INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.010 GeneticVariation disease BEFREE This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. 16522655 2006
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.010 GeneticVariation disease LHGDN This is the first report of the presence of RP in a patient with NPHP type 2 and INVS mutations. 16522655 2006