Disease: Abnormal renal morphology ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		0.020 GeneticVariation disease BEFREE Mutations in SIX1 and in its co-factor, EYA1, underlie Branchiootorenal Spectrum disorder (BOS), which is characterized by variable branchial arch, otic and kidney malformations. 27940157 2017
CUI: C4551596
Disease: Abnormal renal morphology
Abnormal renal morphology 		0.020 GeneticVariation disease BEFREE By WES and filtering with a mining tool, a novel FBN1 missense variant was found in patient 1 and his mother, who both showed clinical features of Marfan syndrome by thorough anthropometric assessment, and a novel EYA1 missense variant as a probable cause of the renal malformation in the patient. 23552953 2013