blue cone monochromacy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in recessive X-linked inheritance. (Human Disease Ontology, DOID_0050679)
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Genes

12 genes co-occuring with the disease blue cone monochromacy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
OPN1LW opsin 1 (cone pigments), long-wave-sensitive 2.47474
OPN1MW2 opsin 1 (cone pigments), medium-wave-sensitive 2 2.22499
OPN1MW opsin 1 (cone pigments), medium-wave-sensitive 2.1608
TEX28P2 testis expressed 28 pseudogene 2 1.97877
TEX28 testis expressed 28 1.97877
CNGB3 cyclic nucleotide gated channel beta 3 1.17636
SOX3 SRY (sex determining region Y)-box 3 1.1635
CNGA3 cyclic nucleotide gated channel alpha 3 1.13755
NYX nyctalopin 1.11267
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.95369
RHO rhodopsin 0.893769
GLB1 galactosidase, beta 1 0.412031
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