CORD2
MCID: CNR004
MIFTS: 71

Cone-Rod Dystrophy 2 (CORD2)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cone-Rod Dystrophy 2

MalaCards integrated aliases for Cone-Rod Dystrophy 2:

Name: Cone-Rod Dystrophy 2 56 12 52 73 29 6 15 37 71
Cone-Rod Dystrophy 56 12 74 52 25 29 54 6 15
Cord2 56 12 52 73
Cone-Rod Retinal Dystrophy 2 12 52 73
Cone-Rod Retinal Dystrophy 56 12 25
Rcrd2 56 12 52
Crd2 12 52 73
Cone-Rod Retinal Dystrophy-2 56 13
Retinal Cone-Rod Dystrophy 2 12 52
Retinal Cone-Rod Dystrophy 56 25
Cone Rod Dystrophy 58 6
Cord 56 25
Crd 56 25
Cone-Rod Retinal Dystrophy; Crd; Crd2 56
Retinal Cone-Rod Dystrophy; Rcrd2 56
Progressive Cone-Rod Dystrophy 71
Dystrophy, Cone-Rod, Type 2 39
Tapetoretinal Degeneration 25
Cone-Rod Dystrophy; Cord 56
Retinitis Pigmentosa 2 71
Cone-Rod Degeneration 25
Retinitis Pigmentosa 71
Dystrophy, Cone-Rod 39

Characteristics:

Orphanet epidemiological data:

58
cone rod dystrophy
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant (19q13.1-q13.2)


HPO:

31
cone-rod dystrophy 2:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050572 DOID:0111005
OMIM 56 120970
OMIM Phenotypic Series 56 PS120970
MeSH 43 D058499
ICD10 32 H35.5
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA1872
UMLS 71 C0035334 C0339530 C2681923 more

Summaries for Cone-Rod Dystrophy 2

Genetics Home Reference : 25 Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate. The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired color vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus). There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.

MalaCards based summary : Cone-Rod Dystrophy 2, also known as cone-rod dystrophy, is related to cone-rod dystrophy 6 and cone-rod dystrophy 3. An important gene associated with Cone-Rod Dystrophy 2 is CRX (Cone-Rod Homeobox), and among its related pathways/superpathways are Metabolism of fat-soluble vitamins and Visual Cycle in Retinal Rods. The drugs Acetazolamide and Cyclobenzaprine have been mentioned in the context of this disorder. Affiliated tissues include Eye, and related phenotypes are nyctalopia and abnormality of retinal pigmentation

Disease Ontology : 12 A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells.

NIH Rare Diseases : 52 Cone-rod dystrophy (CRD) is a group of inherited eye disorders that affect the light sensitive cells of the retina called the cones and rods . People with this condition experience vision loss over time as the cones and rods deteriorate. Initial signs and symptoms that usually occur in childhood may include decreased sharpness of vision (visual acuity) and abnormal sensitivity to light (photophobia). These signs are usually followed by blind spots in the central field of vision (scotomas), loss of color perception, and loss of peripheral vision. Most individuals with this condition are legally blind by mid adulthood. There are over 30 types of CRD caused by mutations in several different genes that can be inherited in many different ways including autosomal recessive , autosomal dominant , X-linked or mitochondrial patterns. CRDs are usually non-syndromic, but they may also be part of several syndromes . There is no cure for CRD; however, there may be ways to slow the disease process. Depending on the underlying cause of CRD and other associated symptoms, research may be ongoing to try to identify an effective treatment.

OMIM : 56 Cone-rod dystrophy (CORD) characteristically leads to early impairment of vision. An initial loss of color vision and of visual acuity is followed by nyctalopia (night blindness) and loss of peripheral visual fields. In extreme cases, these progressive symptoms are accompanied by widespread, advancing retinal pigmentation and chorioretinal atrophy of the central and peripheral retina (Moore, 1992). In many families, perhaps a majority, central and peripheral chorioretinal atrophy is not found (Tzekov, 1998). (120970)

UniProtKB/Swiss-Prot : 73 Cone-rod dystrophy 2: An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.

Wikipedia : 74 A cone dystrophy is an inherited ocular disorder characterized by the loss of cone cells, the... more...

Related Diseases for Cone-Rod Dystrophy 2

Diseases in the Cone-Rod Dystrophy 2 family:

Cone-Rod Dystrophy 1 Cone-Rod Dystrophy 5
Cone-Rod Dystrophy 6 Cone-Rod Dystrophy 7
Cone-Rod Dystrophy 3 Cone-Rod Dystrophy 8
Cone-Rod Dystrophy 13 Cone-Rod Dystrophy 10
Cone-Rod Dystrophy 11 Cone-Rod Dystrophy 12
Cone-Rod Dystrophy 9 Cone-Rod Dystrophy 15
Cone-Rod Dystrophy 16 Cone-Rod Dystrophy 17
Cone-Rod Dystrophy 18 Cone-Rod Dystrophy 19
Cone-Rod Dystrophy 20 Cone-Rod Dystrophy 21

Diseases related to Cone-Rod Dystrophy 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 3221)
# Related Disease Score Top Affiliating Genes
1 cone-rod dystrophy 6 36.6 RPGRIP1 RPGR PRPH2 GUCY2D GUCA1A CERKL
2 cone-rod dystrophy 3 36.5 UNC119 RIMS1 GUCY2D CRX CACNA1F CABP4
3 cone-rod dystrophy 12 36.2 UNC119 RIMS1 PROM1 GUCY2D GUCA1A
4 cone-rod dystrophy, x-linked, 3 36.2 RPGR CACNA2D4 CACNA1F CABP4
5 cone-rod dystrophy 5 36.1 RIMS1 GUCY2D CABP4
6 cone-rod dystrophy 7 35.9 RIMS1 CABP4
7 cone-rod dystrophy 13 35.8 RPGRIP1 RPGR
8 cone-rod dystrophy 8 35.8 GUCY2D CERKL
9 cone-rod dystrophy, x-linked, 1 35.7 RPGR CACNA1F
10 cone dystrophy 3 35.1 GUCA1A CACNA2D4
11 leber congenital amaurosis 4 34.8 RPGRIP1 PRPH2 GUCY2D CRX CEP290
12 bardet-biedl syndrome 34.7 USH2A RPGRIP1 RPGR RHO PRPH2 GUCY2D
13 newfoundland rod-cone dystrophy 34.7 RHO PRPH2
14 leber congenital amaurosis 1 34.6 RPGRIP1 RHO PRPH2 PROM1 GUCY2D GUCA1A
15 retinitis pigmentosa 34.3 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
16 fundus dystrophy 34.1 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
17 cone-rod dystrophy, x-linked, 2 34.0 RPGR CACNA1F
18 retinal degeneration 33.9 USH2A UNC119 RPGRIP1 RPGR RHO PRPH2
19 leber congenital amaurosis 10 33.8 RPGRIP1 RPGR GUCY2D CRX CEP290
20 retinal disease 33.8 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
21 leber congenital amaurosis 33.8 USH2A RPGRIP1 RPGR RIMS1 RHO PRPH2
22 leber congenital amaurosis 3 33.7 RPGRIP1 GUCY2D CRX CEP290
23 inherited retinal disorder 33.5 USH2A RPGR PRPH2 PROM1 NR2E3 GUCY2D
24 stargardt disease 33.4 USH2A RPGR RHO PRPH2 PROM1 NR2E3
25 joubert syndrome 1 33.4 UNC119 RPGRIP1 RPGR RHO GUCY2D CRX
26 retinitis 33.4 USH2A RPGRIP1 RPGR RHO PRPH2 FAM161A
27 laurence-moon syndrome 33.4 RPGRIP1 RPGR
28 achromatopsia 33.3 USH2A RPGRIP1 RPGR RHO PRPH2 NR2E3
29 cone dystrophy 33.2 USH2A RPGR RHO PRPH2 GUCY2D GUCA1A
30 night blindness 33.0 USH2A RPGR RHO PRPH2 NR2E3 GUCY2D
31 congenital stationary night blindness 33.0 USH2A RPGRIP1 RPGR RIMS1 RHO PRPH2
32 macular degeneration, age-related, 1 33.0 USH2A RPGR RHO PRPH2 NR2E3 GUCY2D
33 yemenite deaf-blind hypopigmentation syndrome 32.9 USH2A RPGR RHO GUCY2D CEP290 ABCA4
34 meckel syndrome, type 1 32.8 RPGRIP1 RPGR RHO CEP290
35 eye disease 32.8 USH2A RPGR RHO PRPH2 NR2E3 GUCY2D
36 pathologic nystagmus 32.8 USH2A RHO GUCY2D CRX CEP290 CACNA1F
37 gyrate atrophy of choroid and retina 32.8 RPGR RHO PRPH2 CERKL ABCA4
38 scotoma 32.7 RPGR RHO PRPH2 GUCY2D CERKL ABCA4
39 usher syndrome 32.6 USH2A RPGR RHO PRPH2 PROM1 GUCA1A
40 color blindness 32.4 RPGR RHO GUCY2D ABCA4
41 stargardt macular degeneration 32.3 RIMS1 RHO PRPH2 ABCA4
42 senior-loken syndrome 1 32.2 USH2A RPGRIP1 RPGR GUCY2D CRX CEP290
43 fundus albipunctatus 32.1 USH2A RPGR RHO PRPH2 NR2E3 CRX
44 retinoschisis 1, x-linked, juvenile 31.9 RPGR RHO NR2E3 CRX CACNA1F CABP4
45 peripheral retinal degeneration 31.9 RPGR RHO PRPH2 CERKL ABCA4
46 hereditary retinal dystrophy 31.9 USH2A RHO GUCY2D CEP290 ABCA4
47 retinitis pigmentosa 3 31.7 RPGRIP1 RPGR ABCA4
48 nonsyndromic retinitis pigmentosa 31.6 USH2A ABCA4
49 leber congenital amaurosis / early-onset severe retinal dystrophy 31.6 CEP290 CABP4
50 retinitis pigmentosa 19 31.4 RPGR ABCA4

Graphical network of the top 20 diseases related to Cone-Rod Dystrophy 2:



Diseases related to Cone-Rod Dystrophy 2

Symptoms & Phenotypes for Cone-Rod Dystrophy 2

Human phenotypes related to Cone-Rod Dystrophy 2:

58 31 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 nyctalopia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000662
2 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
3 photophobia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000613
4 color vision defect 31 very rare (1%) HP:0000551
5 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
6 reduced visual acuity 31 very rare (1%) HP:0007663
7 constriction of peripheral visual field 31 very rare (1%) HP:0001133
8 metamorphopsia 31 very rare (1%) HP:0012508
9 macular hyperpigmentation 31 very rare (1%) HP:0011509
10 bone spicule pigmentation of the retina 31 very rare (1%) HP:0007737
11 retinal pigment epithelial atrophy 31 very rare (1%) HP:0007722
12 abnormal electroretinogram 31 HP:0000512
13 blindness 31 HP:0000618
14 peripheral visual field loss 31 HP:0007994
15 abnormality of color vision 58 Frequent (79-30%)
16 central scotoma 31 HP:0000603
17 chorioretinal atrophy 31 HP:0000533
18 cone/cone-rod dystrophy 31 HP:0000548

Symptoms via clinical synopsis from OMIM:

56
Eyes:
peripheral visual field loss
chorioretinal atrophy
cone-rod retinal dystrophy
initial color vision and visual acuity loss
night blindness
more

Clinical features from OMIM:

120970

MGI Mouse Phenotypes related to Cone-Rod Dystrophy 2:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.09 ABCA4 CABP4 CACNA1F CEP290 CRX FAM161A
2 cardiovascular system MP:0005385 10 ABCA4 CABP4 CACNA2D4 CEP290 CRX FAM161A
3 vision/eye MP:0005391 9.6 ABCA4 CABP4 CACNA1F CACNA2D4 CEP290 CERKL
4 pigmentation MP:0001186 9.56 ABCA4 CEP290 CRX PROM1 PRPH2 RHO

Drugs & Therapeutics for Cone-Rod Dystrophy 2

Drugs for Cone-Rod Dystrophy 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1019)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetazolamide Approved, Vet_approved Phase 4 59-66-5 1986
2
Cyclobenzaprine Approved Phase 4 303-53-7 2895
3
Memantine Approved, Investigational Phase 4 19982-08-2 4054
4
Flurbiprofen Approved, Investigational Phase 4 5104-49-4 3394
5
Pentazocine Approved, Vet_approved Phase 4 359-83-1 441278
6
Dezocine Approved, Investigational Phase 4 53648-55-8 40841 3033053
7
Ranibizumab Approved Phase 4 347396-82-1 459903
8
Tadalafil Approved, Investigational Phase 4 171596-29-5 110635
9
4-Aminopyridine Approved Phase 4 504-24-5 1727
10
Oxybutynin Approved, Investigational Phase 4 5633-20-5 4634
11
Gabapentin Approved, Investigational Phase 4 60142-96-3 3446
12
Amitriptyline Approved Phase 4 50-48-6 2160
13
Perphenazine Approved Phase 4 58-39-9 4748
14
Oxcarbazepine Approved Phase 4 28721-07-5 34312
15
Teriparatide Approved, Investigational Phase 4 52232-67-4 16133850
16
Sultamicillin Approved, Investigational Phase 4 76497-13-7
17
Sulbactam Approved Phase 4 68373-14-8
18
Ceftizoxime Approved, Investigational Phase 4 68401-81-0 6533629
19
Parathyroid hormone Approved, Investigational Phase 4 9002-64-6
20
Nicotine Approved Phase 4 54-11-5 942 89594
21 Orange Approved Phase 4
22
Ondansetron Approved Phase 4 99614-02-5 4595
23
Chlorzoxazone Approved Phase 4 95-25-0 2733
24
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
25
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
26
Palonosetron Approved, Investigational Phase 4 135729-61-2, 135729-56-5, 119904-90-4 148211
27
Meloxicam Approved, Vet_approved Phase 4 71125-38-7 5281106 54677470
28
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
29
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
30
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
31
Maraviroc Approved, Investigational Phase 4 376348-65-1 3002977
32
Parecoxib Approved Phase 4 198470-84-7
33
Celecoxib Approved, Investigational Phase 4 169590-42-5 2662
34
Levomilnacipran Approved, Investigational Phase 4 96847-54-0
35
Milnacipran Approved, Investigational Phase 4 92623-85-3 65833
36
Ramipril Approved Phase 4 87333-19-5 5362129
37
chloroquine Approved, Investigational, Vet_approved Phase 4 54-05-7 2719
38
Lansoprazole Approved, Investigational Phase 4 103577-45-3 3883
39
Dexlansoprazole Approved, Investigational Phase 4 138530-94-6, 103577-45-3 9578005
40
Tapentadol Approved Phase 4 175591-23-8 9838022
41
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
42
Midodrine Approved Phase 4 42794-76-3, 133163-28-7 4195
43
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
44
Acetaminophen Approved Phase 4 103-90-2 1983
45
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
46
Carbetocin Approved, Investigational Phase 4 37025-55-1 71715 16681432
47
Prilocaine Approved Phase 4 721-50-6 4906
48
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
49
Droxidopa Approved, Investigational Phase 4 23651-95-8 443940
50
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757

Interventional clinical trials:

(show top 50) (show all 4759)
# Name Status NCT ID Phase Drugs
1 A Prospective, Randomized, 3-arm Parallel Trial to Evaluate the Safety and Clinical Effectiveness of 2 Lower Dose Combined PDE5i's vs. Single Maximal Dose PDE5i Treatment Unknown status NCT00498680 Phase 4 Sildenafil, Vardenafil;Sildenafil;Vardenafil;Sildenafil & Vardenafil
2 Assessment of Pregabalin Efficacy for the Treatment and Prevention of At-level Non-evoked and Evoked Spinal Cord Injury Neuropathic Pain Unknown status NCT01479556 Phase 4 Pregabalin;Placebo
3 Pilot Study About Viability and Efficacy of Intrabone Administration of Umbilical Cord Blood for Allogeneic Stem Cell Transplantation Unknown status NCT00838019 Phase 4
4 Child With Severe Aplastic Anemia (SAA) Therapy: the Injection of Umbilical Cord Derived Mesenchymal Stem Cells. Unknown status NCT02218437 Phase 4 MSC+ATG
5 Avanafil Versus Sildenafil in Spinal Cord Injury Erectile Dysfunction: Non- Inferiority, Randomized, Crossover, Open Clinical Trial Unknown status NCT03169582 Phase 4 Avanafil;Sildenafil
6 Analgesic Efficacy of High Frequency Spinal Cord Stimulation: a Placebo-controlled Study Unknown status NCT01400282 Phase 4
7 Changes of Gas Values in Cord Blood Versus Time and Temperature Unknown status NCT02785367 Phase 4
8 An Open, Longitudinal, Prospective, Non-randomized, Self-Controlled Feasibility Study to Investigate the Effect of the ReWalk™ Device on Mobility Outcomes in Patients With Chronic Spinal Cord Injury. Unknown status NCT01943669 Phase 4
9 Functional Electrical Stimulation-Assisted Walking: Reduction of Secondary Complications Due to Spinal Cord Injury Unknown status NCT00201968 Phase 4
10 Multi-center Clinical Study of Immunosuppressants, Cyclophosphamide, And Cord Blood Transfusion in Treating Patients With Severe Aplastic Anemia Unknown status NCT02838992 Phase 4 Rabbit ATG, (Genzyme);Cy;CsA
11 Multi-Centre, Prospective, Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Vardenafil in Men With Erectile Dysfunction Caused by Spinal Cord Injury Unknown status NCT00725790 Phase 4 Vardenafil;Placebo
12 Investigator Initiated Trial- Management of Chronic Pain in Military Patients With Injuries Sustained During Active Duty. Comparison of Spinal Cord Stimulation and Comprehensive Medical Management Unknown status NCT01616342 Phase 4
13 Phase 4 Study of the Effect of Botulinum-A Toxin Injected in Neurogenic Overactive Bladders of Children Born With Myelomeningocele Unknown status NCT00175123 Phase 4 Botulinum A toxin
14 Evaluation of Suprapubic Noble Metal Alloy BIP Foley Catheter in the Prevention of Catheter-associated Urinary Tract Infections in Spinal Cord Injured Patients Unknown status NCT02808000 Phase 4
15 Anesthesia Induction With Propofol or Sevoflurane in Patients Undergoing Fiberoptic Intubation for Cervical Myelopathy: Effects on Heamodynamics Unknown status NCT01052337 Phase 4 anaesthetics: sevofluorane
16 The Use of Bronchial Blocker Versus Double Lumen Tube for One-lung Ventilation During Thoracoscope Assisted Mitral Valve Replacement Unknown status NCT02729610 Phase 4
17 Efficacy and Safety of Mitoxantrone in Patients With Refractory Neuromyelitis Optica and Spectrum Disorders Unknown status NCT02021825 Phase 4 Mitoxantrone
18 Treatment Plan for Hematologic Malignancies Using Intravenous Busulfan and Cyclophosphamide Instead of Total Boby Irradiation (TBI) and Cyclophosphamide to Examine Results, Success and Side Effects of Treatment With Chemotherapy Only, as a Preparative Therapy for Patients With Cord Blood Transplants Unknown status NCT01339988 Phase 4 Busulfan/Cyclophosphamide
19 The Effect of Intravenous Oxytocin Infusion Using Different Diluents on Neonatal Bilirubin & Sodium Levels .A Prospective Randomized Controlled Trial. Unknown status NCT02602301 Phase 4 Oxytocin
20 A Longitudinal Clinical Feasibility Study to Evaluate the Psychological and Functional Effects of Using the Tobii™ Eyegaze System by Inpatients With Tetraplegia Unknown status NCT01943656 Phase 4
21 Randomized Study on SCS for the Treatment of Refractory Angina Pectoris Unknown status NCT00121654 Phase 4
22 The Effect of no Muscle Relaxant Versus Reduced-dose Rocuronium on the Anesthetic Condition With Fentanyl in Children Undergoing Adenotonsillectomy Unknown status NCT02467595 Phase 4 Rocuronium bromide 0.15 mg kg-1;Rocuronium bromide 0.3 mg kg-1;Fentanyl;Propofol;Sevoflurane
23 Functional Electrical Stimulation (FES)-Assisted Walking: Enhancement of Voluntary Walking Function Among Persons With Severe Hemiplegia Post-Stroke Unknown status NCT00552916 Phase 4
24 Memantine for Post-Operative Pain Control Unknown status NCT01041313 Phase 4 Memantine;Placebo
25 Effect of Botox Treatment for Neurogenic Detrusor Overactivity on the Prevention of Autonomic Dysreflexia Following Spinal Cord Injury Unknown status NCT02298660 Phase 4 BOTOX
26 Antispastic Effect of Transcranial Magnetic Stimulation in Patients With Cerebral and Spinal Spasticity Unknown status NCT01786005 Phase 4
27 Comparison of Two Kinds of Postoperative Analgesia After Amputation:a Randomized Clinical Trial Unknown status NCT02114463 Phase 4 ropivacaine;flurbiprofen
28 Retroclavicular Approach vs Infraclavicular Approach for Brachial Plexus Block in Obese Unknown status NCT02990702 Phase 4 Bupivacaine
29 A Randomised Controlled Trial of the Effectiveness of Acetazolamide in Reducing Cerebrospinal Fluid Pressure for Patients Undergoing Thoracic-abdominal Aortic Repair Unknown status NCT01889498 Phase 4 Acetazolamide
30 An Eight Week, Double-Blind Efficacy Study of Cyclobenzaprine ER (Amrix TM) Augmentation to Alleviate Fibromyalgia Fatigue and Muscle Pain Unknown status NCT01041495 Phase 4 cyclobenzaprine ER (AMRIX);placebo
31 Chronic Significant Pain and Functional Outcome After Laparoscopic Versus Open Groin Hernia Mesh Repair: Design of a Randomized Controlled Clinical Trial Unknown status NCT00625534 Phase 4
32 Analgesic and Hemodynamic Effects of Continuous Epidural Analgesia Compared to Paravertebral Block in Liver Resection Patients Unknown status NCT02909322 Phase 4
33 A Comparison of Myocardial Protection Using Preconditioning With Sevoflurane Against High Thoracic Epidural Analgesia for CABG Surgery Unknown status NCT00244283 Phase 4 Sevoflurane
34 Treatment for Alcohol Dependence With Gabapentin: A Double Blind Placebo Controlled Randomized Clinical Trial Unknown status NCT02771925 Phase 4 Gabapentin 2g/day divided in two doses for 24 weeks;Placebo 2g/day divided in two doses for 24 weeks
35 Multicentre Randomised Controled Trial Comparing the Effect of a New Self-gripping Lightweight Polyester Mesh and a Normal Sutured Lightweight Polyester Mesh on the Incidence of Chronic Inguinodynia in Lichtenstein Hernioplasty. Unknown status NCT01830452 Phase 4
36 Role of Capsular Tension Ring in Anterior Capsular Contraction in Retinitis Pigmentosa Patients Completed NCT00717080 Phase 4
37 An Integrated Approach With Vardenafil Orodispersible and Cognitive-behavioral Sex Therapy for the Treatment of Erectile Dysfunction (STEDOV) Completed NCT02450188 Phase 4 Vardenafil
38 Correlation of Functional and Structural Outcomes With Serum Antibody Profiles in Patients With Neovascular Age-related Macular Degeneration Treated With Ranibizumab and Healthy Subjects: A Prospective, Controlled Monocenter Trial Completed NCT02843490 Phase 4 Ranibizumab
39 The Effect of Botulinum Toxin A in Post Spinal Cord Injury Neuropathic Pain Completed NCT01579500 Phase 4 Botulinum toxin type A;normal saline
40 Treatment of Fecal Incontinence and Constipation in Patients With Spinal Cord Injury - a Prospective, Randomized, Controlled, Multicentre Trial of Transanal Irrigation Vs. Conservative Bowel Management Completed NCT00286520 Phase 4
41 Comparative Study of the Efficacy and Safety of Muscarinic M3 Receptors Antagonists in the Treatment of Neurogenic Detrusor Overactivity Completed NCT00800462 Phase 4 Oxybutynin Cl;Trospium Cl;Darifenacin Hydrogen Bromide (HBr)
42 A Six Month Randomized Open-Label Trial of Pressure Ulcer Healing With Microcyn® Skin and Wound Care With Preservatives Versus Sterile Saline in Adult Spinal Cord Injury Subjects Completed NCT02001558 Phase 4 Microcyn
43 Double-blind, Cross-over, Placebo Controlled Pilot Study to Characterize the Profile of Those Patients With Spinal Cord Injury Diagnosed by Electrophysiological, Urodynamic and Clinical (ASIA Group) Assessment Who May Respond to Vardenafil Treatment. (LEMDE) Completed NCT00667966 Phase 4 Vardenafil (Levitra, BAY 38-9456), 10 mg;Placebo;Vardenafil (Levitra, BAY 38-9456), 20 mg
44 A Placebo-Controlled, Randomized, Two-Way Cross-Over, Double-Blind, Flexible Dose, Multicenter Study to Evaluate the Efficacy and Safety of Viagra in Male Patients With Traumatic Spinal Cord Injury and Erectile Dysfunction Completed NCT00654082 Phase 4 sildenafil;placebo
45 Melatonin Replacement for Treatment of Sleep Disruption Completed NCT00507546 Phase 4 Ramelteon;Placebo
46 Management of Chronic Pain in Rehabilitation Project I - Management of Chronic Pain in Persons With Spinal Cord Injury Completed NCT00006428 Phase 4 Amitriptyline
47 Symptom-Based Treatment for Neuropathic Pain in Spinal Cord Injured Patients, Randomized Clinical Trial Completed NCT02180880 Phase 4 Pregabalin and Oxcarbazepine
48 Bowel Care and Cardiovascular Function After Spinal Cord Injury Completed NCT01567605 Phase 4 Lidocaine lubricant
49 Effects of Levetiracetam on Chronic Neuropathic Pain Following Spinal Cord Injury: a Randomized, Double-blind, Placebo-controlled, Cross-over, Multi-center Study Completed NCT00252954 Phase 4 Levetiracetam
50 Effectiveness of the Precision Spinal Cord Stimulation System in Patients With Failed Back Surgery Syndrome and Axial Low Back Pain Completed NCT00205868 Phase 4

Search NIH Clinical Center for Cone-Rod Dystrophy 2

Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Cone-Rod Dystrophy 2 cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Cone-Rod Dystrophy 2:
Bone marrow-derived stem cells for retinal diseases
Embryonic/Adult Cultured Cells Related to Cone-Rod Dystrophy 2:
Bone marrow-derived mononuclear cells (family) PMIDs: 21225138 23000646 19347139 23049424

Genetic Tests for Cone-Rod Dystrophy 2

Genetic tests related to Cone-Rod Dystrophy 2:

# Genetic test Affiliating Genes
1 Cone-Rod Dystrophy 29 PRPH2
2 Cone-Rod Dystrophy 2 29 CRX

Anatomical Context for Cone-Rod Dystrophy 2

MalaCards organs/tissues related to Cone-Rod Dystrophy 2:

40
Spinal Cord, Bone, Brain, Heart, Bone Marrow, T Cells, Lung
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Cone-Rod Dystrophy 2:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Outer Nuclear Layer Mature L Cone Cells Affected by disease
2 Eye Outer Nuclear Layer Mature M Cone Cells Affected by disease
3 Eye Outer Nuclear Layer Mature M-S Cone Cells Affected by disease
4 Eye Outer Nuclear Layer Mature Rod Cells Affected by disease
5 Eye Outer Nuclear Layer Mature S Cone Cells Affected by disease

Publications for Cone-Rod Dystrophy 2

Articles related to Cone-Rod Dystrophy 2:

(show top 50) (show all 657)
# Title Authors PMID Year
1
Cone-rod dystrophy due to mutations in a novel photoreceptor-specific homeobox gene (CRX) essential for maintenance of the photoreceptor. 54 61 56 6
9390563 1997
2
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy. 61 56 6
15531334 2004
3
Genotype-phenotype correlation in a German family with a novel complex CRX mutation extending the open reading frame. 54 61 6
17320181 2007
4
A novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD). 54 61 6
15790869 2005
5
Evidence of RPGRIP1 gene mutations associated with recessive cone-rod dystrophy. 54 61 6
12920076 2003
6
ABCA4 gene sequence variations in patients with autosomal recessive cone-rod dystrophy. 54 61 6
12796258 2003
7
X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15. 54 61 6
11857109 2002
8
Autosomal dominant cone and cone-rod dystrophy with mutations in the guanylate cyclase activator 1A gene-encoding guanylate cyclase activating protein-1. 54 61 6
11146732 2001
9
Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 54 61 6
10958761 2000
10
Spectrum of retGC1 mutations in Leber's congenital amaurosis. 54 61 6
10951519 2000
11
A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene. 54 61 6
9792858 1998
12
Localization of a gene (CORD7) for a dominant cone-rod dystrophy to chromosome 6q. 54 61 6
9634506 1998
13
Mutations in the retinal guanylate cyclase (RETGC-1) gene in dominant cone-rod dystrophy. 54 61 6
9618177 1998
14
A mutation in guanylate cyclase activator 1A (GUCA1A) in an autosomal dominant cone dystrophy pedigree mapping to a new locus on chromosome 6p21.1. 54 61 6
9425234 1998
15
IFT81 as a Candidate Gene for Nonsyndromic Retinal Degeneration. 61 56
28460050 2017
16
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 61 6
25356532 2015
17
An intronic deletion in the PROM1 gene leads to autosomal recessive cone-rod dystrophy. 61 6
26702251 2015
18
Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract. 61 6
25091951 2014
19
Novel recessive cone-rod dystrophy caused by POC1B mutation. 61 6
24945461 2014
20
Mutation of POC1B in a severe syndromic retinal ciliopathy. 61 6
25044745 2014
21
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy. 61 6
25018096 2014
22
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 61 6
23746546 2013
23
A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype. 61 6
24124559 2013
24
Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. 61 6
23776498 2013
25
A novel recessive GUCY2D mutation causing cone-rod dystrophy and not Leber's congenital amaurosis. 61 6
20517349 2010
26
Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice. 61 6
19409519 2009
27
ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies. 61 6
18285826 2008
28
Spectrum of the ABCA4 gene mutations implicated in severe retinopathies in Spanish patients. 61 6
17325136 2007
29
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene. 61 6
16505158 2006
30
Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. 61 6
16199541 2006
31
Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. 61 6
15953638 2005
32
Identification of novel RPGR ORF15 mutations in X-linked progressive cone-rod dystrophy (XLCORD) families. 61 6
15914600 2005
33
Genomic organisation and alternative splicing of human RIM1, a gene implicated in autosomal dominant cone-rod dystrophy (CORD7). 61 6
12659814 2003
34
Identification of GUCY2D gene mutations in CORD5 families and evidence of incomplete penetrance. 61 6
12552567 2003
35
The ABCA4 gene in autosomal recessive cone-rod dystrophies. 54 6
12515255 2002
36
Biochemical defects in retina-specific human ATP binding cassette transporter nucleotide binding domain 1 mutants associated with macular degeneration. 61 6
11919200 2002
37
CORD9 a new locus for arCRD: mapping to 8p11, estimation of frequency, evaluation of a candidate gene. 61 6
11581183 2001
38
Clinical features and a follow-up study in a family with X-linked progressive cone-rod dystrophy. 61 6
11453854 2001
39
HRG4 (UNC119) mutation found in cone-rod dystrophy causes retinal degeneration in a transgenic model. 61 6
11006213 2000
40
Codons 837 and 838 in the retinal guanylate cyclase gene on chromosome 17p: hot spots for mutations in autosomal dominant cone-rod dystrophy? 61 6
10676808 2000
41
Autosomal dominant cone-rod retinal dystrophy (CORD6) from heterozygous mutation of GUCY2D, which encodes retinal guanylate cyclase. 54 6
10647719 2000
42
A new family of Greek origin maps to the CRD locus for autosomal dominant cone-rod dystrophy on 19q. 61 56
9610810 1998
43
Autosomal recessive retinitis pigmentosa and cone-rod dystrophy caused by splice site mutations in the Stargardt's disease gene ABCR. 61 6
9466990 1998
44
Mutations in the cone-rod homeobox gene are associated with the cone-rod dystrophy photoreceptor degeneration. 61 6
9427255 1997
45
Localisation of a gene for dominant cone-rod dystrophy (CORD6) to chromosome 17p. 61 6
9097965 1997
46
Chromosome 19q cone-rod retinal dystrophy. Ocular phenotype. 61 56
7864751 1995
47
Genetic linkage of cone-rod retinal dystrophy to chromosome 19q and evidence for segregation distortion. 61 56
8162077 1994
48
Autosomal dominant cone-rod dystrophy: a linkage study with 17 biochemical and serological markers. 61 56
6940444 1981
49
Dominant cone-rod dystrophy. 61 56
1201699 1975
50
GUCA1A mutation causes maculopathy in a five-generation family with a wide spectrum of severity. 6
28125083 2017

Variations for Cone-Rod Dystrophy 2

ClinVar genetic disease variations for Cone-Rod Dystrophy 2:

6 (show all 40) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CABP4 NM_145200.4(CABP4):c.646C>T (p.Arg216Ter)SNV Pathogenic 190959 rs150115958 11:67225148-67225148 11:67457677-67457677
2 CRX NM_000554.6(CRX):c.239A>C (p.Glu80Ala)SNV Pathogenic 7416 rs104894671 19:48339638-48339638 19:47836381-47836381
3 CRX NM_000554.6(CRX):c.502del (p.Glu168fs)deletion Pathogenic 7417 rs1568626209 19:48342826-48342826 19:47839569-47839569
4 CRX NM_000554.6(CRX):c.121C>T (p.Arg41Trp)SNV Pathogenic 7418 rs104894672 19:48339520-48339520 19:47836263-47836263
5 CRX CRX, 3-BP DEL/2-BP INS, NT816indel Pathogenic 7425
6 CRX NM_000554.6(CRX):c.615del (p.Ser206fs)deletion Pathogenic 99618 rs281865516 19:48342935-48342935 19:47839678-47839678
7 CEP290 NM_025114.3(CEP290):c.2722C>T (p.Arg908Ter)SNV Pathogenic 281411 rs886042153 12:88500547-88500547 12:88106770-88106770
8 RHO NM_000539.3(RHO):c.491C>T (p.Ala164Val)SNV Pathogenic 417867 rs104893793 3:129249848-129249848 3:129531005-129531005
9 NR2E3 NM_014249.4(NR2E3):c.722_723TC[1] (p.Ser242fs)short repeat Pathogenic 560471 rs750740765 15:72104826-72104827 15:71812486-71812487
10 PANK2 NM_153638.3(PANK2):c.1317del (p.Arg440fs)deletion Pathogenic 560475 rs544616523 20:3893186-3893186 20:3912539-3912539
11 PANK2 NM_153638.2(PANK2):c.(?_-6)_(1662+1_1663-1)deldeletion Pathogenic 565299 20:3869742-3903890 20:3889095-3923243
12 FAM161A NM_001201543.2(FAM161A):c.1309A>T (p.Arg437Ter)SNV Pathogenic 36 rs200691042 2:62066830-62066830 2:61839695-61839695
13 PROM1 NM_001145847.2(PROM1):c.2050-521A>GSNV Pathogenic 190373 rs796051882 4:15989860-15989860 4:15988237-15988237
14 ABCA4 NM_000350.3(ABCA4):c.2894A>G (p.Asn965Ser)SNV Pathogenic 236096 rs201471607 1:94512499-94512499 1:94046943-94046943
15 ABCA4 NM_000350.3(ABCA4):c.5714+5G>ASNV Pathogenic 99403 rs61751407 1:94476351-94476351 1:94010795-94010795
16 USH2A NM_206933.3(USH2A):c.14911C>T (p.Arg4971Ter)SNV Pathogenic 48449 rs397517994 1:215813957-215813957 1:215640615-215640615
17 CERKL NM_201548.5(CERKL):c.769C>T (p.Arg257Ter)SNV Pathogenic 2364 rs121909398 2:182423344-182423344 2:181558617-181558617
18 USH2A NM_007123.5(USH2A):c.2299del (p.Glu767fs)deletion Pathogenic/Likely pathogenic 2351 rs80338903 1:216420437-216420437 1:216247095-216247095
19 PRPH2 NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)SNV Pathogenic/Likely pathogenic 623212 rs121918567 6:42672347-42672347 6:42704609-42704609
20 NR2E3 NM_014249.4(NR2E3):c.119-2A>CSNV Pathogenic/Likely pathogenic 191059 rs2723341 15:72103821-72103821 15:71811481-71811481
21 CRX NM_000554.6(CRX):c.122G>A (p.Arg41Gln)SNV Likely pathogenic 7421 rs61748436 19:48339521-48339521 19:47836264-47836264
22 CNGA1 NM_001142564.1(CNGA1):c.1166C>T (p.Ser389Phe)SNV Likely pathogenic 16932 rs62625014 4:47939552-47939552 4:47937535-47937535
23 ABCA4 NM_000350.3(ABCA4):c.5528_5533del (p.Arg1843_Gly1844del)deletion Likely pathogenic 635987 1:94476869-94476874 1:94011313-94011318
24 CERKL NM_201548.5(CERKL):c.694G>A (p.Gly232Arg)SNV Likely pathogenic 636008 2:182423419-182423419 2:181558692-181558692
25 CRX NM_000554.6(CRX):c.127C>T (p.Arg43Cys)SNV Likely pathogenic 636019 19:48339526-48339526 19:47836269-47836269
26 RPGR NM_000328.3(RPGR):c.155-1G>ASNV Likely pathogenic 636104 X:38182199-38182199 X:38322946-38322946
27 AIPL1 NM_014336.5(AIPL1):c.294del (p.Ile99fs)deletion Likely pathogenic 638356 17:6331809-6331809 17:6428489-6428489
28 CABP4 NM_145200.4(CABP4):c.773A>T (p.Asn258Ile)SNV Conflicting interpretations of pathogenicity 636004 11:67225963-67225963 11:67458492-67458492
29 ABCA4 NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)SNV Conflicting interpretations of pathogenicity 7879 rs76157638 1:94517254-94517254 1:94051698-94051698
30 USH2A NM_206933.3(USH2A):c.3407G>A (p.Ser1136Asn)SNV Conflicting interpretations of pathogenicity 133312 rs483353055 1:216373373-216373373 1:216200031-216200031
31 ABCA4 NM_000350.3(ABCA4):c.4685T>C (p.Ile1562Thr)SNV Conflicting interpretations of pathogenicity 99311 rs1762111 1:94487490-94487490 1:94021934-94021934
32 CNGB3 NM_019098.4(CNGB3):c.1148del (p.Thr383fs)deletion Conflicting interpretations of pathogenicity 5225 rs397515360 8:87656009-87656009 8:86643781-86643781
33 UNC119 NM_054035.2(UNC119):c.169A>T (p.Lys57Ter)SNV Uncertain significance 5882 rs267607166 17:26879407-26879407 17:28552389-28552389
34 USH2A NM_206933.3(USH2A):c.10613G>A (p.Arg3538Gln)SNV Uncertain significance 287390 rs774844491 1:215955511-215955511 1:215782169-215782169
35 USH2A NM_206933.3(USH2A):c.8842C>T (p.Pro2948Ser)SNV Uncertain significance 560528 rs142315587 1:216040352-216040352 1:215867010-215867010
36 RPE65 NM_000329.3(RPE65):c.433G>C (p.Ala145Pro)SNV Uncertain significance 560497 rs767528365 1:68910276-68910276 1:68444593-68444593
37 ACBD5 NM_145698.5(ACBD5):c.1446del (p.Thr483fs)deletion Uncertain significance 560425 rs1564578483 10:27494136-27494136 10:27205207-27205207
38 ACBD5 NM_145698.5(ACBD5):c.407T>C (p.Val136Ala)SNV Uncertain significance 560426 rs573943806 10:27512350-27512350 10:27223421-27223421
39 CACNA1F NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)SNV Likely benign 283388 rs141159097 X:49079179-49079179 X:49222720-49222720
40 ABCA4 NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala)SNV Benign 99155 rs61754030 1:94514466-94514466 1:94048910-94048910

UniProtKB/Swiss-Prot genetic disease variations for Cone-Rod Dystrophy 2:

73
# Symbol AA change Variation ID SNP ID
1 CRX p.Arg41Trp VAR_003750 rs104894672
2 CRX p.Glu80Ala VAR_003751 rs104894671
3 CRX p.Val242Met VAR_007949 rs61748459

Copy number variations for Cone-Rod Dystrophy 2 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 34944 1 5845456 5975118 Deletion NPHP4 Cone-rod dystrophy
2 82825 14 15600000 23600000 Copy number RPGRIP1 Cone-rod dystrophy
3 83474 14 20825975 20889300 Insertion RPGRIP1 Cone-rod dystrophy
4 239386 8 38973661 39081936 Deletion ADAM9 Cone-rod dystrophy

Expression for Cone-Rod Dystrophy 2

Search GEO for disease gene expression data for Cone-Rod Dystrophy 2.

Pathways for Cone-Rod Dystrophy 2

Pathways related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.59 RHO GUCY2D GUCA1A ABCA4
2 10.9 RHO GUCY2D GUCA1A CABP4

GO Terms for Cone-Rod Dystrophy 2

Cellular components related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell projection GO:0042995 9.92 USH2A RPGRIP1 RPGR RHO PROM1 GUCA1A
2 cilium GO:0005929 9.8 RPGRIP1 RPGR PROM1 FAM161A CEP290
3 ciliary basal body GO:0036064 9.67 USH2A RPGR FAM161A CEP290
4 photoreceptor inner segment GO:0001917 9.56 USH2A RHO FAM161A CERKL
5 photoreceptor connecting cilium GO:0032391 9.46 USH2A RPGRIP1 FAM161A CEP290
6 photoreceptor outer segment membrane GO:0042622 9.43 RHO PROM1
7 photoreceptor disc membrane GO:0097381 9.26 RHO GUCY2D GUCA1A ABCA4
8 photoreceptor outer segment GO:0001750 9.23 RPGR RHO PRPH2 PROM1 GUCY2D CERKL

Biological processes related to Cone-Rod Dystrophy 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 response to stimulus GO:0050896 9.77 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
2 retina development in camera-type eye GO:0060041 9.62 RPGRIP1 RHO PRPH2 NR2E3
3 regulation of rhodopsin mediated signaling pathway GO:0022400 9.58 RHO GUCY2D GUCA1A
4 photoreceptor cell maintenance GO:0045494 9.56 USH2A RHO PROM1 ABCA4
5 eye photoreceptor cell development GO:0042462 9.54 RPGRIP1 NR2E3 CEP290
6 visual perception GO:0007601 9.5 USH2A UNC119 RPGRIP1 RPGR RIMS1 RHO
7 detection of light stimulus involved in visual perception GO:0050908 9.48 CACNA2D4 CACNA1F
8 sensory perception of light stimulus GO:0050953 9.46 USH2A RHO
9 phototransduction GO:0007602 9.46 UNC119 RHO NR2E3 CABP4
10 phototransduction, visible light GO:0007603 9.43 RHO ABCA4

Sources for Cone-Rod Dystrophy 2

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