OPA1, OPA1 mitochondrial dynamin like GTPase, 4976

N. diseases: 236; N. variants: 68
Disease: Behr syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 GeneticVariation disease BEFREE This case adds to a growing number of patients recently discovered with bi-allelic OPA1 mutations presenting with a complex and early onset neurological disorder resembling Behr syndrome. 30972688 2019
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 GeneticVariation disease BEFREE The presence of Leigh-like neuroimaging features is a novel finding in Behr syndrome and further adds to the complex genotype-phenotype correlations in OPA1-associated disorders. 28442211 2017
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 Biomarker disease BEFREE Thus, OPA1 gene screening is advisable in the workup of patients with recessive optic atrophy, particularly with Behr syndrome and cataracts. 27150940 2016
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 Biomarker disease BEFREE Generation of optic atrophy 1 patient-derived induced pluripotent stem cells (iPS-OPA1-BEHR) for disease modeling of complex optic atrophy syndromes (Behr syndrome). 27879217 2016
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 GeneticVariation disease UNIPROT 'Behr syndrome' with OPA1 compound heterozygote mutations. 25146916 2015
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 GeneticVariation disease UNIPROT Early-onset Behr syndrome due to compound heterozygous mutations in OPA1. 25012220 2014
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 GeneticVariation disease UNIPROT Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations. 21636302 2011
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 CausalMutation disease CLINVAR
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 Biomarker disease CTD_human
CUI: C0221061
Disease: Behr syndrome
Behr syndrome 		0.740 Biomarker disease GENOMICS_ENGLAND