IFT172, intraflagellar transport 172, 26160

N. diseases: 123; N. variants: 31
Disease: Blindness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0456909
Disease: Blindness
Blindness 		0.110 Biomarker phenotype BEFREE This mouse model exhibits key features of the retinal phenotype observed in patients with IFT172-associated blindness and can be used for in vivo testing of ciliopathy therapies. 29659833 2018
CUI: C0456909
Disease: Blindness
Blindness 		0.110 Biomarker phenotype HPO