Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
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
Entrez Id: 6729
Gene Symbol: SRP54
SRP54
0.110 Biomarker disease HPO