RPL27A, ribosomal protein L27a, 6157

N. diseases: 11; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia 		0.300 Biomarker phenotype CTD_human We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation. 21674502 2011
CUI: C0030312
Disease: Pancytopenia
Pancytopenia 		0.300 Biomarker disease CTD_human We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation. 21674502 2011
CUI: C0162834
Disease: Hyperpigmentation
Hyperpigmentation 		0.300 Biomarker phenotype CTD_human We present a mutation in the ribosomal protein Rpl27a gene (sooty foot ataxia mice), isolated through a sensitized N-ethyl-N-nitrosourea (ENU) mutagenesis screen for p53 pathway defects, that shares striking phenotypic similarities with high p53 mouse models, including cerebellar ataxia, pancytopenia and epidermal hyperpigmentation. 21674502 2011
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		0.300 Biomarker phenotype CTD_human Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models. 21674502 2011
CUI: C0234357
Disease: Adiadochokinesis
Adiadochokinesis 		0.300 Biomarker phenotype CTD_human Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models. 21674502 2011
CUI: C0750994
Disease: Cerebellar Hemiataxia
Cerebellar Hemiataxia 		0.300 Biomarker phenotype CTD_human Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models. 21674502 2011
CUI: C3668822
Disease: Hypermetria (finding)
Hypermetria (finding) 		0.300 Biomarker phenotype CTD_human Rpl27a mutation in the sooty foot ataxia mouse phenocopies high p53 mouse models. 21674502 2011
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE Ribosomal proteins (e.g., RPL7, RPL22, and RPL27A) and CRC-related genes such as APC, AXIN1, E2F4, MSH2, PMS2, and TP53 were highly enriched. 29505855 2018
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.010 Biomarker group BEFREE RPL27A is a target of miR-595 and may contribute to the myelodysplastic phenotype through ribosomal dysgenesis. 27374104 2016
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 Biomarker group BEFREE Lastly, we show that miR-595 expression appears significantly downregulated in the majority of primary samples derived from MDS patients with (-7)/(7q-), in association with RPL27A upregulation. 27374104 2016