Disease: Visual impairment and blindness (excl colour blindness) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0852384
Disease: Visual impairment and blindness (excl colour blindness)
Visual impairment and blindness (excl colour blindness) 		0.010 GeneticVariation phenotype BEFREE Significantly, more than 60 point mutations within the TGFBI gene have been reported to result in aberrant TGFBIp folding and aggregation in the cornea, resulting in severe visual impairment and blindness. 29117645 2018