rs113993992, SBDS

N. diseases: 3
Disease: Shwachman syndrome ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 24898207 2014
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update. 23351992 2013
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Hematologically important mutations: Shwachman-Diamond syndrome. 17916435 2008
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome. 15284109 2004
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003