hypodontia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A tooth disease characterized by failure to develop on or more missing teeth. (Human Disease Ontology, DOID_0050591)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000668
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Genes

57 genes associated with the hypodontia phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
ARL6 ADP-ribosylation factor-like 6
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
CEP290 centrosomal protein 290kDa
CLDN1 claudin 1
COL17A1 collagen, type XVII, alpha 1
CTSK cathepsin K
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FLNB filamin B, beta
FOXC1 forkhead box C1
IFT122 intraflagellar transport 122
IFT27 intraflagellar transport 27
IKBKG inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
IRF6 interferon regulatory factor 6
IRX5 iroquois homeobox 5
ITGB4 integrin, beta 4
KDM6A lysine (K)-specific demethylase 6A
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LZTFL1 leucine zipper transcription factor-like 1
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MSX1 msh homeobox 1
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
PORCN porcupine homolog (Drosophila)
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RBM28 RNA binding motif protein 28
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
TBX3 T-box 3
TP63 tumor protein p63
TRIM32 tripartite motif containing 32
TRIM37 tripartite motif containing 37
TTC8 tetratricopeptide repeat domain 8
WDPCP WD repeat containing planar cell polarity effector
WNT10A wingless-type MMTV integration site family, member 10A