DisGeNET - a database of gene-disease associations

INVS, inversin, 27130

N. diseases: 74; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

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

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.800

CausalMutation

CLINVAR

dbSNP:

rs6479003

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0014772
Disease:

Red Blood Cell Count measurement

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs200844390

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

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:

rs200844390

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

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:

rs376879175

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

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:

rs878855332

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

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:

rs878855333

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

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:

rs121964994

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

21866095

2011

dbSNP:

rs753348470

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.700

CausalMutation

CLINVAR

Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies.

21866095

2011

dbSNP:

rs200844390

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

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

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.700

CausalMutation

CLINVAR

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

19177160

2009

dbSNP:

rs753348470

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.700

CausalMutation

CLINVAR

Mutations of NPHP2 and NPHP3 in infantile nephronophthisis.

19177160

2009

dbSNP:

rs200844390

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

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:

rs121964994

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

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:

rs1322951938

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

0.700

GeneticVariation

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:

rs200844390

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

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

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

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

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs1425211517

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

0.700

CausalMutation

CLINVAR

dbSNP:

rs150001738

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

0.700

CausalMutation

CLINVAR

dbSNP:

rs1564123602

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0687120
Disease:

Nephronophthisis

TGACA

0.700

CausalMutation

CLINVAR

dbSNP:

rs267607185

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C1865872
Disease:

NEPHRONOPHTHISIS 2

0.700

CausalMutation

CLINVAR

dbSNP:

rs145570263

Entrez Id:	27130
Gene Symbol:	INVS

INVS

CUI:	C0152021
Disease:

Congenital heart disease

0.010

GeneticVariation

BEFREE

Liver involvement was observed in all patients with NPHP3 mutations and congenital heart disease in two patients harbouring NPHP3 mutation of c.2369 T > C (p.L790P).

26184788

2016