DisGeNET - a database of gene-disease associations

INF2, inverted formin, FH2 and WH2 domain containing, 64423

N. diseases: 62; N. variants: 21

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:

rs387907034

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

25676889

2015

dbSNP:

rs387907035

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

25676889

2015

dbSNP:

rs387907036

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

25676889

2015

dbSNP:

rs387907037

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

25676889

2015

dbSNP:

rs387907038

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons.

25676889

2015

dbSNP:

rs267606877

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs267606878

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs267606879

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs267606880

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs267607183

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs387907034

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

24750328

2014

dbSNP:

rs387907034

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs387907035

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs387907035

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

24750328

2014

dbSNP:

rs387907036

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

24750328

2014

dbSNP:

rs387907036

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs387907037

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

24750328

2014

dbSNP:

rs387907037

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs387907038

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis.

24750328

2014

dbSNP:

rs387907038

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C3280845
Disease:

CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E

0.800

GeneticVariation

UNIPROT

Novel INF2 mutations in an Italian cohort of patients with focal segmental glomerulosclerosis, renal failure and Charcot-Marie-Tooth neuropathy.

25165188

2014

dbSNP:

rs267606877

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

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:

rs267606877

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.

22971997

2013

dbSNP:

rs267606878

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

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:

rs267606878

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

0.800

GeneticVariation

UNIPROT

A novel mutation, outside of the candidate region for diagnosis, in the inverted formin 2 gene can cause focal segmental glomerulosclerosis.

22971997

2013

dbSNP:

rs267606879

Entrez Id:	64423
Gene Symbol:	INF2

INF2

CUI:	C2750475
Disease:

Focal Segmental Glomerulosclerosis 5

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