Disease: Pterygium ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033999
Disease: Pterygium
Pterygium 		0.020 GeneticVariation disease 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
CUI: C0033999
Disease: Pterygium
Pterygium 		0.020 GeneticVariation disease LHGDN Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. 16826531 2006