DisGeNET - a database of gene-disease associations

SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17

Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×

Variant: rs28942099 ×

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:

rs28942099

Entrez Id:	51119;55253
Gene Symbol:	SBDS;TYW1

SBDS;TYW1

CUI:	C4692625
Disease:

SHWACHMAN-DIAMOND SYNDROME 1

0.700

GeneticVariation

UNIPROT

Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.

24898207

2014

dbSNP:

rs28942099

Entrez Id:	51119;55253
Gene Symbol:	SBDS;TYW1

SBDS;TYW1

CUI:	C4692625
Disease:

SHWACHMAN-DIAMOND SYNDROME 1

0.700

GeneticVariation

UNIPROT

Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.

21536732

2011

dbSNP:

rs28942099

Entrez Id:	51119;55253
Gene Symbol:	SBDS;TYW1

SBDS;TYW1

CUI:	C4692625
Disease:

SHWACHMAN-DIAMOND SYNDROME 1

0.700

GeneticVariation

UNIPROT

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

22191555

2011

dbSNP:

rs28942099

Entrez Id:	51119;55253
Gene Symbol:	SBDS;TYW1

SBDS;TYW1

CUI:	C4692625
Disease:

SHWACHMAN-DIAMOND SYNDROME 1

0.700

GeneticVariation

UNIPROT

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

12496757

2003