SBDS, SBDS ribosome maturation factor, 51119

N. diseases: 105; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs373730800
rs373730800
Entrez Id: 51119;55253
Gene Symbol: SBDS;TYW1
SBDS;TYW1
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
dbSNP: rs373730800
rs373730800
Entrez Id: 51119;55253
Gene Symbol: SBDS;TYW1
SBDS;TYW1
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		0.800 GeneticVariation UNIPROT Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome. 22191555 2011
dbSNP: rs373730800
rs373730800
Entrez Id: 51119;55253
Gene Symbol: SBDS;TYW1
SBDS;TYW1
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
dbSNP: rs373730800
rs373730800
Entrez Id: 51119;55253
Gene Symbol: SBDS;TYW1
SBDS;TYW1
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		0.800 GeneticVariation UNIPROT Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
dbSNP: rs373730800
rs373730800
Entrez Id: 51119;55253
Gene Symbol: SBDS;TYW1
SBDS;TYW1
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.800 CausalMutation CLINVAR
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia. 29375851 2018
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort. 29753700 2018
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach. 25844324 2015
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Shwachman-Diamond syndrome (SDS) in a preterm neonate. 26081292 2015
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis. 25729736 2015
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329 2014
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175 2014
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661 2013
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome. 22934832 2012
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142 2011
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR 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
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664 2005
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		0.710 GeneticVariation BEFREE We further show that the common SDS-related K62X truncation is non-functional. 15701631 2005
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome. 15342903 2004
dbSNP: rs113993991
rs113993991
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		AG 0.710 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
dbSNP: rs113993992
rs113993992
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C0272170
Disease:
Shwachman syndrome 		G 0.700 CausalMutation CLINVAR Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome. 24898207 2014
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329 2014
dbSNP: rs113993993
rs113993993
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease:
SHWACHMAN-DIAMOND SYNDROME 1 		G 0.700 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175 2014