CILK1, ciliogenesis associated kinase 1, 22858

N. diseases: 142; N. variants: 9
Disease: Endocrine-cerebro-osteodysplasia syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4509819
Disease: Endocrine-cerebro-osteodysplasia syndrome
Endocrine-cerebro-osteodysplasia syndrome 		0.030 Biomarker disease BEFREE A Murine Model for Human ECO Syndrome Reveals a Critical Role of Intestinal Cell Kinase in Skeletal Development. 29098359 2018
CUI: C4509819
Disease: Endocrine-cerebro-osteodysplasia syndrome
Endocrine-cerebro-osteodysplasia syndrome 		0.030 GeneticVariation disease BEFREE Several missense mutations in intestinal cell kinase (ICK) gene lead to endocrine-cerebro-osteodysplasia syndrome or short rib-polydactyly syndrome, lethal recessive developmental ciliopathies. 29635032 2018
CUI: C4509819
Disease: Endocrine-cerebro-osteodysplasia syndrome
Endocrine-cerebro-osteodysplasia syndrome 		0.030 Biomarker disease BEFREE Our study identifies an essential role for ICK in lung development and advances the mechanistic understanding of ECO syndrome. 28380258 2017