abnormality of dental enamel Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of the dental enamel. (Human Phenotype Ontology, HP_0000682)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000682
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Genes

120 genes associated with the abnormality of dental enamel 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
AIRE autoimmune regulator
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH3A2 aldehyde dehydrogenase 3 family, member A2
AMELX amelogenin, X-linked
ANKRD11 ankyrin repeat domain 11
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ATR ATR serine/threonine kinase
ATRIP ATR interacting protein
BAZ1B bromodomain adjacent to zinc finger domain, 1B
C4ORF26 chromosome 4 open reading frame 26
CARD9 caspase recruitment domain family, member 9
CCDC8 coiled-coil domain containing 8
CDH23 cadherin-related 23
CENPJ centromere protein J
CEP152 centrosomal protein 152kDa
CHD7 chromodomain helicase DNA binding protein 7
CIB2 calcium and integrin binding family member 2
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
COL7A1 collagen, type VII, alpha 1
COMT catechol-O-methyltransferase
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CUL7 cullin 7
CYP27B1 cytochrome P450, family 27, subfamily B, polypeptide 1
DFNB31 deafness, autosomal recessive 31
DHCR7 7-dehydrocholesterol reductase
DLX3 distal-less homeobox 3
ELN elastin
ENAM enamelin
ERCC4 excision repair cross-complementation group 4
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
FLNB filamin B, beta
GALNS galactosamine (N-acetyl)-6-sulfatase
GALNT3 polypeptide N-acetylgalactosaminyltransferase 3
GCM2 glial cells missing homolog 2 (Drosophila)
GJA1 gap junction protein, alpha 1, 43kDa
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
HRAS Harvey rat sarcoma viral oncogene homolog
IFT122 intraflagellar transport 122
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IL17F interleukin 17F
IL17RA interleukin 17 receptor A
ITGA6 integrin, alpha 6
ITGB4 integrin, beta 4
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KL klotho
KLK4 kallikrein-related peptidase 4
KRT14 keratin 14, type I
KRT5 keratin 5, 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
LRP4 low density lipoprotein receptor-related protein 4
MBTPS2 membrane-bound transcription factor peptidase, site 2
MMP20 matrix metallopeptidase 20
MYO7A myosin VIIA
NF1 neurofibromin 1
OBSL1 obscurin-like 1
OCRL oculocerebrorenal syndrome of Lowe
OFD1 oral-facial-digital syndrome 1
PCDH15 protocadherin-related 15
PCNT pericentrin
PDZD7 PDZ domain containing 7
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)
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
RBBP8 retinoblastoma binding protein 8
RFC2 replication factor C (activator 1) 2, 40kDa
ROGDI rogdi homolog (Drosophila)
RUNX2 runt-related transcription factor 2
SAT1 spermidine/spermine N1-acetyltransferase 1
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SLC24A4 solute carrier family 24 (sodium/potassium/calcium exchanger), member 4
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
STAT1 signal transducer and activator of transcription 1, 91kDa
TBCE tubulin folding cofactor E
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TMEM165 transmembrane protein 165
TP63 tumor protein p63
TRAF3IP2 TRAF3 interacting protein 2
TSC1 tuberous sclerosis 1
TSC2 tuberous sclerosis 2
UFD1L ubiquitin fusion degradation 1 like (yeast)
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
WDR72 WD repeat domain 72