COL4A3, collagen type IV alpha 3 chain, 1285

N. diseases: 119; N. variants: 129
Disease: X-linked hydrocephalus syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265216
Disease: X-linked hydrocephalus syndrome
X-linked hydrocephalus syndrome 		0.010 GeneticVariation disease BEFREE However, the effect of heterozygous mutations in COL4A3 or COL4A4 genes in X-linked Alport syndrome (XLAS) patients is unclear. 30883042 2019