COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: Leiomyomatosis, esophageal and vulval, with nephropathy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1839884
Disease: Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyomatosis, esophageal and vulval, with nephropathy 		0.320 GeneticVariation disease BEFREE In the setting of a multicentric study aiming to describe the genetic epidemiology and molecular pathology of AS in Portugal, three novel COL4A5 deletions were identified in two families with x-linked Alport syndrome (ATS) and in one family with ATS-DL. 23958657 2013
CUI: C1839884
Disease: Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyomatosis, esophageal and vulval, with nephropathy 		0.320 ChromosomalRearrangement disease ORPHANET Clonal overgrowth of esophageal smooth muscle cells in diffuse leiomyomatosis-Alport syndrome caused by partial deletion in COL4A5 and COL4A6 genes. 20951201 2011
CUI: C1839884
Disease: Leiomyomatosis, esophageal and vulval, with nephropathy
Leiomyomatosis, esophageal and vulval, with nephropathy 		0.320 GeneticVariation disease BEFREE Alport syndrome and diffuse leiomyomatosis: deletions in the 5' end of the COL4A5 collagen gene. 1453602 1992