aplasia/hypoplasia of the tongue Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Absence or underdevelopment of the tongue. (Human Phenotype Ontology, HP_0010295)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010295
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24 genes associated with the aplasia/hypoplasia of the tongue phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
B9D1 B9 protein domain 1
B9D2 B9 protein domain 2
BMP4 bone morphogenetic protein 4
CC2D2A coiled-coil and C2 domain containing 2A
CEP290 centrosomal protein 290kDa
DHCR7 7-dehydrocholesterol reductase
ECM1 extracellular matrix protein 1
GLI3 GLI family zinc finger 3
MKS1 Meckel syndrome, type 1
NEK1 NIMA-related kinase 1
OTX2 orthodenticle homeobox 2
PRRX1 paired related homeobox 1
PTDSS1 phosphatidylserine synthase 1
RBBP8 retinoblastoma binding protein 8
RPGRIP1 retinitis pigmentosa GTPase regulator interacting protein 1
TBX15 T-box 15
TCTN2 tectonic family member 2
TMEM216 transmembrane protein 216
TMEM231 transmembrane protein 231
TMEM67 transmembrane protein 67
TRIM37 tripartite motif containing 37
VPS13B vacuolar protein sorting 13 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector