Cleft Soft Palate Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Cleft of the soft palate (also known as the velum, or muscular palate) as a result of a developmental defect occurring between the 7th and 12th week of pregnancy. Cleft soft palate can cause functional abnormalities of the Eustachian tube with resulting middle ear anomalies and hearing difficulties, as well as speech problems associated with hypernasal speech due to velopharyngeal insufficiency. (Human Phenotype Ontology, HP_0000185)
External Link https://www.disgenet.org/browser/0/1/0/C0432098
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Genes

13 genes associated with the disease Cleft Soft Palate in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
CALML3 calmodulin-like 3
COTL1 coactosin-like F-actin binding protein 1
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DDX59 DEAD (Asp-Glu-Ala-Asp) box polypeptide 59
DNAJC5 DnaJ (Hsp40) homolog, subfamily C, member 5
GRHL3 grainyhead-like 3 (Drosophila)
PLOD2 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2
SATB2 SATB homeobox 2
SLC25A19 solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19
SNRPB small nuclear ribonucleoprotein polypeptides B and B1
TCOF1 Treacher Collins-Franceschetti syndrome 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
UBB ubiquitin B