DisGeNET - a database of gene-disease associations

SOTOS SYNDROME 1, C4551477

Variant: rs587784169 ×

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:

rs587784169

NSD1

0.800

GeneticVariation

UNIPROT

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

14997421

2004

dbSNP:

rs587784169

NSD1

0.800

GeneticVariation

UNIPROT

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

12807965

2003

dbSNP:

rs587784169

NSD1

0.800

GeneticVariation

UNIPROT

NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgrowth phenotypes.

12464997

2003

dbSNP:

rs587784169

NSD1

0.800

GeneticVariation

UNIPROT

Haploinsufficiency of NSD1 causes Sotos syndrome.

11896389

2002

dbSNP:

rs587784169

NSD1

0.800

CausalMutation

CLINVAR