INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Renal dysplasia and retinal aplasia (disorder) ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.500 GermlineCausalMutation disease ORPHANET Retinitis pigmentosa and renal failure in a patient with mutations in INVS. 16522655 2006
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.500 GermlineCausalMutation disease ORPHANET Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis. 22819833 2012
CUI: C0403553
Disease: Renal dysplasia and retinal aplasia (disorder)
Renal dysplasia and retinal aplasia (disorder) 		0.500 Biomarker disease GENOMICS_ENGLAND Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 12872123 2003