abnormality of the uvula Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Abnormality of the uvula, the conic projection from the posterior edge of the middle of the soft palate. (Human Phenotype Ontology, HP_0000172)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0000172
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48 genes associated with the abnormality of the uvula phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCOR BCL6 corepressor
BMP4 bone morphogenetic protein 4
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
COL11A1 collagen, type XI, alpha 1
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
EDN1 endothelin 1
EIF4A3 eukaryotic translation initiation factor 4A3
ERCC4 excision repair cross-complementation group 4
EYA1 EYA transcriptional coactivator and phosphatase 1
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
FGFR2 fibroblast growth factor receptor 2
FTO fat mass and obesity associated
HYAL1 hyaluronoglucosaminidase 1
IRF6 interferon regulatory factor 6
PALB2 partner and localizer of BRCA2
PGM1 phosphoglucomutase 1
PIEZO2 piezo-type mechanosensitive ion channel component 2
RAD51C RAD51 paralog C
RECQL4 RecQ protein-like 4
ROR2 receptor tyrosine kinase-like orphan receptor 2
SEC23A Sec23 homolog A (S. cerevisiae)
SIX3 SIX homeobox 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SLCO5A1 solute carrier organic anion transporter family, member 5A1
SLX4 SLX4 structure-specific endonuclease subunit
SMS spermine synthase
SULF1 sulfatase 1
TBCE tubulin folding cofactor E
TBX1 T-box 1
TBX22 T-box 22
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TP63 tumor protein p63
TTC37 tetratricopeptide repeat domain 37