RPS29, ribosomal protein S29, 6235

N. diseases: 32; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207 2014
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.700 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207 2014
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.700 GeneticVariation disease UNIPROT Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207 2014
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.700 CausalMutation disease CLINVAR
CUI: C4014641
Disease: DIAMOND-BLACKFAN ANEMIA 13
DIAMOND-BLACKFAN ANEMIA 13 		0.700 Biomarker disease CTD_human
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 Biomarker disease GENOMICS_ENGLAND Germline Genetic Predisposition to Hematologic Malignancy. 28297620 2017
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 Biomarker disease GENOMICS_ENGLAND We demonstrated that both RPS29 mutations failed to rescue the defective erythropoiesis in the rps29(-/-) mutant zebra fish DBA model. 24829207 2014
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 GeneticVariation disease BEFREE We demonstrated that both RPS29 mutations failed to rescue the defective erythropoiesis in the rps29(-/-) mutant zebra fish DBA model. 24829207 2014
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan 		0.510 GermlineCausalMutation disease ORPHANET We demonstrated that both RPS29 mutations failed to rescue the defective erythropoiesis in the rps29(-/-) mutant zebra fish DBA model. 24829207 2014
CUI: C2931850
Disease: Aase Smith syndrome 2
Aase Smith syndrome 2 		0.300 GermlineCausalMutation disease ORPHANET Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families. 24829207 2014
CUI: C4228778
Disease: Abnormality of radial ray
Abnormality of radial ray 		0.300 Biomarker phenotype GENOMICS_ENGLAND
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: C0030232
Disease: Pallor
Pallor 		0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.100 Biomarker phenotype HPO
CUI: C0085577
Disease: Normocytic anemia
Normocytic anemia 		0.100 Biomarker disease HPO
CUI: C0085669
Disease: Acute leukemia
Acute leukemia 		0.100 Biomarker disease HPO
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		0.100 Biomarker group HPO
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system 		0.100 Biomarker phenotype HPO
CUI: C1837352
Disease: Childhood onset
Childhood onset 		0.100 Biomarker phenotype HPO