eDiPNet
☰
Home
Browse
Genes
Diseases
Proteins
SNPs / Variants
Pathways ►
Reactome
KEGG
Analysis
Statistics
Resources
Blogs
Login
Contact Us
Search
Home
/
Diseases
/
Methylmalonic aciduria, cblb type
Methylmalonic aciduria, cblb type
Log in to bookmark this disease
Bookmark This Disease
Title
Project / Tag (optional)
Note (optional)
Cancel
Save
Subtype of:
Methylmalonic acidemia
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
Methylmalonic aciduria, cblB type
251110
MONDO:0009614
MMAB
Causal
12471062
15781192
17957493
ClinGen
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
Cobalamin transport and metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMAB causes methylmalonic aciduria type cblB
+3 more
Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type
EFO_0009074
MMAB
Unknown
27604308
Open Targets
Porphyrin metabolism
Metabolic pathways
Biosynthesis of cofactors
Cobalamin transport and metabolism
Cobalamin (Cbl, vitamin B12) transport and metabolism
Defective MMAB causes methylmalonic aciduria type cblB
+3 more
All
1
Causal
1
Unknown
1
Select all
Clear
ClinVar
0
Orphanet
0
Disgenet
0
CTD
0
HPO
0
GWAS catalog
0
GenCC
0
ClinGen
1
Open Targets
1
Related Diseases
Diseases that share the most curated genes with Methylmalonic aciduria, cblb type.
5
View disease cluster →
Hyper-immunoglobulin d syndrome
1 shared gene
MMAB
Related via 1 shared gene including MMAB.
Polymyositis
1 shared gene
MMAB
Related via 1 shared gene including MMAB.
Methylmalonic acidemia
1 shared gene
MMAB
Related via 1 shared gene including MMAB.
Autoinflammatory syndrome
1 shared gene
MMAB
Related via 1 shared gene including MMAB.
Cataract
1 shared gene
MMAB
Related via 1 shared gene including MMAB.
1
GeDiPNet AI Assistant
Online