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 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 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 Biomarker disease MGD
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		1.000 Biomarker disease CTD_human