CILK1, ciliogenesis associated kinase 1, 22858

N. diseases: 142; N. variants: 9
Disease: Developmental Disabilities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 GeneticVariation group BEFREE Human endocrine-cerebro-osteodysplasia (ECO) syndrome, caused by the loss-of-function mutation R272Q in the intestinal cell kinase (ICK) gene, is a neonatal-lethal developmental disorder. 28380258 2017
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		0.020 Biomarker group BEFREE ECO is a rare multi-system developmental disorder caused by a homozygous mutation in ICK encoding intestinal cell kinase. 21980446 2011