SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Shwachman syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 24898207 2014
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 23351992 2013
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Hematologically important mutations: Shwachman-Diamond syndrome. 17916435 2008
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. 15284109 2004
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003