SRP54, signal recognition particle 54, 6729

N. diseases: 96; N. variants: 4
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859966
Disease: Neutropenia, Severe Congenital, Autosomal Dominant 1
Neutropenia, Severe Congenital, Autosomal Dominant 1 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome. 29914977 2018