Protanomaly Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description A type of anomalous trichromacy associated with defective long-wavelength-sensitive (L) cones, causing the sensitivity spectrum to be shifted toward medium wavelengths. This leads to difficulties especially in distinguishing red and green. (Human Phenotype Ontology, HP_0200018)
External Link https://www.disgenet.org/browser/0/1/0/C3887980
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Genes

19 genes associated with the disease Protanomaly in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
AR androgen receptor
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CD74 CD74 molecule, major histocompatibility complex, class II invariant chain
CREBBP CREB binding protein
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DOCK3 dedicator of cytokinesis 3
EIF4E eukaryotic translation initiation factor 4E
HLA-C major histocompatibility complex, class I, C
HMGB1 high mobility group box 1
KAT6A K(lysine) acetyltransferase 6A
MED1 mediator complex subunit 1
MPO myeloperoxidase
OPN1LW opsin 1 (cone pigments), long-wave-sensitive
PAG1 phosphoprotein membrane anchor with glycosphingolipid microdomains 1
PCBP4 poly(rC) binding protein 4
PEBP1 phosphatidylethanolamine binding protein 1
PKD1 polycystic kidney disease 1 (autosomal dominant)
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)
TINCR tissue differentiation-inducing non-protein coding RNA