CBLF
MCID: CBL006
MIFTS: 20

Cblf (CBLF) malady

Summaries for Cblf

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32MalaCards
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MalaCards: Cblf, also known as methylmalonic aciduria and homocystinuria, cblf type, is related to methylmalonic acidemia and methylmalonic aciduria and homocystinuria type cblf. An important gene associated with Cblf is LMBRD1 (LMBR1 domain containing 1), and among its related pathways are Vitamin digestion and absorption and Carbon metabolism. The compounds l-methylmalonyl-coa and corrinoid have been mentioned in the context of this disorder.

Aliases & Classifications for Cblf

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60UMLS, 20GeneTests
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Aliases & Descriptions:

cblf 20
methylmalonic aciduria and homocystinuria, cblf type 60


Related Diseases for Cblf

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Cblf:



Diseases related to cblf

Clinical Features for Cblf

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Drugs & Therapeutics for Cblf

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Cblf

Drug clinical trials:

Search ClinicalTrials for Cblf

Search NIH Clinical Center for Cblf

Search CenterWatch for Cblf

Genetic Tests for Cblf

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20GeneTests
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Genetic tests related to Cblf:

id Genetic test Affiliating Genes
1 Cblf20 LMBRD1

Anatomical Context for Cblf

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Animal Models for Cblf or affiliated genes

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Publications for Cblf

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Genetic Variations for Cblf

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Expression for genes affiliated with Cblf

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Cblf

Search GEO for disease gene expression data for Cblf.

Pathways for genes affiliated with Cblf

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29KEGG, 37NCBI BioSystems Database, 53Reactome
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Compounds for genes affiliated with Cblf

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB
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Compounds related to Cblf according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1l-methylmalonyl-coa449.6MTR, MUT
2corrinoid449.5TCN2, MTR
3cystathionine449.4MTR, TCN2
4homocysteine44 2410.3TCN2, MTR
5vitamin b6449.2MTR, TCN2
6biotin44 11 2411.2TCN2, MUT
7adenosylcobalamin44 2410.2TCN2, MUT, MTR
8methylcobalamin44 2410.2TCN2, MUT, MTR
9cyanocobalamin49 11 2411.2MTR, MUT, TCN2
10hydroxocobalamin44 1110.1MTR, MUT, TCN2
11methylmalonic acid44 2410.1TCN2, MUT, MTR
12cobalamin44 2410.1MTR, MUT, TCN2
13cobalt44 2410.1TCN2, MUT, MTR
14vitamin b12449.0MTR, MUT, TCN2
15folate449.0TCN2, MUT, MTR
16methionine448.9TCN2, MUT, MTR

GO Terms for genes affiliated with Cblf

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16Gene Ontology
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Biological processes related to Cblf according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin metabolic processGO:0092358.5TCN2, LMBRD1, MUT, MTR
2small molecule metabolic processGO:0442818.5TCN2, LMBRD1, MUT, MTR
3water-soluble vitamin metabolic processGO:0067678.4MTR, MUT, LMBRD1, TCN2
4vitamin metabolic processGO:0067668.2MTR, MUT, LMBRD1, TCN2

Molecular functions related to Cblf according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cobalamin bindingGO:0314198.5TCN2, LMBRD1, MUT, MTR

Products for genes affiliated with Cblf

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Cblf

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet