MYO5A, myosin VA, 4644

N. diseases: 82; N. variants: 4
Disease: GRISCELLI SYNDROME, TYPE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 Biomarker disease MGD Mutations of the myosin Va gene cause the neurological diseases Griscelli syndrome type 1 and Elejalde syndrome in humans and dilute phenotypes in rodents. 21508232 2011
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 Biomarker disease MGD Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations. 9560409 1998
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 Biomarker disease GENOMICS_ENGLAND Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. 9207796 1997
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 GermlineCausalMutation disease ORPHANET
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 Biomarker disease CTD_human
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C1859194
Disease: GRISCELLI SYNDROME, TYPE 1
GRISCELLI SYNDROME, TYPE 1 		0.900 CausalMutation disease CLINVAR