Disease: Disorder of the optic nerve ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.040 GeneticVariation group BEFREE Our results identify novel compound heterozygous mutations in RTN4IP1 which are associated with OPA10, highlighting the frequency of RTN4IP1 mutations in human autosomal recessive IONs. 31077085 2019
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.040 GeneticVariation group BEFREE Recessive RTN4IP1 gene mutations have been shown to cause isolated and syndromic optic neuropathies. 29181510 2018
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.040 GeneticVariation group BEFREE Siblings with optic neuropathy and RTN4IP1 mutation. 28638143 2017
CUI: C0029132
Disease: Disorder of the optic nerve
Disorder of the optic nerve 		0.040 GeneticVariation group BEFREE Recessive Mutations in RTN4IP1 Cause Isolated and Syndromic Optic Neuropathies. 26593267 2015