COL4A5, collagen type IV alpha 5 chain, 1287

N. diseases: 124; N. variants: 645
Disease: X-linked hydrocephalus syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104886303
rs104886303
Entrez Id: 1287
Gene Symbol: COL4A5
COL4A5
CUI: C0265216
Disease:
X-linked hydrocephalus syndrome 		0.010 GeneticVariation BEFREE The L1649R mutation in the COL4A5 gene causes a relatively mild form of XLAS characterized by late-onset renal failure and less frequent, severe temporal macular thinning relative to other COL4A5 mutations. 23572034 2013