SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329 2014
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175 2014
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661 2013
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. 22934832 2012
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142 2011
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. 19148133 2009
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664 2005
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 GeneticVariation CLINVAR