Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175

2014
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329

2014
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661

2013
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 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
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142

2011
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR The isochromosome i(7)(q10) carrying c.258+2t>c mutation of the SBDS gene does not promote development of myeloid malignancies in patients with Shwachman syndrome. 19148133

2009
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664

2005
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921

2004
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757

2003
Entrez Id: 51119
Gene Symbol: SBDS
SBDS
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.600 GeneticVariation CLINVAR

Entrez Id: 6729
Gene Symbol: SRP54
SRP54
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.100 CausalMutation CLINVAR Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 28972538

2017
Entrez Id: 55253
Gene Symbol: TYW1
TYW1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.100 CausalMutation CLINVAR