Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0497552
Disease: Congenital neurologic anomalies
Congenital neurologic anomalies
0.010 GeneticVariation group BEFREE Most patients with a detectable CHRNG mutation (21 of 24 (87.5%)) had pterygia but no CHRNG mutations were detected in the presence of central nervous system anomalies. 22167768 2012