SRP54, signal recognition particle 54, 6729

N. diseases: 96; N. variants: 4
Disease: Neutropenia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 GeneticVariation disease BEFREE In conclusion, autosomal dominant mutations in SRP54, a key member of the cotranslation protein-targeting pathway, lead to syndromic neutropenia with a Shwachman-Diamond-like phenotype. 28972538 2017
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.110 Biomarker disease HPO