MCID: ANR002
MIFTS: 62

Aniridia malady

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

Aliases & Classifications for Aniridia

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Aliases & Descriptions for Aniridia:

Name: Aniridia 50 11 22 46 23 24 13 68 25 12 48 37
Cataract with Late-Onset Corneal Dystrophy 50 25
Congenital Aniridia 24 25
Isolated Aniridia 52
Aniridia Type Ii 68
 
Aplasia of Iris 11
Absent Iris 24
Irideremia 24
An2 68
an 68

Characteristics:

Orphanet epidemiological data:

52
isolated aniridia:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood

HPO:

62
aniridia:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 106210
Disease Ontology11 DOID:12271
ICD1028 Q13.1
ICD9CM30 743.45
MeSH37 D015783
SNOMED-CT60 204161008, 69278003
NCIt43 C84563
Orphanet52 ORPHA250923
ICD10 via Orphanet29 Q13.1
MedGen35 C0003076

Summaries for Aniridia

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NIH Rare Diseases:46 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

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 are Regulation of beta-cell development and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, brain and kidney, and related mouse phenotypes are pigmentation and respiratory system.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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:50 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

Wikipedia:69 Aniridia is the absence of the iris, usually involving both eyes. It can be congenital or caused by a... more...

GeneReviews summary 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 117)
idRelated DiseaseScoreTop Affiliating Genes
1anterior segment mesenchymal dysgenesis30.7FOXC1, FOXE3, PITX3
2peters anomaly29.9CYP1B1, FOXC1, FOXE3, PAX6, PITX2, PITX3
3hair-an syndrome12.1
4systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease12.0
5isolated aniridia12.0
6aniridia and absent patella12.0
7aniridia - ptosis - intellectual disability - familial obesity11.9
8aniridia renal agenesis psychomotor retardation11.9
9aniridia, partial, with unilateral renal agenesis and psychomotor retardation11.9
10gillespie syndrome11.9
11wagr syndrome11.9
12hemophagocytic syndrome associated with an infection11.9
13silver-russell syndrome due to an imprinting defect of 11p1511.9
14polydactyly of an index finger, unilateral11.9
15polydactyly of an index finger, bilateral11.9
16acute lymphoblastic leukemia congenital sporadic aniridia11.8
17wilms tumor-aniridia-genital anomalies-retardation syndrome11.8
18aniridia-intellectual disability syndrome11.8
19acanthosis nigricans11.5
20encephalopathy, acute, infection-induced, 411.2
21alopecia, neurologic defects, and endocrinopathy syndrome11.1
22polydactyly, preaxial iii11.0
23wagro syndrome10.8
24walker dyson syndrome10.8
25zazam sheriff phillips syndrome10.8
26bile duct cystadenocarcinoma10.8
27morel's ear10.8
28ataxia neuropathy spectrum10.8
29immunodeficiency due to a classical component pathway complement deficiency10.8
30aphakia, congenital primary10.7FOXE3, PITX3
31isolated growth hormone deficiency, type ib, gh1-related10.6FOXC1, PAX6, PITX2
32iridogoniodysgenesis, type 210.6PITX2, PITX3
33leukemia10.6
34adrenal cortical hypofunction10.6FOXC1, PAX6, PITX2
35hepatitis10.6
36breast cancer10.6
37ring dermoid of cornea10.6FOXC1, PITX2
38wrinkles10.6LUZP2, PAX6, WT1
39combined oxidative phosphorylation deficiency10.6FOXC1, PAX6, PITX2
40chronic tympanitis10.6CYP1B1, FOXC1, PITX2
41aneurysm10.6
42renal, genital, and middle ear anomalies10.6OTX2, PAX6
43anorectal stricture10.5FOXE3, PAX6, PITX3
44aortitis10.5IGF2, PAX6, WT1
45megacolon10.5FOXE3, OTX2, PAX6
46epileptic encephalopathy, early infantile, 3110.5PAX6, WT1
47familial hyperaldosteronism10.5CYP1B1, PITX2
48cataract10.5
49lactocele10.4CYP1B1, FOXC1, PAX6, PITX2
50primary trimethylaminuria10.4CYP1B1, FOXC1

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

Symptoms:

 52 (show all 7)
  • glaucoma
  • cataract
  • aniridia
  • visual loss
  • nystagmus
  • peters anomaly
  • aplasia/hypoplasia of the macula

HPO human phenotypes related to Aniridia:

(show all 35)
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 glaucoma HP:0000501
30 cataract HP:0000518
31 aniridia HP:0000526
32 optic nerve hypoplasia HP:0000609
33 nystagmus HP:0000639
34 hypoplasia of the fovea HP:0007750
35 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
3Limbal Epithelial Stem Cell Transplantation: a Phase II Multicenter TrialRecruitingNCT02318485Phase 2
4Cultivated Stem Cell Transplantation for the Treatment of Limbal Stem Cell DeficiencyActive, not recruitingNCT00845117Phase 1, Phase 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
7Positive Angle KappaCompletedNCT01644552
8Characterization of WAGR Syndrome and Other Chromosome 11 Gene DeletionsCompletedNCT00758108
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 & Natural History Study - 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 Congenital Aniridia25
2 Cataract with Late-Onset Corneal Dystrophy25
3 Aniridia25 23 PAX6

Anatomical Context for Aniridia

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MalaCards organs/tissues related to Aniridia:

34
Eye, Brain, Kidney, Pituitary, Hypothalamus, Endothelial, Bone

Animal Models for Aniridia or affiliated genes

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MGI Mouse Phenotypes related to Aniridia:

39 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.4FOXC1, OTX2, PAX6, PITX2, PITX3, TYR
2MP:00053889.3FOXC1, IGF2, OTX2, PAX6, PITX2, PITX3
3MP:00053709.1FOXC1, IGF2, LGR4, PDX1, PITX2, PITX3
4MP:00053699.1FOXC1, IGF2, OTX2, PAX6, PDX1, PITX2
5MP:00053818.9FOXC1, IGF2, LGR4, OTX2, PAX6, PDX1
6MP:00053808.7FOXC1, IGF2, LGR4, OTX2, PAX6, PITX2
7MP:00053678.4FOXC1, IGF2, LGR4, PAX6, PDX1, TYR
8MP:00030128.3IGF2, KRT12, LGR4, PDX1, PITX2, PITX3
9MP:00053898.2FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
10MP:00053858.0FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX6
11MP:00028737.8FOXC1, KRT12, LUZP2, OTX2, PAX4, PAX6
12MP:00053847.6CAT, FOXC1, IGF2, LGR4, NR2E1, OTX2
13MP:00053797.5FOXC1, IGF2, LGR4, OTX2, PAX4, PAX6
14MP:00053917.5CYP1B1, FOXC1, IGF2, KRT12, LGR4, NR2E1
15MP:00053766.9CAT, CYP1B1, FOXC1, IGF2, LGR4, OTX2
16MP:00053786.8FOXC1, IGF2, LGR4, NR2E1, OTX2, PAX4

Publications for Aniridia

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Articles related to Aniridia:

(show top 50)    (show all 537)
idTitleAuthorsYear
1
The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome. (27109391)
2016
2
Genotype-phenotype correlation of PAX6 gene mutations in aniridia. (27081561)
2016
3
Management of aniridia and iris defects: an update on iris prosthesis options. (26871656)
2016
4
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. (26451366)
2015
5
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. (24848376)
2014
6
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. (24519938)
2014
7
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. (23793912)
2013
8
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. (24136034)
2013
9
Black diaphragm intraocular lens implantation and penetrating keratoplasty in aphakic eyes with traumatic aniridia. (23638421)
2013
10
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia. (24290376)
2013
11
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. (22815628)
2012
12
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. (22393275)
2012
13
A new technique for treating posttraumatic aniridia with aphakia: first results of haptic fixation of a foldable intraocular lens on a foldable and custom-tailored iris prosthesis. (22801839)
2012
14
Descemet-stripping automated endothelial keratoplasty for vitrectomized cases with traumatic aniridia and aphakic bullous keratopathy. (23055672)
2012
15
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
16
Traumatic aniridia and self-sealed globe rupture following blunt trauma. (20523360)
2010
17
Genotype/phenotype association in Indian congenital aniridia. (19390808)
2009
18
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)
2008
19
Transscleral sulcus fixation of a small-diameter iris-diaphragm intraocular lens in combined penetrating keratoplasty and cataract extraction for correction of traumatic cataract, aniridia, and corneal scarring. (19027578)
2008
20
Three novel mutations of the PAX6 gene in Japanese aniridia patients. (17568989)
2007
21
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. (16803629)
2006
22
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. (16617299)
2006
23
Traumatic aniridia in a pseudophakic eye. (16565019)
2006
24
Mucous plaque keratitis associated with aniridia keratopathy. (15375363)
2005
25
Abnormal lens shape on CT in a patient with Aniridia. (14762425)
2004
26
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
27
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
28
Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up. (10713232)
2000
29
A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. (10604054)
1999
30
Ten novel mutations found in Aniridia. (9792406)
1998
31
Aniridia: recent achievements in paediatric practice. (8529675)
1995
32
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. (7914031)
1994
33
Aniridia (20301534)
1993
34
PAX6 mutations in aniridia. (8364574)
1993
35
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. (8281171)
1993
36
The results of glaucoma surgery in aniridia. (1562257)
1992
37
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). (2347591)
1990
38
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
39
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome. (3266265)
1988
40
Specular microscopy in aniridia. (3581841)
1987
41
High resolution G-banding analysis in aniridia. (2830569)
1987
42
The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. (6312329)
1983
43
Ataxia with aniridia of Gillespie: a case report. (7192834)
1981
44
Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. (6273073)
1981
45
Aniridia, cataracts, and Wilms tumor. (212955)
1978
46
Computer-assisted analysis of chromosomal abnormalities: detection of a deletion in aniridia-Wilms' tumor syndrome. (4367262)
1974
47
Wilms' tumor and congenital aniridia. (4309913)
1969
48
Sporadic aniridia and Wilms' tumor. (4305152)
1969
49
Wilms' tumor and congenital aniridia. (4300348)
1968
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:

68 (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 20)
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
9PAX6NG_008679.1: g.32252G> Csingle nucleotide variantPathogenicGRCh38Chr 11, 31790710: 31790860
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.-129+2T> Asingle nucleotide variantPathogenicrs878852979GRCh38Chr 11, 31810826: 31810826
17PAX6NM_000280.4(PAX6): c.771G> A (p.Trp257Ter)single nucleotide variantPathogenicrs121907929GRCh37Chr 11, 31815345: 31815345
18PAX6NM_000280.4(PAX6): c.112C> T (p.Arg38Trp)single nucleotide variantPathogenicrs397514640GRCh37Chr 11, 31824281: 31824281
19PAX6NM_000280.4(PAX6): c.357+1G> Asingle nucleotide variantPathogenicrs398123295GRCh37Chr 11, 31823108: 31823108
20PAX6NM_000280.4(PAX6): c.46delG (p.Val16Serfs)deletionPathogenicrs398123296GRCh37Chr 11, 31824347: 31824347

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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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:003280810.9FOXC1, PAX6
2cornea development in camera-type eyeGO:006130310.8FOXE3, PAX6
3negative regulation of neural precursor cell proliferationGO:200017810.7NR2E1, PAX6
4type B pancreatic cell differentiationGO:000330910.6PAX6, PDX1
5iris morphogenesisGO:006107210.6FOXE3, PAX6, PITX2
6trabecular meshwork developmentGO:000293010.5CYP1B1, FOXE3
7eye developmentGO:000165410.5FOXC1, FOXE3, PAX6
8male genitalia developmentGO:003053910.4LGR4, WT1
9kidney developmentGO:000182210.3CAT, FOXC1, WT1
10ureteric bud developmentGO:000165710.2CAT, FOXC1, WT1
11lens development in camera-type eyeGO:000208810.2FOXE3, PAX6, PITX3
12response to vitamin AGO:003318910.2CAT, PITX2
13camera-type eye developmentGO:00430109.7FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
14brain developmentGO:00074209.7FOXC1, NR2E1, PAX6, PITX2
15retina development in camera-type eyeGO:00600419.7NR2E1, PAX4, PAX6
16animal organ morphogenesisGO:00098879.5PAX4, PAX6, PDX1, PITX2, PITX3
17regulation of transcription from RNA polymerase II promoterGO:00063579.5ELP4, FOXE3, PAX6, PDX1, PITX2, WT1
18negative regulation of apoptotic processGO:00430669.3CAT, FOXE3, NR2E1, PAX4, WT1
19visual perceptionGO:00076018.9CYP1B1, KRT12, NR2E1, PAX6, TYR
20transcription from RNA polymerase II promoterGO:00063668.8FOXC1, FOXE3, OTX2, PAX6, PDX1, PITX2
21positive regulation of transcription, DNA-templatedGO:00458938.7FOXC1, LGR4, OTX2, PAX6, PDX1, PITX2
22positive regulation of transcription from RNA polymerase II promoterGO:00459448.2FOXC1, NR2E1, OTX2, PAX6, PDX1, PITX2

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:000098110.1FOXC1, FOXE3, PAX6, PITX2
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009789.4OTX2, PAX6, PDX1, PITX2, PITX3
3transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010779.4NR2E1, OTX2, PAX6, PITX2, PITX3, WT1
4transcription factor bindingGO:00081349.2FOXC1, PAX6, PDX1, PITX2
5transcription factor activity, sequence-specific DNA bindingGO:00037009.2FOXC1, FOXE3, PAX6, PDX1, PITX2, WT1
6sequence-specific DNA bindingGO:00435658.8FOXC1, FOXE3, NR2E1, PAX6, PDX1, PITX2

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2CDC
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25GTR
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