eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Abnormality of the eye
Abnormality of the eye
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Download ▾
Download as CSV
Download as PDF
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Abnormality of the eye
HP:0000478
MAB21L1
Unknown
30487245
27103078
Open Targets
—
MED13
Unknown
29740699
Open Targets
Thyroid hormone signaling pathway
PPARA activates gene expression
Generic Transcription Pathway
Transcriptional regulation of white adipocyte differentiation
+1 more
P4HTM
Unknown
25078763
30940925
Open Targets
—
All
3
Causal
0
Unknown
3
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
3
Related Diseases
Diseases that share the most curated genes with Abnormality of the eye.
5
View disease cluster →
Intellectual developmental disorder, autosomal dominant 61
1 shared gene
MED13
Related via 1 shared gene including MED13.
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
1 shared gene
MAB21L1
Related via 1 shared gene including MAB21L1.
Cerebello-oculo-facio-genital syndrome
1 shared gene
MAB21L1
Related via 1 shared gene including MAB21L1.
Hypotonia, hypoventilation, impaired intellectual development, dysautonomia, epilepsy, and eye abnormalities
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
Hypoventilation
1 shared gene
P4HTM
Related via 1 shared gene including P4HTM.
1
GeDiPNet AI Assistant
Online