MCID: ANR002
MIFTS: 72

Aniridia malady

Genetic diseases, Rare diseases, Eye diseases categories

Aliases & Classifications for Aniridia

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Aliases & Descriptions for Aniridia:

Name: Aniridia 49 10 11 21 45 22 23 47 12 36 67
Cataract with Late-Onset Corneal Dystrophy 49 24
Congenital Aniridia 23 24
Aniridia Ii, Formerly 24
Aniridia Type Ii 67
 
Aplasia of Iris 10
Absent Iris 23
Irideremia 23
An2 67
an 67


Classifications:



External Ids:

OMIM49 106210
Disease Ontology10 DOID:12271
NCIt42 C84563
ICD9CM29 743.45
SNOMED-CT59 69278003, 204161008
MeSH36 D015783
ICD1027 Q13.1
MedGen34 C0003076

Summaries for Aniridia

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NIH Rare Diseases:45 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).  aniridia may occur either as an isolated eye abnormality or as part of the wilms tumor-aniridia-genital anomalies-retardation (wagr) syndrome. people with aniridia can also have other eye problems including increased pressure in the eye (glaucoma), clouding of the lens of the eye (cataracts), or underdevelopment of the structures that carry information from the eyes to the brain (optic nerves).  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.aniridia may be caused by mutations in the pax6 gene and is inherited in an autosomal dominant pattern. last updated: 6/6/2011 references national library of medicine. aniridia. genetics home reference. june 2009; http://ghr.nlm.nih.gov/condition/aniridia. accessed 3/30/2011. hingorani m, moore a. aniridia. genereviews. august 12, 2008; http://www.ncbi.nlm.nih.gov/books/nbk1360/. accessed 3/30/2011. gard video tutorials learn how to find information on treatment, research, specialists, and more. your questions answered view questions about this condition answered by gard information specialists. you can also submit a new question.

MalaCards based summary: Aniridia, also known as cataract with late-onset corneal dystrophy, is related to gynecomastia and hyperaldosteronism, 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 Regulation of beta-cell development. Affiliated tissues include eye, brain and kidney, and related mouse phenotypes are pigmentation and craniofacial.

Genetics Home Reference:23 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:49 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

UniProtKB/Swiss-Prot:67 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:68 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews summary for aniridia

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 8714)
idRelated DiseaseScoreTop Affiliating Genes
1gynecomastia30.7FOXE3, PAX6
2hyperaldosteronism30.6CYP1B1, FOXC1
3axenfeld-rieger syndrome, type 130.5PITX2, PITX3
4congenital nervous system abnormality30.5IGF2, WT1
5childhood leukemia30.4IGF2, WT1
6corneal dystrophy30.4CYP1B1, FOXE3, KRT12, PAX6, PITX2
7renovascular hypertension30.3CYP1B1, OTX2, PAX6
8aphakia, congenital primary30.3FOXE3, PITX3
9wilms tumor susceptibility-530.3IGF2, PAX6, WT1
10anterior segment mesenchymal dysgenesis30.2FOXC1, FOXE3, PITX3
11peters anomaly30.2CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3
12glaucoma 3a, primary open angle, congenital, juvenile, or adult onset30.2CYP1B1, FOXC1, PAX6
13waldenstrom macroglobulinemia30.0LGR4, LUZP2, PAX6, WT1
14clubfoot29.9KIR2DS4, PAX3, PAX6
15iron metabolism disease29.9ELP4, FOXC1, FOXE3, IGF2, PAX6, PITX2
16endometrial stromal nodule29.8IGF2, PAX6
17primary pigmented nodular adrenocortical disease29.8FOXC1, PAX6, PITX2
18primary familial brain calcification29.8CYP1B1, FOXC1
19axenfeld-rieger syndrome, type 329.6CYP1B1, FOXC1, LGR4, PAX6, PITX2
20essential pentosuria29.5CYP1B1, PITX2
21orbital granuloma29.5FOXC1, PAX6, PITX2
22acute contagious conjunctivitis29.4CYP1B1, FOXC1
23chronic cervicitis29.3IGF2, PAX6, WT1
24craniofacial-deafness-hand syndrome29.0KIR2DS4, PAX3
25leukemia10.9
26hepatitis10.9
27breast cancer10.9
28arthritis10.9
29prostatitis10.9
30aneurysm10.8
31adenocarcinoma10.8
32pancreatitis10.8
33thyroiditis10.8
34cerebritis10.8
35sarcoma10.8
36prostate cancer10.8
37neuronitis10.8
38adenoma10.8
39lung cancer10.8
40obesity10.7
41melanoma10.7
42cervicitis10.7
43rheumatoid arthritis10.7
44asthma10.7
45tuberculosis10.7
46myocardial infarction10.7
47schizophrenia10.7
48hiv-110.7
49influenza10.7
50esophagitis10.7

Graphical network of the top 20 diseases related to Aniridia:



Diseases related to aniridia

Symptoms for Aniridia

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Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

HPO human phenotypes related to Aniridia:

(show all 36)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 nystagmus hallmark (90%) HP:0000639
3 abnormality of the macula hallmark (90%) HP:0001103
4 aplasia/hypoplasia of the iris hallmark (90%) HP:0008053
5 glaucoma typical (50%) HP:0000501
6 cataract typical (50%) HP:0000518
7 opacification of the corneal stroma typical (50%) HP:0007759
8 strabismus typical (50%) HP:0000486
9 ptosis typical (50%) HP:0000508
10 blepharophimosis typical (50%) HP:0000581
11 photophobia typical (50%) HP:0000613
12 optic atrophy typical (50%) HP:0000648
13 ectopia lentis typical (50%) HP:0001083
14 keratoconjunctivitis sicca typical (50%) HP:0001097
15 abnormality of the macula typical (50%) HP:0001103
16 corneal erosion typical (50%) HP:0200020
17 abnormality of the genital system occasional (7.5%) HP:0000078
18 abnormality of the teeth occasional (7.5%) HP:0000164
19 sensorineural hearing impairment occasional (7.5%) HP:0000407
20 microcornea occasional (7.5%) HP:0000482
21 optic nerve coloboma occasional (7.5%) HP:0000588
22 abnormality of the hypothalamus-pituitary axis occasional (7.5%) HP:0000864
23 ocular albinism occasional (7.5%) HP:0001107
24 umbilical hernia occasional (7.5%) HP:0001537
25 abnormality of the sense of smell occasional (7.5%) HP:0004408
26 aplasia/hypoplasia of the corpus callosum occasional (7.5%) HP:0007370
27 cognitive impairment occasional (7.5%) HP:0100543
28 decreased corneal thickness occasional (7.5%) HP:0100689
29 autosomal dominant inheritance HP:0000006
30 glaucoma HP:0000501
31 cataract HP:0000518
32 aniridia HP:0000526
33 optic nerve hypoplasia HP:0000609
34 nystagmus HP:0000639
35 hypoplasia of the fovea HP:0007750
36 opacification of the corneal stroma HP:0007759

Drugs & Therapeutics for Aniridia

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Interventional clinical trials:

(show all 12)
idNameStatusNCT IDPhase
1Safety and Effectiveness of the CustomFlex Artificial Iris Prosthesis for the Treatment of Iris DefectsRecruitingNCT01860612Phase 3
2Study of Ataluren in Patients With AniridiaRecruitingNCT02647359Phase 2
3Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell DeficiencyActive, not recruitingNCT00845117Phase 1, Phase 2
4Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialNot yet recruitingNCT02318485Phase 2
5Morcher Artificial Iris Devices to Treat Light and Glare Sensitivity in Partial or Complete AniridiaActive, not recruitingNCT00812708Phase 1
6Correlation of Gene Abnormalities and Clinical Manifestations of AniridiaCompletedNCT00265590
7Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
8Positive Angle KappaCompletedNCT01644552
9Abnormalities of the Eye's Anterior Chamber, Iris, Cornea and LensCompletedNCT00001161
10Study of the Pathophysiological Mechanisms Involved in Bleeding EventsCompletedNCT01314560
11Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary AnomaliesRecruitingNCT00503893
12Rare Disease Patient Registry: Coordination of Rare Diseases at SanfordRecruitingNCT01793168

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 Aniridia22 PAX6
2 Congenital Aniridia24
3 Aniridia Ii, Formerly24
4 Cataract with Late-Onset Corneal Dystrophy24

Anatomical Context for Aniridia

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MalaCards organs/tissues related to Aniridia:

33
Eye, Brain, Kidney, Pituitary, Hypothalamus, Endothelial, Bone

Animal Models for Aniridia or affiliated genes

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MGI Mouse Phenotypes related to Aniridia:

38 (show all 18)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.2FOXC1, OTX2, PAX3, PAX6, PITX2, PITX3
2MP:00053829.1FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
3MP:00053678.3FOXC1, IGF2, LGR4, PAX3, PAX6, PDX1
4MP:00053888.3FOXC1, IGF2, OTX2, PAX3, PAX6, PITX2
5MP:00053808.3FOXC1, IGF2, LGR4, OTX2, PAX3, PAX6
6MP:00053698.3FOXC1, IGF2, OTX2, PAX3, PAX6, PDX1
7MP:00053708.1FOXC1, IGF2, LGR4, PAX3, PDX1, PITX2
8MP:00053818.1FOXC1, IGF2, LGR4, OTX2, PAX3, PAX6
9MP:00030128.0IGF2, KRT12, LGR4, PAX3, PDX1, PITX2
10MP:00053897.7FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
11MP:00053857.7FOXC1, FOXE3, IGF2, LGR4, NR2E1, OTX2
12MP:00028737.6FOXC1, KRT12, LUZP2, OTX2, PAX3, PAX4
13MP:00036317.4FOXC1, FOXE3, IGF2, LGR4, NR2E1, OTX2
14MP:00053846.9CAT, FOXC1, IGF2, LGR4, NR2E1, OTX2
15MP:00053916.9CYP1B1, FOXC1, FOXE3, IGF2, KRT12, LGR4
16MP:00053796.8FOXC1, IGF2, LGR4, OTX2, PAX3, PAX4
17MP:00053786.7FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX3
18MP:00053766.5CAT, CYP1B1, FOXC1, IGF2, LGR4, OTX2

Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 512)
idTitleAuthorsYear
1
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. (26451366)
2015
2
Variants in TRIM44 Cause Aniridia by Impairing PAX6 Expression. (26394807)
2015
3
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. (24848376)
2014
4
A review of the clinical and genetic aspects of aniridia. (24138039)
2013
5
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. (23793912)
2013
6
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. (24136034)
2013
7
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. (22815628)
2012
8
PAX6 analysis of two sporadic patients from southern China with classic aniridia. (22919266)
2012
9
Bilateral sporadic aniridia: review of management. (20957053)
2010
10
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
11
Genotype/phenotype association in Indian congenital aniridia. (19390808)
2009
12
Posttraumatic aniridia following phacoemulsification. (19491999)
2009
13
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)
2008
14
Chronic wound state exacerbated by oxidative stress in Pax6+/- aniridia-related keratopathy. (18491289)
2008
15
Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation. (17454233)
2007
16
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. (16803629)
2006
17
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. (16617299)
2006
18
Bilateral Duane syndrome and bilateral aniridia. (16814183)
2006
19
Developmental and cellular factors underlying corneal epithelial dysgenesis in the Pax6+/- mouse model of aniridia. (16080917)
2005
20
Aniridia (PAX6(+/-)). (15825752)
2005
21
Abnormal lens shape on CT in a patient with Aniridia. (14762425)
2004
22
Thinning of the anterior capsule associated with congenital aniridia. (12663018)
2003
23
Keratopathy in congenital aniridia. (17075635)
2003
24
Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. (11479730)
2001
25
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
26
Renal failure in the Denys-Drash and Wilms' tumor-aniridia syndromes. (10945603)
2000
27
Ten novel mutations found in Aniridia. (9792406)
1998
28
Aniridia: recent achievements in paediatric practice. (8529675)
1995
29
A new PAX6 mutation in familial aniridia. (7666404)
1995
30
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype. (7795596)
1995
31
Retinal detachment and giant retinal tears in aniridia. (7556730)
1995
32
Results of penetrating keratoplasty in aniridia. (8442490)
1993
33
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter. (7952360)
1993
34
Aniridia (20301534)
1993
35
PAX6 mutations in aniridia. (8364574)
1993
36
The results of glaucoma surgery in aniridia. (1562257)
1992
37
Rapid isolation of moderate and highly polymorphic DNA fragments mapping close to WT (Wilms' tumour) and AN2 (aniridia) on chromosome 11. (2564837)
1989
38
Specular microscopy in aniridia. (3581841)
1987
39
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. (6312329)
1983
40
Ataxia with aniridia of Gillespie: a case report. (7192834)
1981
41
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. (6273073)
1981
42
The treatment of glaucoma secondary aniridia. (6261125)
1981
43
Aniridia caused by a heritable chromosome 11 deletion. (230439)
1979
44
Aniridia, cataracts, and Wilms' tumor in monozygous twins. (209691)
1978
45
Progressive changes in the angle in congenital aniridia, with development of glaucoma. (4423758)
1974
46
Frequent occurrence of hypoplastic optic disks in patients with aniridia. (4362165)
1974
47
Progressive changes in the angle in congenital aniridia, with development of glaucoma. (4462243)
1974
48
Wilms' tumor and congenital aniridia. (4309913)
1969
49
Sporadic aniridia and Wilms' tumor. (4305152)
1969
50
Aniridia with microcornea. Report of a case. (13947900)
1962

Variations for Aniridia

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UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

67 (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_003816
8PAX6p.Ile29SerVAR_008694
9PAX6p.Ala33ProVAR_008695
10PAX6p.Ile42SerVAR_008697
11PAX6p.Ser43ProVAR_008698
12PAX6p.Val53LeuVAR_008699
13PAX6p.Thr63ProVAR_008701
14PAX6p.Ala79GluVAR_008703
15PAX6p.Ser119ArgVAR_008704
16PAX6p.Val126AspVAR_008705
17PAX6p.Arg208GlnVAR_008706
18PAX6p.Ser353AlaVAR_008707
19PAX6p.Gln422ArgVAR_008708
20PAX6p.Pro375GlnVAR_015066rs200015827
21PAX6p.Arg19ProVAR_047860
22PAX6p.Leu46ArgVAR_047861
23PAX6p.Cys52ArgVAR_047862
24PAX6p.Ile56ThrVAR_047863
25PAX6p.Gly73AspVAR_047864
26PAX6p.Ile87LysVAR_047865
27PAX6p.Arg242ThrVAR_047866
28PAX6p.Gly395ArgVAR_067698

Clinvar genetic disease variations for Aniridia:

5 (show all 18)
id Gene Variation Type Significance SNP ID Assembly Location
1ELP4NM_019040.4(ELP4): c.1143+14176C> Asingle nucleotide variantPathogenicrs606231388GRCh38Chr 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
4PAX6PAX6, 2-BP INSinsertionPathogenic
5PAX6PAX6, EXON G DELdeletionPathogenic
6PAX6NM_000280.4(PAX6): c.406C> T (p.Gln136Ter)single nucleotide variantPathogenicrs121907912GRCh37Chr 11, 31822356: 31822356
7PAX6NM_000280.4(PAX6): c.76C> G (p.Arg26Gly)single nucleotide variantPathogenicrs121907913GRCh37Chr 11, 31824317: 31824317
8PAX6NM_000280.4(PAX6): c.307C> T (p.Arg103Ter)single nucleotide variantPathogenicrs121907914GRCh37Chr 11, 31823159: 31823159
9PAX6PAX6, IVS12DS, G-C, -1single nucleotide variantPathogenic
10PAX6NM_000280.4(PAX6): c.607C> T (p.Arg203Ter)single nucleotide variantPathogenicrs121907916GRCh37Chr 11, 31816253: 31816253
11PAX6NM_000280.4(PAX6): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121907917GRCh37Chr 11, 31815627: 31815627
12PAX6NM_001604.5(PAX6): c.1075-2A> Gsingle nucleotide variantPathogenicrs794726661GRCh38Chr 11, 31790862: 31790862
13PAX6NM_000280.4(PAX6): c.1268A> T (p.Ter423Leu)single nucleotide variantPathogenicrs121907922GRCh37Chr 11, 31811483: 31811483
14PAX6NM_000280.4(PAX6): c.725G> C (p.Arg242Thr)single nucleotide variantPathogenicrs121907927GRCh37Chr 11, 31815620: 31815620
15PAX6NM_000280.4(PAX6): c.357C> A (p.Ser119Arg)single nucleotide variantPathogenicrs121907928GRCh37Chr 11, 31823109: 31823109
16PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281
17PAX6NM_000280.4(PAX6): c.357+1G> Asingle nucleotide variantPathogenicrs398123295GRCh37Chr 11, 31823108: 31823108
18PAX6NM_000280.4(PAX6): c.46delG (p.Val16Serfs)deletionPathogenicrs398123296GRCh37Chr 11, 31824347: 31824347

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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GO Terms for genes affiliated with Aniridia

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

(show all 31)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.8FOXC1, PAX6
2negative regulation of neural precursor cell proliferationGO:200017810.7NR2E1, PAX6
3iris morphogenesisGO:006107210.6FOXE3, PAX6, PITX2
4trabecular meshwork developmentGO:000293010.5CYP1B1, FOXE3
5type B pancreatic cell differentiationGO:000330910.5PAX6, PDX1
6exocrine pancreas developmentGO:003101710.4IGF2, PDX1
7eye developmentGO:000165410.4FOXC1, FOXE3, PAX6
8cornea development in camera-type eyeGO:006130310.4FOXE3, KRT12, PAX6
9lens development in camera-type eyeGO:000208810.3FOXE3, PAX6, PITX3
10ureteric bud developmentGO:000165710.3CAT, FOXC1, WT1
11cell fate commitmentGO:004516510.3NR2E1, OTX2, PAX6
12male genitalia developmentGO:003053910.2LGR4, WT1
13response to fatty acidGO:007054210.2CAT, PDX1
14response to vitamin AGO:003318910.2CAT, PITX2
15kidney developmentGO:000182210.2CAT, FOXC1, WT1
16retina development in camera-type eyeGO:006004110.1NR2E1, PAX4, PAX6
17neuron fate commitmentGO:004866310.0OTX2, PAX3, PAX6
18brain developmentGO:00074209.7FOXC1, NR2E1, PAX6, PITX2
19central nervous system developmentGO:00074179.7OTX2, PAX6, PDX1
20camera-type eye developmentGO:00430109.6FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
21visual perceptionGO:00076019.5CYP1B1, KRT12, NR2E1, PAX6
22negative regulation of apoptotic processGO:00430669.4CAT, FOXE3, NR2E1, PAX4, WT1
23regulation of gene expressionGO:00104689.4PAX6, PDX1, PITX3, WT1
24cell differentiationGO:00301549.0FOXC1, FOXE3, OTX2, PAX4, PAX6, PDX1
25regulation of transcription from RNA polymerase II promoterGO:00063578.8ELP4, FOXE3, OTX2, PAX6, PDX1, PITX2
26organ morphogenesisGO:00098878.4IGF2, OTX2, PAX3, PAX4, PAX6, PDX1
27positive regulation of transcription, DNA-templatedGO:00458938.1FOXC1, LGR4, OTX2, PAX3, PAX6, PDX1
28negative regulation of transcription from RNA polymerase II promoterGO:00001228.0NR2E1, PAX3, PAX4, PAX6, PDX1, PITX2
29positive regulation of transcription from RNA polymerase II promoterGO:00459447.3FOXC1, IGF2, NR2E1, OTX2, PAX3, PAX6
30transcription from RNA polymerase II promoterGO:00063667.0FOXC1, FOXE3, NR2E1, OTX2, PAX3, PAX6
31regulation of transcription, DNA-templatedGO:00063556.6FOXC1, FOXE3, IGF2, NR2E1, OTX2, PAX3

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1HMG box domain bindingGO:007183710.3PAX3, PAX6
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.6FOXC1, PAX3, PDX1
3transcription factor bindingGO:00081349.5FOXC1, PAX6, PDX1, PITX2
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4NR2E1, OTX2, PAX6, PITX2, PITX3, WT1
5RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.4OTX2, PAX6, PDX1, PITX2, PITX3
6DNA bindingGO:00036777.1FOXC1, FOXE3, NR2E1, OTX2, PAX3, PAX4
7transcription factor activity, sequence-specific DNA bindingGO:00037007.0FOXC1, FOXE3, NR2E1, OTX2, PAX3, PAX6
8sequence-specific DNA bindingGO:00435657.0FOXC1, FOXE3, NR2E1, OTX2, PAX3, PAX4

Sources for Aniridia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet