MARS1, methionyl-tRNA synthetase 1, 4141

N. diseases: 66; N. variants: 11
Disease: Pelger-Huet Anomaly ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030779
Disease: Pelger-Huet Anomaly
Pelger-Huet Anomaly 		0.010 GeneticVariation disease BEFREE Based on the localization of missense variants and in-frame deletions, three clinical subgroups arise that differ significantly regarding main clinical features and are directly related to the affected region of the NBAS protein: β-propeller (combined phenotype), Sec39 (infantile liver failure syndrome type 2/ILFS2), and C-terminal (short stature, optic atrophy, and Pelger-Huët anomaly/SOPH). 31761904 2020