MCID: CLB018
MIFTS: 19

Coloboma of Eyelid

Categories: Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coloboma of Eyelid

Summaries for Coloboma of Eyelid

MalaCards based summary : Coloboma of Eyelid is related to coloboma of macula and microphthalmia. An important gene associated with Coloboma of Eyelid 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 Eyelid

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

# Related Disease Score Top Affiliating Genes
1 coloboma of macula 28.5 ABCB6 FZD5 PAX6 SALL2
2 microphthalmia 9.6 ABCB6 PAX6
3 coloboma of eye lens 9.1 ABCB6 FZD5 PAX6 SALL2
4 coloboma, ocular, autosomal dominant 9.0 ABCB6 FZD5 PAX6 SALL2
5 coloboma of optic nerve 9.0 ABCB6 FZD5 PAX6 SALL2

Graphical network of the top 20 diseases related to Coloboma of Eyelid:



Diseases related to Coloboma of Eyelid

Symptoms & Phenotypes for Coloboma of Eyelid

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

27
# 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 Eyelid

Search Clinical Trials , NIH Clinical Center for Coloboma of Eyelid

Genetic Tests for Coloboma of Eyelid

Anatomical Context for Coloboma of Eyelid

MalaCards organs/tissues related to Coloboma of Eyelid:

42
Eye

Publications for Coloboma of Eyelid

Articles related to Coloboma of Eyelid:

# Title Authors Year
1
Coloboma of eyelid and harelip. A case report. ( 4981563 )
1969
2
Congenital coloboma of eyelid. ( 25259367 )
1901

Variations for Coloboma of Eyelid

Expression for Coloboma of Eyelid

Search GEO for disease gene expression data for Coloboma of Eyelid.

Pathways for Coloboma of Eyelid

Pathways related to Coloboma of Eyelid 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 Eyelid

Biological processes related to Coloboma of Eyelid 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 Eyelid 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 Eyelid

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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