SRP54, signal recognition particle 54, 6729

N. diseases: 96; N. variants: 4
Disease: SHWACHMAN-DIAMOND SYNDROME 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4692625
Disease: SHWACHMAN-DIAMOND SYNDROME 1
SHWACHMAN-DIAMOND SYNDROME 1 		0.100 CausalMutation disease CLINVAR Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features. 28972538 2017