rs373730800, SBDS;TYW1

N. diseases: 4
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.800 GeneticVariation UNIPROT Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 24898207 2014
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.800 GeneticVariation UNIPROT Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. 22191555 2011
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.800 GeneticVariation UNIPROT Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome. 21536732 2011
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.800 GeneticVariation UNIPROT Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.800 CausalMutation CLINVAR