AN1
MCID: ANR048
MIFTS: 66

Aniridia 1 (AN1)

Categories: Eye diseases, Genetic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aniridia 1

MalaCards integrated aliases for Aniridia 1:

Name: Aniridia 1 57 72 29 6
Aniridia 57 12 73 20 43 36 13 54 44 15 39
Congenital Aniridia 43 29 6
Cataract with Late-Onset Corneal Dystrophy 57 29
An1 57 72
an 57 72
Aniridia Ii, Formerly; An2, Formerly 57
Aniridia Ii, Formerly 57
Aniridia Type Ii 72
Aniridia, Type 1 39
Aplasia of Iris 12
An2, Formerly 57
Absent Iris 43
Irideremia 43
an-1 17
An2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
aniridia 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:12271
OMIM® 57 106210
OMIM Phenotypic Series 57 PS106210
KEGG 36 H00635
ICD9CM 34 743.45
MeSH 44 D015783
NCIt 50 C84563
SNOMED-CT 67 69278003
ICD10 32 Q13.1
UMLS 70 C0003076

Summaries for Aniridia 1

MedlinePlus Genetics : 43 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

MalaCards based summary : Aniridia 1, also known as aniridia, is related to gillespie syndrome and aniridia 2. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Transcriptional Regulatory Network in Embryonic Stem Cell. The drugs Octreotide and Drospirenone have been mentioned in the context of this disorder. Affiliated tissues include eye, bone and liver, and related phenotypes are nystagmus and cataract

Disease Ontology : 12 An iris disease that is characterized by a complete or partial absence of the colored part of the eye.

GARD : 20 Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris) and is usually associated with foveal hypoplasia (underdevelopment of the part of the eye responsible for sharp central vision). This combination can lead to decreased visual acuity and involuntary eye movements ( nystagmus ) in affected infants. People with aniridia may also have other eye problems including increased pressure in the eye ( glaucoma ), clouding of the lens of the eye ( cataracts ), and abnormalities of the cornea. Many of these eye problems contribute to progressive vision loss in affected individuals. Occasionally, people with aniridia have behavioral problems, developmental delay, and problems detecting odors. Aniridia may occur either as an isolated eye abnormality or as part of the Wilms tumor-aniridia-genital anomalies-retardation (WAGR) syndrome. Isolated aniridia may be caused by mutations in the PAX6 gene and is inherited in an autosomal dominant pattern.

OMIM® : 57 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in most cases. This feature can range from a readily visible, almost complete absence of the iris, through enlargement and irregularity of the pupil mimicking a coloboma, to small slit-like defects in the anterior layer seen only on transillumination with a slit-lamp. The effect on vision is similarly variable (summary by Jordan et al., 1992). (106210) (Updated 20-May-2021)

KEGG : 36 Aniridia is a congenital, bilateral ocular malformation defined as iris aplasia or hypoplasia. It can be either isolated or accompanied by other ocular defects. Aniridia is caused by decreased dosage of the PAX6, a master regulatory gene that induces eye formation in a broad range of animals. Recently, it has been reported that aniridia is also caused by heterozygous mutations in the ELP4 gene and TRIM44 gene.

UniProtKB/Swiss-Prot : 72 Aniridia 1: A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.

Wikipedia : 73 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

Related Diseases for Aniridia 1

Diseases in the Aniridia 1 family:

Aniridia 2 Aniridia 3
Pax6-Related Aniridia

Diseases related to Aniridia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 333)
# Related Disease Score Top Affiliating Genes
1 gillespie syndrome 33.1 PITX2 PAX6 IMMP1L FOXC1 DNAJC24
2 aniridia 2 32.6 PAX6DRR PAX6 ELP4
3 isolated aniridia 32.4 WT1 PAX6DRR PAX6 FOXC1 ELP4
4 pax6-related aniridia 32.4 WT1 PAX6
5 anterior segment dysgenesis 4 32.2 PITX2 FOXC1 CRYAA
6 anterior segment dysgenesis 2 32.1 PITX3 FOXE3
7 anterior segment dysgenesis 1 32.0 PITX3 PITX2 PAX6 FOXE3 FOXC1
8 foveal hypoplasia 1 32.0 PAX6 ELP4
9 axenfeld-rieger syndrome 31.9 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
10 keratitis, hereditary 31.8 PITX2 PAX6 KRT3 FOXE3 FOXC1 ELP4
11 anterior segment dysgenesis 31.8 PITX3 PITX2 PAX6 KRT12 FOXE3 FOXC1
12 axenfeld-rieger syndrome, type 1 31.8 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
13 microphthalmia 31.8 SIX3 PITX3 PITX2 PAX6 PAX3 FOXE3
14 coloboma of macula 31.7 SIX3 PITX3 PITX2 PAX6 KIR2DS4 FOXE3
15 pathologic nystagmus 31.6 PAX6 ELP4 CRYAA
16 cataract 31.5 PITX3 PITX2 PAX6 FOXE3 FOXC1 ELP4
17 intraocular pressure quantitative trait locus 31.4 PITX2 PAX6 FOXC1 CRYAA
18 peters-plus syndrome 31.2 PITX3 PITX2 PAX6 FOXE3 FOXC1 ELP4
19 limbal stem cell deficiency 31.1 KRT3 KRT12
20 eye disease 31.0 PITX2 PAX6 FOXC1 CRYAA BDNF
21 amblyopia 30.9 PITX3 PAX6 FOXE3 CRYAA BDNF
22 astigmatism 30.7 KRT3 KRT12 CRYAA
23 esotropia 30.6 PAX6 FOXE3 CRYAA
24 glaucoma 3, primary congenital, a 30.6 PITX2 PAX6 FOXE3 FOXC1
25 corneal disease 30.4 PITX2 PAX6 KRT3 KRT12 FOXE3 FOXC1
26 primary congenital glaucoma 30.4 PITX2 PAX6 FOXE3 FOXC1 CRYAA
27 congenital aphakia 30.3 PAX6 FOXE3 CRYAA
28 hypertelorism 30.2 PAX6 FOXC1 ELP4
29 sclerocornea 30.2 PITX2 PAX6 FOXE3 CRYAA
30 irregular astigmatism 30.2 KRT3 KRT12
31 anisometropia 30.2 PAX6 CRYAA
32 coloboma of optic nerve 30.1 PAX6 IMMP1L ELP4 DNAJC24 DCDC1
33 juvenile glaucoma 30.1 PITX3 PITX2 PAX6 FOXE3 FOXC1 CRYAA
34 corneal degeneration 30.0 KRT3 KRT12
35 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 30.0 WT1 PITX2 PAX6 MPPED2 IMMP1L FSHB
36 aniridia and absent patella 11.5
37 aniridia 3 11.5
38 aniridia, partial, with unilateral renal agenesis and psychomotor retardation 11.4
39 aniridia - ptosis - intellectual disability - familial obesity 11.3
40 wilms tumor, aniridia, genitourinary anomalies, mental retardation, and obesity syndrome 11.3
41 anterior segment dysgenesis 5 11.1
42 wilms tumor 1 11.0
43 anterior segment dysgenesis 3 11.0
44 anterior segment dysgenesis 6 11.0
45 syndromic aniridia 10.9
46 acute lymphoblastic leukemia congenital sporadic aniridia 10.9
47 aniridia, microcornea, and spontaneously reabsorbed cataract 10.9
48 aniridia-intellectual disability syndrome 10.9
49 anterior segment dysgenesis 7 10.8
50 foveal hypoplasia 2 10.8

Graphical network of the top 20 diseases related to Aniridia 1:



Diseases related to Aniridia 1

Symptoms & Phenotypes for Aniridia 1

Human phenotypes related to Aniridia 1:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 HP:0000639
2 cataract 31 HP:0000518
3 opacification of the corneal stroma 31 HP:0007759
4 glucose intolerance 31 HP:0001952
5 glaucoma 31 HP:0000501
6 polymicrogyria 31 HP:0002126
7 hypoplasia of the fovea 31 HP:0007750
8 hypoplasia of the corpus callosum 31 HP:0002079
9 aniridia 31 HP:0000526
10 optic nerve hypoplasia 31 HP:0000609
11 increased proinsulin:insulin ratio 31 HP:0031883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
cataract
glaucoma
aniridia
decreased vision
peter's anomaly (congenital anomaly of the anterior segment)
more
Neurologic Central Nervous System:
hypoplastic or absent anterior commissure
hypoplastic corpus callosum
absent pineal gland (in some patients)
hypoplastic or absent olfactory bulb (rare)
polymicrogyria (rare)

Head And Neck Nose:
reduced olfaction

Clinical features from OMIM®:

106210 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Aniridia 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.35 FOXC1 PAX3 PAX6 PITX2 PITX3
2 respiratory system MP:0005388 9.23 BDNF FOXC1 PAX3 PAX6 PITX2 PITX3

Drugs & Therapeutics for Aniridia 1

Drugs for Aniridia 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1664)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
2
Drospirenone Approved Phase 4 67392-87-4 68873
3
Cefoperazone Approved, Investigational Phase 4 62893-19-0 44185
4
Dimethyl fumarate Approved, Investigational Phase 4 624-49-7 637568 5271565
5
Amiloride Approved Phase 4 2016-88-8, 2609-46-3 16231
6
Iron isomaltoside 1000 Approved, Investigational Phase 4 1370654-58-2
7
Cobicistat Approved Phase 4 1004316-88-4
8
Sodium oxybate Approved Phase 4 502-85-2 5360545
9
Natalizumab Approved, Investigational Phase 4 189261-10-7
10
Nicorandil Approved, Investigational Phase 4 65141-46-0 47528
11
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
12
Cytarabine Approved, Investigational Phase 4 147-94-4 6253
13
Daunorubicin Approved Phase 4 20830-81-3 30323
14
Methotrexate Approved Phase 4 1959-05-2, 59-05-2 126941
15
Etoposide Approved Phase 4 33419-42-0 36462
16
Lenograstim Approved, Investigational Phase 4 135968-09-1
17
Vincristine Approved, Investigational Phase 4 2068-78-2, 57-22-7 5978
18
Mercaptopurine Approved Phase 4 50-44-2 667490
19
Thioguanine Approved Phase 4 154-42-7 2723601
20
Lactitol Approved, Investigational Phase 4 585-86-4 157355
21
Scopolamine Approved, Investigational Phase 4 51-34-3, 6533-68-2 5184
22
Montelukast Approved Phase 4 158966-92-8 5281040
23
Prazosin Approved Phase 4 19216-56-9 4893
24
Nifedipine Approved Phase 4 21829-25-4 4485
25
Sufentanil Approved, Investigational Phase 4 56030-54-7 41693
26
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
27
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
28
Latanoprost Approved, Investigational Phase 4 130209-82-4 5282380 5311221
29
Atorvastatin Approved Phase 4 134523-00-5 60823
30
Tazarotene Approved, Investigational Phase 4 118292-40-3 5381
31
Omalizumab Approved, Investigational Phase 4 242138-07-4
32
Granisetron Approved, Investigational Phase 4 109889-09-0 3510
33
Tropisetron Approved, Investigational Phase 4 105826-92-4, 89565-68-4 5595
34
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
35
Linagliptin Approved Phase 4 668270-12-0 10096344
36
Iodine Approved, Investigational Phase 4 7553-56-2 807
37
Polyestradiol phosphate Approved Phase 4 28014-46-2
38
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
39
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
40
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
41
Norethindrone Approved Phase 4 68-22-4 6230
42
Desogestrel Approved Phase 4 54024-22-5 40973
43
Lamotrigine Approved, Investigational Phase 4 84057-84-1 3878
44
Levetiracetam Approved Phase 4 102767-28-2 441341
45
Fluticasone Approved, Experimental Phase 4 90566-53-3 62924
46
Phenylephrine Approved Phase 4 59-42-7 6041
47
Oxymetazoline Approved, Investigational Phase 4 1491-59-4 4636
48
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
49
Acyclovir Approved Phase 4 59277-89-3 2022
50
Simeprevir Approved Phase 4 923604-59-5 66576988

Interventional clinical trials:

(show top 50) (show all 10000)
# Name Status NCT ID Phase Drugs
1 Concentration and Antibiotic Activity in Antibiotic Lock Solutions Unknown status NCT01592032 Phase 4 Vancomycin antimicrobial-lock solution;Teicoplanin antimicrobial-lock solution;Linezolid antimicrobial-lock solution;Daptomycin antimicrobial-lock solution;Tigecycline antimicrobial-lock solution
2 Comparison of Heat and Humidity Conservation Among Different Anesthesia Workstation and Different Flow Rate. Unknown status NCT01193465 Phase 4
3 Effects of Different Doses of Dexmedetomidine on Postoperative Cognitive Dysfunction in Elderly Hypertensive Patients-A Single Center,Randomized, Double-blinded,Controlled Study Unknown status NCT02224443 Phase 4 dexmedetomidine;dexmedetomidine;normal saline;midazolam,fentanyl,etomidate,Cisatracurium besylate;cisatracurium besylate,propofol,remifentanil,sevoflurane
4 Effect of Prophylactic Aqueous Suppression on Hyperencapsulation of Ahmed Glaucoma Valves Unknown status NCT01535768 Phase 4 Aqueous Suppressant Eye Drops
5 Escalade or Deseacalade Antibiotic Use in Severe Acute Pancreatitis Unknown status NCT01992198 Phase 4 cefoperazone + metronidazole;Somatostatin;Meropenem
6 A Prospective Evaluation of Open-angle Glaucoma Subjects on Two Topical Hypotensive Medications (One a Prostaglandin) Treated With Two Trabecular Micro-bypass Stents (iStent Inject) and a Postoperative Topical Prostaglandin Unknown status NCT02873806 Phase 4 Topical travoprost;Tobramycin;Dexamethasone
7 The Influence of Adalimumab vs. Fumaric Acid Esters on Cardiovascular and Metabolic Risk Factors in the Therapy of Patients With Moderate to Severe Psoriasis Vulgaris Unknown status NCT01088165 Phase 4 Adalimumab treatment arm;Fumaric acid esters treatment group
8 Comparison of Single and Combination Diuretics in Low-Renin Hypertension Unknown status NCT02351973 Phase 4 Hydrochlorthiazide;Amiloride;Hydrochlorthiazide and Amiloride
9 Effects of Dexmedetomidine Sedation on Delirium and Haemodynamic in Mechanical Ventilated Elderly Patients -a Single Center,Randomized and Controlled Trial Unknown status NCT02225210 Phase 4 Dexmedetomidine;Midazolam;Fentanyl
10 Sevoflurane-based Volatile Induction and Maintenance of Anaesthesia (VIMA) Strategy Decreases the Risk of Postoperative Delirium in Elderly Patients With Registered Cerebral Hypoxemia Episodes During General Surgery Unknown status NCT02133638 Phase 4 Sevoflurane;Propofol
11 The Impact of Treatment of Anaemia With Intravenous Iron on Haematological Values for Patients After Colorectal Surgery Unknown status NCT02999217 Phase 4 Iron isomaltoside;Saline
12 Effects of Estrogen Replacement on Atherosclerosis Progression in Recently Menopausal Women Unknown status NCT00154180 Phase 4 Conjugated equine estrogens 0.45 mg/day;Transdermal estradiol, 50 mcg/day;Micronized progesterone, 200 mg/day x 12 d/month;CEE , progesterone, estradiol patch or placebo for each;CEE, progesterone, transdermal patch or the placebo
13 Evaluation of Antiplatelet Drug Resistance in Taiwanese With VASP & Platelet Mapping™ Assay Unknown status NCT01023360 Phase 4 Clopidogrel and proton pump inhibitors
14 Plantar Fasciitis: Pain Relief and Improvement of Foot Function With Prolotherapy Unknown status NCT01326351 Phase 4
15 Impact of Cyclosporine or Steroid Withdrawal at 3 Months Post Transplantation on Graft Function, Patient Survival and Cardiovascular Surrogate Markers the First 5 Years After Renal Transplantation. Unknown status NCT00903188 Phase 4 cyclosporine;Everolimus
16 Study of Cetuximab in Combination With Chemotherapy for the First Treatment of Metastatic Colorectal Cancer Unknown status NCT01564810 Phase 4 Cetuximab;chemotherapy of mFOLFOX6 or FOLFIRI
17 Randomized, Open Label, Positive Controlled, Multicenter Trial to Evaluate Icotinib as First-line and Maintenance Treatment in EGFR Mutated Patients With Lung Adenocarcinoma Unknown status NCT01665417 Phase 4 Experimental;Chemotherapy;Chemotherapy
18 A Pragmatic Randomized Study to Evaluate the Comparative Effectiveness of AKYNZEO® and Standard of Care (Including EMEND®) for the Prevention of Nausea and Vomiting (CINV) in Cancer Patients Receiving Moderately Emetogenic Chemotherapy in France. Unknown status NCT03831633 Phase 4 Akynzeo;Standard of Care
19 Efficacy and Safety of Shenyankangfu Tablets for Primary Glomerulonephritis-a Multicentre, Prospective, Double-blind, Double-dummy, Randomized Controlled Clinical Trial Unknown status NCT02063100 Phase 4 Shenyankangfu tablets;Losartan potassium 50mg;Shenyankangfu tablets and Losartan potassium 50mg;Shenyankangfu tablets and Losartan potassium 100mg;Losartan potassium 100mg
20 Impact of Irbesartan on Oxidative Stress and C-Reactive Protein Levels in Patients With Persistent Atrial Fibrillation Unknown status NCT00613496 Phase 4 irbesartan;placebo
21 Once a Month High-dose Methylprednisolone During Wash-out Period Between Natalizumab and Fingolimod Treatments in Patients With Multiple Sclerosis: a Randomised, Controlled, Double-blind Trial (NTZ2FTY) Unknown status NCT02769689 Phase 4 Methylprednisolone;Placebo;natalizumab (NTZ);fingolimob (FTY)
22 Efficacy of "Equistasi" on the Gait of Patients Affected by Hemiparesis Due to Cerebrovascular Accident Unknown status NCT02714478 Phase 4
23 Effect of Short-term Synbiotic Treatment on Plasma P-cresol Levels in Hemodialysis Patients Unknown status NCT02311868 Phase 4
24 Transforaminal Epidural Steroid Injection in Conjunction With Pulsed Radiofrequency Treatment of the Lumbar Dorsal Root Ganglion for the Management of Chronic Lumbosacral Radicular Pain: a Randomized, Double-blind Trial Unknown status NCT02930057 Phase 4 Celestone;Control
25 Efficacy of Dexmedetomidine for Cough Suppression During Anesthetic Emergence in Patients Undergoing Thyroid Surgery: A Randomized, Double Blinded, Controlled Trial Unknown status NCT03312413 Phase 4 Dexmedetomidine Hydrochloride;Normal Saline;Dexmedetomidine Hydrochloride;Dexmedetomidine Hydrochloride
26 The Effect of n-3 Fatty Acid Supplementation on the Expression of Sirt-1, Adiponectin Receptor 1 (AdipoR1) & Adiponectin Receptor 2 (AdipoR2) Genes of PBMC and Circulatory Levels of Resistin,Monocyte Chemotactic Protein (MCP-1) and Adiponectin of type2 Diabetes Patient Unknown status NCT02261545 Phase 4
27 The Effect of Dexmedetomidine on Emergence Agitation in Children Undergoing a Surgery Under Desflurane Anesthesia Unknown status NCT01578161 Phase 4 Dexmedetomidine;0.9% Normal Saline
28 Double-blind and Placebo-controlled Study on Intervention Effect of n-3 Fatty Acids on Glucose and Lipid Homeostasis Disorders in Obese/Diabetic Populations Unknown status NCT03708887 Phase 4 Low dose omega-3 fatty acid supplementation;High dose omega-3 fatty acid supplementation;Control drug
29 Comparision Between Hemodynamic Response of Dexmedetomidine and Remifentanil for Epinephrine Local Injection in Patient With Endoscopic Sinus Surgery Under General Anesthesia Unknown status NCT02464722 Phase 4 Dexmedetomidine;Remifentanil;Epinephrine;Propofol;Rocuronium
30 Recovery of Muscle Function After Deep Neuromuscular Block by Means of Dia-phragm Ultrasonography and Adductor Pollicis Acceleromyography: Comparison of Neostigmine vs. Sugammadex as Reversal Drugs. Unknown status NCT02698969 Phase 4 Sugammadex;Neostigmine;Atropine;Rocuronium;Fentanyl;Propofol;Sevoflurane
31 Entecavir Combined Short-term Intravenous Hepatitis B Immune Globulin (HBIG) to Prevent Hepatitis B Recurrence After Liver Transplantation Unknown status NCT02417207 Phase 4 Entecavir combined long-term low-dose HBIG group intramuscular;Entecavir combined HBIG group short-term high-dose intravenous
32 Non-randomized Phase-IV-study to Investigate the Efficacy of FOLFIRI in Combination With Cetuximab in the First-line Treatment of Metastatic Colorectal Cancer Including a Regular Dermal Prophylaxis to Prevent Acneiforme Follicular Exanthema Unknown status NCT01315990 Phase 4 FOLFIRI + Cetuximab
33 "Prospective Randomized Clinical Trial of Ileostomy Closure Site Hernia and it´s Prophylaxis by Placing an Absorbable Mesh " Unknown status NCT02226887 Phase 4
34 GLP-1 Analogue Treatment in Uncontrolled Type 1 Diabetic Patients Unknown status NCT01592279 Phase 4 liraglutide;Insulin injections
35 Safety and Immune Response to Adjuvanted A(H1N1)v Influenza Vaccine in HIV-1 Infected and Immunosuppressed Adults Unknown status NCT01017172 Phase 4
36 Chinese PLA General Hospital Hainan Branch Unknown status NCT03602638 Phase 4 Sitagliptin;Acarbose
37 Effect of Metformin as add-on Therapy on Glycemic Control and Other Diabetes-Related Outcomes in Type 1 Diabetic Patients:a Open-label,Self-control Study Unknown status NCT03590262 Phase 4 Metformin
38 Effect of Sirolimus or Mycophenolate With Tacrolimus on Survival of Pancreas and Kidney Grafts in Type 1 Diabetic Recipients After Simultaneous Pancreas and Kidney Transplantation Unknown status NCT03582878 Phase 4 Sirolimus Oral Product;Mycophenolate Mofetil
39 The Correlation Between Par-4 and Telomere-telomerase System in the New Dignosised Type 2 Diabetes Patients Who Received GLP-1 Analog or Metformin Treatment Unknown status NCT02535299 Phase 4 Liraglutide;Metformin
40 Immune Intervention With Anti-CD20 Monoclonal Antibody to Preserve Beta Cell Function in Early Onset Type 1 Diabetes Unknown status NCT01280682 Phase 4 rituximab
41 Impact of Insulin Detemir Versus Insulin Glargine on Glycaemic Control and Metabolism During Exercise in Type 1 Diabetes Unknown status NCT01440439 Phase 4 Insulin glargine;Insulin detemir
42 A Phase 4, Single Arm, Open Label, Pilot Study of Maraviroc (Celsentri) in Combination With Raltegravir and Darunavir/Ritonavir for the Treatment of Triple Class Failure in Adult HIV-1 Infected Patients. Unknown status NCT01013987 Phase 4 maraviroc;Raltegravir;Darunavir/ritonavir
43 Effect of Maraviroc (MCV) on the Immunological Recovery of HIV-1 Discordant Patients With CD4 Lymphocyte Counts Below 200 Cells/mm3 Unknown status NCT01235013 Phase 4 Maraviroc
44 Effect of Vitamin D Supplement on Osteoprotegin Expression and Disease Progression in Patients With Chronic Kidney Disease Stage 1 and 2 Unknown status NCT01561222 Phase 4 Calcitriol;placebo
45 Flexible Insulin Therapy Untethered Insulin Regimen Using Insulin Degludec and Continuous Subcutaneous Insulin Infusion in Avidly Exercising Patients With Type 1 Diabetes: FIT Untethered Unknown status NCT03838783 Phase 4 Insulin Degludec
46 HIV Pre-Exposure Prophylaxis Priming of Immune Effectors Unknown status NCT02593409 Phase 4 TDF/FTC
47 A Randomized Comparison of Virco®TYPE HIV-1 Testing Versus Expert Interpretation of Genotypic Results for Control of HIV-1 Replication Unknown status NCT00840762 Phase 4
48 Effects of New Longacting Insulin Analogs on Metabolic Control, Endogenous Insulin Production, GH/IGF-I Axis and Quality of Life - Comparison of NPH, Glargine Och Detemir Insulin From the Debut of Type 1 Diabetes Mellitus in Adolescents Unknown status NCT01271517 Phase 4 NPH insulin;Glargine;Detemir
49 Impact of Starting a Dolutegravir-based Regimen on HIV-1 Proviral DNA Reservoir Of Treatment Naïve and Experienced Patients Unknown status NCT02370979 Phase 4
50 The Effect of Saxagliptin on Glucose Fluctuation and Immune Regulation in Patients With Type 1 Diabetes Unknown status NCT02307695 Phase 4 Saxagliptin;Insulin

Search NIH Clinical Center for Aniridia 1

Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia 1

Genetic tests related to Aniridia 1:

# Genetic test Affiliating Genes
1 Aniridia 1 29 PAX6 WT1
2 Cataract with Late-Onset Corneal Dystrophy 29
3 Congenital Aniridia 29

Anatomical Context for Aniridia 1

MalaCards organs/tissues related to Aniridia 1:

40
Eye, Bone, Liver, Prostate, Pancreas, T Cells, Endothelial

Publications for Aniridia 1

Articles related to Aniridia 1:

(show top 50) (show all 1526)
# Title Authors PMID Year
1
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation. 57 6 54 61
17595013 2007
2
Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia. 61 54 6 57
17406642 2007
3
National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology. 54 57 61 6
11826019 2002
4
PAX6 mutation in a family with aniridia, congenital ptosis, and mental retardation. 61 54 6 57
11553050 2001
5
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. 61 54 57 6
11479730 2001
6
PAX6 mutations reviewed. 57 6 54 61
9482572 1998
7
The incidence of PAX6 mutation in patients with simple aniridia: an evaluation of mutation detection in 12 cases. 54 57 61 6
9138149 1997
8
PAX6 gene dosage effect in a family with congenital cataracts, aniridia, anophthalmia and central nervous system defects. 61 54 6 57
7951315 1994
9
PAX6 mutations in aniridia. 61 54 6 57
8364574 1993
10
The human PAX6 gene is mutated in two patients with aniridia. 54 61 6 57
1302030 1992
11
Ocular findings in Gillespie-like syndrome: association with a new PAX6 mutation. 57 6 61
17148041 2006
12
Molecular analysis of a human PAX6 homeobox mutant. 6 57 61
16493447 2006
13
Influence of PAX6 gene dosage on development: overexpression causes severe eye abnormalities. 61 6 57
8689689 1996
14
Three novel aniridia mutations in the human PAX6 gene. 61 57 6
7550230 1995
15
Anterior segment dysgenesis keratolenticular adhesion and aniridia. 61 6 57
6988567 1980
16
Compound heterozygosity for mutations in PAX6 in a patient with complex brain anomaly, neonatal diabetes mellitus, and microophthalmia. 6 57
19876904 2009
17
Heterozygous mutations of OTX2 cause severe ocular malformations. 6 57
15846561 2005
18
Congenital central corneal leukoma (Peters' anomaly). 57 6
1251879 1976
19
PAX6 aniridia and interhemispheric brain anomalies. 61 6 54
19862335 2009
20
Eye anomalies and neurological manifestations in patients with PAX6 mutations. 54 61 6
19898691 2009
21
Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. 61 6 54
18483559 2008
22
Pax6 3' deletion results in aniridia, autism and mental retardation. 54 61 57
18322702 2008
23
Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. 6 54 61
18241071 2008
24
Raised risk of Wilms tumour in patients with aniridia and submicroscopic WT1 deletion. 61 54 6
17630404 2007
25
Three novel mutations of the PAX6 gene in Japanese aniridia patients. 61 6 54
17568989 2007
26
Novel and de-novo truncating PAX6 mutations and ocular phenotypes in Thai aniridia patients. 54 57 61
16543198 2006
27
A novel PAX6 gene mutation in a Chinese family with aniridia. 54 61 6
15889018 2005
28
Mutations of the PAX6 gene detected in patients with a variety of optic-nerve malformations. 61 6 54
12721955 2003
29
Screening for PAX6 gene mutations is consistent with haploinsufficiency as the main mechanism leading to various ocular defects. 61 54 6
12634864 2003
30
Missense mutations in the DNA-binding region and termination codon in PAX6. 61 54 6
12552561 2003
31
Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. 61 57 54
12386836 2002
32
PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans. 61 54 57
11431688 2001
33
Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. 6 54 61
11309364 2001
34
3' deletions cause aniridia by preventing PAX6 gene expression. 54 61 57
11087823 2000
35
Prenatal diagnosis of aniridia. 61 57 54
10857836 2000
36
Two nonsense mutations of PAX6 in two Japanese aniridia families: case report and review of the literature. 61 6 54
10887930 2000
37
Mutation in the PAX6 gene in twenty patients with aniridia. 6 61 54
10737978 2000
38
Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. 61 6 54
10234503 1999
39
Ten novel mutations found in Aniridia. 61 54 6
9792406 1998
40
A new PAX6 mutation in familial aniridia. 54 61 6
7666404 1995
41
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. 54 57 61
7795596 1995
42
Mutations in the PAX6 gene in patients with hereditary aniridia. 6 61 54
8111379 1993
43
Detection of a cryptic paracentric inversion within band 11p13 in familial aniridia by fluorescence in situ hybridization. 54 61 57
8478003 1993
44
Submicroscopic deletions at the WAGR locus, revealed by nonradioactive in situ hybridization. 54 57 61
1334370 1992
45
Positional cloning and characterization of a paired box- and homeobox-containing gene from the aniridia region. 57 61 54
1684738 1991
46
Mouse small eye results from mutations in a paired-like homeobox-containing gene. 57 54 61
1684639 1991
47
PAX6 molecular analysis and genotype-phenotype correlations in families with aniridia from Australasia and Southeast Asia. 61 6
29618921 2018
48
PAX6 allelic heterogeneity in Mexican congenital aniridia patients: expanding the mutational spectrum with seven novel pathogenic variants. 61 6
28488383 2017
49
Molecular analysis of patients with aniridia in Russian Federation broadens the spectrum of PAX6 mutations. 6 61
28321846 2017
50
Correlation of novel PAX6 gene abnormalities in aniridia and clinical presentation. 6 61
29217025 2017

Variations for Aniridia 1

ClinVar genetic disease variations for Aniridia 1:

6 (show top 50) (show all 401)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PAX6 NM_001310160.1(PAX6):c.-670C>T SNV Pathogenic 40090 rs397514640 GRCh37: 11:31824281-31824281
GRCh38: 11:31802733-31802733
2 overlap with 8 genes NC_000011.8:g.30967000_31704000del737001 Deletion Pathogenic 267196 GRCh37: 11:31010424-31747424
GRCh38: 11:30988877-31725876
3 PAX6 NC_000011.8:g.31779000_31933000del154001 Deletion Pathogenic 267193 GRCh37: 11:31822424-31976424
GRCh38:
4 overlap with 7 genes NC_000011.8:g.31379000_31708000del329001 Deletion Pathogenic 267199 GRCh37: 11:31422424-31751424
GRCh38: 11:31400877-31729876
5 overlap with 5 genes NC_000011.8:g.31199000_31849000del650001 Deletion Pathogenic 267191 GRCh37: 11:31242424-31892424
GRCh38:
6 overlap with 2 genes NC_000006.10:g.1543591_1675085del131495 Deletion Pathogenic 267200 GRCh37: 6:1598592-1730086
GRCh38:
7 overlap with 6 genes NC_000011.8:g.31698271_31794414del96144 Deletion Pathogenic 267194 GRCh37: 11:31741695-31837838
GRCh38: 11:31720147-31816290
8 overlap with 7 genes NC_000011.8:g.31108579_31649842del541264 Deletion Pathogenic 267197 GRCh37: 11:31152003-31693266
GRCh38: 11:31130456-31671718
9 PAX6 NM_000280.4(PAX6):c.357C>G (p.Ser119Arg) SNV Pathogenic 430991 rs121907928 GRCh37: 11:31823109-31823109
GRCh38: 11:31801561-31801561
10 PAX6 NM_001368911.1(PAX6):c.1078-827_1078-824del Microsatellite Pathogenic 431007 rs1131692317 GRCh37: 11:31812391-31812394
GRCh38: 11:31790843-31790846
11 PAX6 NM_000280.4(PAX6):c.265C>T (p.Gln89Ter) SNV Pathogenic 430986 rs1131692297 GRCh37: 11:31823201-31823201
GRCh38: 11:31801653-31801653
12 PAX6 NM_000280.4(PAX6):c.300G>A (p.Trp100Ter) SNV Pathogenic 430989 rs1131692300 GRCh37: 11:31823166-31823166
GRCh38: 11:31801618-31801618
13 PAX6 NM_000280.4(PAX6):c.760del (p.Ile254fs) Deletion Pathogenic 431002 rs1131692312 GRCh37: 11:31815585-31815585
GRCh38: 11:31794037-31794037
14 PAX6 NM_000280.4(PAX6):c.140A>G (p.Gln47Arg) SNV Pathogenic 430978 rs1131692289 GRCh37: 11:31824253-31824253
GRCh38: 11:31802705-31802705
15 PAX6 NM_000280.4(PAX6):c.467G>A (p.Trp156Ter) SNV Pathogenic 430996 rs1131692306 GRCh37: 11:31822295-31822295
GRCh38: 11:31800747-31800747
16 PAX6 NM_001310160.1(PAX6):c.-8del Deletion Pathogenic 430993 rs1131692303 GRCh37: 11:31822361-31822361
GRCh38: 11:31800813-31800813
17 PAX6 NM_001310160.1(PAX6):c.-657_-656delinsC Indel Pathogenic 430975 rs1131692287 GRCh37: 11:31824267-31824268
GRCh38: 11:31802719-31802720
18 PAX6 NM_000280.4(PAX6):c.781C>T (p.Arg261Ter) SNV Pathogenic 279862 rs886041222 GRCh37: 11:31815335-31815335
GRCh38: 11:31793787-31793787
19 PAX6 NM_000280.4(PAX6):c.184G>T (p.Glu62Ter) SNV Pathogenic 430984 rs1131692295 GRCh37: 11:31823282-31823282
GRCh38: 11:31801734-31801734
20 PAX6 NM_001310160.1(PAX6):c.-449_-446dup Duplication Pathogenic 430987 rs1131692298 GRCh37: 11:31823171-31823172
GRCh38: 11:31801623-31801624
21 PAX6 NM_001310160.1(PAX6):c.-42_-36del Deletion Pathogenic 430992 rs1131692302 GRCh37: 11:31822389-31822395
GRCh38: 11:31800841-31800847
22 PAX6 NM_000280.4(PAX6):c.879del (p.Ser294fs) Deletion Pathogenic 431005 rs1131692315 GRCh37: 11:31815237-31815237
GRCh38: 11:31793689-31793689
23 PAX6 NM_000280.4(PAX6):c.1183G>T (p.Gly395Ter) SNV Pathogenic 431008 rs1131692318 GRCh37: 11:31812258-31812258
GRCh38: 11:31790710-31790710
24 PAX6 NM_000280.4(PAX6):c.1A>G (p.Met1Val) SNV Pathogenic 430971 rs1131692284 GRCh37: 11:31827959-31827959
GRCh38: 11:31806411-31806411
25 PAX6 NM_001310160.1(PAX6):c.-704del Deletion Pathogenic 430974 rs1131692286 GRCh37: 11:31824315-31824315
GRCh38: 11:31802767-31802767
26 PAX6 NM_000280.4(PAX6):c.130C>T (p.Arg44Ter) SNV Pathogenic 430976 rs141873759 GRCh37: 11:31824263-31824263
GRCh38: 11:31802715-31802715
27 PAX6 NM_000280.4(PAX6):c.151G>A (p.Gly51Arg) SNV Pathogenic 430982 rs1131692293 GRCh37: 11:31823315-31823315
GRCh38: 11:31801767-31801767
28 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter) SNV Pathogenic 430994 rs1131692304 GRCh37: 11:31822359-31822359
GRCh38: 11:31800811-31800811
29 PAX6 NM_000280.4(PAX6):c.661C>T (p.Gln221Ter) SNV Pathogenic 430999 rs1131692309 GRCh37: 11:31816199-31816199
GRCh38: 11:31794651-31794651
30 PAX6 NM_000280.4(PAX6):c.491del (p.Pro164fs) Deletion Pathogenic 430997 rs1131692307 GRCh37: 11:31822271-31822271
GRCh38: 11:31800723-31800723
31 PAX6 NM_000280.4(PAX6):c.792dup (p.Trp265fs) Duplication Pathogenic 431003 rs1131692313 GRCh37: 11:31815323-31815324
GRCh38: 11:31793775-31793776
32 PAX6 NM_000280.4(PAX6):c.120C>A (p.Cys40Ter) SNV Pathogenic 460456 rs1329112134 GRCh37: 11:31824273-31824273
GRCh38: 11:31802725-31802725
33 PAX6 NM_000280.4(PAX6):c.495del (p.Thr166fs) Deletion Pathogenic 460463 rs1554984996 GRCh37: 11:31822267-31822267
GRCh38: 11:31800719-31800719
34 PAX6 NM_000280.4(PAX6):c.357+4A>T SNV Pathogenic 460459 rs1554985282 GRCh37: 11:31823105-31823105
GRCh38: 11:31801557-31801557
35 ELP4 , PAX6 NM_019040.5(ELP4):c.*6459_*6465del Deletion Pathogenic 460457 rs1554982299 GRCh37: 11:31811530-31811536
GRCh38: 11:31789982-31789988
36 PAX6 NM_000280.4(PAX6):c.607C>T (p.Arg203Ter) SNV Pathogenic 3466 rs121907916 GRCh37: 11:31816253-31816253
GRCh38: 11:31794705-31794705
37 PAX6 NM_000280.4(PAX6):c.3G>A (p.Met1Ile) SNV Pathogenic 460461 rs1554986754 GRCh37: 11:31827957-31827957
GRCh38: 11:31806409-31806409
38 PAX6 NM_000280.4(PAX6):c.358delG Deletion Pathogenic 284286 rs886042838 GRCh37: 11:31822404-31822404
GRCh38: 11:31800856-31800856
39 PAX6 NM_000280.4(PAX6):c.538C>T (p.Gln180Ter) SNV Pathogenic 492994 rs1554983571 GRCh37: 11:31816322-31816322
GRCh38: 11:31794774-31794774
40 PAX6 NM_001310160.1(PAX6):c.-668_-661del Deletion Pathogenic 492991 rs1554985737 GRCh37: 11:31824272-31824279
GRCh38: 11:31802724-31802731
41 PAX6 NM_000280.4(PAX6):c.820C>T (p.Gln274Ter) SNV Pathogenic 492995 rs1554983229 GRCh37: 11:31815296-31815296
GRCh38: 11:31793748-31793748
42 PAX6 NM_001310160.1(PAX6):c.-502_-499dup Duplication Pathogenic 492992 rs1554985378 GRCh37: 11:31823224-31823225
GRCh38: 11:31801676-31801677
43 PAX6 NM_000280.4(PAX6):c.1183+1G>A SNV Pathogenic 492996 rs1554982537 GRCh37: 11:31812257-31812257
GRCh38: 11:31790709-31790709
44 PAX6 NM_000280.4(PAX6):c.3G>T (p.Met1Ile) SNV Pathogenic 492990 rs1554986754 GRCh37: 11:31827957-31827957
GRCh38: 11:31806409-31806409
45 PAX6 NM_000280.4(PAX6):c.325G>T (p.Glu109Ter) SNV Pathogenic 492993 rs1554985305 GRCh37: 11:31823141-31823141
GRCh38: 11:31801593-31801593
46 PAX6 NM_001310160.1(PAX6):c.-441G>A SNV Pathogenic 559407 rs1554985320 GRCh37: 11:31823167-31823167
GRCh38: 11:31801619-31801619
47 PAX6 NM_001310160.1(PAX6):c.-680_-676delinsAACC Indel Pathogenic 565950 rs1565245835 GRCh37: 11:31824287-31824291
GRCh38: 11:31802739-31802743
48 PAX6 NM_000280.4(PAX6):c.114dup (p.Pro39fs) Duplication Pathogenic 567776 rs1565245598 GRCh37: 11:31824278-31824279
GRCh38: 11:31802730-31802731
49 PAX6 NM_000280.4(PAX6):c.403C>T (p.Gln135Ter) SNV Pathogenic 430994 rs1131692304 GRCh37: 11:31822359-31822359
GRCh38: 11:31800811-31800811
50 PAX6 NM_000280.4(PAX6):c.357+1G>A SNV Pathogenic 92758 rs398123295 GRCh37: 11:31823108-31823108
GRCh38: 11:31801560-31801560

UniProtKB/Swiss-Prot genetic disease variations for Aniridia 1:

72 (show all 28)
# Symbol AA change Variation ID SNP ID
1 PAX6 p.Asn17Ser VAR_003808
2 PAX6 p.Gly18Trp VAR_003809
3 PAX6 p.Ile29Val VAR_003811
4 PAX6 p.Arg44Gln VAR_003812
5 PAX6 p.Ile87Arg VAR_003813
6 PAX6 p.Gln178His VAR_003815
7 PAX6 p.Arg208Trp VAR_003816 rs757259413
8 PAX6 p.Ile29Ser VAR_008694
9 PAX6 p.Ala33Pro VAR_008695
10 PAX6 p.Ile42Ser VAR_008697
11 PAX6 p.Ser43Pro VAR_008698
12 PAX6 p.Val53Leu VAR_008699
13 PAX6 p.Thr63Pro VAR_008701
14 PAX6 p.Ala79Glu VAR_008703
15 PAX6 p.Ser119Arg VAR_008704 rs121907928
16 PAX6 p.Val126Asp VAR_008705 rs121907919
17 PAX6 p.Arg208Gln VAR_008706 rs749244084
18 PAX6 p.Ser353Ala VAR_008707 rs373661718
19 PAX6 p.Gln422Arg VAR_008708 rs780356070
20 PAX6 p.Pro375Gln VAR_015066 rs200015827
21 PAX6 p.Arg19Pro VAR_047860
22 PAX6 p.Leu46Arg VAR_047861
23 PAX6 p.Cys52Arg VAR_047862
24 PAX6 p.Ile56Thr VAR_047863
25 PAX6 p.Gly73Asp VAR_047864
26 PAX6 p.Ile87Lys VAR_047865
27 PAX6 p.Arg242Thr VAR_047866 rs121907927
28 PAX6 p.Gly395Arg VAR_067698

Copy number variations for Aniridia 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 51321 11 125001547 125215177 Deletion PAX6 Aniridia syndrome
2 53570 11 31000000 36400000 Deletion WT1 Aniridia syndrome
3 31786 11 31000000 36400000 Copy number PAX6 Aniridia syndrome

Expression for Aniridia 1

Search GEO for disease gene expression data for Aniridia 1.

Pathways for Aniridia 1

Pathways related to Aniridia 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 PITX2 PAX6 PAX3 FOXC1 ELP4
2 10.76 SIX3 PAX6 FOXC1

GO Terms for Aniridia 1

Cellular components related to Aniridia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chromatin GO:0000785 9.23 WT1 SIX3 PITX3 PITX2 PAX6 PAX3

Biological processes related to Aniridia 1 according to GeneCards Suite gene sharing:

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.06 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
2 regulation of transcription by RNA polymerase II GO:0006357 10.06 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
3 positive regulation of transcription by RNA polymerase II GO:0045944 9.97 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
4 visual perception GO:0007601 9.84 SIX3 PAX6 KRT12 CRYAA
5 anatomical structure morphogenesis GO:0009653 9.73 PITX3 PITX2 FOXE3 FOXC1
6 lens fiber cell differentiation GO:0070306 9.55 SIX3 PITX3
7 positive regulation of core promoter binding GO:1904798 9.52 PAX6 FOXC1
8 lacrimal gland development GO:0032808 9.51 PAX6 FOXC1
9 cornea development in camera-type eye GO:0061303 9.5 PAX6 KRT12 FOXE3
10 telencephalon regionalization GO:0021978 9.49 SIX3 PAX6
11 forebrain dorsal/ventral pattern formation GO:0021798 9.48 SIX3 PAX6
12 eye development GO:0001654 9.46 SIX3 PAX6 FOXE3 FOXC1
13 iris morphogenesis GO:0061072 9.43 PITX2 PAX6 FOXE3
14 lens development in camera-type eye GO:0002088 9.26 SIX3 PITX3 PAX6 FOXE3
15 camera-type eye development GO:0043010 9.02 WT1 PITX2 PAX6 FOXE3 FOXC1

Molecular functions related to Aniridia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
2 sequence-specific double-stranded DNA binding GO:1990837 9.8 SIX3 PITX3 PITX2 PAX6 PAX3
3 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.76 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
4 sequence-specific DNA binding GO:0043565 9.72 WT1 PAX6 PAX3 FOXE3 FOXC1
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 WT1 PITX2 PAX6 FOXC1
6 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.65 WT1 SIX3 PITX3 PAX6 FOXC1
7 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.56 WT1 SIX3 PITX3 PITX2 PAX6 PAX3
8 HMG box domain binding GO:0071837 9.43 PAX6 PAX3
9 DNA-binding transcription factor activity GO:0003700 9.17 WT1 PITX3 PITX2 PAX6 PAX3 FOXE3

Sources for Aniridia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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