rs118203918, CILK1

N. diseases: 6
Disease: Endocrine-cerebro-osteodysplasia syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Endocrine-cerebro-osteodysplasia syndrome
CUI: C4509819
Disease: Endocrine-cerebro-osteodysplasia syndrome
0.010 GeneticVariation BEFREE An autosomal-recessive inactivating mutation R272Q in the human intestinal cell kinase (ICK) gene caused profound multiplex developmental defects in human endocrine-cerebro-osteodysplasia (ECO) syndrome. 29098359 2018