INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: NEPHRONOPHTHISIS 2 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs753348470
rs753348470
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
dbSNP: rs753348470
rs753348470
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 19177160 2009
dbSNP: rs753348470
rs753348470
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR 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