DisGeNET - a database of gene-disease associations

FOCAL SEGMENTAL GLOMERULOSCLEROSIS 2, C1858915

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs121434390

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

26892346

2016

dbSNP:

rs121434391

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

26892346

2016

dbSNP:

rs121434392

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

26892346

2016

dbSNP:

rs121434394

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

26892346

2016

dbSNP:

rs121434395

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 G757D Loss-of-Function Mutation Associates with FSGS.

26892346

2016

dbSNP:

rs121434390

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

23014460

2013

dbSNP:

rs121434390

TRPC6

0.800

GeneticVariation

UNIPROT

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

23291369

2013

dbSNP:

rs121434391

TRPC6

0.800

GeneticVariation

UNIPROT

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

23291369

2013

dbSNP:

rs121434391

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

23014460

2013

dbSNP:

rs121434392

TRPC6

0.800

GeneticVariation

UNIPROT

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

23291369

2013

dbSNP:

rs121434392

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

23014460

2013

dbSNP:

rs121434394

TRPC6

0.800

GeneticVariation

UNIPROT

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

23291369

2013

dbSNP:

rs121434394

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

23014460

2013

dbSNP:

rs121434395

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in the INF2 gene account for a significant proportion of familial but not sporadic focal and segmental glomerulosclerosis.

23014460

2013

dbSNP:

rs121434395

TRPC6

0.800

GeneticVariation

UNIPROT

New TRPC6 gain-of-function mutation in a non-consanguineous Dutch family with late-onset focal segmental glomerulosclerosis.

23291369

2013

dbSNP:

rs121434390

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs121434390

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21511817

2012

dbSNP:

rs121434391

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21511817

2012

dbSNP:

rs121434391

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs121434392

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs121434392

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21511817

2012

dbSNP:

rs121434394

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs121434394

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21511817

2012

dbSNP:

rs121434395

TRPC6

0.800

GeneticVariation

UNIPROT

Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.

22732337

2012

dbSNP:

rs121434395

TRPC6

0.800

GeneticVariation

UNIPROT

TRPC6 gene variants in Turkish children with steroid-resistant nephrotic syndrome.

21511817

2012