Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy. 25159689 2015
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. 25657044 2015
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep. 26190011 2015
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR Costeff syndrome: clinical features and natural history. 25201222 2014
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network. 24136862 2013
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 GeneticVariation disease BEFREE The molecular findings in OPA3 are also reviewed, including mutations in OPA3 that result in autosomal dominant optic atrophy and cataract (ADOAC). 18985435 2008
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 GermlineCausalMutation disease ORPHANET OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 15342707 2004
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 15342707 2004
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 GeneticVariation disease UNIPROT OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract. 15342707 2004
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 CausalMutation disease CLINVAR Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews. 11668429 2001
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 Biomarker disease CTD_human
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT 		0.710 GeneticVariation disease CLINVAR