RPL27A, ribosomal protein L27a, 6157

N. diseases: 11; N. variants: 0
Disease: Hyperpigmentation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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