Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.020 GeneticVariation disease BEFREE RTN4IP1 has recently been identified as the third known gene associated with the autosomal recessive ION optic atrophy 10 (OPA10). 31077085 2019
Entrez Id: 84816
Gene Symbol: RTN4IP1
RTN4IP1
0.020 GeneticVariation disease BEFREE A broad clinical spectrum of neurologic features, ranging from isolated optic atrophy to severe early-onset encephalopathies, is associated with RTN4IP1 biallelic mutations and should prompt RTN4IP1 screening in both syndromic neurologic presentations and nonsyndromic recessive optic neuropathies. 29181510 2018