RPS17, ribosomal protein S17, 6218

N. diseases: 28; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030232
Disease: Pallor
Pallor
0.100 Biomarker phenotype HPO
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty
0.100 Biomarker phenotype 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: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.100 Biomarker phenotype HPO
CUI: C0542035
Disease: Erythroid hypoplasia
Erythroid hypoplasia
0.100 Biomarker disease HPO
CUI: C0744356
Disease: Abnormality of the genital system
Abnormality of the genital system
0.100 Biomarker phenotype HPO
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
0.100 Biomarker phenotype HPO
CUI: C1839739
Disease: Thick lower lip vermilion
Thick lower lip vermilion
0.100 Biomarker phenotype HPO
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge
0.100 Biomarker phenotype HPO
CUI: C1854114
Disease: Short nose
Short nose
0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
0.100 Biomarker phenotype HPO
CUI: C4021821
Disease: Abnormality of the urinary system
Abnormality of the urinary system
0.100 Biomarker disease HPO
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.010 Biomarker disease BEFREE Comprehensive ranking indicated RPS17 with MT-ATP6 as the best ICGs for qPCR in PBMCs of control and ALS subjects, and RPS17 with 18RNA or MT-ATP6 in LCLs from ALS. 28328930 2017
CUI: C0034902
Disease: Pure Red-Cell Aplasia
Pure Red-Cell Aplasia
0.010 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
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE In addition to the overexpression of AFP, these genes (increased in the presence of HCC) are involved in many processes, such as transcription and protein biosynthesis (HNRPDL, PABPC1, POLR2K, SRP9, SNRPA, and six ribosomal protein genes including RPL8, RPL14, RPL41, RPS5, RPS17, RPS24), the metabolism of lipids and proteins (FADS1, ApoA-II, ApoM, FTL), cell proliferation (Syndecan-2, and Annexin A2), and signal transduction (LRRC28 and FMR1). 17786358 2007
CUI: C1260899
Disease: Anemia, Diamond-Blackfan
Anemia, Diamond-Blackfan
0.680 CausalMutation disease CLINVAR
CUI: C2675860
Disease: Diamond-Blackfan Anemia 4
Diamond-Blackfan Anemia 4
0.600 CausalMutation disease CLINVAR