IFT57, intraflagellar transport 57, 55081

N. diseases: 31; N. variants: 1
Disease: Dwarfism ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 GeneticVariation disease BEFREE Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. 27060890 2016
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO