Aliases & Classifications for Color Blindness

MalaCards integrated aliases for Color Blindness:

Name: Color Blindness 12 74 54 42 15 71
Colour Vision Deficiency 12
Color Vision Defect 71
Colour Blindness 12
Blindness Color 12
Dyschromatopsia 71
Colorblindness 36

Classifications:



External Ids:

Disease Ontology 12 DOID:13399
KEGG 36 H00976
ICD9CM 34 368.5
MeSH 43 D003117
NCIt 49 C3891
SNOMED-CT 67 53481002
ICD10 32 H53.5 H53.50
UMLS 71 C0009398 C0242225 C0858618

Summaries for Color Blindness

KEGG : 36 Colorblindness is the inability or decreased ability to perceive color differences. Dichromacy is a condition characterized by reduced dimension of color vision in which one of the three basic color mechanisms is absent or not functioning. Anomalous trichromacy is the milder form of color vision deficiency, with ability to discriminate between different colors in varying degrees but not normal. Dichromacy and anomalous trichromacy are subdivided into three types: protan, deutan, and tritan depending on the affected cone type. Protan and deuten types consist red-green defects. Inherited red-green color vision defects affect 8% of males. Tritan type defect leads to inherited blue-yellow defect that is fairly rare.

MalaCards based summary : Color Blindness, also known as colour vision deficiency, is related to color vision deficiency and tritanopia, and has symptoms including photophobia, other specified visual disturbances and visual disturbance. An important gene associated with Color Blindness is OPN1SW (Opsin 1, Short Wave Sensitive), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and cAMP signaling pathway. The drugs Eplerenone and Antihypertensive Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and retina, and related phenotypes are Decreased viability and Decreased viability

Disease Ontology : 12 A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions.

MedlinePlus : 42 Most of us see our world in color. We enjoy looking at a lush green lawn or a red rose in full bloom. If you have a color vision defect, you may see these colors differently than most people. There are three main kinds of color vision defects. Red-green color vision defects are the most common. This type occurs in men more than in women. The other major types are blue-yellow color vision defects and a complete absence of color vision. Most of the time, color blindness is genetic. There is no treatment, but most people adjust and the condition doesn't limit their activities.

Wikipedia : 74 Color blindness, also known as color vision deficiency, is the decreased ability to see color or... more...

Related Diseases for Color Blindness

Diseases in the Color Blindness family:

Acquired Color Blindness

Diseases related to Color Blindness via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 172)
# Related Disease Score Top Affiliating Genes
1 color vision deficiency 34.1 OPN1MW OPN1LW CNGA3
2 tritanopia 33.5 RHO PDE6H PDE6C OPN1SW GNAT2 CNGB3
3 red-green color blindness 33.5 RPGR RPE65 PDE6H PDE6C OPN1LW GNAT2
4 colorblindness, partial, protan series 33.1 PDE6H PDE6C OPN1LW GNAT2 CNGB3 CNGA3
5 achromatopsia 3 32.6 PDE6H PDE6C GUCY2D GNAT2 CNGB3 CNGB1
6 blue cone monochromacy 32.4 PDE6H PDE6C OPN1MW OPN1LW GUCY2D GNAT2
7 achromatopsia 4 32.2 PDE6H PDE6C GNAT2 CNGB3 CNGA3
8 achromatopsia 2 32.2 PDE6H PDE6C GNAT2 CNGB3 CNGB1 CNGA3
9 yemenite deaf-blind hypopigmentation syndrome 30.8 RPGR RPE65 RHO GUCY2D AIPL1 ABCA4
10 achromatopsia 30.1 RPGR RPE65 RHO PDE6H PDE6C PDE6A
11 night blindness 29.6 RPGR RPE65 RHO GUCY2D ABCA4
12 fundus albipunctatus 29.6 RPGR RPE65 RHO ABCA4
13 myopia 29.4 RPGR RHO OPN1LW CRYAA CNGB3
14 retinitis 29.1 RPGR RPE65 RHO PDE6A CNGB1 ABCA4
15 macular degeneration, age-related, 1 28.4 RPGR RPE65 RHO GUCY2D GNAT2 CRYAA
16 pathologic nystagmus 28.2 RPE65 RHO PDE6H PDE6C OPN1LW GUCY2D
17 cone dystrophy 28.2 RPGR RPE65 RHO PDE6H PDE6C OPN1MW
18 eye disease 28.1 RPGR RPE65 RHO OPN1SW GUCY2D CRYAA
19 congenital stationary night blindness 26.8 RPGR RPE65 RHO PDE6C PDE6A GUCY2D
20 acquired color blindness 12.6
21 colorblindness, partial, deutan series 11.7
22 cone dystrophy 4 11.2
23 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
24 achromatopsia 7 11.1
25 bornholm eye disease 10.6 OPN1MW OPN1LW
26 retinitis pigmentosa 44 10.5 CNGB3 CNGA3
27 severe early-childhood-onset retinal dystrophy 10.4 RPE65 ABCA4
28 cone-rod dystrophy, x-linked, 2 10.4 RPGR OPN1LW
29 stargardt macular degeneration 10.4 RHO ABCA4
30 solar retinopathy 10.4 RHO ABCA4
31 stargardt disease 1 10.4 CNGB3 ABCA4
32 night blindness, congenital stationary, type 2a 10.4 PDE6H CRYAA
33 partial central choroid dystrophy 10.4 GUCY2D ABCA4
34 hereditary choroidal atrophy 10.4 GUCY2D ABCA4
35 cone-rod dystrophy 9 10.4 GUCY2D CNGB3
36 leber congenital amaurosis / early-onset severe retinal dystrophy 10.3 RPE65 AIPL1
37 amelogenesis imperfecta, type ia 10.3 RHO G6PD
38 retinitis pigmentosa 4 10.3 RPGR RHO
39 oligocone trichromacy 10.3 PDE6C GNAT2 CNGB3 CNGA3
40 occult macular dystrophy 10.3 GUCY2D ABCA4
41 retinitis pigmentosa 35 10.3 RPGR CNGB1
42 jalili syndrome 10.3 PDE6C GNAT2 CNGB3 CNGA3
43 cone-rod dystrophy, x-linked, 3 10.3 RPGR CRYAA
44 leber congenital amaurosis 16 10.3 GUCY2D AIPL1
45 leber congenital amaurosis 11 10.3 GUCY2D AIPL1
46 leber congenital amaurosis 7 10.3 GUCY2D AIPL1
47 cone-rod dystrophy, x-linked, 1 10.3 RPGR OPN1LW
48 retinitis pigmentosa 45 10.3 CNGB1 CNGA1
49 macular degeneration, age-related, 2 10.3 RPE65 RHO ABCA4
50 cone-rod dystrophy 12 10.3 GUCY2D AIPL1

Graphical network of the top 20 diseases related to Color Blindness:



Diseases related to Color Blindness

Symptoms & Phenotypes for Color Blindness

UMLS symptoms related to Color Blindness:


photophobia, other specified visual disturbances, visual disturbance, subjective visual disturbance, unspecified

GenomeRNAi Phenotypes related to Color Blindness according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-2 10.09 GUCY2D
2 Decreased viability GR00221-A-1 10.09 GUCY2D
3 Decreased viability GR00221-A-2 10.09 GUCY2D
4 Decreased viability GR00221-A-3 10.09 GUCY2D
5 Decreased viability GR00221-A-4 10.09 GUCY2D
6 Decreased viability GR00240-S-1 10.09 GUCY2D OPN1SW
7 Decreased viability GR00402-S-2 10.09 ABCA4 AIPL1 CNGA1 CNGA3 CNGB1 CNGB3
8 no effect GR00402-S-1 9.62 ABCA4 AIPL1 CNGA1 CNGA3 CNGB1 CNGB3

MGI Mouse Phenotypes related to Color Blindness:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.77 ABCA4 AIPL1 CNGA3 CNGB3 G6PD GNAT2
2 vision/eye MP:0005391 9.47 ABCA4 AIPL1 CNGA3 CNGB3 GNAT2 GUCY2D

Drugs & Therapeutics for Color Blindness

Drugs for Color Blindness (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 52)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Eplerenone Approved Phase 2, Phase 3 107724-20-9 150310 443872
2 Antihypertensive Agents Phase 2, Phase 3
3 Hormone Antagonists Phase 2, Phase 3
4 Mineralocorticoids Phase 2, Phase 3
5 Natriuretic Agents Phase 2, Phase 3
6 Mineralocorticoid Receptor Antagonists Phase 2, Phase 3
7 Diuretics, Potassium Sparing Phase 2, Phase 3
8 Hormones Phase 2, Phase 3
9 diuretics Phase 2, Phase 3
10
Histamine Approved, Investigational Phase 1 51-45-6 774
11
Clemastine Approved, Investigational Phase 1 15686-51-8 26987
12 Dermatologic Agents Phase 1
13 Histamine H1 Antagonists Phase 1
14
Histamine Phosphate Phase 1 51-74-1 65513
15 Antipruritics Phase 1
16 Histamine Antagonists Phase 1
17 Anti-Allergic Agents Phase 1
18 Orange Approved
19
Sodium citrate Approved, Investigational 68-04-2
20
Tranexamic Acid Approved 1197-18-8 5526
21
Glycerol Approved, Investigational Early Phase 1 56-81-5 753
22
carbamide peroxide Approved Early Phase 1 124-43-6
23
Dopamine Approved 51-61-6, 62-31-7 681
24
Aripiprazole Approved, Investigational 129722-12-9 60795
25
Citric acid Approved, Nutraceutical, Vet_approved 77-92-9 311
26
Vitamin C Approved, Nutraceutical 50-81-7 5785 54670067
27
Melatonin Approved, Nutraceutical, Vet_approved 73-31-4 896
28 Caseins
29 Vitamins
30 Citrate
31 Hemostatics
32 Pharmaceutical Solutions
33 Coagulants
34 Antifibrinolytic Agents
35 4-phenylbutyric acid Early Phase 1
36 Protective Agents Early Phase 1
37 Neurotransmitter Agents
38 Antipsychotic Agents
39 Central Nervous System Depressants
40 Tranquilizing Agents
41 Dopamine D2 Receptor Antagonists
42 Psychotropic Drugs
43 Dopamine Agents
44 Serotonin 5-HT1 Receptor Agonists
45 Dopamine Antagonists
46 Serotonin 5-HT2 Receptor Antagonists
47 Antidepressive Agents
48 Dopamine agonists
49 Serotonin Receptor Agonists
50 Serotonin Agents

Interventional clinical trials:

(show all 20)
# Name Status NCT ID Phase Drugs
1 A Randomized, Double-masked, Placebo Controlled Study of the Beneficial Effects of Eplerenone on Central Serous Chorioretinopathy Unknown status NCT02215330 Phase 2, Phase 3 Eplerenone;Maltodextrin
2 Effect of Clemastine Fumarate on Color Vision in Healthy Controls Completed NCT02613091 Phase 1 Clemastine fumarate
3 Examining the Neural Bases of Early Visual and Auditory Processing and Emotion Recognition Deficits in Schizophrenia Using Magnetoencephalography Unknown status NCT02588014
4 Evaluating Color Perception Under LED Red/Green and Green Dominant Light Completed NCT01927536
5 Prevalence and Severity of Colour Vision Deficiency Among Turkish Children Completed NCT04048499
6 Incidence of Dyschromatopsia in Glaucoma Completed NCT02966678
7 Color Vision Tests in Children: Comparison of Standardized and Computer-assisted Examination Completed NCT02464241
8 Visual Activity Evoked by Infrared in Humans After Dark Adaptation Completed NCT02909985
9 A Randomised, Double-blind, Parallel Groups, Placebo-controlled 6 Week Human Intervention Study Investigating the Effect of a Phospholipid Drink on Cognitive Performance in 6-8 Year Old School Children Completed NCT03705572
10 A Study of the Acute and Chronic Effects of 100% Florida Orange Juice Consumption on Cognitive Performance in 7-10 Year Old UK School Children Completed NCT02725775
11 Predictive Effect of Ganglion Cell Layer on Visual Acuity at 6 Months and on Visual Function at 1 Year After an Episode of Optic Neuritis Completed NCT02864134
12 Intravenous Tranexamic Acid and Intraoperative Visualization During Functional Endoscopic Sinus Surgery: A Double Blind Randomized Controlled Trial Completed NCT01111669 Tranexamic Acid;Normal Saline (placebo)
13 Evning Exposure to Computer Screen Disrupts Sleep, Attention and Biological Rhythms Completed NCT02957383
14 Biomarker for Duchenne Disease AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT02994030
15 Anthropogenetic Variability in the Group of Individuals With Febrile Seizures Population Genetic Study Recruiting NCT03481764
16 Investigation of the Effect of Protanopia ("Red Blindness") on the Brightness Perception of Brake Lights and Their Effect on Reaction Time Not yet recruiting NCT04060238
17 Evaluation of Glycerol Phenylbutyrate (PBA) Use in Endoplasmic Reticulum Stress Reduction in ATF6-/- Patients Not yet recruiting NCT04041232 Early Phase 1 PBA
18 The Impact of Concurrent Brain Stimulation and Working Memory Training on Cognitive Performance in Acquired Brain Injury Not yet recruiting NCT04010149
19 Aripiprazole Effects on Reward Processing in Deficit Syndrome Schizophrenia Terminated NCT00209027 Aripiprazole
20 Prevalence of Dyschromatopsia in Glaucoma Patients Withdrawn NCT01994564

Search NIH Clinical Center for Color Blindness

Genetic Tests for Color Blindness

Anatomical Context for Color Blindness

MalaCards organs/tissues related to Color Blindness:

40
Testes, Eye, Retina, Brain, Liver, Cortex, Bone

Publications for Color Blindness

Articles related to Color Blindness:

(show top 50) (show all 757)
# Title Authors PMID Year
1
Prevalence of Color Blindness in Undergraduates of Kathmandu University. 61 42
31065132 2018
2
Prevalence of congenital colour vision deficiency among Black school children in Durban, South Africa. 42
31182158 2019
3
Improving Discrimination in Color Vision Deficiency by Image Re-Coloring. 42
31096676 2019
4
Evidence of a predisposing locus to bipolar disorder on Xq24-q27.1 in an extended Finnish pedigree. 54 61
9132265 1995
5
Linkage analysis of bipolar illness with X-chromosome DNA markers: a susceptibility gene in Xq27-q28 cannot be excluded. 54 61
7726217 1994
6
Linkage disequilibrium between glucose-6-phosphate dehydrogenase deficiency and congenital color blindness in Turkish population. 54 61
1635293 1992
7
Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. 54 61
1973904 1990
8
X-chromosome markers and manic-depressive illness. Rejection of linkage to Xq28 in nine bipolar pedigrees. 54 61
2322087 1990
9
Connecting endoplasmic reticulum and oxidative stress to retinal degeneration, TBI, and traumatic optic neuropathy. 61
31642095 2020
10
Manipulating the hydrophobicity of DNA as a universal strategy for visual biosensing. 61
31915388 2020
11
A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants. 61
31810438 2019
12
Optic Neuropathy, Secondary to Ethmoiditis, and Onodi Cell Inflammation during Childhood: A Case Report and Review of the Literature. 61
31330559 2019
13
[Leber's Hereditary Optic Neuropathy]. 61
31639883 2019
14
Incidence of dyschromatopsy in glaucoma. 61
31705359 2019
15
Toxic-Metabolic and Hereditary Optic Neuropathies. 61
31584537 2019
16
Blue-yellow dyschromatopsia in toluene-exposed workers. 61
30683999 2019
17
[Efficacy and Safety Profile of Ocriplasmin Treatment - an Update]. 61
28599332 2019
18
Pattern of ocular morbidities: A cross-sectional study on school-going children in Shillong city. 61
31334191 2019
19
Color Vision Deficiency Among Doctors: Can We Make Useful Adaptations to the Color Codes Used in the Clinical Environment? 61
31157739 2019
20
Age-Related Changes in the Clinical Phenotype of Compressive Optic Neuropathy in Thyroid Eye Disease. 61
30234838 2019
21
Color blindness in the medical workplace: Researchers are debating the role of color in disciplines such as pathology and working toward broader solutions to address color vision deficiencies among medical personnel. 61
30951266 2019
22
Genome-wide scans of myopia in Pennsylvania Amish families reveal significant linkage to 12q15, 8q21.3 and 5p15.33. 61
30826882 2019
23
Ophthalmic, systemic, and genetic characteristics of patients with Wolfram syndrome. 61
30957632 2019
24
Atypical Case of Rosai-Dorfman Disease of the Lacrimal Gland with Adjacent Bone Erosion. 61
30976592 2019
25
Review of the main colour vision clinical assessment tests. 61
30361001 2019
26
Bilateral Syphilitic Optic Neuropathy with Secondary Autoimmune Optic Neuropathy and Poor Visual Outcome. 61
31043959 2019
27
Transient Dyschromatopsia, Static Form Agnosia, and Prosopagnosia Observed in a Patient with Anti-NMDA Receptor Encephalitis. 61
31061739 2019
28
HDAC Inhibition Prevents Primary Cone Degeneration Even After the Onset of Degeneration. 61
31884642 2019
29
Pigmented contact lenses for managing ocular disorders. 61
30465853 2019
30
Prevalence of visual impairment among school children in three primary schools of Sekela Woreda, Amhara regional state, north-west Ethiopia. 61
31205693 2019
31
Mentoring the mentors of students from diverse backgrounds for research. 61
31070417 2019
32
Prevalence of color blindness among school children in three primary schools of Gish -Abay town district, Amhara regional state, north-west Ethiopia. 61
30477452 2018
33
Multimodal imaging in a pedigree of X-linked Retinoschisis with a novel RS1 variant. 61
30419843 2018
34
Neuroretinitis: a review. 61
30148725 2018
35
Non-arteritic ischemic optic neuropathy and supplemental nitric oxide usage. 61
30014049 2018
36
Longitudinal Cognitive Changes in Young Individuals at Ultrahigh Risk for Psychosis. 61
30046827 2018
37
Congenital grouped albinotic spots of the retinal pigment epithelium in a patient with hemihypertrophy and café au lait spots. 61
29770905 2018
38
Macular toxicity and blind spot enlargement during a treatment by voriconazole: A case report. 61
29623723 2018
39
Contact Lenses for Color Blindness. 61
29696828 2018
40
Genetic Testing in Pediatric Ophthalmology. 61
28971364 2018
41
Negative dysphotopsia and dyschromatopsia: February consultation #1. 61
29587981 2018
42
Neurological and Neurophysiological Findings in Workers with Chronic 2,3,7,8-Tetrachlorodibenzo-p-Dioxin Intoxication 50 Years After Exposure. 61
28862800 2018
43
Color Processing in Zebrafish Retina. 61
30337857 2018
44
Effects of a shade-matching light and background color on reliability in tooth shade selection. 61
29687098 2018
45
Rod Monochromatism (Achromatopsia). 61
30578497 2018
46
Gene Therapy for Color Blindness. 61
29259520 2017
47
Picosecond Laser Treatment for Tattoos and Benign Cutaneous Pigmented Lesions (Secondary publication). 61
29434427 2017
48
Occupational styrene exposure and acquired dyschromatopsia: A systematic review and meta-analysis. 61
28836685 2017
49
Color vision test to differentiate Alzheimer's disease from vascular dementia. 61
28625199 2017
50
Lower face asymmetry as a marker for developmental instability. 61
28398004 2017

Variations for Color Blindness

ClinVar genetic disease variations for Color Blindness:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EYS NM_001142800.2(EYS):c.8519A>G (p.Glu2840Gly)SNV Uncertain significance 523415 rs1554163965 6:64431408-64431408 6:63721512-63721512

Copy number variations for Color Blindness from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 219466 7 127100000 129200000 Gain or loss OPN1SW Colorblindness

Expression for Color Blindness

Search GEO for disease gene expression data for Color Blindness.

Pathways for Color Blindness

GO Terms for Color Blindness

Cellular components related to Color Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.91 RHO OPN1SW OPN1MW OPN1LW GUCY2D CNGA1
2 photoreceptor inner segment GO:0001917 9.62 RHO OPN1SW GNAT2 AIPL1
3 photoreceptor disc membrane GO:0097381 9.5 RHO PDE6A OPN1SW OPN1MW OPN1LW GUCY2D
4 photoreceptor outer segment membrane GO:0042622 9.46 RHO PDE6H GNAT2 CNGA1
5 transmembrane transporter complex GO:1902495 9.43 CNGB3 CNGB1 CNGA3
6 Golgi-associated vesicle membrane GO:0030660 9.4 RHO CNGB1
7 photoreceptor outer segment GO:0001750 9.36 RPGR RHO OPN1SW OPN1MW OPN1LW GUCY2D

Biological processes related to Color Blindness according to GeneCards Suite gene sharing:

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.21 RHO PDE6C PDE6A OPN1SW OPN1MW OPN1LW
2 response to stimulus GO:0050896 9.91 RPGR RPE65 RHO PDE6H PDE6C PDE6A
3 retinoid metabolic process GO:0001523 9.8 RPE65 RHO OPN1SW OPN1MW OPN1LW ABCA4
4 cellular response to light stimulus GO:0071482 9.76 RHO OPN1SW OPN1MW OPN1LW
5 cation transport GO:0006812 9.74 CNGB3 CNGB1 CNGA3
6 retina development in camera-type eye GO:0060041 9.73 RPE65 RHO PDE6A
7 protein-chromophore linkage GO:0018298 9.73 RHO OPN1SW OPN1MW OPN1LW
8 phototransduction GO:0007602 9.73 RHO OPN1SW OPN1MW OPN1LW GNAT2 CNGB1
9 cation transmembrane transport GO:0098655 9.72 CNGB3 CNGB1 CNGA1
10 retina homeostasis GO:0001895 9.71 RPE65 CNGB1 AIPL1
11 rhodopsin mediated signaling pathway GO:0016056 9.71 RHO PDE6A CNGB1 CNGA1
12 photoreceptor cell maintenance GO:0045494 9.7 RHO CNGB1 ABCA4
13 detection of light stimulus involved in visual perception GO:0050908 9.67 RPE65 GNAT2 CNGB1
14 phototransduction, visible light GO:0007603 9.67 RHO PDE6C AIPL1 ABCA4
15 detection of visible light GO:0009584 9.65 OPN1SW OPN1MW OPN1LW
16 regulation of rhodopsin mediated signaling pathway GO:0022400 9.63 RHO PDE6A GUCY2D CNGB1 CNGA1 AIPL1
17 sensory perception of light stimulus GO:0050953 9.58 RHO PDE6C
18 retinal cone cell development GO:0046549 9.58 PDE6C GNAT2
19 visual perception GO:0007601 9.58 RPGR RPE65 RHO PDE6H PDE6C PDE6A

Molecular functions related to Color Blindness according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 photoreceptor activity GO:0009881 9.62 RHO OPN1SW OPN1MW OPN1LW
2 3',5'-cyclic-GMP phosphodiesterase activity GO:0047555 9.58 PDE6H PDE6C PDE6A
3 intracellular cAMP-activated cation channel activity GO:0005222 9.56 CNGB3 CNGB1 CNGA3 CNGA1
4 intracellular cyclic nucleotide activated cation channel activity GO:0005221 9.54 CNGB3 CNGB1 CNGA1
5 intracellular cGMP-activated cation channel activity GO:0005223 9.46 CNGB3 CNGB1 CNGA3 CNGA1
6 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.43 PDE6H PDE6C
7 G protein-coupled photoreceptor activity GO:0008020 9.35 RHO OPN1SW OPN1MW OPN1LW GNAT2
8 cGMP binding GO:0030553 9.1 PDE6H PDE6C CNGB3 CNGB1 CNGA3 CNGA1

Sources for Color Blindness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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