MCOPCB2
MCID: MCR346
MIFTS: 11

Microphthalmia, Isolated, with Coloboma 2 (MCOPCB2)

Categories: Eye diseases, Genetic diseases

Aliases & Classifications for Microphthalmia, Isolated, with Coloboma 2

MalaCards integrated aliases for Microphthalmia, Isolated, with Coloboma 2:

Name: Microphthalmia, Isolated, with Coloboma 2 57 70
Microphthalmia with Coloboma 2 57 13
Microphthalmia, Colobomatous, Isolated 2; Mcopcb2 57
Microphthalmia, Colobomatous, Isolated 2 57
Mcopcb2 57

Classifications:



External Ids:

OMIM® 57 605738
OMIM Phenotypic Series 57 PS300345
MedGen 41 C1854018
UMLS 70 C1854018

Summaries for Microphthalmia, Isolated, with Coloboma 2

MalaCards based summary : Microphthalmia, Isolated, with Coloboma 2, also known as microphthalmia with coloboma 2, is related to microphthalmia. An important gene associated with Microphthalmia, Isolated, with Coloboma 2 is MCOPCB2 (Microphthalmia, Colobomatous, 2).

More information from OMIM: 605738 PS300345

Related Diseases for Microphthalmia, Isolated, with Coloboma 2

Diseases in the Microphthalmia, Isolated, with Coloboma 6 family:

Microphthalmia, Isolated, with Coloboma 4 Microphthalmia, Isolated, with Coloboma 1
Microphthalmia, Isolated, with Coloboma 2 Microphthalmia, Isolated, with Coloboma 3
Microphthalmia, Isolated, with Coloboma 5 Microphthalmia, Isolated, with Coloboma 7
Microphthalmia, Isolated, with Coloboma 9 Microphthalmia, Isolated, with Coloboma 10

Diseases related to Microphthalmia, Isolated, with Coloboma 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microphthalmia 11.1

Symptoms & Phenotypes for Microphthalmia, Isolated, with Coloboma 2

Clinical features from OMIM®:

605738 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microphthalmia, Isolated, with Coloboma 2

Search Clinical Trials , NIH Clinical Center for Microphthalmia, Isolated, with Coloboma 2

Genetic Tests for Microphthalmia, Isolated, with Coloboma 2

Anatomical Context for Microphthalmia, Isolated, with Coloboma 2

Publications for Microphthalmia, Isolated, with Coloboma 2

Articles related to Microphthalmia, Isolated, with Coloboma 2:

# Title Authors PMID Year
1
Physical and transcript map of the autosomal dominant colobomatous microphthalmia locus on chromosome 15q12-q15 and refinement to a 4.4 Mb region. 57
15083168 2004
2
A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15. 57
11035633 2000

Variations for Microphthalmia, Isolated, with Coloboma 2

Expression for Microphthalmia, Isolated, with Coloboma 2

Search GEO for disease gene expression data for Microphthalmia, Isolated, with Coloboma 2.

Pathways for Microphthalmia, Isolated, with Coloboma 2

GO Terms for Microphthalmia, Isolated, with Coloboma 2

Sources for Microphthalmia, Isolated, with Coloboma 2

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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