aplasia/hypoplasia of the uvula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Underdevelopment or absence of the uvula. (Human Phenotype Ontology, HP_0010293)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0010293
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Genes

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

Symbol Name
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
ERCC4 excision repair cross-complementation group 4
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
PALB2 partner and localizer of BRCA2
RAD51C RAD51 paralog C
ROR2 receptor tyrosine kinase-like orphan receptor 2
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SULF1 sulfatase 1