eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Microphthalmia, isolated, with coloboma
Microphthalmia, isolated, with coloboma
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Subtype of:
Microphthalmia
Include the contents of this disease's 5 subtypes
in the table below
Show the subtypes
Microphthalmia, isolated, with coloboma 10
Microphthalmia, isolated, with coloboma 6
Microphthalmia, isolated, with coloboma 7
Microphthalmia, isolated, with coloboma 8
Microphthalmia, isolated, with coloboma 9
Download ▾
Download as CSV
Download as PDF
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
microphthalmia isolated with coloboma
MONDO_0000170
SHH
Unknown
12503095
Open Targets
Hedgehog signaling pathway
Axon guidance
Pathways in cancer
Proteoglycans in cancer
Basal cell carcinoma
Gastric cancer
Hedgehog ligand biogenesis
Hh mutants that don't undergo autocatalytic processing are degraded by ERAD
Release of Hh-Np from the secreting cell
Ligand-receptor interactions
Activation of SMO
HHAT G278V abrogates palmitoylation of Hh-Np
+9 more
ABCB6
Unknown
22226084
Open Targets
ABC transporters
Mitochondrial ABC transporters
Defective ABCB6 causes isolated colobomatous microphthalmia 7 (MCOPCB7)
HNRNPC
Unknown
37541189
40004505
Open Targets
Spliceosome
SUMOylation of RNA binding proteins
mRNA Splicing - Major Pathway
Processing of Capped Intron-Containing Pre-mRNA
+1 more
RBP4
Unknown
25910211
Open Targets
Retinoid cycle disease events
The canonical retinoid cycle in rods (twilight vision)
Retinoid metabolism disease events
Retinoid metabolism and transport
+1 more
All
4
Causal
0
Unknown
4
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
4
Related Diseases
Diseases that share the most curated genes with Microphthalmia, isolated, with coloboma.
0
View disease cluster →
No strongly related diseases found yet for Microphthalmia, isolated, with coloboma.
1
GeDiPNet AI Assistant
Online