MYO5A, myosin VA, 4644

N. diseases: 82; N. variants: 4
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
CUI: C1836573
Disease: GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 3 		0.500 GermlineCausalMutation disease ORPHANET Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). 12897212 2003
CUI: C1836573
Disease: GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 3 		0.500 Biomarker disease GENOMICS_ENGLAND Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 12148598 2002
CUI: C1860157
Disease: Elejalde Disease
Elejalde Disease 		0.500 Biomarker disease GENOMICS_ENGLAND Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity. 12148598 2002
CUI: C1836573
Disease: GRISCELLI SYNDROME, TYPE 3
GRISCELLI SYNDROME, TYPE 3 		0.500 Biomarker disease GENOMICS_ENGLAND
CUI: C1860157
Disease: Elejalde Disease
Elejalde Disease 		0.500 GermlineCausalMutation disease ORPHANET
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE Griscelli syndrome (GS), a rare autosomal recessive disorder characterized by partial albinism and immunological impairment and/or severe neurological impairment, results from mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes. 20591709 2010
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutations in either the myosin VA (GS1), RAB27A (GS2) or melanophilin (GS3) genes. 19243575 2009
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE Griscelli syndrome (GS) is a rare autosomal recessive disorder caused by mutation in the MYO5A (GS1, Elejalde), RAB27A (GS2) or MLPH (GS3) genes. 19030707 2008
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE Griscelli syndrome (GS) is caused by mutations in the MYO5A (GS1), RAB27A (GS2), or MLPH (GS3) genes, all of which lead to a similar pigmentary dilution. 15163896 2004
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1). 12897212 2003
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE The two patients described elsewhere who have MYO5A mutations and neurological complications but no immunologic defects may not have GS but instead may have Elejalde syndrome, a condition characterized by mild hypopigmentation and severe, primary neurological abnormalities. 12058346 2002
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 Biomarker disease BEFREE arg-cys substitution at codon 1246 of the human myosin Va gene is not associated with Griscelli syndrome. 10733681 2000
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 GeneticVariation disease BEFREE We previously mapped the disease locus to 15q21 and showed that a MyoVa gene (HGMW-approved symbol MYO5A) defect leads to Griscelli syndrome. 10704277 2000
CUI: C0398794
Disease: Hypopigmentation-immunodeficiency disease
Hypopigmentation-immunodeficiency disease 		0.380 Biomarker disease GENOMICS_ENGLAND Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. 9207796 1997
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.310 Biomarker group BEFREE In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1·18 times; p=9·6×10(-3)) and MYO5A (1·93 times; p=3·2×10(-2)), involved in development and function of the nervous system. 20864405 2010
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		0.310 Biomarker group CTD_human In late-onset bortezomib-induced peripheral neuropathy, the significant genes were SOD2 (upregulated by 1·18 times; p=9·6×10(-3)) and MYO5A (1·93 times; p=3·2×10(-2)), involved in development and function of the nervous system. 20864405 2010
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		0.300 Biomarker disease CTD_human Systems level analysis and identification of pathways and networks associated with liver fibrosis. 25380136 2014
CUI: C3495588
Disease: Acrocephalopolydactylous Dysplasia
Acrocephalopolydactylous Dysplasia 		0.300 Biomarker disease GENOMICS_ENGLAND