DisGeNET - a database of gene-disease associations

Source: ALL

Disease: SOTOS SYNDROME 1 ×

Variant: rs587784174 ×

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:

rs587784174

NSD1

CUI:	C4551477
Disease:	SOTOS SYNDROME 1

SOTOS SYNDROME 1

0.800

GeneticVariation

UNIPROT

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

14997421

2004

dbSNP:

rs587784174

NSD1

CUI:	C4551477
Disease:	SOTOS SYNDROME 1

SOTOS SYNDROME 1

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:

rs587784174

NSD1

CUI:	C4551477
Disease:	SOTOS SYNDROME 1

SOTOS SYNDROME 1

0.800

GeneticVariation

UNIPROT

Spectrum of NSD1 mutations in Sotos and Weaver syndromes.

12807965

2003

dbSNP:

rs587784174

NSD1

CUI:	C4551477
Disease:	SOTOS SYNDROME 1

SOTOS SYNDROME 1

0.800

GeneticVariation

UNIPROT

Haploinsufficiency of NSD1 causes Sotos syndrome.

11896389

2002

dbSNP:

rs587784174

NSD1

CUI:	C4551477
Disease:	SOTOS SYNDROME 1

SOTOS SYNDROME 1

0.800

CausalMutation

CLINVAR