VPS53, VPS53 subunit of GARP complex, 55275

N. diseases: 49; N. variants: 9
Disease: PEHO syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850055
Disease: PEHO syndrome
PEHO syndrome 		0.010 GeneticVariation disease BEFREE The discovery that mutations in both VPS53 and SEPSECS can present with a PEHO-like phenotype, place PCCA and PEHO on the same clinical spectrum and suggest they may be allelic syndromes. 30100179 2018