DMD, dystrophin, 1756

N. diseases: 484; N. variants: 345
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 		0.010 GeneticVariation disease BEFREE We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. 30887870 2019