RPL13, ribosomal protein L13, 6137

N. diseases: 20; N. variants: 0
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 		0.300 Biomarker disease GENOMICS_ENGLAND Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia. 25424902 2015
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0038356
Disease: Stomach Neoplasms
Stomach Neoplasms 		0.300 Biomarker group CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0235874
Disease: Disease Exacerbation
Disease Exacerbation 		0.300 Biomarker phenotype CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C1708349
Disease: Hereditary Diffuse Gastric Cancer
Hereditary Diffuse Gastric Cancer 		0.300 Biomarker disease CTD_human A gene expression signature of acquired chemoresistance to cisplatin and fluorouracil combination chemotherapy in gastric cancer patients. 21364753 2011
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE Four sequences were down-regulated in LNCaP-r cells, including an inactive variant of the E2 ubiquitin conjugating enzyme (UEV-1), a novel metalloproteinase-related collagenase (PM5), and a potential tumor suppressor gene (breast basic conserved gene, BBC1). 10329586 1999
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE Two genes located in this region, the cellular adhesion regulatory molecule (CMAR) and the breast basic conserved gene (BBC1), are plausible candidate tumour-suppressor genes. 9413939 1997
CUI: C0016514
Disease: Foot-and-Mouth Disease
Foot-and-Mouth Disease 		0.010 Biomarker group BEFREE Here we have identified the ribosomal protein L13 (RPL13) as a critical regulator of IRES-driven translation during FMDV infection. 31619563 2020
CUI: C0005941
Disease: Bone Diseases, Developmental
Bone Diseases, Developmental 		0.010 GeneticVariation group BEFREE Here, we report one de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protein RPL13 (also called eL13), in four unrelated individuals with a rare bone dysplasia causing severe short stature. 31630789 2019
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.010 GeneticVariation disease BEFREE Here, we report one de novo missense variant and three de novo splice variants in RPL13, which encodes ribosomal protein RPL13 (also called eL13), in four unrelated individuals with a rare bone dysplasia causing severe short stature. 31630789 2019
CUI: C0432211
Disease: Spondyloepimetaphyseal disorder
Spondyloepimetaphyseal disorder 		0.010 GeneticVariation disease BEFREE RPL13 Variants Cause Spondyloepimetaphyseal Dysplasia with Severe Short Stature. 31630789 2019
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		0.010 Biomarker group BEFREE In addition, the combination of YWHAZ, RPL13, and HMBS is recommended as the reference gene panel for more accurate quantitative data normalization of heart or lung in the chicken pulmonary hypertension. 30184115 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE RPL13 gene was the most stable RG in analysis of 35 primary tumor nonmetastatic versus 35 mccRCC samples and matched metastasized T/C/M samples (n = 12, each group). 25225161 2014
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.010 Biomarker disease BEFREE Among all candidates tested, RPL13 was the best housekeeper for qRT-PCR studies in autopsy brain tissue samples from controls and AD cases. 21044776 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 AlteredExpression disease LHGDN Alterations in oligodendrocyte proteins, calcium homeostasis and new potential markers in schizophrenia anterior temporal lobe are revealed by shotgun proteome analysis. 19034380 2009
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		0.010 GeneticVariation disease BEFREE Activation of the ribosomal protein L13 gene in human gastrointestinal cancer. 16786168 2006
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.010 Biomarker disease BEFREE FN, BBC1, and UEV-1 localize to regions of chromosomal aberration (2q3.4, 16q24.3, and 20q13.2, respectively) associated with advanced prostate cancer and thus may be highly relevant to disease progression. 10329586 1999
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 Biomarker disease BEFREE FN, BBC1, and UEV-1 localize to regions of chromosomal aberration (2q3.4, 16q24.3, and 20q13.2, respectively) associated with advanced prostate cancer and thus may be highly relevant to disease progression. 10329586 1999
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 Biomarker disease BEFREE The absence of tumour-specific mutations in CMAR and BBC1 in this selected series of breast tumours implies that another gene at 16q24.3 must be the tumour-suppressor gene that is the target for LOH in breast cancer. 9413939 1997
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 Biomarker disease BEFREE The absence of tumour-specific mutations in CMAR and BBC1 in this selected series of breast tumours implies that another gene at 16q24.3 must be the tumour-suppressor gene that is the target for LOH in breast cancer. 9413939 1997
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.010 Biomarker group BEFREE Exclusion of BBC1 and CMAR as candidate breast tumour-suppressor genes. 9413939 1997