Phenotype: Dyschromatopsia (HP:0007641)
Associated genes and diseases:
gene_symbol: DNM1L
disease_id: OMIM:610708
disease_name: OPTIC ATROPHY 5
gene_symbol: RBP4
disease_id: OMIM:615147
disease_name: RETINAL DYSTROPHY, IRIS COLOBOMA, AND COMEDOGENIC ACNE SYNDROME
gene_symbol: NR2E3
disease_id: OMIM:611131
disease_name: RETINITIS PIGMENTOSA 37
gene_symbol: NDUFS2
disease_id: OMIM:620569
disease_name: LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 2
gene_symbol: MFSD8
disease_id: OMIM:616170
disease_name: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
gene_symbol: C1QTNF5
disease_id: ORPHA:67042
disease_name: Late-onset retinal degeneration
Autosomal dominant late-onset retinal degeneration
LORD
gene_symbol: ACO2
disease_id: OMIM:616289
disease_name: OPTIC ATROPHY 9
gene_symbol: OPA3
disease_id: ORPHA:67036
disease_name: Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy type 3
OPA3, autosomal dominant
gene_symbol: FGF14
disease_id: ORPHA:98764
disease_name: Spinocerebellar ataxia type 27A
SCA27A
gene_symbol: PAX6
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: FOXC1
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: TRIM44
disease_id: ORPHA:250923
disease_name: Isolated aniridia
gene_symbol: PDE6C
disease_id: OMIM:613093
disease_name: CONE DYSTROPHY 4
gene_symbol: MTRFR
disease_id: ORPHA:254930
disease_name: Combined oxidative phosphorylation defect type 7
COXPD7
Severe C12ORF65-related COXPD
Severe C12ORF65-related combined oxidative phosphorylation defect
gene_symbol: IMPG1
disease_id: OMIM:153870
disease_name: MACULAR DYSTROPHY, CONCENTRIC ANNULAR
gene_symbol: PROM1
disease_id: OMIM:608051
disease_name: MACULAR DYSTROPHY, RETINAL, 2
gene_symbol: PROM1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CEP78
disease_id: OMIM:617236
disease_name: CONE-ROD DYSTROPHY AND HEARING LOSS 1
gene_symbol: PDE6H
disease_id: OMIM:610024
disease_name: RETINAL CONE DYSTROPHY 3A
gene_symbol: POLG
disease_id: OMIM:258450
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 1
gene_symbol: POLG
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: TMEM126A
disease_id: OMIM:612989
disease_name: OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
gene_symbol: MCAT
disease_id: OMIM:620583
disease_name: OPTIC ATROPHY 15
gene_symbol: OPN1SW
disease_id: OMIM:190900
disease_name: TRITANOPIA
gene_symbol: GRK1
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: SAG
disease_id: ORPHA:75382
disease_name: Oguchi disease
Congenital stationary night blindness, Oguchi type
Oguchi syndrome
gene_symbol: GUCY2D
disease_id: OMIM:601777
disease_name: CONE-ROD DYSTROPHY 6
gene_symbol: GUCY2D
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: CNGB3
disease_id: OMIM:262300
disease_name: ACHROMATOPSIA 3
gene_symbol: TK2
disease_id: ORPHA:254886
disease_name: Autosomal recessive progressive external ophthalmoplegia
arPEO
gene_symbol: MECR
disease_id: OMIM:620629
disease_name: OPTIC ATROPHY 16
gene_symbol: ATF6
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: NMNAT1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAX2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGRIP1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ABCA4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CNGA3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CDHR1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1LW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PRPH2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PRPH2
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: CFAP410
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA1F
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: ADAM9
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RIMS1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: DRAM2
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RPGR
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: OPN1MW
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CRX
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: UNC119
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CACNA2D4
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCA1A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: UBAP1L
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: POC1B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: SEMA4A
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: PITPNM3
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TTLL5
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: TLCD3B
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: CFAP418
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: AIPL1
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: RAB28
disease_id: ORPHA:1872
disease_name: Cone rod dystrophy
gene_symbol: MORC2
disease_id: ORPHA:466768
disease_name: Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation
CMT2Z
gene_symbol: BEST1
disease_id: OMIM:193220
disease_name: VITREORETINOCHOROIDOPATHY
gene_symbol: AFG3L2
disease_id: OMIM:618977
disease_name: OPTIC ATROPHY 12
gene_symbol: OPA1
disease_id: OMIM:125250
disease_name: OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY