eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Deafness, autosomal recessive 53
Deafness, autosomal recessive 53
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Subtype of:
Deafness
·
Deafness, autosomal recessive
Download ▾
Download as CSV
Download as PDF
Show by gene
(one row per gene, with all of its disease terms together)
Pathways column key:
KEGG
Reactome
Disease Term
Disease ID
Gene Symbol
Classification
References
Source
Pathways
Deafness autosomal recessive type 53
MONDO_0012333
COL11A2
Unknown
10581026
10677296
14234962
15372529
15558753
16033917
16189708
16637051
25633957
7833911
7859284
9506662
Open Targets
Cytoskeleton in muscle cells
Protein digestion and absorption
Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Non-integrin membrane-ECM interactions
MET activates PTK2 signaling
Collagen chain trimerization
+5 more
Deafness, autosomal recessive 53
MONDO_0012333
COL11A2
Unknown
7559422
9188673
2591970
16637051
16609882
8431643
14234962
2321911
25633957
15558753
16033917
8838804
7859284
11289713
9805126
22246659
10677296
2760050
8486632
10581026
15372529
1906426
7833911
9506662
Open Targets
Cytoskeleton in muscle cells
Protein digestion and absorption
Collagen degradation
Collagen biosynthesis and modifying enzymes
Assembly of collagen fibrils and other multimeric structures
Non-integrin membrane-ECM interactions
MET activates PTK2 signaling
Collagen chain trimerization
+5 more
All
1
Causal
0
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
0
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Deafness, autosomal recessive 53.
0
View disease cluster →
No strongly related diseases found yet for Deafness, autosomal recessive 53.
1
GeDiPNet AI Assistant
Online