SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Disease: Shwachman syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease MGD
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CTD_human
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE The results suggest that the characteristic skeletal changes are present in all patients with SDS and SBDS mutations, but their severity and localization varies with age. 14984468 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history. 15284109 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP. 14749921 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP. 14749921 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE We report a case of SDS with an i(7)(q10) in the BM and two different mutations in the SBDS gene. 15474150 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 15342903 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history. 15284109 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease GENOMICS_ENGLAND A previous study in SDS patients largely of European ancestry found that most SBDS mutations occurred within a approximately 240-bp region of exon 2 and resulted from gene conversion due to recombination with a pseudogene, SBDSP. 14749921 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN The presence (or absence) of SBDS mutations may define subgroups of patients with SDS who share distinct clinical features or natural history. 15284109 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 15342903 2004
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome. 15701631 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal. 15701631 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CLINGEN The causative SBDS gene was sequenced in 20 of 23 unrelated patients with clinical SDS. 15769891 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 AlteredExpression disease BEFREE We characterized Shwachman-Bodian-Diamond syndrome (SBDS) protein expression and intracellular localization in 7 patients with SDS and healthy controls. 15860664 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE The Shwachman Bodian Diamond syndrome gene ( SBDS ) was sequenced to search for mutations in patients with no deleterious CFTR mutations and steatorrhea to determine if any had unrecognized Shwachman-Diamond syndrome (SDS). 15870673 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 CausalMutation disease CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 GeneticVariation disease BEFREE The SDS disease locus was mapped to chromosome 7q11 and disease-associated mutations were reported in the Shwachman-Bodian-Diamond syndrome (SBDS) gene. 15776428 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE The causative SBDS gene was sequenced in 20 of 23 unrelated patients with clinical SDS. 15769891 2005
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease BEFREE SBDS gene analysis confirmed SBDS in both patients. 16303713 2005