MCID: ANR002
MIFTS: 60

Aniridia malady

Categories: Genetic diseases, Rare diseases, Eye diseases

Aliases & Classifications for Aniridia

About this section

Aliases & Descriptions for Aniridia:

Name: Aniridia 51 11 23 47 24 25 69 26 12 49 38 13
Cataract with Late-Onset Corneal Dystrophy 51 26
Congenital Aniridia 25 26
Aniridia Type Ii 69
Aniridia Type 2 67
 
Aplasia of Iris 11
Absent Iris 25
Irideremia 25
An2 69
an 69

Characteristics:

HPO:

63
aniridia:
Inheritance: autosomal dominant inheritance

GeneReviews:

23
Penetrance: penetrance is 100%...


Classifications:



External Ids:

OMIM51 106210
Disease Ontology11 DOID:12271
ICD1029 Q13.1
ICD9CM31 743.45
SNOMED-CT61 204161008, 69278003
MeSH38 D015783
NCIt44 C84563
MedGen36 C0003076

Summaries for Aniridia

About this section
NIH Rare Diseases:47 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:51 Although called aniridia, this disorder is a panocular one taking its name from the noticeable iris hypoplasia seen in... (106210) more...

UniProtKB/Swiss-Prot:69 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:70 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

About this section

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 for Aniridia

About this section

Symptoms by clinical synopsis from OMIM:

106210

Clinical features from OMIM:

106210

Human phenotypes related to Aniridia:

 63 (show all 30)
id Description HPO Frequency HPO Source Accession
1 visual impairment63 hallmark (90%) HP:0000505
2 nystagmus63 hallmark (90%) HP:0000639
3 abnormality of the macula63 hallmark (90%) HP:0001103
4 aplasia/hypoplasia of the iris63 hallmark (90%) HP:0008053
5 glaucoma63 typical (50%) HP:0000501
6 cataract63 typical (50%) HP:0000518
7 opacification of the corneal stroma63 typical (50%) HP:0007759
8 strabismus63 typical (50%) HP:0000486
9 ptosis63 typical (50%) HP:0000508
10 blepharophimosis63 typical (50%) HP:0000581
11 photophobia63 typical (50%) HP:0000613
12 optic atrophy63 typical (50%) HP:0000648
13 ectopia lentis63 typical (50%) HP:0001083
14 keratoconjunctivitis sicca63 typical (50%) HP:0001097
15 corneal erosion63 typical (50%) HP:0200020
16 abnormality of the genital system63 occasional (7.5%) HP:0000078
17 abnormality of the teeth63 occasional (7.5%) HP:0000164
18 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
19 microcornea63 occasional (7.5%) HP:0000482
20 optic nerve coloboma63 occasional (7.5%) HP:0000588
21 abnormality of the hypothalamus-pituitary axis63 occasional (7.5%) HP:0000864
22 ocular albinism63 occasional (7.5%) HP:0001107
23 umbilical hernia63 occasional (7.5%) HP:0001537
24 abnormality of the sense of smell63 occasional (7.5%) HP:0004408
25 aplasia/hypoplasia of the corpus callosum63 occasional (7.5%) HP:0007370
26 cognitive impairment63 occasional (7.5%) HP:0100543
27 decreased corneal thickness63 occasional (7.5%) HP:0100689
28 aniridia63 HP:0000526
29 optic nerve hypoplasia63 HP:0000609
30 hypoplasia of the fovea63 HP:0007750

Drugs & Therapeutics for Aniridia

About this section

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

About this section

Genetic tests related to Aniridia:

id Genetic test Affiliating Genes
1 Cataract with Late-Onset Corneal Dystrophy26
2 Aniridia26 24 PAX6
3 Congenital Aniridia26

Anatomical Context for Aniridia

About this section

MalaCards organs/tissues related to Aniridia:

35
Eye, Kidney, Pituitary, Hypothalamus, Endothelial, Brain, Bone

Animal Models for Aniridia or affiliated genes

About this section

MGI Mouse Phenotypes related to Aniridia:

40 (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

Publications for Aniridia

About this section

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
Cultivated Oral Mucosa Epithelium in Ocular Surface Reconstruction in Aniridia Patients. (26451366)
2015
6
Successful surgical repair of a massive window duct in a 1-month old with aniridia and pulmonary interstitial glycogenosis. (24848376)
2014
7
LGR4/GPR48 inactivation leads to aniridia-genitourinary anomalies-mental retardation syndrome defects. (24519938)
2014
8
Simultaneous correction of post-traumatic aphakia and aniridia with the use of artificial iris and IOL implantation. (23793912)
2013
9
Intraocular pressure control with Ahmed glaucoma drainage device in patients with cicatricial ocular surface disease-associated or aniridia-related glaucoma. (24136034)
2013
10
Black diaphragm intraocular lens implantation and penetrating keratoplasty in aphakic eyes with traumatic aniridia. (23638421)
2013
11
Disruption of Autoregulatory Feedback by a Mutation in a Remote, Ultraconserved PAX6 Enhancer Causes Aniridia. (24290376)
2013
12
Mutation analysis of PAX6 in inherited and sporadic aniridia from northeastern China. (22815628)
2012
13
Molecular analysis of the PAX6 gene for congenital aniridia in the Korean population: identification of four novel mutations. (22393275)
2012
14
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
15
Descemet-stripping automated endothelial keratoplasty for vitrectomized cases with traumatic aniridia and aphakic bullous keratopathy. (23055672)
2012
16
Aniridia associated with aphakia and secondary glaucoma. (21052919)
2010
17
Traumatic aniridia and self-sealed globe rupture following blunt trauma. (20523360)
2010
18
Genotype/phenotype association in Indian congenital aniridia. (19390808)
2009
19
Heterozygous FOXC1 mutation (M161K) associated with congenital glaucoma and aniridia in an infant and a milder phenotype in her mother. (18484311)
2008
20
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
21
Three novel mutations of the PAX6 gene in Japanese aniridia patients. (17568989)
2007
22
Identification of novel mutant PAX6 alleles in Indian cases of familial aniridia. (16803629)
2006
23
PAX6 gene intragenic deletions in Mexican patients with congenital aniridia. (16617299)
2006
24
Traumatic aniridia in a pseudophakic eye. (16565019)
2006
25
Mucous plaque keratitis associated with aniridia keratopathy. (15375363)
2005
26
Abnormal lens shape on CT in a patient with Aniridia. (14762425)
2004
27
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
28
Two cases of aniridia in Llanwenog sheep. (11083048)
2000
29
Black diaphragm aniridia intraocular lens for congenital aniridia: long-term follow-up. (10713232)
2000
30
A novel PAX6 frameshift mutation in a kindred from Atlantic Canada with familial aniridia. (10604054)
1999
31
Ten novel mutations found in Aniridia. (9792406)
1998
32
Aniridia: recent achievements in paediatric practice. (8529675)
1995
33
Homology of the eyeless gene of Drosophila to the Small eye gene in mice and Aniridia in humans. (7914031)
1994
34
Aniridia (20301534)
1993
35
PAX6 mutations in aniridia. (8364574)
1993
36
Dinucleotide repeat polymorphism in the human aniridia (PAX6) gene. (8281171)
1993
37
The results of glaucoma surgery in aniridia. (1562257)
1992
38
Location of the gene involving the small eye mutation on mouse chromosome 2 suggests homology with human aniridia 2 (AN2). (2347591)
1990
39
Translocation t(5;11)(q13.1;p13) associated with familial isolated aniridia. (2817003)
1989
40
Aniridia, ectopia lentis, abnormal upper incisors and mental retardation--an autosomal recessive syndrome. (3266265)
1988
41
Specular microscopy in aniridia. (3581841)
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

About this section

UniProtKB/Swiss-Prot genetic disease variations for Aniridia:

69 (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

About this section
Search GEO for disease gene expression data for Aniridia.

Pathways for genes affiliated with Aniridia

About this section

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

About this section

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

(show all 22)
idNameGO IDScoreTop Affiliating Genes
1lacrimal gland developmentGO:003280810.7FOXC1, PAX6
2cornea development in camera-type eyeGO:006130310.7FOXE3, PAX6
3negative regulation of neural precursor cell proliferationGO:200017810.5NR2E1, PAX6
4iris morphogenesisGO:006107210.4FOXE3, PAX6, PITX2
5eye developmentGO:000165410.3FOXC1, FOXE3, PAX6
6trabecular meshwork developmentGO:000293010.3CYP1B1, FOXE3
7kidney developmentGO:000182210.1CAT, FOXC1, WT1
8ureteric bud developmentGO:000165710.1CAT, FOXC1, WT1
9lens development in camera-type eyeGO:000208810.0FOXE3, PAX6, PITX3
10dopaminergic neuron differentiationGO:00715429.9OTX2, PITX3
11response to vitamin AGO:00331899.9CAT, PITX2
12male genitalia developmentGO:00305399.9LGR4, WT1
13regulation of transcription from RNA polymerase II promoterGO:00063579.5ELP4, FOXE3, PAX6, PITX2, WT1
14animal organ morphogenesisGO:00098879.5PAX4, PAX6, PITX2, PITX3
15retina development in camera-type eyeGO:00600419.5NR2E1, PAX4, PAX6
16camera-type eye developmentGO:00430109.3FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
17brain developmentGO:00074209.2FOXC1, NR2E1, PAX6, PITX2
18visual perceptionGO:00076019.1CYP1B1, KRT12, NR2E1, PAX6
19negative regulation of apoptotic processGO:00430668.7CAT, FOXE3, NR2E1, PAX4, WT1
20transcription from RNA polymerase II promoterGO:00063668.7FOXC1, FOXE3, OTX2, PAX6, PITX2, PITX3
21positive regulation of transcription from RNA polymerase II promoterGO:00459448.2FOXC1, NR2E1, OTX2, PAX6, PITX2, PITX3
22positive regulation of transcription, DNA-templatedGO:00458938.1FOXC1, 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:00009819.5FOXC1, FOXE3, PAX6, PITX2
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.8OTX2, PAX6, PITX2, PITX3
3sequence-specific DNA bindingGO:00435658.8FOXC1, FOXE3, NR2E1, PAX6, PITX2, WT1
4transcriptional activator activity, RNA polymerase II core promoter proximal region sequence-specific bindingGO:00010778.8NR2E1, OTX2, PAX6, PITX2, PITX3, WT1

Sources for Aniridia

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet