IFT122, intraflagellar transport 122, 55764

N. diseases: 135; N. variants: 14
Disease: Spastic paraplegia 4, autosomal dominant ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1866855
Disease: Spastic paraplegia 4, autosomal dominant
Spastic paraplegia 4, autosomal dominant 		0.010 GeneticVariation disease BEFREE Spastic paraplegia type 4 (SPG4) is the most common autosomal dominant hereditary SPG caused by mutations in the SPAST gene. 20857310 2011