microdontia Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. (Human Phenotype Ontology, HP_0000691)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000691
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Genes

72 genes associated with the microdontia 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
AMELX amelogenin, X-linked
AXIN2 axin 2
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
CDH3 cadherin 3, type 1, P-cadherin (placental)
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CHSY1 chondroitin sulfate synthase 1
CLIP2 CAP-GLY domain containing linker protein 2
COL3A1 collagen, type III, alpha 1
DFNB31 deafness, autosomal recessive 31
DLX3 distal-less homeobox 3
EDA ectodysplasin A
EDA2R ectodysplasin A2 receptor
EDAR ectodysplasin A receptor
EDARADD EDAR-associated death domain
ELN elastin
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FAM20C family with sequence similarity 20, member C
FGF10 fibroblast growth factor 10
FGF3 fibroblast growth factor 3
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FGFR3 fibroblast growth factor receptor 3
FOXC1 forkhead box C1
GHR growth hormone receptor
GJA1 gap junction protein, alpha 1, 43kDa
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
IDUA iduronidase, alpha-L-
IFT122 intraflagellar transport 122
IFT43 intraflagellar transport 43
IRF6 interferon regulatory factor 6
KDM6A lysine (K)-specific demethylase 6A
KMT2D lysine (K)-specific methyltransferase 2D
LIMK1 LIM domain kinase 1
LTBP3 latent transforming growth factor beta binding protein 3
MCOLN1 mucolipin 1
MSX1 msh homeobox 1
MYO7A myosin VIIA
NOP10 NOP10 ribonucleoprotein
ORC1 origin recognition complex, subunit 1
PAX9 paired box 9
PCNT pericentrin
PDZD7 PDZ domain containing 7
PIGA phosphatidylinositol glycan anchor biosynthesis, class A
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3R1 phosphoinositide-3-kinase, regulatory subunit 1 (alpha)
PITX2 paired-like homeodomain 2
PVRL1 poliovirus receptor-related 1 (herpesvirus entry mediator C)
RBBP8 retinoblastoma binding protein 8
RECQL4 RecQ protein-like 4
RFC2 replication factor C (activator 1) 2, 40kDa
SBDS Shwachman-Bodian-Diamond syndrome
SEC23A Sec23 homolog A (S. cerevisiae)
SMARCAL1 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1
SMOC2 SPARC related modular calcium binding 2
TBL2 transducin (beta)-like 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFA transforming growth factor, alpha
TMCO1 transmembrane and coiled-coil domains 1
TNXB tenascin XB
TP63 tumor protein p63
TRPS1 trichorhinophalangeal syndrome I
UBE3B ubiquitin protein ligase E3B
UBR1 ubiquitin protein ligase E3 component n-recognin 1
USH2A Usher syndrome 2A (autosomal recessive, mild)
WDR19 WD repeat domain 19
WDR35 WD repeat domain 35
WNT10A wingless-type MMTV integration site family, member 10A