IFT43, intraflagellar transport 43, 112752

N. diseases: 84; N. variants: 28
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693443
Disease: RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 81
0.400 GeneticVariation disease UNIPROT A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017
CUI: C4693443
Disease: RETINITIS PIGMENTOSA 81
RETINITIS PIGMENTOSA 81
0.400 GeneticVariation disease CLINVAR A mutation in IFT43 causes non-syndromic recessive retinal degeneration. 28973684 2017