aplasia/hypoplasia of the maxilla Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the Maxilla. (Human Phenotype Ontology, HP_0009117)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0009117
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Genes

47 genes associated with the aplasia/hypoplasia of the maxilla phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ALX3 ALX homeobox 3
CDC6 cell division cycle 6
CDKL5 cyclin-dependent kinase-like 5
CDT1 chromatin licensing and DNA replication factor 1
CREBBP CREB binding protein
DCHS1 dachsous cadherin-related 1
EDA ectodysplasin A
FAT4 FAT atypical cadherin 4
FBN1 fibrillin 1
FGD1 FYVE, RhoGEF and PH domain containing 1
FGFR1 fibroblast growth factor receptor 1
FGFR2 fibroblast growth factor receptor 2
FLNB filamin B, beta
GLI2 GLI family zinc finger 2
IL11RA interleukin 11 receptor, alpha
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KDM5C lysine (K)-specific demethylase 5C
KIF1BP KIF1 binding protein
LBR lamin B receptor
MAFB v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog B
MECP2 methyl CpG binding protein 2
MED12 mediator complex subunit 12
MMP2 matrix metallopeptidase 2
ORC1 origin recognition complex, subunit 1
ORC6 origin recognition complex, subunit 6
PAX3 paired box 3
PITX2 paired-like homeodomain 2
PRKAR1A protein kinase, cAMP-dependent, regulatory, type I, alpha
PTCH1 patched 1
PTEN phosphatase and tensin homolog
RAB23 RAB23, member RAS oncogene family
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RIPK4 receptor-interacting serine-threonine kinase 4
RUNX2 runt-related transcription factor 2
SCARF2 scavenger receptor class F, member 2
SKI SKI proto-oncogene
SLC12A6 solute carrier family 12 (potassium/chloride transporter), member 6
SMAD4 SMAD family member 4
STAMBP STAM binding protein
TMCO1 transmembrane and coiled-coil domains 1
TP63 tumor protein p63
TWIST1 twist family bHLH transcription factor 1
UBE3A ubiquitin protein ligase E3A
UPF3B UPF3 regulator of nonsense transcripts homolog B (yeast)
VPS13B vacuolar protein sorting 13 homolog B (yeast)
ZBTB20 zinc finger and BTB domain containing 20