RPS20, ribosomal protein S20, 6224

N. diseases: 86; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220810
Disease: Congenital defects
Congenital defects
0.010 Biomarker group BEFREE Human cytomegalovirus (HCMV) infection, which is the major cause of congenital defects, encodes multiple glycoproteins (US2, US3, US6, US10 and US11) that interrupt the MHC class I pathway of antigen presentation. 15288176 2004
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation disease BEFREE We provide an overview of newly described genes and syndromes associated with predisposition to CRC and polyposis, including: polymerase proofreading-associated polyposis, NTHL1-associated polyposis, mismatch repair gene biallelic inactivation-related adenomatous polyposis (including MSH3- and MLH3-associated polyposes), GREM1-associated mixed polyposis, RNF43-associated serrated polyposis, and RPS20 mutations as a rare cause of hereditary nonpolyposis CRC. 30862463 2019
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.020 GeneticVariation disease BEFREE We therefore found published evidence to support the association between variants in NTHL1 and RPS20 with CRC, but not of other recently reported CRC susceptibility variants. 27713038 2017
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
0.100 GeneticVariation disease GWASCAT Transancestral mapping and genetic load in systemic lupus erythematosus. 28714469 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0001816
Disease: Agnosia
Agnosia
0.100 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety
0.100 Biomarker disease HPO
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms
0.100 Biomarker group HPO
CUI: C0009806
Disease: Constipation
Constipation
0.100 Biomarker phenotype HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.100 Biomarker disease HPO
CUI: C0013362
Disease: Dysarthria
Dysarthria
0.100 Biomarker disease HPO
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome
0.100 Biomarker disease HPO
CUI: C0015672
Disease: Fatigue
Fatigue
0.100 Biomarker phenotype HPO
CUI: C0017181
Disease: Gastrointestinal Hemorrhage
Gastrointestinal Hemorrhage
0.100 Biomarker phenotype HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations
0.100 Biomarker disease HPO
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
0.100 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome
0.100 Biomarker group HPO
CUI: C0026826
Disease: Muscle Hypertonia
Muscle Hypertonia
0.100 Biomarker phenotype HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
0.100 Biomarker phenotype HPO
CUI: C0027498
Disease: Nausea and vomiting
Nausea and vomiting
0.100 Biomarker phenotype HPO
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.100 Biomarker disease HPO
CUI: C0030554
Disease: Paresthesia
Paresthesia
0.100 Biomarker phenotype HPO
CUI: C0032000
Disease: Pituitary Adenoma
Pituitary Adenoma
0.100 Biomarker disease HPO
CUI: C0034885
Disease: Rectal Neoplasms
Rectal Neoplasms
0.100 Biomarker group HPO
CUI: C0036572
Disease: Seizures
Seizures
0.100 Biomarker phenotype HPO