RPS19, ribosomal protein S19, 6223

N. diseases: 256; 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 		0.100 Biomarker disease BEFREE Although these diseases are typically acquired, some forms (e.g., Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome) are inherited. 30908982 2019
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE We retrospectively analyzed outcomes of 575 pregnancies in 165 unaffected mothers of offspring with Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) for events noted during pregnancy, labor, and delivery. 28801981 2018
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. 29222241 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE The 4 most frequent syndromes are Fanconi anemia, dyskeratosis congenita, Diamond Blackfan anemia, and Shwachman Diamond syndrome. 29167174 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE Diagnosis of each IBMFS, Fanconi anemia (FA), dyskeratosis congenita, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome was confirmed by syndrome-specific tests. 28486441 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 GeneticVariation disease BEFREE Ribosomal biology defects are the primary causes of Diamond Blackfan anemia (DBA) and Shwachman Diamond syndrome (SDS). 28637614 2017
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE Bone marrow failure syndromes have been well-described in the pediatric setting, e.g., Fanconi anemia (FA), dyskeratosis congenita (DC), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SBS), hallmarked by clinically-recognizable phenotypes (e.g., radial ray anomalies in FA) and significantly increased risks for MDS and/or acute myeloid leukemia (AML) in the setting of bone marrow failure. 27248996 2016
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE We also observe an increase of autophagy in cells derived from DBA patients, in CD34+ erythrocyte progenitor cells with RPS19 knock down, in the red blood cells of zebrafish embryos with RP-deficiency, and in cells from patients with Shwachman-Diamond syndrome (SDS). 24875531 2014
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE These include congenital anemias such as Diamond Blackfan anemia and Shwachman Diamond syndrome; both of which are associated with mutations in various ribosomal genes. 22709827 2012
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 Biomarker disease BEFREE Cells from patients with SDS or Diamond-Blackfan anemia are hypersensitive to low doses of actinomycin D, an inhibitor of rRNA transcription. 17475909 2007
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 GeneticVariation disease BEFREE Gene products mutated in the inherited bone marrow failure syndromes dyskeratosis congenita (DC), cartilage-hair hypoplasia (CHH), Diamond-Blackfan anemia (DBA), and Shwachman-Diamond syndrome (SDS) are all predicted to be involved in different aspects of ribosome synthesis. 16507776 2006
CUI: C0272170
Disease: Shwachman syndrome
Shwachman syndrome 		0.100 GeneticVariation disease BEFREE The five most prevalent diagnoses were Fanconi anemia (FA), Shwachman-Diamond syndrome (SDS), Diamond-Blackfan anemia (DBA), dyskeratosis congenita (DKC), and Kostmann's neutropenia (KS). 16676307 2006