Disease: Alport Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 GeneticVariation disease BEFREE Alport syndrome with intellectual disability (ID) is a contiguous gene deletion syndrome involving several genes on Xq22.3 including COL4A5 and ACSL4. 20186809 2010
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 GeneticVariation disease BEFREE While the Alport syndrome is due to deletion of the COL4A5 gene, no other genes are known in the region with the exception of our recent finding of the FACL4 gene. 10049589 1999
CUI: C1567741
Disease: Alport Syndrome
Alport Syndrome 		0.030 Biomarker disease BEFREE FACL4, a new gene encoding long-chain acyl-CoA synthetase 4, is deleted in a family with Alport syndrome, elliptocytosis, and mental retardation. 9480748 1998