Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.030 AlteredExpression BEFREE This process is driven by TGFβ3-mediated, down-regulation of p63 in the medial edge epithelia which allows periderm migration out of the midline epithelial seam and reduces the proliferative potential of the midline epithelial seam thereby preventing cleft palate. 28803895

2019

Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.030 AlteredExpression BEFREE Subsequently, TGFβ3-induced down-regulation of p63 in the medial edge epithelia of the palatal shelves is a pre-requisite for palatal fusion by facilitating periderm migration from, and reducing the proliferative potential of, the midline epithelial seam thereby preventing cleft palate. 28604778

2017

Entrez Id: 10970
Gene Symbol: CKAP4
CKAP4
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.030 Biomarker BEFREE Here, we show that AEC p63 mutations affect the ability of the p63 protein to interact with special AT-rich binding protein-2 (SATB2), which has recently also been implicated in the development of cleft palate. p63 and SATB2 are co-expressed early in development in the ectoderm of the first and second branchial arches, two essential sites where signaling is required for craniofacial patterning. 21965674

2011