Cavitary Optic Disc Anomalies (CODA)

Categories: Eye diseases, Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Cavitary Optic Disc Anomalies

MalaCards integrated aliases for Cavitary Optic Disc Anomalies:

Name: Cavitary Optic Disc Anomalies 56 73 36 29 13 6 71
Coda 56 73
Familial Cavitary Optic Disc Anomaly 58
Eye Diseases, Hereditary 43
Familial Coda 58



autosomal dominant

onset of symptoms in adolescence or early adulthood
broad spectrum of optic nerve head anomalies, with significant inter-eye differences in some patients
more than half of patients develop retinal detachments and/or retinoschisis later in life
some patients are asymptomatic and diagnosed incidentally


cavitary optic disc anomalies:
Inheritance autosomal dominant inheritance


Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis

External Ids:

OMIM 56 611543
KEGG 36 H02270
MeSH 43 D015785
Orphanet 58 ORPHA464760
MedGen 41 C1969063
UMLS 71 C1969063

Summaries for Cavitary Optic Disc Anomalies

UniProtKB/Swiss-Prot : 73 Cavitary optic disc anomalies: An ocular disease characterized by a profound excavation of the optic nerve. Clinical phenotype is variable and includes congenitally excavated optic nerves as well as other features of optic pit, optic nerve coloboma, and morning glory disk anomaly. Patients with CODA have a strong predilection for retinal detachment and/or separation of the retinal layers (retinoschisis) that lead to profound central vision loss.

MalaCards based summary : Cavitary Optic Disc Anomalies, also known as coda, is related to codas syndrome and even-plus syndrome. An important gene associated with Cavitary Optic Disc Anomalies is MMP19 (Matrix Metallopeptidase 19). The drugs Anti-Infective Agents, Local and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include eye, testes and liver, and related phenotypes are nyctalopia and peripapillary atrophy

KEGG : 36 Congenital cavitary optic disc anomalies (CODA) include optic disc coloboma, morning glory disc anomaly, optic pit, and the papillorenal syndrome. Recently, a copy number variation upstream of matrix metalloproteinase 19 (MMP19) has been discovered in an autosomal dominant pedigree with CODA.

More information from OMIM: 611543

Related Diseases for Cavitary Optic Disc Anomalies

Diseases related to Cavitary Optic Disc Anomalies via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 40)
# Related Disease Score Top Affiliating Genes
1 codas syndrome 12.9
2 even-plus syndrome 11.3
3 cataract 10.5
4 coloboma of macula 10.3
5 spondyloepiphyseal dysplasia with congenital joint dislocations 10.3
6 ptosis 10.3
7 cleft palate, isolated 10.1
8 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.1
9 hypertelorism 10.1
10 wolf-hirschhorn syndrome 10.1
11 corpus callosum, partial agenesis of, x-linked 10.1
12 retinoschisis 1, x-linked, juvenile 10.1
13 renal hypoplasia 10.1
14 alternating exotropia 10.1
15 exotropia 10.1
16 clubfoot 10.1
17 lagophthalmos 10.1
18 optic nerve disease 10.1
19 keratopathy 10.1
20 vitreous detachment 10.1
21 chromosome 4p deletion 10.1
22 retinochoroidal coloboma 10.1
23 hypotonia 10.1
24 euryblepharon 10.1
25 spondylosis, cervical 10.1
26 triiodothyronine receptor auxiliary protein 10.1
27 marinesco-sjogren syndrome 10.1
28 pulmonary disease, chronic obstructive 10.1
29 alacrima, achalasia, and mental retardation syndrome 10.1
30 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
31 helix syndrome 10.1
32 spondylosis 10.1
33 syphilis 10.1
34 appendicitis 10.1
35 spasticity 10.1
36 multiple congenital anomalies/dysmorphic syndrome-intellectual disability 10.1
37 lecithin:cholesterol acyltransferase deficiency 9.7
38 achromatopsia 3 9.7
39 alport syndrome 9.7
40 eye disease 9.7

Graphical network of the top 20 diseases related to Cavitary Optic Disc Anomalies:

Diseases related to Cavitary Optic Disc Anomalies

Symptoms & Phenotypes for Cavitary Optic Disc Anomalies

Human phenotypes related to Cavitary Optic Disc Anomalies:

# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 peripapillary atrophy 31 very rare (1%) HP:0500087
3 reduced visual acuity 31 HP:0007663
4 visual field defect 31 HP:0001123

Symptoms via clinical synopsis from OMIM:

Head And Neck Eyes:
decreased visual acuity
visual field defects
night blindness (rare)
colobomatous optic nerve head (in some patients)
optic nerve head pit (in some patients)

Clinical features from OMIM:


Drugs & Therapeutics for Cavitary Optic Disc Anomalies

Drugs for Cavitary Optic Disc Anomalies (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 57)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anti-Infective Agents, Local Phase 3
2 Anesthetics Phase 3
3 Pharmaceutical Solutions Phase 3
Valproic acid Approved, Investigational Phase 2 99-66-1 3121
Doxycycline Approved, Investigational, Vet_approved Phase 1, Phase 2 564-25-0 54671203
Oxytetracycline Approved, Investigational, Vet_approved Phase 1, Phase 2 79-57-2 54715139 5280972
Hydromorphone Approved, Illicit Phase 2 466-99-9 5284570
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
Cysteine Approved, Nutraceutical Phase 1, Phase 2 52-90-4 5862
10 Psychotropic Drugs Phase 2
11 Anticonvulsants Phase 2
12 Neurotransmitter Agents Phase 2
13 Antimalarials Phase 1, Phase 2
14 Narcotics Phase 2
15 Analgesics, Opioid Phase 2
16 Anti-Inflammatory Agents Phase 2
17 Antirheumatic Agents Phase 2
18 Analgesics Phase 2
19 Liver Extracts Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Anti-Inflammatory Agents, Non-Steroidal Phase 2
Topotecan Approved, Investigational Phase 1 123948-87-8, 119413-54-6 60700
23 topoisomerase I inhibitors Phase 1
Clavulanate Approved, Vet_approved 58001-44-8 5280980
Ciprofloxacin Approved, Investigational 85721-33-1 2764
Ceftriaxone Approved 73384-59-5 5361919 5479530
Cefazolin Approved 25953-19-9 656510 33255
Cefoxitin Approved 35607-66-0 441199
Cefuroxime Approved 55268-75-2 5479529 5361202
Cefotaxime Approved 63527-52-6 5742673 456256
Ticarcillin Approved, Investigational, Vet_approved 34787-01-4 36921
Levofloxacin Approved, Investigational 100986-85-4 149096
Tigecycline Approved 220620-09-7 5282044
Ofloxacin Approved 82419-36-1 4583
Clindamycin Approved, Vet_approved 18323-44-9 29029
Metronidazole Approved 443-48-1 4173
Ertapenem Approved, Investigational 153832-46-3 150610
Moxifloxacin Approved, Investigational 354812-41-2, 151096-09-2 152946
39 Adjuvants, Immunologic
40 (T,G)-A-L
41 Immunosuppressive Agents
Glatiramer Acetate 147245-92-9 3081884
43 Immunologic Factors
44 Lemon Balm
45 Antiparasitic Agents
46 Antiprotozoal Agents
47 Anti-Bacterial Agents
48 Anti-Infective Agents
49 Cytochrome P-450 Enzyme Inhibitors
50 cefuroxime axetil

Interventional clinical trials:

(show all 40)
# Name Status NCT ID Phase Drugs
1 Targeted Hip Progressive Resistance Training to Improve Single Leg Balance and Walking in Children With Cerebral Palsy Unknown status NCT01633736 Phase 3
2 Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for More Than 6 Months and To 12 Months by LHON Due to the G11778A Mutation in the ND4 Gene Completed NCT02652780 Phase 3
3 A Randomized, Double-Masked, Sham-Controlled Clinical Trial to Evaluate the Efficacy of a Single Intravitreal Injection of GS010 in Subjects Affected for 6 Months or Less by LHON Due to the G11778A Mutation in the Mitochondrial ND4 Gene Completed NCT02652767 Phase 3
4 Double-masked, Randomized, Controlled, Multiple-dose Study to Evaluate Efficacy, Safety, Tolerability and Syst. Exposure of QR-110 in Leber's Congenital Amaurosis (LCA) Due to c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Recruiting NCT03913143 Phase 2, Phase 3 sepofarsen
5 Efficacy and Safety of Bilateral Intravitreal Injection of GS010: A Randomized, Double-Masked, Placebo-Controlled Trial in Subjects Affected With G11778A ND4 Leber Hereditary Optic Neuropathy for Up to One Year Active, not recruiting NCT03293524 Phase 3 Placebo
6 The Effect of Subantimicrobial Dose Doxycycline in Mild Graves' Orbitopathy Unknown status NCT02203682 Phase 2 Doxycycline;placebo
7 Efficacy and Safety of Oral Valproic Acid for Retinitis Pigmentosa Completed NCT01399515 Phase 2 Valproic Acid
8 Efficacy of Subantimicrobial Dose Doxycycline for Moderate to Severe and Active Graves' Orbitopathy: a Prospective, Uncontrolled Pilot Study Completed NCT01727973 Phase 1, Phase 2 Doxycycline
9 A Randomized, Double-Blind, Vehicle-controlled, Parallel Group, Dose-Ranging, Multi-center Study of the Efficacy and Safety of Nexagon® in the Treatment of Participants With Venous Leg Ulcers Completed NCT00820196 Phase 2 Nexagon®;Nexagon® vehicle
10 A Randomized, Parallel Group, Dose-Ranging, Controlled, Multi-Center Study to Assess the Efficacy and Safety of Nexagon® in the Treatment of Subjects With a Venous Leg Ulcer Completed NCT01199588 Phase 2 Nexagon® Low Dose;Nexagon® High Dose;Nexagon® Vehicle
11 A Randomized, Prospective, Double-blind, Vehicle-controlled, Dose-ranging, Multi-center Study to Assess the Safety and Clinical Effect of Nexagon® in the Treatment of Subjects With a Diabetic Foot Ulcer Completed NCT01490879 Phase 2 Nexagon® Low Dose;Nexagon® Medium Dose;Nexagon® High Dose;Nexagon® vehicle
12 Safety and Speed of Onset of a Fixed Dose of Intravenous Hydromorphone in the Treatment of Adult Patients Presenting to the Emergency Department With Acute Severe Pain Completed NCT00305110 Phase 2 2 mg IV hydromorphone
13 A Phase 1/2a, Open-Label, Non-Randomized, Dose-Escalation Study to Evaluate the Safety and Tolerability of GS030 in Subjects With Retinitis Pigmentosa Recruiting NCT03326336 Phase 1, Phase 2
14 Open-Label, Single Ascending Dose Study to Evaluate the Safety, Tolerability, and Efficacy of AGN-151587 (EDIT-101) in Adult and Pediatric Participants With Leber Congenital Amaurosis Type 10 (LCA10), With Centrosomal Protein 290 (CEP290)-Related Retinal Degeneration Caused by a Compound Heterozygous or Homozygous Mutation Involving c.2991+1655A>G in Intron 26 (IVS26) of the CEP290 Gene ("LCA10-IVS26") Recruiting NCT03872479 Phase 1, Phase 2 AGN-151587
15 A First-in-Human Study to Evaluate the Safety and Tolerability of QR-421a in Subjects With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene Recruiting NCT03780257 Phase 1, Phase 2 QR-421a
16 Safety and Efficacy of a Unilateral Subretinal Administration of HORA-PDE6B in Patients With Retinitis Pigmentosa Harbouring Mutations in the PDE6B Gene Leading to a Defect in PDE6ß Expression Recruiting NCT03328130 Phase 1, Phase 2
17 A Prospective First-In-Human Study to Evaluate the Safety and Tolerability of QR-1123 in Subjects With Autosomal Dominant Retinitis Pigmentosa (adRP) Due to the P23H Mutation in the RHO Gene Recruiting NCT04123626 Phase 1, Phase 2 QR-1123
18 Pirfenidone in Combination With Standard of Care Treatment in Patients With Advanced Liver Fibrosis. Multicenter, Open Trial Focused on Safety, Fibrosis Efficacy Evaluation, and Pharmacokinetic Data. Recruiting NCT04099407 Phase 2 Pirfenidone
19 An Open-Label, Extension Study to Evaluate the Safety, Tolerability, Efficacy and Pharmacokinetics of QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 Gene Active, not recruiting NCT03913130 Phase 1, Phase 2 QR-110
20 A Randomized, Prospective, Double-blind, Vehicle-controlled, Dose-escalation, Single-center Study of the Safety and Clinical Effect of Nexagon® in the Treatment of Participants With Diabetic Foot Ulcers Terminated NCT00820703 Phase 1, Phase 2 Nexagon®;Nexagon® vehicle
21 A Phase 2, Randomized, Prospective, Double-masked, Vehicle-controlled, Dose-ranging Study to Evaluate the Efficacy and Safety of Nexagon® in Subjects With Persistent Corneal Epithelial Defects (PED) From Chemical Burn Injuries. Withdrawn NCT00821561 Phase 2 Nexagon®;Nexagon® vehicle
22 A Phase 1 Randomized, Prospective, Double-Masked, Vehicle-Controlled, Dose-Escalation Study to Evaluate the Safety, Tolerability and Clinical Effect of Nexagon™ in Subjects Following Bilateral Photorefractive Keratectomy (PRK) for the Correction of Mild to Moderate Myopia. Completed NCT00654550 Phase 1 Nexagon™ or Nexagon™ vehicle
23 Phase I Sustained-Release Topotecan Episcleral Plaque (Chemoplaque) for Retinoblastoma Not yet recruiting NCT04428879 Phase 1 Topotecan Episcleral Plaque
24 Three Dimensional Gait Evaluation in Relapsing Remitting Multiple Sclerosis Patients Treated With Glatiramer Acetate Unknown status NCT00331747 Glatiramer acetate
25 Fundus Changes in the Microphthalmy Eyes Completed NCT00811512
26 Safety and Efficacy of Subretinal Implants for Partial Restoration of Vision in Blind Patients: A Prospective Multicenter Clinical Study Based on Randomized Intra-individual Implant Activation in Patients With Degenerative Retinal Diseases Completed NCT01024803
27 Diagnostic Value of Patient - Reported and Clinically Verified Olfactory Disorders in a Population Tested for COVID-19 Completed NCT04407494
28 Screening Study for the Evaluation and Diagnosis of Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00001732
29 Evaluation and Treatment Protocol for Potential Research Subjects With Inherited Ophthalmic Diseases Completed NCT00011817
30 The Role of the Peroneus Brevis and Peroneus Longus in Patients With Chronic Ankle Instability and the Effect of an Exercise Intervention Completed NCT02276339
31 Long-term Follow-up Study of Participants Following an Open Label, Multi-centre, Phase I/II Dose Escalation Trial of an Adeno-associated Virus Vector (AAV2/5-OPTIRPE65) for Gene Therapy of Adults and Children With Retinal Dystrophy Owing to Defects in RPE65 (LCA2) Recruiting NCT02946879
32 Long-term Follow-up of ND4 LHON Subjects Treated With GS010 Ocular Gene Therapy in the RESCUE or REVERSE Phase III Clinical Trials Recruiting NCT03406104
33 Observational Registry Study of Leber Hereditary Optic Neuropathy (LHON) Affected Patients Recruiting NCT03295071
34 Foundation Fighting Blindness Registry, My Retina Tracker Recruiting NCT02435940
35 Coordination of Rare Diseases at Sanford Recruiting NCT01793168
36 Natural History Study of CEP290-Related Retinal Degeneration Active, not recruiting NCT03396042
37 The Comparison of Outcomes of Antibiotic Drugs and Appendectomy (CODA) Trial Active, not recruiting NCT02800785 Cefoxitin, Ertapenem, Moxifloxacin, Tigecycline, Ticarcillin-Clavulanic Acid; Metronidazole plus Cefazolin, Cefuroxime, Ceftriaxone, Cefotaxime, Ciprofloxacin, or Levofloxacin
39 EAP Single Patient: Safety of Bilateral Intravitreal Injection of GS010 in a Single Subject Affected With G11778A ND4 Leber Hereditary Optic Neuropathy Available NCT03672968
40 Pilot Study of Intravitreal Bevacizumab vs. Combination Therapy for Choroidal Neovascularization Secondary to Causes Other Than Age-related Macular Degeneration Withdrawn NCT01256580 Bevacizumab (Avastin; Genentech, Inc.);Bevacizumab, Dexamethasone, Verteporfin Photodynamic Therapy

Search NIH Clinical Center for Cavitary Optic Disc Anomalies

Cochrane evidence based reviews: eye diseases, hereditary

Genetic Tests for Cavitary Optic Disc Anomalies

Genetic tests related to Cavitary Optic Disc Anomalies:

# Genetic test Affiliating Genes
1 Cavitary Optic Disc Anomalies 29 MMP19

Anatomical Context for Cavitary Optic Disc Anomalies

MalaCards organs/tissues related to Cavitary Optic Disc Anomalies:

Eye, Testes, Liver, Retina, Bone, Heart, Skin

Publications for Cavitary Optic Disc Anomalies

Articles related to Cavitary Optic Disc Anomalies:

(show top 50) (show all 673)
# Title Authors PMID Year
Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly. 6 56 61
25581579 2015
Progressive optic nerve cupping and neural rim decrease in a patient with bilateral autosomal dominant optic nerve colobomas. 6 56
10764862 2000
The spectrum of cavitary optic disc anomalies in a family. 61 56
2710526 1989
Familial cavitary optic disk anomalies: identification of a novel genetic locus. 56
17368552 2007
Familial cavitary optic disk anomalies: clinical features of a large family with examples of progressive optic nerve head cupping. 56
17362864 2007
Optic nerve colobomas of autosomal-dominant heredity. 56
945057 1976
Qingda granule inhibits angiotensin Ⅱ induced VSMCs proliferation through MAPK and PI3K/AKT pathways. 61
32199989 2020
Synthesis and pharmacological evaluation of bivalent tethered ligands to target the mGlu2/4 heterodimeric receptor results in a compound with mGlu2/2 homodimer selectivity. 61
32371100 2020
Outcomes from the Health Resources and Services Administration's Dental Faculty Development Program. 61
32488901 2020
Combination of compositional data analysis and machine learning approaches to identify sources and geochemical associations of potentially toxic elements in soil and assess the associated human health risk in a mining city. 61
32109822 2020
Does cardiac rehabilitation for people with stroke in the sub-acute phase of recovery lead to physical behaviour change? Results from compositional analysis of accelerometry-derived data. 61
32026825 2020
A contemporary assessment of devices for Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA): resource-specific options per level of care. 61
32472443 2020
Overexpression and one-step renaturation-purification of the tagged creatinine deiminase of Corynebacterium glutamicum in Escherichia coli cells. 61
32039507 2020
Consistency norms for 37,677 english words. 61
32472499 2020
Contemporary appraisal of factors influencing pediatric dental program director's selection of residents. 61
32385916 2020
Generation of transgene-free PDS mutants in potato by Agrobacterium-mediated transformation. 61
32398038 2020
Acoustically distinct and perceptually ambiguous: ʔayʔaǰuθəm (Salish) fricatives. 61
32359305 2020
Synechococcus elongatus PCC7942: a cyanobacterium cell factory for producing useful chemicals and fuels under abiotic stress conditions. 61
32301003 2020
State Licensing Board Requirements for Entry into the Dental Hygiene Profession. 61
32354852 2020
Person-Environment Resources for Aging Well: Environmental Docility and Life Space as Conceptual Pillars for Future Contextual Gerontology. 61
32240292 2020
Analysis of chemical compounds in beverages - Guidance for establishing a compositional analysis. 61
32387990 2020
Detection of Multiple Cracks in Four-Point Bending Tests Using the Coda Wave Interferometry Method. 61
32252283 2020
Tracking fluids in multiple scattering and highly porous materials: Toward applications in non-destructive testing and seismic monitoring. 61
31671364 2020
Compositional Data Analysis in Time-Use Epidemiology: What, Why, How. 61
32224966 2020
Assessing Change of Direction Ability in a Spanish Elite Soccer Academy. 61
32269664 2020
Prosthodontic Resident Selection by Postdoctoral Dental Matching Program: A National Survey by Participating Program Director. 61
32133716 2020
Physicians' perceptions of the role of the dental hygienist in interprofessional collaboration: a pilot study. 61
32130056 2020
ADEA Faculty Diversity Toolkit: A Comprehensive Approach to Improving Diversity and Inclusion in Dental Education. 61
32115710 2020
Early Clinical Exposure in U.S. Dental Schools and Correlation with Earlier Competencies Evaluation. 61
32043584 2020
Structure Dependent Determination of Organophosphate Targets in Mammalian Tissues Using Activity-Based Protein Profiling. 61
31872761 2020
Preclinical Competency Testing in North American Dental Schools and Opinions About Possible Standardization. 61
32043586 2020
Novel stress phonotactics are learnable by English speakers: Novel tone phonotactics are not. 61
31879827 2020
Toward the combined optimization of dynamic axes (CODA) for stereotactic radiotherapy and radiosurgery using fixed couch trajectories. 61
31659750 2020
Toward Noninvasive Mapping of Diffuse Scattering in the Presence of Motion. 61
31937210 2020
KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing. 61
32133509 2020
Use of Compositional Data Analysis to Show Estimated Changes in Cardiometabolic Health by Reallocating Time to Light-Intensity Physical Activity in Older Adults. 61
31350674 2020
Slow dynamic nonlinearity in unconsolidated glass bead packs. 61
32069569 2020
Slow dynamics in a single glass bead. 61
32069587 2020
The coordination of upper and lower limbs in curve-turning walking of healthy preschoolers: Viewed in continuous relative phase. 61
31586751 2020
Enzymes Photo-Cross-Linked to Live Cell Receptors Retain Activity and EGFR Inhibition after Both Internalization and Recycling. 61
31840981 2020
32180582 2020
Clear versus casual consonant identification by hearing-impaired and normal-hearing listeners. 61
31801385 2019
Individual categorisation of glucose profiles using compositional data analysis. 61
30380996 2019
Cervical Range of Motion after Anterior Corpectomy and Fusion versus Laminoplasty for Multilevel Cervical Spondylotic Myelopathy: A Three-Dimensional Comparison Based on the Coda Motion System. 61
31491573 2019
Stories of African-American Breast Cancer Survivors. 61
32176966 2019
Co-occurring defect analysis: A platform for analyzing birth defect co-occurrence in registries. 61
31313535 2019
Nonlinear Coda Wave Interferometry: Sensitivity to wave-induced material property changes analyzed via numerical simulations in 2D. 61
31419760 2019
Phonological selectivity in the acquisition of English clusters. 61
31434589 2019
Preclinical Competency Testing in North American Dental Schools and Opinions About Possible Standardization. 61
31658982 2019
Two new species of deep-sea sponges (Porifera, Demospongiae) from submarine canyons of the Sardinian continental margin (western Mediterranean Sea). 61
31719441 2019

Variations for Cavitary Optic Disc Anomalies

ClinVar genetic disease variations for Cavitary Optic Disc Anomalies:

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MMP19 GRCh38/hg38 12q13.2(chr12:55845043-55851177)x4copy number gain Pathogenic 180748 12:56238827-56244961 12:55845043-55851177
2 MMP19 GRCh38/hg38 12q13.2(chr12:55845043-55851177)copy number gain Pathogenic 208981 12:56238827-56244961 12:55845043-55851177

Expression for Cavitary Optic Disc Anomalies

Search GEO for disease gene expression data for Cavitary Optic Disc Anomalies.

Pathways for Cavitary Optic Disc Anomalies

GO Terms for Cavitary Optic Disc Anomalies

Sources for Cavitary Optic Disc Anomalies

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
31 HPO
32 ICD10
33 ICD10 via Orphanet
37 LifeMap
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
54 Novoseek
57 OMIM via Orphanet
61 PubMed
70 Tocris
72 UMLS via Orphanet
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