Bifid Uvula Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Uvula separated into two parts most easily seen at the tip. (Human Phenotype Ontology, HP_0000193)
External Link https://www.disgenet.org/browser/0/1/0/C4551488
Similar Terms
Downloads & Tools

Genes

96 genes associated with the disease Bifid Uvula in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ALG3 ALG3, alpha-1,3- mannosyltransferase
AMER1 APC membrane recruitment protein 1
AMMECR1 Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1
ARID1A AT rich interactive domain 1A (SWI-like)
ATP6V1B2 ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2
B3GNT1
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCOR BCL6 corepressor
BGN biglycan
BIN1 bridging integrator 1
BMP4 bone morphogenetic protein 4
CDC45 cell division cycle 45
CDC6 cell division cycle 6
CDH11 cadherin 11, type 2, OB-cadherin (osteoblast)
CDT1 chromatin licensing and DNA replication factor 1
COL4A1 collagen, type IV, alpha 1
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DDX3X DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DHCR24 24-dehydrocholesterol reductase
EDN1 endothelin 1
EIF4A3 eukaryotic translation initiation factor 4A3
EPT1 ethanolaminephosphotransferase 1
EYA1 EYA transcriptional coactivator and phosphatase 1
FGF14 fibroblast growth factor 14
FGFR2 fibroblast growth factor receptor 2
FKRP fukutin related protein
FKTN fukutin
FTO fat mass and obesity associated
GLI3 GLI family zinc finger 3
GMNN geminin, DNA replication inhibitor
GNAI3 guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3
GRHL3 grainyhead-like 3 (Drosophila)
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HYAL1 hyaluronoglucosaminidase 1
HYLS1 hydrolethalus syndrome 1
IRF6 interferon regulatory factor 6
ISPD isoprenoid synthase domain containing
KAT6B K(lysine) acetyltransferase 6B
KCNH1 potassium channel, voltage gated eag related subfamily H, member 1
KIF7 kinesin family member 7
LARGE like-glycosyltransferase
NSD1 nuclear receptor binding SET domain protein 1
ORC1 origin recognition complex, subunit 1
ORC4 origin recognition complex, subunit 4
ORC6 origin recognition complex, subunit 6
PGAP2 post-GPI attachment to proteins 2
PGAP3 post-GPI attachment to proteins 3
PGM1 phosphoglucomutase 1
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIGO phosphatidylinositol glycan anchor biosynthesis, class O
PIGV phosphatidylinositol glycan anchor biosynthesis, class V
PIGW phosphatidylinositol glycan anchor biosynthesis, class W
PIGY phosphatidylinositol glycan anchor biosynthesis, class Y
PLCB4 phospholipase C, beta 4
POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
POMK protein-O-mannose kinase
POMT1 protein-O-mannosyltransferase 1
POMT2 protein-O-mannosyltransferase 2
PSAT1 phosphoserine aminotransferase 1
PTDSS1 phosphatidylserine synthase 1
RECQL4 RecQ protein-like 4
RPL5 ribosomal protein L5
RYR1 ryanodine receptor 1 (skeletal)
SETD5 SET domain containing 5
SHH sonic hedgehog
SIX1 SIX homeobox 1
SIX3 SIX homeobox 3
SLC39A13 solute carrier family 39 (zinc transporter), member 13
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMCHD1 structural maintenance of chromosomes flexible hinge domain containing 1
SMS spermine synthase
SON SON DNA binding protein
SPECC1L sperm antigen with calponin homology and coiled-coil domains 1-like
SPEG SPEG complex locus
SRCAP Snf2-related CREBBP activator protein
STAC3 SH3 and cysteine rich domain 3
TBCE tubulin folding cofactor E
TBCK TBC1 domain containing kinase
TBX1 T-box 1
TBX22 T-box 22
TCTN3 tectonic family member 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM231 transmembrane protein 231
TMEM5 transmembrane protein 5
TP63 tumor protein p63
TTC37 tetratricopeptide repeat domain 37
TTN titin
TXNL4A thioredoxin-like 4A
UBB ubiquitin B