Hypodontia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0020608
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Genes

215 genes associated with the disease Hypodontia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AARS1 alanyl-tRNA synthetase 1
ACOX1 acyl-CoA oxidase 1, palmitoyl
ACTL6B actin-like 6B
ADAMTS2 ADAM metallopeptidase with thrombospondin type 1 motif, 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
ANKRD11 ankyrin repeat domain 11
AP3B2 adaptor-related protein complex 3, beta 2 subunit
APC adenomatous polyposis coli
ARHGAP15 Rho GTPase activating protein 15
ARV1 ARV1 homolog (S. cerevisiae)
ATP6V1A ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
AXIN2 axin 2
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BCL11B B-cell CLL/lymphoma 11B (zinc finger protein)
BCOR BCL6 corepressor
BMP2 bone morphogenetic protein 2
BMP4 bone morphogenetic protein 4
C8ORF37 chromosome 8 open reading frame 37
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
CACNA1B calcium channel, voltage-dependent, N type, alpha 1B subunit
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit
CALML3 calmodulin-like 3
CCBE1 collagen and calcium binding EGF domains 1
CCDC28B coiled-coil domain containing 28B
CDH1 cadherin 1, type 1, E-cadherin (epithelial)
CEP152 centrosomal protein 152kDa
CHDH choline dehydrogenase
CHSY1 chondroitin sulfate synthase 1
CLDN1 claudin 1
CLIP2 CAP-GLY domain containing linker protein 2
CLTC clathrin, heavy chain (Hc)
CNKSR2 connector enhancer of kinase suppressor of Ras 2
COL17A1 collagen, type XVII, alpha 1
COL1A2 collagen, type I, alpha 2
COTL1 coactosin-like F-actin binding protein 1
CPLX1 complexin 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTBP1 C-terminal binding protein 1
CTC1 CTS telomere maintenance complex component 1
CTSK cathepsin K
CYFIP2 cytoplasmic FMR1 interacting protein 2
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHDDS dehydrodolichyl diphosphate synthase
DKC1 dyskeratosis congenita 1, dyskerin
DKK1 dickkopf WNT signaling pathway inhibitor 1
DLX5 distal-less homeobox 5
DNM1 dynamin 1
DSP desmoplakin
DVL1 dishevelled segment polarity protein 1
DVL3 dishevelled segment polarity protein 3
DYNC2LI1 dynein, cytoplasmic 2, light intermediate chain 1
EBF3 early B-cell factor 3
EDA ectodysplasin A
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
EEF1A2 eukaryotic translation elongation factor 1 alpha 2
EGF epidermal growth factor
EGFR epidermal growth factor receptor
ELN elastin
EPHB2 EPH receptor B2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FAM20A family with sequence similarity 20, member A
FGD1 FYVE, RhoGEF and PH domain containing 1
FGF10 fibroblast growth factor 10
FGF12 fibroblast growth factor 12
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FGFRL1 fibroblast growth factor receptor-like 1
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC1 forkhead box C1
FOXP1 forkhead box P1
FZD2 frizzled class receptor 2
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2
GDF5 growth differentiation factor 5
GJB6 gap junction protein, beta 6, 30kDa
GLI1 GLI family zinc finger 1
GLI3 GLI family zinc finger 3
GREM2 gremlin 2, DAN family BMP antagonist
GRHL2 grainyhead-like 2 (Drosophila)
GRHL3 grainyhead-like 3 (Drosophila)
GRIN2D glutamate receptor, ionotropic, N-methyl D-aspartate 2D
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HAND2 heart and neural crest derivatives expressed 2
HCN1 hyperpolarization activated cyclic nucleotide gated potassium channel 1
HMGA2 high mobility group AT-hook 2
HNRNPK heterogeneous nuclear ribonucleoprotein K
HSPA9 heat shock 70kDa protein 9 (mortalin)
HUWE1 HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IFT52 intraflagellar transport 52
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
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2
KCNB1 potassium channel, voltage gated Shab related subfamily B, member 1
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDF1 keratinocyte differentiation factor 1
KDM6A lysine (K)-specific demethylase 6A
KIF1C kinesin family member 1C
KMT2D lysine (K)-specific methyltransferase 2D
KREMEN1 kringle containing transmembrane protein 1
KRT17 keratin 17, type I
LAMA3 laminin, alpha 3
LAMB3 laminin, beta 3
LAMC2 laminin, gamma 2
LEMD3 LEM domain containing 3
LETM1 leucine zipper-EF-hand containing transmembrane protein 1
LIMK1 LIM domain kinase 1
LMNA lamin A/C
LRP4 low density lipoprotein receptor-related protein 4
LRP5 low density lipoprotein receptor-related protein 5
LRP6 low density lipoprotein receptor-related protein 6
LTBP3 latent transforming growth factor beta binding protein 3
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MBTPS2 membrane-bound transcription factor peptidase, site 2
MLXIPL MLX interacting protein-like
MSX1 msh homeobox 1
MSX2 msh homeobox 2
NECAP1 NECAP endocytosis associated 1
NECTIN1 nectin cell adhesion molecule 1
NELFA negative elongation factor complex member A
NFKBIA nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha
NHLH1 nescient helix loop helix 1
NHP2 NHP2 ribonucleoprotein
NKX2-1 NK2 homeobox 1
NOL11 nucleolar protein 11
NOP10 NOP10 ribonucleoprotein
NSD1 nuclear receptor binding SET domain protein 1
NSD2 nuclear receptor binding SET domain protein 2
NTRK2 neurotrophic tyrosine kinase, receptor, type 2
NUS1 nuclear undecaprenyl pyrophosphate synthase 1 homolog (S. cerevisiae)
NXN nucleoredoxin
OFD1 oral-facial-digital syndrome 1
PARN poly(A)-specific ribonuclease
PARS2 prolyl-tRNA synthetase 2, mitochondrial (putative)
PAX9 paired box 9
PERP PERP, TP53 apoptosis effector
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PLD2 phospholipase D2
POLR1C polymerase (RNA) I polypeptide C, 30kDa
POLR3A polymerase (RNA) III (DNA directed) polypeptide A, 155kDa
POLR3B polymerase (RNA) III (DNA directed) polypeptide B
POLR3GL polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like
PORCN porcupine homolog (Drosophila)
PPP1R15B protein phosphatase 1, regulatory subunit 15B
PPP2R3C protein phosphatase 2, regulatory subunit B'', gamma
PPP3CA protein phosphatase 3, catalytic subunit, alpha isozyme
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTH1R parathyroid hormone 1 receptor
PUS7 pseudouridylate synthase 7 (putative)
RAP1A RAP1A, member of RAS oncogene family
RAP1B RAP1B, member of RAS oncogene family
RBM28 RNA binding motif protein 28
RFC2 replication factor C (activator 1) 2, 40kDa
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPS6KA3 ribosomal protein S6 kinase, 90kDa, polypeptide 3
RTEL1 regulator of telomere elongation helicase 1
RUNX2 runt-related transcription factor 2
SATB2 SATB homeobox 2
SCN3A sodium channel, voltage gated, type III alpha subunit
SCN8A sodium channel, voltage gated, type VIII alpha subunit
SH3BP2 SH3-domain binding protein 2
SLC13A5 solute carrier family 13 (sodium-dependent citrate transporter), member 5
SLC1A2 solute carrier family 1 (glial high affinity glutamate transporter), member 2
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMOC2 SPARC related modular calcium binding 2
STXBP1 syntaxin binding protein 1
SUMO1 small ubiquitin-like modifier 1
SYNGAP1 synaptic Ras GTPase activating protein 1
SYNJ1 synaptojanin 1
SZT2 seizure threshold 2 homolog (mouse)
TBL2 transducin (beta)-like 2
TBX22 T-box 22
TBX3 T-box 3
TERT telomerase reverse transcriptase
TGFA transforming growth factor, alpha
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TINF2 TERF1 (TRF1)-interacting nuclear factor 2
TP63 tumor protein p63
TRAF6 TNF receptor-associated factor 6, E3 ubiquitin protein ligase
TRAK1 trafficking protein, kinesin binding 1
TRIM37 tripartite motif containing 37
TRIO trio Rho guanine nucleotide exchange factor
TRPV3 transient receptor potential cation channel, subfamily V, member 3
TSPEAR thrombospondin-type laminin G domain and EAR repeats
UBA5 ubiquitin-like modifier activating enzyme 5
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USB1 U6 snRNA biogenesis 1
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT10A wingless-type MMTV integration site family, member 10A
WNT10B wingless-type MMTV integration site family, member 10B
WNT5A wingless-type MMTV integration site family, member 5A
WRAP53 WD repeat containing, antisense to TP53
WWOX WW domain containing oxidoreductase
XYLT1 xylosyltransferase I
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma
ZMPSTE24 zinc metallopeptidase STE24