abnormality of dental structure Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the structure or composition of the teeth. (Human Phenotype Ontology, HP_0011061)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0011061
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Genes

212 genes associated with the abnormality of dental structure phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADGRV1 adhesion G protein-coupled receptor V1
AGA aspartylglucosaminidase
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
ALPL alkaline phosphatase, liver/bone/kidney
AMELX amelogenin, X-linked
ANKRD11 ankyrin repeat domain 11
AP3B1 adaptor-related protein complex 3, beta 1 subunit
APC adenomatous polyposis coli
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C12ORF57 chromosome 12 open reading frame 57
C4ORF26 chromosome 4 open reading frame 26
CA2 carbonic anhydrase II
CARD9 caspase recruitment domain family, member 9
CAV1 caveolin 1, caveolae protein, 22kDa
CCDC8 coiled-coil domain containing 8
CCR6 chemokine (C-C motif) receptor 6
CDH23 cadherin-related 23
CDH3 cadherin 3, type 1, P-cadherin (placental)
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CHD7 chromodomain helicase DNA binding protein 7
CIB2 calcium and integrin binding family member 2
CLCN7 chloride channel, voltage-sensitive 7
CLDN1 claudin 1
CLEC7A C-type lectin domain family 7, member A
CLIP2 CAP-GLY domain containing linker protein 2
CNNM4 cyclin and CBS domain divalent metal cation transport mediator 4
COG6 component of oligomeric golgi complex 6
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX1
COX2
COX3
COX4I2 cytochrome c oxidase subunit IV isoform 2 (lung)
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CRLF1 cytokine receptor-like factor 1
CTC1 CTS telomere maintenance complex component 1
CTGF connective tissue growth factor
CTSK cathepsin K
CUL7 cullin 7
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DFNB31 deafness, autosomal recessive 31
DHCR7 7-dehydrocholesterol reductase
DKC1 dyskeratosis congenita 1, dyskerin
DLX3 distal-less homeobox 3
DSPP dentin sialophosphoprotein
DST dystonin
EDA ectodysplasin A
ELANE elastase, neutrophil expressed
ELN elastin
ENAM enamelin
EP300 E1A binding protein p300
ERCC4 excision repair cross-complementation group 4
ERCC6 excision repair cross-complementation group 6
ERCC8 excision repair cross-complementation group 8
FAM20A family with sequence similarity 20, member A
FAM20C family with sequence similarity 20, member C
FAM83H family with sequence similarity 83, member H
FERMT1 fermitin family member 1
FGF10 fibroblast growth factor 10
FGF23 fibroblast growth factor 23
FGF3 fibroblast growth factor 3
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FKBP10 FK506 binding protein 10, 65 kDa
FLII flightless I homolog (Drosophila)
FLNB filamin B, beta
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GATA1 GATA binding protein 1 (globin transcription factor 1)
GCM2 glial cells missing homolog 2 (Drosophila)
GJA1 gap junction protein, alpha 1, 43kDa
GJB2 gap junction protein, beta 2, 26kDa
GJB6 gap junction protein, beta 6, 30kDa
GLB1 galactosidase, beta 1
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HCCS holocytochrome c synthase
HIRA histone cell cycle regulator
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
IRF5 interferon regulatory factor 5
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KIF7 kinesin family member 7
KL klotho
KLK4 kallikrein-related peptidase 4
KRAS Kirsten rat sarcoma viral oncogene homolog
KRT14 keratin 14, type I
KRT16 keratin 16, type I
KRT17 keratin 17, type I
KRT5 keratin 5, type II
KRT6A keratin 6A, type II
KRT6B keratin 6B, type II
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LIFR leukemia inhibitory factor receptor alpha
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MMP20 matrix metallopeptidase 20
MPLKIP M-phase specific PLK1 interacting protein
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MYO7A myosin VIIA
ND1
NDN necdin, melanoma antigen (MAGE) family member
NF1 neurofibromin 1
NHP2 NHP2 ribonucleoprotein
NOP10 NOP10 ribonucleoprotein
NTRK1 neurotrophic tyrosine kinase, receptor, type 1
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PAX1 paired box 1
PCDH15 protocadherin-related 15
PCNT pericentrin
PDZD7 PDZ domain containing 7
PEPD peptidase D
PHEX phosphate regulating endopeptidase homolog, X-linked
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PLEC plectin
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR1D polymerase (RNA) I polypeptide D, 16kDa
PORCN porcupine homolog (Drosophila)
PPIB peptidylprolyl isomerase B (cyclophilin B)
PTCH1 patched 1
PTDSS1 phosphatidylserine synthase 1
PTEN phosphatase and tensin homolog
PTH1R parathyroid hormone 1 receptor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
PVRL4 poliovirus receptor-related 4
RAI1 retinoic acid induced 1
RBBP8 retinoblastoma binding protein 8
RBM28 RNA binding motif protein 28
RFC2 replication factor C (activator 1) 2, 40kDa
ROGDI rogdi homolog (Drosophila)
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SAT1 spermidine/spermine N1-acetyltransferase 1
SBDS Shwachman-Bodian-Diamond syndrome
SEC23A Sec23 homolog A (S. cerevisiae)
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SERPINH1 serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SMOC2 SPARC related modular calcium binding 2
SNRPN small nuclear ribonucleoprotein polypeptide N
STAT1 signal transducer and activator of transcription 1, 91kDa
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCIRG1 T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
TCOF1 Treacher Collins-Franceschetti syndrome 1
TERC telomerase RNA component
TERT telomerase reverse transcriptase
TGFB1 transforming growth factor, beta 1
THOC6 THO complex 6
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TMEM165 transmembrane protein 165
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TRPS1 trichorhinophalangeal syndrome I
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UROS uroporphyrinogen III synthase
USB1 U6 snRNA biogenesis 1
USH1C Usher syndrome 1C (autosomal recessive, severe)
USH1G Usher syndrome 1G (autosomal recessive)
USH2A Usher syndrome 2A (autosomal recessive, mild)
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WDR72 WD repeat domain 72
WRAP53 WD repeat containing, antisense to TP53
ZNF469 zinc finger protein 469