OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Processing of OPA1 with a novel N-terminal mutation in patients with autosomal dominant optic atrophy: Escape from nonsense-mediated decay. 28841713 2017
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR A multiple sclerosis-like disorder in patients with OPA1 mutations. 27656661 2016
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Fatal infantile mitochondrial encephalomyopathy, hypertrophic cardiomyopathy and optic atrophy associated with a homozygous OPA1 mutation. 26561570 2016
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Recessive optic atrophy, sensorimotor neuropathy and cataract associated with novel compound heterozygous mutations in OPA1. 27150940 2016
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Genotype-phenotype heterogeneity of ganglion cell and inner plexiform layer deficit in autosomal-dominant optic atrophy. 26385429 2015
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Novel OPA1 missense mutation in a family with optic atrophy and severe widespread neurological disorder. 23387428 2013
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Sensorineural hearing loss in OPA1-linked disorders. 23384603 2013
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Dominant optic atrophy in Denmark - report of 15 novel mutations in OPA1, using a strategy with a detection rate of 90%. 22857269 2012
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Multi-system neurological disease is common in patients with OPA1 mutations. 20157015 2010
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Optic atrophy and sensorineural hearing loss in a family caused by an R445H OPA1 mutation. 16158427 2005
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy. 14961560 2003
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy. 12566046 2003
dbSNP: rs794727804
rs794727804
Entrez Id: 4976
Gene Symbol: OPA1
OPA1
CUI: C0026827
Disease:
Muscle hypotonia 		C 0.700 CausalMutation CLINVAR The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene. 14644237 2003