Disease: Choanal Atresia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.110 GeneticVariation disease BEFREE We are reporting a new mutation in the SPINT2 gene (c.443G>A (p. Arg148His)) that explains the association of choanal atresia with congenital sodium diarrhoea (CSD) in an Emirati family in the Middle East. 28716867 2017
CUI: C0008297
Disease: Choanal Atresia
Choanal Atresia 		0.110 Biomarker disease HPO