,734
Ensembl chr15:82,130,206...82,262,773
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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
ORPHA:904
NCBI chr 7:74,028,173...74,069,907
Ensembl chr 7:74,027,789...74,069,907
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ENPP1
ectonucleotide pyrophosphatase/phosphodiesterase 1
IAGP
HPO
OMIM:613312
NCBI chr 6:131,808,020...131,895,155
Ensembl chr 6:131,808,016...131,895,155
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EP300
E1A binding protein p300
IAGP
HPO
OMIM:613684 ORPHA:353284
NCBI chr22:41,092,592...41,180,077
Ensembl chr22:41,092,510...41,180,077
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ERCC2
ERCC excision repair 2, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr19:45,349,837...45,370,573
Ensembl chr19:45,349,837...45,370,918
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ERCC3
ERCC excision repair 3, TFIIH core complex helicase subunit
IAGP
HPO
ORPHA:33364
NCBI chr 2:127,257,290...127,294,144
Ensembl chr 2:127,257,290...127,294,166
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ERCC6
ERCC excision repair 6, chromatin remodeling factor
IAGP
HPO
OMIM:133540 OMIM:214150 ORPHA:90324
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
OMIM:216400 ORPHA:90324
NCBI chr 5:60,866,454...60,945,070
Ensembl chr 5:60,866,454...60,945,073
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FAM111A
FAM111 trypsin like peptidase A
IAGP
HPO
ORPHA:93325
NCBI chr11:59,142,856...59,155,039
Ensembl chr11:59,142,748...59,155,039
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FERMT1
FERM domain containing kindlin 1
IAGP
HPO
OMIM:173650 ORPHA:2908
NCBI chr20:6,074,845...6,123,030
Ensembl chr20:6,074,845...6,123,214
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FGF10
fibroblast growth factor 10
IAGP
HPO
OMIM:180920 OMIM:620193 ORPHA:2363
NCBI chr 5:44,300,247...44,389,420
Ensembl chr 5:44,300,247...44,389,706
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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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FGFR2
fibroblast growth factor receptor 2
IAGP
HPO
OMIM: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
OMIM: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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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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GALNS
galactosamine (N-acetyl)-6-sulfatase
IAGP
HPO
OMIM:253000
NCBI chr16:88,813,734...88,856,947
Ensembl chr16:88,813,734...88,856,970
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GJA1
gap junction protein alpha 1
IAGP
HPO
OMIM:164200 ORPHA:2710
NCBI chr 6:121,435,646...121,449,727
Ensembl chr 6:121,435,595...121,449,727
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GLB1
galactosidase beta 1
IAGP
HPO
OMIM:253010
NCBI chr 3:32,961,108...33,097,146
Ensembl chr 3:32,996,609...33,097,202
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GP1BB
glycoprotein Ib platelet subunit beta
IAGP
HPO
ORPHA:567
NCBI chr22:19,723,539...19,724,771
Ensembl chr22:19,723,539...19,724,771
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GTF2E2
general transcription factor IIE subunit 2
IAGP
HPO
ORPHA:33364
NCBI chr 8:30,578,318...30,658,236
Ensembl chr 8:30,578,318...30,658,236
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GTF2H5
general transcription factor IIH subunit 5
IAGP
HPO
OMIM:616395 ORPHA:33364
NCBI chr 6:158,168,350...158,199,344
Ensembl chr 6:158,168,350...158,199,344
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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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HERC2
HECT and RLD domain containing E3 ubiquitin protein ligase 2
IAGP
HPO
OMIM:176270
NCBI chr15:28,111,040...28,322,179
Ensembl chr15:28,111,040...28,322,179
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HIRA
histone cell cycle regulator
IAGP
HPO
ORPHA:567
NCBI chr22:19,330,698...19,431,733
Ensembl chr22:19,330,698...19,447,450
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HLA-DRB1
major histocompatibility complex, class II, DR beta 1
IAGP
HPO
ORPHA:220393
NCBI chr 6:32,578,775...32,589,848
Ensembl chr 6:32,577,902...32,589,848
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IFIH1
interferon induced with helicase C domain 1
IAGP
HPO
OMIM:182250
NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684
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IFT52
intraflagellar transport 52
IAGP
HPO
OMIM:617102
NCBI chr20:43,590,937...43,647,299
Ensembl chr20:43,590,937...43,647,299
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IPW
imprinted in Prader-Willi syndrome
IAGP
HPO
OMIM:176270
NCBI chr15:25,116,545...25,122,476
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IRF5
interferon regulatory factor 5
IAGP
HPO
ORPHA:220393
NCBI chr 7:128,937,032...128,950,038
Ensembl chr 7:128,937,457...128,950,038
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JMJD1C
jumonji domain containing 1C
IAGP
HPO
ORPHA:567
NCBI chr10:63,167,225...63,521,890
Ensembl chr10:63,167,221...63,521,850
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KLK4
kallikrein related peptidase 4
IAGP
HPO
OMIM:204700
NCBI chr19:50,906,351...50,911,395
Ensembl chr19:50,906,351...50,911,395
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KMT2D
lysine methyltransferase 2D
IAGP
HPO
OMIM:620186
NCBI chr12:49,018,978...49,060,794
Ensembl chr12:49,018,975...49,060,794
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KRT14
keratin 14
IAGP
HPO
OMIM:161000 ORPHA:69087
NCBI chr17:41,582,279...41,586,895
Ensembl chr17:41,582,279...41,586,895
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LAMA3
laminin subunit alpha 3
IAGP
HPO
OMIM:226700
NCBI chr18:23,689,453...23,955,066
Ensembl chr18:23,689,453...23,956,222
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LAMB3
laminin subunit beta 3
IAGP
HPO
OMIM:226650 OMIM:226700
NCBI chr 1:209,614,870...209,652,425
Ensembl chr 1:209,614,870...209,652,425
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LAMC2
laminin subunit gamma 2
IAGP
HPO
OMIM:226700
NCBI chr 1:183,186,264...183,258,968
Ensembl chr 1:183,186,238...183,245,127
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LIFR
LIF receptor subunit alpha
IAGP
HPO
OMIM:601559
NCBI chr 5:38,474,668...38,608,403
Ensembl chr 5:38,474,668...38,608,354
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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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MAGEL2
MAGE family member L2
IAGP
HPO
OMIM:176270
NCBI chr15:23,643,549...23,647,867
Ensembl chr15:23,643,549...23,647,867
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MAPRE2
microtubule associated protein RP/EB family member 2
IAGP
HPO
OMIM:616734
NCBI chr18:34,977,027...35,143,470
Ensembl chr18:34,976,928...35,143,470
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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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MEGF8
multiple EGF like domains 8
IAGP
HPO
OMIM:614976
NCBI chr19:42,325,635...42,378,765
Ensembl chr19:42,325,609...42,378,769
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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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MKRN3
makorin ring finger protein 3
IAGP
HPO
OMIM:176270
NCBI chr15:23,565,674...23,568,044
Ensembl chr15:23,565,674...23,630,075
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MKRN3-AS1
MKRN3 antisense RNA 1
IAGP
HPO
OMIM:176270
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MLXIPL
MLX interacting protein like
IAGP
HPO
ORPHA:904
NCBI chr 7:73,593,202...73,647,907
Ensembl chr 7:73,593,194...73,624,543
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MMP1
matrix metallopeptidase 1
IAGP
HPO
ORPHA:79408
NCBI chr11:102,789,919...102,798,160
Ensembl chr11:102,789,401...102,798,160
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MMP13
matrix metallopeptidase 13
IAGP
HPO
ORPHA:2501
NCBI chr11:102,942,995...102,955,732
Ensembl chr11:102,942,995...102,955,732
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MPLKIP
M-phase specific PLK1 interacting protein
IAGP
HPO
ORPHA:33364
NCBI chr 7:40,126,027...40,134,622
Ensembl chr 7:40,126,027...40,134,622
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MYO7A
myosin VIIA
IAGP
HPO
ORPHA:231178
NCBI chr11:77,128,246...77,215,241
Ensembl chr11:77,128,246...77,215,241
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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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NECTIN1
nectin cell adhesion molecule 1
IAGP
HPO
ORPHA:3253
NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200
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NHP2
NHP2 ribonucleoprotein
IAGP
HPO
OMIM:224230 ORPHA:1775
NCBI chr 5:178,149,463...178,153,885
Ensembl chr 5:178,149,463...178,153,894
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NOP10
NOP10 ribonucleoprotein
IAGP
HPO
OMIM:224230 ORPHA:1775
NCBI chr15:34,341,719...34,343,136
Ensembl chr15:34,339,159...34,343,180
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NPAP1
nuclear pore associated protein 1
IAGP
HPO
OMIM:176270
NCBI chr15:24,675,775...24,683,393
Ensembl chr15:24,675,775...24,683,393
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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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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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OFD1
OFD1 centriole and centriolar satellite protein
IAGP
HPO
OMIM:311200
NCBI chr X:13,714,505...13,773,738
Ensembl chr X:13,734,743...13,777,955
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PARN
poly(A)-specific ribonuclease
IAGP
HPO
OMIM:616353 ORPHA:1775
NCBI chr16:14,435,701...14,630,260
Ensembl chr16:14,435,700...14,632,728
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PAX1
paired box 1
IAGP
HPO
OMIM:615560
NCBI chr20:21,705,664...21,718,481
Ensembl chr20:21,705,659...21,718,481
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PDZD7
PDZ domain containing 7
IAGP
HPO
ORPHA:231178
NCBI chr10:101,007,679...101,031,129
Ensembl chr10:101,007,679...101,032,295
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PEPD
peptidase D
IAGP
HPO
ORPHA:742
NCBI chr19:33,386,950...33,521,791
Ensembl chr19:33,386,950...33,521,823
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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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PGM2L1
phosphoglucomutase 2 like 1
IAGP
HPO
OMIM:620191
NCBI chr11:74,330,316...74,398,433
Ensembl chr11:74,330,316...74,398,433
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PKP1
plakophilin 1
IAGP
HPO
ORPHA:158668
NCBI chr 1:201,283,506...201,332,989
Ensembl chr 1:201,283,452...201,332,993
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PLEC
plectin
IAGP
HPO
OMIM:226670
NCBI chr 8:143,915,153...143,976,745
Ensembl chr 8:143,915,153...143,976,734
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PPP1CB
protein phosphatase 1 catalytic subunit beta
IAGP
HPO
ORPHA:2701
NCBI chr 2:28,751,604...28,802,940
Ensembl chr 2:28,751,640...28,802,940
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PTCH1
patched 1
IAGP
HPO
ORPHA:377
NCBI chr 9:95,442,980...95,516,971
Ensembl chr 9:95,442,980...95,517,057
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PTCH2
patched 2
IAGP
HPO
ORPHA:377
NCBI chr 1:44,819,845...44,843,253
Ensembl chr 1:44,819,844...44,843,253
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PTEN
phosphatase and tensin homolog
IAGP
HPO
ORPHA:744
NCBI chr10:87,863,625...87,971,930
Ensembl chr10:87,862,638...87,971,930
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PWAR1
Prader Willi/Angelman region RNA 1
IAGP
HPO
OMIM:176270
NCBI chr15:25,135,642...25,138,053
Ensembl chr15:25,135,642...25,138,055
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PWRN1
Prader-Willi region non-protein coding RNA 1
IAGP
HPO
OMIM:176270
NCBI chr15:24,558,157...24,587,780
Ensembl chr15:24,101,827...24,823,365
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RBM28
RNA binding motif protein 28
IAGP
HPO
OMIM: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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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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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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RNF113A
ring finger protein 113A
IAGP
HPO
ORPHA:33364
NCBI chr X:119,870,475...119,871,733
Ensembl chr X:119,870,475...119,871,733
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RREB1
ras responsive element binding protein 1
IAGP
HPO
ORPHA:567
NCBI chr 6:7,107,743...7,251,980
Ensembl chr 6:7,107,597...7,251,980
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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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RUNX2
RUNX family transcription factor 2
IAGP
HPO
ORPHA:1452
NCBI chr 6:45,328,330...45,551,082
Ensembl chr 6:45,328,157...45,664,349
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SATB1
SATB homeobox 1
IAGP
HPO
OMIM:619229
NCBI chr 3:18,345,377...18,445,592
Ensembl chr 3:18,345,377...18,445,621
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SBDS
SBDS ribosome maturation factor
IAGP
HPO
ORPHA:811
NCBI chr 7:66,987,680...66,995,586
Ensembl chr 7:66,987,680...66,995,693
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SCNM1
sodium channel modifier 1
IAGP
HPO
OMIM:620107
NCBI chr 1:151,166,144...151,170,296
Ensembl chr 1:151,156,664...151,170,296
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SEC23A
SEC23 homolog A, COPII coat complex component
IAGP
HPO
OMIM:607812 ORPHA:50814
NCBI chr14:39,031,919...39,103,235
Ensembl chr14:39,031,919...39,109,646
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SEC24C
SEC24 homolog C, COPII coat complex component
IAGP
HPO
ORPHA:567
NCBI chr10:73,744,372...73,772,161
Ensembl chr10:73,744,372...73,772,161
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SFRP4
secreted frizzled related protein 4
IAGP
HPO
OMIM:265900
NCBI chr 7:37,905,932...37,916,817
Ensembl chr 7:37,905,932...38,025,695
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SGMS2
sphingomyelin synthase 2
IAGP
HPO
OMIM:126550
NCBI chr 4:107,824,563...107,915,047
Ensembl chr 4:107,824,563...107,915,047
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SHOC2
SHOC2 leucine rich repeat scaffold protein
IAGP
HPO
ORPHA:2701
NCBI chr10:110,919,370...111,013,665
Ensembl chr10:110,919,367...111,017,307
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SLC10A7
solute carrier family 10 member 7
IAGP
HPO
OMIM:618363
NCBI chr 4:146,253,981...146,521,940
Ensembl chr 4:146,253,975...146,522,372
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SLC19A1
solute carrier family 19 member 1
IAGP
HPO
OMIM:620603
NCBI chr21:45,502,517...45,563,025
Ensembl chr21:45,493,572...45,573,365
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SLC24A4
solute carrier family 24 member 4
IAGP
HPO
OMIM:615887
NCBI chr14:92,322,581...92,501,481
Ensembl chr14:92,322,581...92,501,481
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SLC37A4
solute carrier family 37 member 4
IAGP
HPO
ORPHA:79259
NCBI chr11:119,024,112...119,030,877
Ensembl chr11:119,023,751...119,030,906
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SLF2
SMC5-SMC6 complex localization factor 2
IAGP
HPO
OMIM:620184
NCBI chr10:100,912,963...100,965,134
Ensembl chr10:100,912,963...100,965,134
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SNORD115-1
small nucleolar RNA, C/D box 115-1
IAGP
HPO
OMIM:176270
NCBI chr15:25,170,723...25,170,804
Ensembl chr15:25,170,723...25,170,804
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SNORD116-1
small nucleolar RNA, C/D box 116-1
IAGP
HPO
OMIM:176270
NCBI chr15:25,051,476...25,051,572
Ensembl chr15:25,051,477...25,051,571
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SNRPB
small nuclear ribonucleoprotein polypeptides B and B1
IAGP
HPO
OMIM:117650
NCBI chr20:2,461,642...2,470,789
Ensembl chr20:2,461,634...2,470,853
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SNRPN
small nuclear ribonucleoprotein polypeptide N
IAGP
HPO
ORPHA:177907
NCBI chr15:24,823,637...24,978,723
Ensembl chr15:24,823,637...24,978,723
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SOX9
SRY-box transcription factor 9
IAGP
HPO
OMIM:114290
NCBI chr17:72,121,020...72,126,416
Ensembl chr17:72,121,020...72,126,416
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SRCAP
Snf2 related CREBBP activator protein
IAGP
HPO
OMIM:136140 ORPHA:2044
NCBI chr16:30,699,171...30,741,409
Ensembl chr16:30,698,209...30,741,409
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SRP54
signal recognition particle 54
IAGP
HPO
ORPHA:811
NCBI chr14:34,982,992...35,029,567
Ensembl chr14:34,981,957...35,029,686
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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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SUFU
SUFU negative regulator of hedgehog signaling
IAGP
HPO
ORPHA:377
NCBI chr10:102,502,819...102,633,535
Ensembl chr10:102,503,972...102,633,535
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TARS1
threonyl-tRNA synthetase 1
IAGP
HPO
ORPHA:33364
NCBI chr 5:33,440,696...33,468,091
Ensembl chr 5:33,440,696...33,468,091
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TBCE
tubulin folding cofactor E
IAGP
HPO
OMIM:244460 ORPHA:93324
NCBI chr 1:235,367,427...235,452,443
Ensembl chr 1:235,367,360...235,452,443
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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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TBX1
T-box transcription factor 1
IAGP
HPO
ORPHA:567
NCBI chr22:19,756,703...19,783,593
Ensembl chr22:19,756,703...19,783,593
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TCIRG1
T cell immune regulator 1, ATPase H+ transporting V0 subunit a3
IAGP
HPO
OMIM:259700
NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895
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TERC
telomerase RNA component
IAGP
HPO
OMIM:127550 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
OMIM:127550 ORPHA:1775
NCBI chr 5:1,253,167...1,295,068
Ensembl chr 5:1,253,147...1,295,068
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TGFB1
transforming growth factor beta 1
IAGP
HPO
OMIM:131300 ORPHA:1328
NCBI chr19:41,330,323...41,353,922
Ensembl chr19:41,301,587...41,353,922
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THOC6
THO complex subunit 6
IAGP
HPO
OMIM:613680 ORPHA:363444
NCBI chr16:3,024,035...3,027,750
Ensembl chr16:3,024,027...3,027,755
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TINF2
TERF1 interacting nuclear factor 2
IAGP
HPO
OMIM:127550 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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TNFSF11
TNF superfamily member 11
IAGP
HPO
OMIM:259710
NCBI chr13:42,562,736...42,608,013
Ensembl chr13:42,562,736...42,608,013
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TP63
tumor protein p63
IAGP
HPO
OMIM:129400 OMIM:604292 ORPHA:1896
NCBI chr 3:189,596,746...189,897,276
Ensembl chr 3:189,631,389...189,897,276
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TRPS1
transcriptional repressor GATA binding 1
IAGP
HPO
OMIM:190350
NCBI chr 8:115,408,496...115,668,975
Ensembl chr 8:115,408,496...115,809,673
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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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TYMS
thymidylate synthetase
IAGP
HPO
ORPHA:1775
NCBI chr18:657,653...673,578
Ensembl chr18:657,653...673,578
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UBE3B
ubiquitin protein ligase E3B
IAGP
HPO
OMIM:244450
NCBI chr12:109,477,634...109,547,829
Ensembl chr12:109,477,402...109,536,705
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UFD1
ubiquitin recognition factor in ER associated degradation 1
IAGP
HPO
ORPHA:567
NCBI chr22:19,449,911...19,479,193
Ensembl chr22:19,449,911...19,479,202
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USB1
U6 snRNA biogenesis phosphodiesterase 1
IAGP
HPO
OMIM:604173 ORPHA:1775
NCBI chr16:57,999,603...58,021,618
Ensembl chr16:57,999,546...58,021,618
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USH2A
usherin
IAGP
HPO
ORPHA:231178
NCBI chr 1:215,622,891...216,423,448
Ensembl chr 1:215,622,891...216,423,448
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VDR
vitamin D receptor
IAGP
HPO
OMIM:277440
NCBI chr12:47,841,537...47,904,994
Ensembl chr12:47,841,537...47,943,048
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VPS13B
vacuolar protein sorting 13 homolog B
IAGP
ClinVar Annotator: match by term: Dental caries
ClinVar
PMID:15173253 PMID:25741868
NCBI chr 8:99,013,274...99,877,580
Ensembl chr 8:99,013,266...99,877,580
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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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WHRN
whirlin
IAGP
HPO
ORPHA:231178
NCBI chr 9:114,402,080...114,505,473
Ensembl chr 9:114,402,080...114,505,473
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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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ZMYM2
zinc finger MYM-type containing 2
IAGP
HPO
OMIM:619522
NCBI chr13:19,863,840...20,089,115
Ensembl chr13:19,958,677...20,091,829
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