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: rs1554341363
rs1554341363
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
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: rs1554341363
rs1554341363
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
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: rs1554341363
rs1554341363
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
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: rs1554341363
rs1554341363
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		0.700 GeneticVariation UNIPROT Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003