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: rs121964995
rs121964995
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		0.800 GeneticVariation UNIPROT 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
dbSNP: rs121964995
rs121964995
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		C 0.800 CausalMutation CLINVAR
dbSNP: rs200844390
rs200844390
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
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: rs200844390
rs200844390
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 20798123 2010
dbSNP: rs200844390
rs200844390
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 of NPHP2 and NPHP3 in infantile nephronophthisis. 19177160 2009
dbSNP: rs200844390
rs200844390
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 18076122 2008
dbSNP: rs200844390
rs200844390
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
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
dbSNP: rs121964994
rs121964994
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR
dbSNP: rs267607185
rs267607185
Entrez Id: 27130
Gene Symbol: INVS
INVS
CUI: C1865872
Disease:
NEPHRONOPHTHISIS 2 		T 0.700 CausalMutation CLINVAR