RPS19, ribosomal protein S19, 6223

N. diseases: 256; N. variants: 17
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.700 Biomarker disease CTD_human
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.700 GeneticVariation disease CLINVAR
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.690 CausalMutation disease CLINVAR
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.690 GeneticVariation disease CLINVAR
CUI: C2676137
Disease: Diamond-Blackfan Anemia 1
Diamond-Blackfan Anemia 1
0.690 Biomarker disease GENOMICS_ENGLAND
CUI: C0241391
Disease: Thumb absent
Thumb absent
0.400 Biomarker phenotype HPO
CUI: C0431890
Disease: Hypoplasia of thumb
Hypoplasia of thumb
0.400 Biomarker disease HPO
CUI: C3278811
Disease: Thumb aplasia
Thumb aplasia
0.400 Biomarker disease HPO
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia
0.170 Biomarker disease HPO
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME
0.160 Biomarker group HPO
CUI: C0026985
Disease: Myelodysplasia
Myelodysplasia
0.120 Biomarker disease HPO
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma
0.120 Biomarker disease HPO
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.110 Biomarker disease HPO
CUI: C0002886
Disease: Anemia, Macrocytic
Anemia, Macrocytic
0.100 Biomarker disease HPO
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation
0.100 Biomarker disease HPO
CUI: C0003811
Disease: Cardiac Arrhythmia
Cardiac Arrhythmia
0.100 Biomarker phenotype HPO
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.100 Biomarker disease HPO
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.100 Biomarker disease HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism
0.100 Biomarker disease HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0015934
Disease: Fetal Growth Retardation
Fetal Growth Retardation
0.100 Biomarker phenotype HPO
CUI: C0018564
Disease: Hand deformities
Hand deformities
0.100 Biomarker group HPO
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.100 Biomarker disease HPO