MCID: CLB008
MIFTS: 16

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 20 58

Classifications:

Orphanet: 58  
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q12.2
UMLS via Orphanet 71 C0344516
Orphanet 58 ORPHA98943

Summaries for Coloboma of Eye Lens

MalaCards based summary : Coloboma of Eye Lens is related to nystagmus 7, congenital, autosomal dominant and nystagmus 2, congenital, autosomal dominant. An important gene associated with Coloboma of Eye Lens is ABCB6 (ATP Binding Cassette Subfamily B Member 6 (Langereis Blood Group)), 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

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:

40
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
11.64 PAX6 FZD5
2 11.11 PAX6 FZD5
3 10.78 PAX6 FZD5

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 SALL2 PAX6 FZD5
2 brain development GO:0007420 9.26 PAX6 ABCB6
3 eye development GO:0001654 8.96 SALL2 PAX6
4 embryonic camera-type eye morphogenesis GO:0048596 8.62 PAX6 FZD5

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

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 8.62 PAX6 FZD5

Sources for Coloboma of Eye Lens

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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