MCID: CLB008
MIFTS: 18

Coloboma of Eye Lens

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coloboma of Eye Lens

MalaCards integrated aliases for Coloboma of Eye Lens:

Name: Coloboma of Eye Lens 53 59

Classifications:



External Ids:

Orphanet 59 ORPHA98943
UMLS via Orphanet 74 C0344516
ICD10 via Orphanet 34 Q12.2

Summaries for Coloboma of Eye Lens

MalaCards based summary : Coloboma of Eye Lens is related to microphthalmia and coloboma of eyelid. An important gene associated with Coloboma of Eye Lens is PAX6 (Paired Box 6), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Ectoderm Differentiation. Affiliated tissues include eye, and related phenotype is Decreased human papilloma virus 16 (HPV16) pseudovirus infection.

Related Diseases for Coloboma of Eye Lens

Diseases related to Coloboma of Eye Lens via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 9.8 ABCB6 PAX6
2 coloboma of eyelid 9.4 ABCB6 FZD5 PAX6 SALL2
3 coloboma, ocular, autosomal dominant 9.4 ABCB6 FZD5 PAX6 SALL2
4 coloboma of optic nerve 9.4 ABCB6 FZD5 PAX6 SALL2
5 coloboma of macula 9.3 ABCB6 FZD5 PAX6 SALL2

Graphical network of the top 20 diseases related to Coloboma of Eye Lens:



Diseases related to Coloboma of Eye Lens

Symptoms & Phenotypes for Coloboma of Eye Lens

GenomeRNAi Phenotypes related to Coloboma of Eye Lens according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased human papilloma virus 16 (HPV16) pseudovirus infection GR00306-A 8.8 ABCB6 PAX6 SALL2

Drugs & Therapeutics for Coloboma of Eye Lens

Search Clinical Trials , NIH Clinical Center for Coloboma of Eye Lens

Genetic Tests for Coloboma of Eye Lens

Anatomical Context for Coloboma of Eye Lens

MalaCards organs/tissues related to Coloboma of Eye Lens:

41
Eye

Publications for Coloboma of Eye Lens

Variations for Coloboma of Eye Lens

Expression for Coloboma of Eye Lens

Search GEO for disease gene expression data for Coloboma of Eye Lens.

Pathways for Coloboma of Eye Lens

Pathways related to Coloboma of Eye Lens according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.74 FZD5 PAX6
2 11.31 FZD5 PAX6
3 11.1 FZD5 PAX6
4 10.42 FZD5 PAX6

GO Terms for Coloboma of Eye Lens

Biological processes related to Coloboma of Eye Lens according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 FZD5 PAX6 SALL2
2 brain development GO:0007420 9.26 ABCB6 PAX6
3 eye development GO:0001654 8.96 PAX6 SALL2
4 embryonic camera-type eye morphogenesis GO:0048596 8.62 FZD5 PAX6

Molecular functions related to Coloboma of Eye Lens according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein-containing complex binding GO:0044877 9.16 FZD5 SALL2
2 ubiquitin protein ligase binding GO:0031625 8.96 FZD5 PAX6
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 8.62 PAX6 SALL2

Sources for Coloboma of Eye Lens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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