RPL35A, ribosomal protein L35a, 6165

N. diseases: 31; N. variants: 5
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 CausalMutation disease CLINVAR Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation. 25946618 2015
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 CausalMutation disease CLINVAR Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205 2008
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 GeneticVariation disease UNIPROT Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205 2008
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 Biomarker disease GENOMICS_ENGLAND Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205 2008
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C2675859
Disease: Diamond-Blackfan Anemia 5
Diamond-Blackfan Anemia 5 		0.700 Biomarker disease CTD_human
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 Biomarker disease BEFREE We identified 85 overlapping deletions, of which six included the RPL35A gene and all should be had DBA. 28432740 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 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
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 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
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 GeneticVariation disease BEFREE Using genome-wide single-nucleotide polymorphism array to evaluate for regions of recurrent copy variation, we identified deletions at known DBA-related ribosomal protein gene loci in 17% (9 of 51) of patients without an identifiable mutation, including RPS19, RPS17, RPS26, and RPL35A. 22045982 2011
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 Biomarker disease BEFREE In this genotype-phenotype analysis we screened the coding sequence and intron-exon boundaries of RPS14, RPS16, RPS24, RPL5, RPL11, and RPL35A in 92 Italian patients with Diamond-Blackfan anemia who were negative for RPS19 mutations. 19773262 2010
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 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
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 Biomarker disease GENOMICS_ENGLAND Analysis of pre-rRNA processing in primary DBA lymphoblastoid cell lines demonstrated similar alterations of large ribosomal subunit rRNA in both RPL35A-mutated and some RPL35A wild-type patients, suggesting additional large ribosomal subunit gene defects are likely present in some cases of DBA. 18535205 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 GeneticVariation disease BEFREE Analysis of pre-rRNA processing in primary DBA lymphoblastoid cell lines demonstrated similar alterations of large ribosomal subunit rRNA in both RPL35A-mutated and some RPL35A wild-type patients, suggesting additional large ribosomal subunit gene defects are likely present in some cases of DBA. 18535205 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 GeneticVariation disease LHGDN Analysis of pre-rRNA processing in primary DBA lymphoblastoid cell lines demonstrated similar alterations of large ribosomal subunit rRNA in both RPL35A-mutated and some RPL35A wild-type patients, suggesting additional large ribosomal subunit gene defects are likely present in some cases of DBA. 18535205 2008
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.470 CausalMutation disease CLINVAR
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia. 18535205 2008
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic 		0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia 		0.100 Biomarker phenotype HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue 		0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities 		0.100 Biomarker group HPO
CUI: C0018818
Disease: Ventricular Septal Defects
Ventricular Septal Defects 		0.100 Biomarker group HPO