MCID: ANR002
MIFTS: 60

Aniridia malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

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Aliases & Descriptions for Aniridia:

Name: Aniridia 52 11 23 48 24 25 70 27 12 50 39 13
Cataract with Late-Onset Corneal Dystrophy 52 27
Congenital Aniridia 25 27
Aniridia Type Ii 70
Aniridia Type 2 68
 
Aplasia of Iris 11
Absent Iris 25
Irideremia 25
An2 70
an 70

Characteristics:

HPO:

64
aniridia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%...


Classifications:



External Ids:

OMIM52 106210
Disease Ontology11 DOID:12271
ICD1030 Q13.1
ICD9CM32 743.45
SNOMED-CT62 204161008, 69278003
MeSH39 D015783
NCIt45 C84563
MedGen37 C0003076

Summaries for Aniridia

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NIH Rare Diseases:48 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. Last updated: 10/19/2016

MalaCards based summary: Aniridia, also known as cataract with late-onset corneal dystrophy, is related to anterior segment mesenchymal dysgenesis and peters anomaly, and has symptoms including visual impairment, nystagmus and abnormality of the macula. An important gene associated with Aniridia is PAX6 (Paired Box 6), and among its related pathways is Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, kidney and pituitary, and related mouse phenotypes are pigmentation and liver/biliary system.

Genetics Home Reference:25 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).

OMIM:52 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

UniProtKB/Swiss-Prot:70 Aniridia: 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:71 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews for NBK1360

Related Diseases for Aniridia

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

(show top 50)    (show all 129)
idRelated DiseaseScoreTop Affiliating Genes
1anterior segment mesenchymal dysgenesis31.7FOXC1, FOXE3, PITX3
2peters anomaly29.2CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3
3wagr syndrome11.9
4hair-an syndrome11.9
5gillespie syndrome11.9
6isolated aniridia11.9
7systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease11.9
8aniridia and absent patella11.8
9aniridia - ptosis - intellectual disability - familial obesity11.8
10aniridia renal agenesis psychomotor retardation11.8
11aniridia, partial, with unilateral renal agenesis and psychomotor retardation11.8
12sickle cell disease associated with an other hemoglobin anomaly11.7
13hemophagocytic syndrome associated with an infection11.7
14silver-russell syndrome due to an imprinting defect of 11p1511.7
15polydactyly of an index finger, unilateral11.7
16polydactyly of an index finger, bilateral11.7
17acute lymphoblastic leukemia congenital sporadic aniridia11.7
18wilms tumor-aniridia-genital anomalies-retardation syndrome11.7
19aniridia-intellectual disability syndrome11.7
20acanthosis nigricans11.2
21encephalopathy, acute, infection-induced, 411.1
22achromatopsia-411.1
23alopecia, neurologic defects, and endocrinopathy syndrome11.0
24polydactyly, preaxial iii10.9
25axenfeld-rieger syndrome, type 110.8
26foveal hypoplasia 110.8
27foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis10.8
28bile duct cystadenocarcinoma10.7
29morel's ear10.7
30ataxia neuropathy spectrum10.7
31immunodeficiency due to a classical component pathway complement deficiency10.7
32wagro syndrome10.7
33walker dyson syndrome10.7
34zazam sheriff phillips syndrome10.7
35leukemia10.7
36aneurysm10.7
37meningitis10.6
38aortic aneurysm10.6
39myocardial infarction10.6
40hepatitis10.6
41breast cancer10.6
42barth syndrome10.6
43rheumatoid arthritis10.6
44vaginitis10.6
45hyperlipidemia type 310.6
46asthma10.6
47prostate cancer10.6
48cerebritis10.6
49phenylketonuria10.6
50aphakia, congenital primary10.5FOXE3, PITX3

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms & Phenotypes for Aniridia

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Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

 64 (show all 30)
id Description HPO Frequency HPO Source Accession
1 visual impairment64 hallmark (90%) HP:0000505
2 nystagmus64 hallmark (90%) HP:0000639
3 abnormality of the macula64 hallmark (90%) HP:0001103
4 aplasia/hypoplasia of the iris64 hallmark (90%) HP:0008053
5 glaucoma64 typical (50%) HP:0000501
6 cataract64 typical (50%) HP:0000518
7 opacification of the corneal stroma64 typical (50%) HP:0007759
8 strabismus64 typical (50%) HP:0000486
9 ptosis64 typical (50%) HP:0000508
10 blepharophimosis64 typical (50%) HP:0000581
11 photophobia64 typical (50%) HP:0000613
12 optic atrophy64 typical (50%) HP:0000648
13 ectopia lentis64 typical (50%) HP:0001083
14 keratoconjunctivitis sicca64 typical (50%) HP:0001097
15 corneal erosion64 typical (50%) HP:0200020
16 abnormality of the genital system64 occasional (7.5%) HP:0000078
17 abnormality of the teeth64 occasional (7.5%) HP:0000164
18 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
19 microcornea64 occasional (7.5%) HP:0000482
20 optic nerve coloboma64 occasional (7.5%) HP:0000588
21 abnormality of the hypothalamus-pituitary axis64 occasional (7.5%) HP:0000864
22 ocular albinism64 occasional (7.5%) HP:0001107
23 umbilical hernia64 occasional (7.5%) HP:0001537
24 abnormality of the sense of smell64 occasional (7.5%) HP:0004408
25 aplasia/hypoplasia of the corpus callosum64 occasional (7.5%) HP:0007370
26 cognitive impairment64 occasional (7.5%) HP:0100543
27 decreased corneal thickness64 occasional (7.5%) HP:0100689
28 aniridia64 HP:0000526
29 optic nerve hypoplasia64 HP:0000609
30 hypoplasia of the fovea64 HP:0007750

MGI Mouse Phenotypes related to Aniridia according to GeneCards Suite gene sharing:

41 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.7FOXC1, OTX2, PAX6, PITX2, PITX3
2MP:00053709.1FOXC1, IGF2, LGR4, PITX2, PITX3, WT1
3MP:00053889.1FOXC1, IGF2, OTX2, PAX6, PITX2, PITX3
4MP:00053819.0FOXC1, IGF2, LGR4, OTX2, PAX6, PITX2
5MP:00030128.8IGF2, KRT12, LGR4, PITX2, PITX3, WT1
6MP:00053808.8FOXC1, IGF2, LGR4, OTX2, PAX6, PITX2
7MP:00028738.4FOXC1, KRT12, LUZP2, OTX2, PAX4, PAX6
8MP:00053857.9FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
9MP:00053897.8FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
10MP:00053797.8FOXC1, IGF2, LGR4, OTX2, PAX4, PAX6
11MP:00053847.6CAT, FOXC1, IGF2, LGR4, NR2E1, OTX2
12MP:00053787.3FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX4
13MP:00053767.1CAT, CYP1B1, FOXC1, IGF2, LGR4, OTX2
14MP:00053916.5CYP1B1, FOXC1, IGF2, KRT12, LGR4, NR2E1

Drugs & Therapeutics for Aniridia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Hemostatics1359

Interventional clinical trials:

(show all 13)
idNameStatusNCT IDPhase
1Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell DeficiencyUnknown statusNCT00845117Phase 1, Phase 2
2Study of Ataluren in Patients With AniridiaRecruitingNCT02647359Phase 2
3Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialRecruitingNCT02318485Phase 2
4Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete AniridiaActive, not recruitingNCT00812708Phase 1
5Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
6Positive Angle KappaCompletedNCT01644552
7Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
8Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
9Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
10Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893
11Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris DefectsRecruitingNCT01860612
12Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at SanfordRecruitingNCT01793168
13Safety and Performance Study of the ARGOS-IO System in Patients Undergoing Boston Keratoprosthesis ImplantationActive, not recruitingNCT02945176

Search NIH Clinical Center for Aniridia


Cochrane evidence based reviews: aniridia

Genetic Tests for Aniridia

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Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Cataract with Late-Onset Corneal Dystrophy27
2 Aniridia27 24 PAX6
3 Congenital Aniridia27

Anatomical Context for Aniridia

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MalaCards organs/tissues related to Aniridia:

36
Eye, Kidney, Pituitary, Hypothalamus, Endothelial, Brain, Bone

Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 540)
idTitleAuthorsYear
1
A mouse model of aniridia reveals the in vivo downstream targets of Pax6 driving iris and ciliary body development in the eye. (27771509)
2017
2
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. (27109391)
2016
3
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. (27081561)
2016
4
Management of aniridia and iris defects: an update on iris prosthesis options. (26871656)
2016
5
Chronic post-operative iris prosthesis endophthalmitis in a patient with traumatic aniridia: a case report. (27829389)
2016
6
Aniridia after blunt trauma and presumed wound dehiscence in a pseudophakic eye. (26840167)
2016
7
Congenital Aniridia and the Ocular Surface. (26738798)
2016
8
A nonsense PAX6 mutation in a family with congenital aniridia. (28018434)
2016
9
Histopathology Findings of Corneal Buttons in Congenital Aniridia Patients. (27160090)
2016
10
PAX6, brain structure and function in human adults: advanced MRI in aniridia. (27231702)
2016
11
Prevention of Silicone Oil Migration and Baerveldt Tube Blockage in Retinal Detachment Surgery with Partial Aniridia. (27116526)
2016
12
Screening of PAX6 gene in Italian congenital aniridia patients revealed four novel mutations. (26849621)
2016
13
Identification of a novel frameshift heterozygous deletion in exonA 8 of the PAX6 gene in a pedigree with aniridia. (27431685)
2016
14
Long-term results after artificial iris implantation in patients with aniridia. (26892143)
2016
15
Transpupillary Argon Laser Cyclophotocoagulation in a Refractory Traumatic Glaucoma Patient with Aphakia and Aniridia. (27800256)
2016
16
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome. (27124303)
2016
17
Assessment of PAX6 alleles in 66 families with aniridia. (26661695)
2016
18
Combined cataract phacoemulsification and aniridia endocapsular rings implantation in a patient with bilateral congenital aniridia and cataract: A case report. (26949363)
2016
19
Clinical utility gene card for: Aniridia. (27381094)
2016
20
Large Pupils in Infancy. . .Suspected Aniridia. (26835993)
2016
21
Congenital Aniridia with Ectopia Lentis. (27630877)
2016
22
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. (26451366)
2015
23
Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family. (25687215)
2015
24
A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation. (25628759)
2015
25
A novel PAX6 deletion in a Chinese family with congenital aniridia. (25746674)
2015
26
The efficacy and complications of black diaphragm intra-ocular lens implantation in patients with congenital aniridia. (26648453)
2015
27
Phacoemulsification with implantation of Morcher aniridia capsular rings for postoperative atonic pupil after iridencleisis--case report. (26349153)
2015
28
A rare PAX6 mutation in a Chinese family with congenital aniridia. (26535646)
2015
29
Mutational analysis and genotype-phenotype correlations in southern Indian patients with sporadic and familial aniridia. (25678763)
2015
30
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. (26394807)
2015
31
Xenopus pax6 mutants affect eye development and other organ systems, and have phenotypic similarities to human aniridia patients. (25724657)
2015
32
Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. (26703494)
2015
33
Case of aniridia with a heterozygous PAX6 mutation in which the glucagon response to arginine was evaluated. (25621140)
2015
34
A novel splice site mutation in the PAX6 gene in a Korean family with isolated aniridia. (25696017)
2015
35
Sutureless artificial iris after phacoemulsification in congenital aniridia. (25738840)
2015
36
A familial pericentric inversion of chromosome 11 associated with a microdeletion of 163kb and microduplication of 288kb at 11p13 and 11q22.3 without aniridia or eye anomalies. (26419218)
2015
37
Silicone Oil Retention Sutures for Retinal Detachment Repair Following Traumatic Aniridia, Aphakia, and Ruptured Globe. (26356004)
2015
38
Keratopathy, cataract, and dry eye in a survey of aniridia subjects. (25709391)
2015
39
Anesthetic management of a patient with Wilms tumor, aniridia, genital anomalies and mental retardation syndrome undergoing right nephrectomy. (25948930)
2015
40
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. (24848376)
2014
41
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. (24519938)
2014
42
Treatment of congenital aniridia associated with subluxated infantile cataract. (25195356)
2014
43
Clinical Manifestations of Congenital Aniridia. (24369682)
2014
44
Treatment of congenital aniridia associated with subluxated infantile cataract. (25568537)
2014
45
Outcomes following Boston type 1 keratoprosthesis implantation in aniridia patients at the University of Montreal. (24844976)
2014
46
Congenital aniridia: long-term clinical course, visual outcome, and prognostic factors. (25435751)
2014
47
A novel duplication in the PAX6 gene in a North Indian family with aniridia. (25189681)
2014
48
Investigation of a PAX6 gene mutation in a Malaysian family with congenital aniridia. (24737507)
2014
49
Three-year outcomes of cultured limbal epithelial allografts in aniridia and Stevens-Johnson syndrome evaluated using the Clinical Outcome Assessment in Surgical Trials assessment tool. (24443006)
2014
50
Modified McCannel iridoplasty simulating basal iridectomy for silicone oil tamponade in aphakia and partial aniridia. (24771181)
2014

Variations for Aniridia

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UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

70 (show all 28)
id Symbol AA change Variation ID SNP ID
1PAX6p.Asn17SerVAR_003808
2PAX6p.Gly18TrpVAR_003809
3PAX6p.Ile29ValVAR_003811
4PAX6p.Arg44GlnVAR_003812
5PAX6p.Ile87ArgVAR_003813
6PAX6p.Gln178HisVAR_003815
7PAX6p.Arg208TrpVAR_003816rs757259413
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704rs121907928
16PAX6p.Val126AspVAR_008705rs121907919
17PAX6p.Arg208GlnVAR_008706rs749244084
18PAX6p.Ser353AlaVAR_008707rs373661718
19PAX6p.Gln422ArgVAR_008708rs780356070
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866rs121907927
28PAX6p.Gly395ArgVAR_067698

Clinvar genetic disease variations for Aniridia:

5 (show all 17)
id Gene Variation Type Significance SNP ID Assembly Location
1ELP4NM_019040.4(ELP4): c.1143+14176C> ASNVPathogenicrs606231388GRCh38Chr 11, 31664397: 31664397
2PAX6NM_000280.4(PAX6): c.894_895insCAGTGTCTACCAACCA (p.Ile299Glnfs)insertionPathogenicrs797044627GRCh37Chr 11, 31815221: 31815222
3PAX6NM_000280.4(PAX6): c.1242_1243insATATG (p.Ser415Ilefs)insertionPathogenicrs797044642GRCh37Chr 11, 31811508: 31811509
4PAX6NM_000280.4(PAX6): c.358delG (p.Val120Cysfs)deletionPathogenicrs886042838GRCh37Chr 11, 31822404: 31822404
5PAX6NM_000280.4(PAX6): c.482delG (p.Gly161Valfs)deletionPathogenicrs886043350GRCh37Chr 11, 31822280: 31822280
6PAX6NM_000280.4(PAX6): c.52G> C (p.Gly18Arg)SNVLikely pathogenicrs886044289GRCh37Chr 11, 31824341: 31824341
7PAX6PAX6, 2-BP INSinsertionPathogenicChr na, -1: -1
8PAX6PAX6, EXON G DELdeletionPathogenicChr na, -1: -1
9PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)SNVPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
10PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)SNVPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
11PAX6NG_008679.1: g.32252G> CSNVPathogenicGRCh38Chr 11, 31790710: 31790860
12PAX6NM_001604.5(PAX6): c.1075-2A> GSNVPathogenicrs794726661GRCh38Chr 11, 31790862: 31790862
13PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)SNVPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
14PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)SNVPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
15PAX6NM_000280.4(PAX6): c.-129+2T> ASNVPathogenicrs878852979GRCh38Chr 11, 31810826: 31810826
16PAX6NM_000280.4(PAX6): c.771G> A (p.Trp257Ter)SNVPathogenicrs121907929GRCh37Chr 11, 31815345: 31815345
17PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)SNVPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281

Copy number variations for Aniridia from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
131786113100000036400000Copy numberPAX6Aniridia syndrome
25132111125001547125215177DeletionPAX6Aniridia syndrome
353570113100000036400000DeletionWT1Aniridia syndrome

Expression for genes affiliated with Aniridia

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Search GEO for disease gene expression data for Aniridia.

Pathways for genes affiliated with Aniridia

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Pathways related to Aniridia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.1LGR4, OTX2, PAX4, PAX6, WT1

GO Terms for genes affiliated with Aniridia

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.8FOXC1, PAX6
2cornea development in camera-type eyeGO:006130310.8FOXE3, PAX6
3response to vitamin AGO:003318910.6CAT, PITX2
4negative regulation of neural precursor cell proliferationGO:200017810.6NR2E1, PAX6
5trabecular meshwork developmentGO:000293010.6CYP1B1, FOXE3
6iris morphogenesisGO:006107210.5FOXE3, PAX6, PITX2
7eye developmentGO:000165410.5FOXC1, FOXE3, PAX6
8kidney developmentGO:000182210.4CAT, FOXC1, WT1
9lens development in camera-type eyeGO:000208810.4FOXE3, PAX6, PITX3
10dopaminergic neuron differentiationGO:007154210.4OTX2, PITX3
11ureteric bud developmentGO:000165710.2CAT, FOXC1, WT1
12male genitalia developmentGO:003053910.2LGR4, WT1
13brain developmentGO:000742010.1FOXC1, NR2E1, PAX6, PITX2
14regulation of transcription from RNA polymerase II promoterGO:000635710.0ELP4, FOXE3, PAX6, PITX2, WT1
15retina development in camera-type eyeGO:00600419.9NR2E1, PAX4, PAX6
16animal organ morphogenesisGO:00098879.8PAX4, PAX6, PITX2, PITX3
17camera-type eye developmentGO:00430109.6FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
18negative regulation of apoptotic processGO:00430669.3CAT, FOXE3, NR2E1, PAX4, WT1
19transcription from RNA polymerase II promoterGO:00063669.0FOXC1, FOXE3, OTX2, PAX6, PITX2, PITX3
20visual perceptionGO:00076019.0CYP1B1, KRT12, NR2E1, PAX6
21positive regulation of transcription from RNA polymerase II promoterGO:00459448.9FOXC1, NR2E1, OTX2, PAX6, PITX2, PITX3
22positive regulation of transcription, DNA-templatedGO:00458938.5FOXC1, LGR4, OTX2, PAX6, PITX2, PITX3

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:000098110.2FOXC1, FOXE3, PAX6, PITX2
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.8OTX2, PAX6, PITX2, PITX3
3sequence-specific DNA bindingGO:00435659.4FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.4NR2E1, OTX2, PAX6, PITX2, PITX3, WT1

Sources for Aniridia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet