rs118203918, CILK1

N. diseases: 6
Disease: Polydactyly ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polydactyly
CUI: C0152427
Disease: Polydactyly
0.010 GeneticVariation BEFREE Ick R272Q knock-in transgenic mouse model not only recapitulated major ECO skeletal defects such as short limbs and polydactyly but also revealed a deformed spine with defective intervertebral disk. 29098359 2018