ASMD
MCID: ANT088
MIFTS: 49

Anterior Segment Dysgenesis (ASMD)

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

Aliases & Classifications for Anterior Segment Dysgenesis

MalaCards integrated aliases for Anterior Segment Dysgenesis:

Name: Anterior Segment Dysgenesis 12 52 58 36 29 6
Anterior Segment Developmental Anomaly 12 52 58
Anterior Segment Mesenchymal Dysgenesis 52 71
Familial Ocular Anterior Segment Mesenchymal Dysgenesis 52
Corneal Opacification and Other Ocular Anomalies 12
Sclerocornea with Other Ocular Anomalies 12
Anterior Segment Ocular Dysgenesis 52
Axenfeld-Rieger Syndrome, Type 3 71
Foxe3-Related Ocular Disorder 52
Dysgenesis, Anterior Segment 39
Irido-Corneal Dysgenesis 71
Asmd 52
Asod 52

Characteristics:

Orphanet epidemiological data:

58
anterior segment developmental anomaly
Inheritance: Autosomal dominant;

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Anterior Segment Dysgenesis

NIH Rare Diseases : 52 Anterior segment dysgenesis (ASD) refers to a spectrum of disorders that affect the development of the front of the eye (the anterior segment), which includes the cornea , iris , ciliary body , and lens . The specific eye abnormalities (alone or in combination) vary depending on the subtype of ASD and genetic cause, and some types may also be associated with neurological abnormalities. Glaucoma develops in approximately 60% of people with ASD, during infancy or much later. Specific eye signs and symptoms of ASD may include: Underdevelopment of the iris (iris hypoplasia). An enlarged or reduced cornea diameter. Growth of new blood vessels (vascularization) and opacity in the cornea. Posterior embryotoxon (a thickened and displaced Schwalbe's line). Corectopia (displacement of the pupil). Polycoria (more than one pupillary opening). An abnormal iridocorneal angle (the angle formed by the iris and cornea). Ectopia lentis (displacement of the lens). Aphakia (absent lens). Cataracts . Anterior synechiae (when the iris adheres to the cornea). Posterior keratoconus (thinning of the cornea). Individual disorders within the ASD spectrum include Axenfeld-Rieger syndrome (which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome , Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis) and Peters anomaly . ASD may be caused by mutations in any of several genes and inheritance can be autosomal dominant or autosomal recessive , depending on the responsible gene . Treatment of signs and symptoms depends on the specific features in each person with ASD and may involve medications, eye surgery, or corrective lenses for poor vision.

MalaCards based summary : Anterior Segment Dysgenesis, also known as anterior segment developmental anomaly, is related to anterior segment dysgenesis 5 and anterior segment dysgenesis 2. An important gene associated with Anterior Segment Dysgenesis is FOXE3 (Forkhead Box E3). The drug Pharmaceutical Solutions has been mentioned in the context of this disorder. Affiliated tissues include anterior segment of the eye, eye and endothelial, and related phenotypes are visual impairment and aplasia/hypoplasia of the iris

Disease Ontology : 12 An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located in the anterior segment of the eye.

KEGG : 36 Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest derived mesenchymal cells that give rise to the cornea, iris, and other components of the anterior chamber during eye development. Human ASGD phenotypes are genetically heterogeneous resulting from mutations in different transcription factor genes and a cytochrome enzyme gene. ASGD is sometimes divided into subtypes including aniridia, Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon.

Related Diseases for Anterior Segment Dysgenesis

Diseases in the Anterior Segment Dysgenesis family:

Anterior Segment Dysgenesis 1 Anterior Segment Dysgenesis 4
Anterior Segment Dysgenesis 7 Anterior Segment Dysgenesis 3
Anterior Segment Dysgenesis 5 Anterior Segment Dysgenesis 2
Anterior Segment Dysgenesis 6 Anterior Segment Dysgenesis 8

Diseases related to Anterior Segment Dysgenesis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 143)
# Related Disease Score Top Affiliating Genes
1 anterior segment dysgenesis 5 35.0 PAX6 CYP1B1
2 anterior segment dysgenesis 2 34.8 PITX3 FOXE3
3 anterior segment dysgenesis 4 34.4 PITX2 FOXC1
4 microphthalmia 31.3 PXDN PITX3 PITX2 PAX6 HMX1 FOXE3
5 early-onset glaucoma 30.7 PITX2 CYP1B1
6 intraocular pressure quantitative trait locus 30.7 PITX2 PAX6 FOXC1 CYP1B1
7 isolated aniridia 30.5 PAX6 FOXC1
8 sclerocornea 30.4 PITX2 PAX6 FOXE3 FOXC1
9 optic nerve hypoplasia, bilateral 30.4 PAX6 COL4A1
10 axenfeld-rieger syndrome, type 3 30.1 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
11 colobomatous microphthalmia 30.1 PITX3 PITX2 PAX6
12 primary congenital glaucoma 30.0 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
13 corneal edema 30.0 VSX1 TGFBI CYP1B1
14 persistent hyperplastic primary vitreous 30.0 PITX2 PAX6 FOXE3 FOXC1
15 axenfeld-rieger syndrome, type 1 29.8 PITX3 PITX2 PAX6 FOXE3 FOXC1
16 aniridia 1 29.7 SLC38A8 PITX3 PITX2 PAX6 FOXE3 FOXC1
17 juvenile glaucoma 29.7 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
18 corneal disease 29.5 VSX1 TGFBI PAX6 FOXE3 FOXC1
19 glaucoma 3, primary congenital, a 29.4 PXDN PITX2 PAX6 FOXE3 FOXC1 CYP1B1
20 peters-plus syndrome 29.3 PXDN PITX3 PITX2 PAX6 FOXE3 FOXC1
21 eye disease 29.3 TGFBI PITX2 PAX6 FOXC1 CYP1B1
22 axenfeld-rieger syndrome 29.2 PITX3 PITX2 PAX6 FOXE3 FOXC1 CYP1B1
23 coloboma of macula 29.0 VSX1 PITX3 PITX2 PAX6 MAF FOXE3
24 cataract 29.0 PXDN PITX3 PITX2 PAX6 MAF FOXE3
25 anterior segment dysgenesis 6 13.0
26 anterior segment dysgenesis 1 13.0
27 anterior segment dysgenesis 3 13.0
28 anterior segment dysgenesis 7 13.0
29 anterior segment dysgenesis 8 12.9
30 craniofacial anomalies and anterior segment dysgenesis syndrome 12.8
31 brachydactyly, coloboma, and anterior segment dysgenesis 12.6
32 foveal hypoplasia 2 12.6
33 anterior segment developmental anomaly of genetic origin 12.5
34 anterior segment developmental anomaly without extraocular manifestations 12.5
35 oculoauricular syndrome 12.3
36 edict syndrome 11.7
37 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 11.4
38 microphthalmia, isolated, with coloboma 9 11.4
39 acid sphingomyelinase deficiency 10.4
40 developmental defect of the eye 10.4 SLC38A8 PAX6
41 isolated foveal hypoplasia 10.4 SLC38A8 PAX6
42 axenfeld-rieger syndrome, type 2 10.4 PITX2 FOXC1
43 congenital aphakia 10.3 PAX6 FOXE3
44 niemann-pick disease 10.3
45 lysosomal storage disease 10.3
46 acquired color blindness 10.3 PITX2 PAX6 FOXC1
47 congenital hypopituitarism 10.2 PITX2 PAX6
48 intestinal atresia 10.2 PITX2 PAX6 FOXC1
49 megalocornea 10.2 PITX2 FOXC1 CYP1B1
50 yemenite deaf-blind hypopigmentation syndrome 10.2

Graphical network of the top 20 diseases related to Anterior Segment Dysgenesis:



Diseases related to Anterior Segment Dysgenesis

Symptoms & Phenotypes for Anterior Segment Dysgenesis

Human phenotypes related to Anterior Segment Dysgenesis:

58 31 (show all 31)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000505
2 aplasia/hypoplasia of the iris 58 31 hallmark (90%) Very frequent (99-80%) HP:0008053
3 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
4 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
5 opacification of the corneal stroma 58 31 frequent (33%) Frequent (79-30%) HP:0007759
6 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
7 corneal erosion 58 31 frequent (33%) Frequent (79-30%) HP:0200020
8 optic nerve hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0000609
9 keratoconjunctivitis sicca 58 31 frequent (33%) Frequent (79-30%) HP:0001097
10 corneal neovascularization 58 31 frequent (33%) Frequent (79-30%) HP:0011496
11 glaucoma 58 31 frequent (33%) Frequent (79-30%) HP:0000501
12 ectopia lentis 58 31 frequent (33%) Frequent (79-30%) HP:0001083
13 macular hypoplasia 58 31 frequent (33%) Frequent (79-30%) HP:0001104
14 short palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0012745
15 macular hypopigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007988
16 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
17 nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000639
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
20 umbilical hernia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001537
21 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
22 abnormality of the genital system 58 31 occasional (7.5%) Occasional (29-5%) HP:0000078
23 abnormality of the sense of smell 58 31 occasional (7.5%) Occasional (29-5%) HP:0004408
24 microcornea 58 31 occasional (7.5%) Occasional (29-5%) HP:0000482
25 optic nerve coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000588
26 keratoconus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000563
27 iris hypopigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007730
28 aplasia/hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007370
29 abnormality of the hypothalamus-pituitary axis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000864
30 behavioral abnormality 58 Occasional (29-5%)
31 keratitis 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Anterior Segment Dysgenesis:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.96 COL4A1 FOXC1 HMX1 LGR4 PAX6 PIK3R1
2 nervous system MP:0003631 9.85 COL4A1 FOXC1 HMX1 LGR4 MAF PAX6
3 vision/eye MP:0005391 9.4 COL4A1 CYP1B1 FOXC1 HMX1 LGR4 MAF
4 pigmentation MP:0001186 9.35 FOXC1 PAX6 PITX2 PITX3 PXDN

Drugs & Therapeutics for Anterior Segment Dysgenesis

Drugs for Anterior Segment Dysgenesis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Pharmaceutical Solutions Phase 2, Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase 2/3, Multicenter, Randomized, Double-blinded, Placebo-controlled, Repeat-dose Study to Evaluate the Efficacy, Safety, Pharmacodynamics, and Pharmacokinetics of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004691 Phase 2, Phase 3 placebo (saline);GZ402665
2 A Long-Term Study to Assess the Ongoing Safety and Efficacy of Olipudase Alfa in Patients With Acid Sphingomyelinase Deficiency Active, not recruiting NCT02004704 Phase 2 GZ402665
3 An Open-label, Multicenter, Ascending Dose Study of the Tolerability and Safety of Recombinant Human Acid Sphingomyelinase (rhASM) in Patients With Acid Sphingomyelinase Deficiency (ASMD) Completed NCT01722526 Phase 1 Recombinant human acid sphingomyelinase
4 A Phase I, Single-Center, Single Dose, Dose Escalation Study of Recombinant Human Acid Sphingomyelinase (rhASM) in Adults With Acid Sphingomyelinase Deficiency (ASMD) Terminated NCT00410566 Phase 1 rhASM;rhASM;rhASM;rhASM;rhASM
5 A Prospective and Retrospective Cohort Study to Refine and Expand the Knowledge on Patients With Chronic Forms of Acid Sphingomyelinase Deficiency (ASMD) Recruiting NCT04106544

Search NIH Clinical Center for Anterior Segment Dysgenesis

Genetic Tests for Anterior Segment Dysgenesis

Genetic tests related to Anterior Segment Dysgenesis:

# Genetic test Affiliating Genes
1 Anterior Segment Dysgenesis 29

Anatomical Context for Anterior Segment Dysgenesis

The Foundational Model of Anatomy Ontology organs/tissues related to Anterior Segment Dysgenesis:

19
Anterior Segment Of The Eye

MalaCards organs/tissues related to Anterior Segment Dysgenesis:

40
Eye, Endothelial, Lung, Skin, Hypothalamus, Pituitary, Heart

Publications for Anterior Segment Dysgenesis

Articles related to Anterior Segment Dysgenesis:

(show top 50) (show all 256)
# Title Authors PMID Year
1
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism? 61
32016663 2020
2
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis. 61
32015378 2020
3
The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus. 61
32032626 2020
4
Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss. 61
31836490 2020
5
Anterior Segment Dysgenesis With Accessory Iris Membranes in an Infant With Otopalatodigital Spectrum Disorder and Mutation in the FLNA Gene. 61
31978233 2020
6
Biallelic Deletion of Pxdn in Mice Leads to Anophthalmia and Severe Eye Malformation. 61
31817535 2019
7
Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. 61
31848469 2019
8
Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse. 61
31845891 2019
9
Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway. 61
30683901 2019
10
Contribution of a Novel B3GLCT Variant to Peters Plus Syndrome Discovered by a Combination of Next-Generation Sequencing and Automated Text Mining. 61
31795264 2019
11
Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome. 61
31546553 2019
12
Childhood Glaucoma: Long-Term Outcomes of Glaucoma Drainage Device Implantation Within the First 2 Years of Life. 61
31394565 2019
13
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes. 61
30225942 2019
14
Compound heterozygous mutations in SMO associated with anterior segment dysgenesis and morning glory syndrome. 61
31301482 2019
15
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. 61
31350873 2019
16
Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis. 61
30242500 2019
17
Terminology of Peters' anomaly variants: Summary of histopathological findings in 6 corneas and detailed clinicopathological correlation in 2 cases. 61
31686970 2019
18
Syndromic Multisuture Craniosynostosis With Associated Anterior Segment Dysgenesis, Optic Nerve Hypoplasia, and Congenital Glaucoma. 61
30585077 2019
19
Congenital eye anomalies: More mosaic than thought? 61
30039880 2019
20
[Ocular Phenotype and Complications in Patients with Tuberous Sclerosis Complex (TSC)]. 61
30763959 2019
21
Endoscopic cyclophotocoagulation (ECP) for childhood glaucoma: a large single-center cohort experience. 61
30890461 2019
22
Indications and Surgical Techniques for Corneal Transplantation at a Tertiary Referral Center. 61
31114647 2019
23
Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs. 61
30131012 2019
24
CGH array for the identification of a compound heterozygous mutation in the CYP1B1 gene in a patient with bilateral anterior segment dysgenesis. 61
30207287 2019
25
An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases. 61
31106028 2019
26
Feline Neovascular Vitreoretinopathy and Anterior Segment Dysgenesis With Concurrent Glaucoma in Domestic Cats. 61
30222091 2019
27
[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis]. 61
30736081 2019
28
Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome. 61
31341655 2019
29
Mutations in VSX2, SOX2, and FOXE3 Identified in Patients with Micro-/Anophthalmia. 61
31884615 2019
30
Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1+/-) in mice. 61
30820148 2019
31
Early Predictors of Long-term Outcomes in Childhood Glaucoma. 61
30059407 2018
32
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients. 61
30457409 2018
33
Congenital Ocular Abnormalities in Free-Ranging White-Tailed Deer. 61
29444630 2018
34
Glaucoma With Crouzon Syndrome. 61
29557836 2018
35
Trabecular meshwork morphogenesis: A comparative analysis of wildtype and anterior segment dysgenesis mouse models. 61
29452107 2018
36
FOXE3 mutations: genotype-phenotype correlations. 61
29136273 2018
37
Genetic Testing in Pediatric Ophthalmology. 61
28971364 2018
38
An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis. 61
29148029 2018
39
Retinal pigment epithelium changes in pediatric patients with glaucoma drainage devices. 61
29468212 2018
40
Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat. 61
29249729 2018
41
Ocular and uteroplacental pathology in a macaque pregnancy with congenital Zika virus infection. 61
29381706 2018
42
Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature. 61
27929720 2018
43
Ciliary margin-derived BMP4 does not have a major role in ocular development. 61
29738572 2018
44
Use of 2-octyl cyanoacrylate for wound closure in a modified Roberts-Bistner procedure for eyelid agenesis in five cats (nine eyes). 61
29319444 2018
45
CYP1B1 Cytopathy: Uncommon Phenotype of a Homozygous CYP1B1 Deletion as Internal Corneal Ulcer of Von Hippel. 61
28644236 2017
46
Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome. 61
28681995 2017
47
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma. 61
28911203 2017
48
Hand-held optical coherence tomography imaging in children with anterior segment dysgenesis. 61
27130748 2017
49
The rare Axenfeld-Rieger syndrome with systemic anomalies: A case report and brief review of literature. 61
28816964 2017
50
Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf. 61
28529272 2017

Variations for Anterior Segment Dysgenesis

ClinVar genetic disease variations for Anterior Segment Dysgenesis:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PXDN NM_012293.3(PXDN):c.2459A>G (p.Gln820Arg)SNV Likely pathogenic 635164 rs1558489563 2:1653093-1653093 2:1649321-1649321

Expression for Anterior Segment Dysgenesis

Search GEO for disease gene expression data for Anterior Segment Dysgenesis.

Pathways for Anterior Segment Dysgenesis

GO Terms for Anterior Segment Dysgenesis

Cellular components related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 collagen-containing extracellular matrix GO:0062023 9.26 TGFBI PXDN COL4A1 A2M
2 nuclear chromatin GO:0000790 9.23 VSX1 PITX3 PITX2 PAX6 MAF HMX1

Biological processes related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription by RNA polymerase II GO:0006357 10.01 VSX1 PITX3 PITX2 PAX6 FOXE3 FOXC1
2 regulation of transcription, DNA-templated GO:0006355 10.01 VSX1 PITX3 PITX2 PAX6 MAF HMX1
3 multicellular organism development GO:0007275 10 VSX1 PITX3 PITX2 PAX6 LGR4 HMX1
4 visual perception GO:0007601 9.83 VSX1 TGFBI PAX6 CYP1B1
5 anatomical structure morphogenesis GO:0009653 9.67 PITX3 PITX2 FOXE3 FOXC1
6 collagen fibril organization GO:0030199 9.61 PXDN FOXC1 CYP1B1
7 blood vessel morphogenesis GO:0048514 9.57 CYP1B1 COL4A1
8 negative regulation of neurogenesis GO:0050768 9.56 PITX3 PAX6
9 camera-type eye development GO:0043010 9.56 PITX2 PAX6 FOXE3 FOXC1
10 cornea development in camera-type eye GO:0061303 9.55 PAX6 FOXE3
11 positive regulation of core promoter binding GO:1904798 9.51 PAX6 FOXC1
12 lacrimal gland development GO:0032808 9.49 PAX6 FOXC1
13 retinal blood vessel morphogenesis GO:0061304 9.48 CYP1B1 COL4A1
14 iris morphogenesis GO:0061072 9.33 PITX2 PAX6 FOXE3
15 trabecular meshwork development GO:0002930 9.32 FOXE3 CYP1B1
16 lens development in camera-type eye GO:0002088 9.26 PITX3 PAX6 MAF FOXE3
17 eye development GO:0001654 8.92 PAX6 FOXE3 FOXC1 CPAMD8

Molecular functions related to Anterior Segment Dysgenesis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.86 VSX1 PITX3 PITX2 PAX6 MAF HMX1
2 DNA-binding transcription factor activity GO:0003700 9.7 VSX1 PITX3 PITX2 PAX6 MAF FOXE3
3 transcription factor binding GO:0008134 9.67 PITX2 PIK3R1 PAX6 FOXC1
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.56 VSX1 PITX3 PITX2 PAX6 MAF HMX1
5 extracellular matrix structural constituent GO:0005201 9.5 TGFBI PXDN COL4A1
6 sequence-specific DNA binding GO:0043565 9.23 VSX1 PITX3 PITX2 PAX6 MAF HMX1

Sources for Anterior Segment Dysgenesis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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