|
Anemia, Diamond-Blackfan
|
0.680 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Germline Genetic Predisposition to Hematologic Malignancy.
|
28297620 |
2017 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Several reports show that DBA is associated with mutations in the ribosomal protein (RP) genes, RPS19, RPS24, RPS17, RPL35A, RPL5, RPL11, and RPS7.
|
22510774 |
2012 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Recent advances in identifying the genetic abnormalities underlying DBA have demonstrated involvement of genes encoding both large (RPL) and small (RPS) ribosomal subunit proteins, including mutations of RPL5, RPL11, RPL35A, RPS7, RPS10, RPS17, RPS19, RPS24, and RPS26 in 50% to 60% of affected patients.
|
21435509 |
2011 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
This is the third case of DBA from a RPS17 mutation in the literature and is the second case of a RPS17 mutation in the translation initiation codon, following c.2T>G.
|
19953637 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Deletions of RPS17 may also predispose individuals with 15q25.2 deletions to DBA and associated anomalies.
|
20921022 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
We screened 49 Japanese patients with Diamond-Blackfan anemia (45 probands) for mutations in the six known genes associated with Diamond-Blackfan anemia: RPS19, RPS24, RPS17, RPL5, RPL11, and RPL35A.
|
20378560 |
2010 |
|
Anemia, Diamond-Blackfan
|
0.680 |
Biomarker
|
disease |
BEFREE |
Mutations in ribosomal proteins RPS19, RPS24 and RPS17 have been reported in Diamond-Blackfan Anemia (DBA), an autosomal dominant disease characterised by pure red cell aplasia.
|
18781615 |
2008 |
|
Anemia, Diamond-Blackfan
|
0.680 |
Biomarker
|
disease |
CTD_human |
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
|
17647292 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
LHGDN |
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
|
17647292 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia.
|
17647292 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.680 |
GeneticVariation
|
disease |
BEFREE |
Diamond-Blackfan anemia (DBA) is a rare congenital disease linked to mutations in the ribosomal protein genes rps19, rps24 and rps17.
|
17726054 |
2007 |
|
Anemia, Diamond-Blackfan
|
0.680 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Diamond-Blackfan Anemia 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
|
23812780 |
2013 |
|
Diamond-Blackfan Anemia 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ribosomal protein gene deletions in Diamond-Blackfan anemia.
|
22045982 |
2011 |
|
Diamond-Blackfan Anemia 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
|
19061985 |
2008 |
|
Diamond-Blackfan Anemia 4
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Diamond-Blackfan Anemia 4
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Diamond-Blackfan Anemia 4
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Abnormality of radial ray
|
0.300 |
Biomarker
|
phenotype |
GENOMICS_ENGLAND |
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
|
19061985 |
2008 |
|
Anemia, Macrocytic
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Cardiac Arrhythmia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Cleft Palate
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Dwarfism
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
|
Fatigue
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
|
Hand deformities
|
0.100 |
Biomarker
|
group |
HPO |
|
|
|