Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.130 GeneticVariation disease BEFREE Five females and six males with a diagnosis of NR2E3-related retinal dystrophy were included in the study.All patients complained of nyctalopia. 30324420 2019
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.130 GeneticVariation disease BEFREE Enhanced S-cone syndrome (ESCS), also known as Goldmann-Favre syndrome, is a progressive retinal degeneration that frequently presents with night blindness and nummular pigment clumping around the vascular arcades and is caused by recessive mutations in the photoreceptor-specific NR2E3 transcription factor. 20171741 2010
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.130 GeneticVariation disease BEFREE Two patients with familial and 3 with sporadic early-onset nyctalopia and retinal pigment abnormalities were screened for mutations in the NR2E3 gene (OMIM 604485). 19139342 2009
CUI: C0028077
Disease: Nyctalopia
Nyctalopia
0.130 Biomarker disease HPO