rs113993993, SBDS

N. diseases: 9
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry. 24388329 2014
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome. 24629175 2014
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661 2013
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Shwachman-Diamond syndrome: diarrhea, no longer required? 22935661 2013
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 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
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142 2011
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome. 21695142 2011
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 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
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR The Shwachman-Diamond SBDS protein localizes to the nucleolus. 15860664 2005
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. 14749921 2004
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
Shwachman syndrome
CUI: C0272170
Disease: Shwachman syndrome
0.700 CausalMutation CLINVAR Mutations in SBDS are associated with Shwachman-Diamond syndrome. 12496757 2003
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
0.700 SusceptibilityMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
0.700 CausalMutation CLINVAR
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 CausalMutation CLINVAR
Splenomegaly
CUI: C0038002
Disease: Splenomegaly
0.700 CausalMutation CLINVAR
SHWACHMAN-DIAMOND SYNDROME 1
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
0.700 GeneticVariation CLINVAR
Sunken eyes
CUI: C0423224
Disease: Sunken eyes
0.700 CausalMutation CLINVAR
Tooth absent
CUI: C0457756
Disease: Tooth absent
0.700 CausalMutation CLINVAR