rs111966833, SPINK1

N. diseases: 8
Disease: Ataxic cerebral palsy ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Ataxic cerebral palsy
CUI: C0394005
Disease: Ataxic cerebral palsy
0.010 GeneticVariation BEFREE The P55S mutation was observed in one ICP and one ACP patient, and in three normal individuals. 15082592 2004