DisGeNET - a database of gene-disease associations

AXDND1, axonemal dynein light chain domain containing 1, 126859

N. diseases: 5; N. variants: 22

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:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

26420286

2015

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

26420286

2015

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.

25349199

2015

dbSNP:

rs780761368

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations account for only 15% of nephrotic syndrome cases.

26420286

2015

dbSNP:

rs200482683

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

Retrospective mutational analysis of NPHS1, NPHS2, WT1 and LAMB2 in children with steroid-resistant focal segmental glomerulosclerosis - a single-centre experience.

24856380

2014

dbSNP:

rs200482683

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

Rapid detection of monogenic causes of childhood-onset steroid-resistant nephrotic syndrome.

24742477

2014

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.

24509478

2014

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

24227627

2014

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

24227627

2014

dbSNP:

rs780761368

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

24227627

2014

dbSNP:

rs780761368

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.

24227627

2014

dbSNP:

rs200482683

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

Mutational analysis in podocin-associated hereditary nephrotic syndrome in Polish patients: founder effect in the Kashubian population.

23645318

2013

dbSNP:

rs200482683

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

23242530

2013

dbSNP:

rs200482683

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

CLINVAR

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

23242530

2013

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

23242530

2013

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

23800802

2013

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

24072147

2013

dbSNP:

rs74315348

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

23913389

2013

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

24072147

2013

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

Mutations in NPHS2 (podocin) in Mexican children with nephrotic syndrome who respond to standard steroid treatment.

23913389

2013

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

CausalMutation

CLINVAR

A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.

23595123

2013

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

23800802

2013

dbSNP:

rs775006954

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.

23242530

2013

dbSNP:

rs780761368

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 gene in steroid-resistant nephrotic syndrome: prevalence, clinical course, and mutational spectrum in South-West Iranian children.

24072147

2013

dbSNP:

rs780761368

Entrez Id:	7827;126859
Gene Symbol:	NPHS2;AXDND1

NPHS2;AXDND1

CUI:	C3496337
Disease:

Idiopathic Nephrotic Syndrome

0.800

GeneticVariation

UNIPROT

NPHS2 homozygous p.R229Q variant: potential modifier instead of causal effect in focal segmental glomerulosclerosis.

23800802

2013