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 microphthalmia and coloboma of eye lens. An important gene associated with Coloboma of Eyelid is SALL2 (Spalt Like Transcription Factor 2), and among its related pathways/superpathways are Ectoderm Differentiation and Signaling pathways regulating pluripotency of stem cells. 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 microphthalmia 9.2 ABCB6 PAX6
2 coloboma of eye lens 8.1 ABCB6 FZD5 PAX6 SALL2
3 coloboma of optic nerve 8.1 ABCB6 FZD5 PAX6 SALL2
4 coloboma, ocular, autosomal dominant 8.0 ABCB6 FZD5 PAX6 SALL2
5 coloboma of macula 7.9 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:

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 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:

41
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 11.31 FZD5 PAX6
2 11.1 FZD5 PAX6
3 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 multicellular organism development GO:0007275 9.43 FZD5 PAX6 SALL2
2 positive regulation of transcription by RNA polymerase II GO:0045944 9.33 FZD5 PAX6 SALL2
3 brain development GO:0007420 9.32 ABCB6 PAX6
4 eye development GO:0001654 8.96 PAX6 SALL2
5 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 transcription regulatory region DNA binding GO:0044212 8.96 PAX6 SALL2
2 transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific DNA binding GO:0001228 8.62 PAX6 SALL2

Sources for Coloboma of Eyelid

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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