DisGeNET - a database of gene-disease associations

SMN2, survival of motor neuron 2, centromeric, 6607

N. diseases: 299; N. variants: 35

Disease: Juvenile Spinal Muscular Atrophy ×

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:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Consensus statement for standard of care in spinal muscular atrophy.

17761659

2007

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Consensus statement for standard of care in spinal muscular atrophy.

17761659

2007

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Consensus statement for standard of care in spinal muscular atrophy.

17761659

2007

dbSNP:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

14715275

2004

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

14715275

2004

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

14715275

2004

dbSNP:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

10732817

1997

dbSNP:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

9158159

1997

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

9158159

1997

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

10732817

1997

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Molecular diagnosis of non-deletion SMA patients using quantitative PCR of SMN exon 7.

10732817

1997

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

GeneticVariation

UNIPROT

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

9158159

1997

dbSNP:

rs104893927

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893931

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs104893932

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.800

CausalMutation

CLINVAR

dbSNP:

rs121909192

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

CausalMutation

CLINVAR

A positive modifier of spinal muscular atrophy in the SMN2 gene.

19716110

2009

dbSNP:

rs75030631

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

GeneticVariation

UNIPROT

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

14715275

2004

dbSNP:

rs77969175

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

GeneticVariation

UNIPROT

Rpp20 interacts with SMN and is re-distributed into SMN granules in response to stress.

14715275

2004

dbSNP:

rs1554066397

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

CausalMutation

CLINVAR

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs75030631

Entrez Id:	6607
Gene Symbol:	SMN2

SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

GeneticVariation

UNIPROT

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs77969175

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

GeneticVariation

UNIPROT

Intragenic telSMN mutations: frequency, distribution, evidence of a founder effect, and modification of the spinal muscular atrophy phenotype by cenSMN copy number.

9837824

1998

dbSNP:

rs1554066659

Entrez Id:	6606;6607
Gene Symbol:	SMN1;SMN2

SMN1;SMN2

CUI:	C0152109
Disease:

Juvenile Spinal Muscular Atrophy

0.700

GeneticVariation

CLINVAR

Missense mutations in exon 6 of the survival motor neuron gene in patients with spinal muscular atrophy (SMA).

9158159

1997