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: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GeneticVariation disease BEFREE Novel splice site and nonsense variants in INVS cause infantile nephronophthisis. 31706999 2020
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease BEFREE Inversion of embryonic turning (inv) cystic mice develop multiple renal cysts and are a model for type II nephronophthisis (NPHP2). 29889867 2018
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 AlteredExpression disease BEFREE Together these results suggest that loss of inversin decreases Na<sup>+</sup> transport via ENaC, mediated in part by transcriptional and posttranslational regulation of Crtc2/Sgk1/Nedd4l axis as a contributory mechanism for enlarged kidneys in NPHP2. 28978526 2017
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy. 23559409 2013
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. 21866095 2011
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR A homozygous mutation in INVS causing juvenile nephronophthisis with abnormal reactivity of the Wnt/beta-catenin pathway. 20798123 2010
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GeneticVariation disease BEFREE Here we screened 43 families with infantile nephronophthisis (ESRD less than 5 years of age) for NPHP2 and NPHP3 mutations and determined genotype-phenotype correlations. 19177160 2009
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR Mutations of NPHP2 and NPHP3 in infantile nephronophthisis. 19177160 2009
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing. 18076122 2008
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GeneticVariation disease BEFREE Cystic kidney disease has been linked to mutations in the Invs gene in mice with an inversion of embryonic turning (inv/inv) and the INVS (NPHP2) gene in human infantile nephronophthisis (NPH). 18218308 2008
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Renal cysts of inv/inv mice resemble early infantile nephronophthisis. 15213262 2004
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 CausalMutation disease CLINVAR Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus. 12872123 2003
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease GENOMICS_ENGLAND Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus. 12872123 2003
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GeneticVariation disease UNIPROT Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus. 12872123 2003
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GeneticVariation disease BEFREE Here, we identify inversin (INVS) as the gene mutated in NPHP2 with and without situs inversus. 12872123 2003
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Molecular cloning of a gene for inversion of embryo turning (inv) with cystic kidney. 12386294 2002
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Abnormal nodal flow precedes situs inversus in iv and inv mice. 10549278 1999
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Inversin, a novel gene in the vertebrate left-right axis pathway, is partially deleted in the inv mouse. 9771707 1998
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Cloning of inv, a gene that controls left/right asymmetry and kidney development. 9744276 1998
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease MGD Reversal of left-right asymmetry: a situs inversus mutation. 8480178 1993
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease CTD_human
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 GermlineCausalMutation disease ORPHANET
CUI: C1865872
Disease: NEPHRONOPHTHISIS 2
NEPHRONOPHTHISIS 2
0.960 Biomarker disease GENOMICS_ENGLAND