MCID: DSR002
MIFTS: 5

Disorders of Intracellular Cobalamin Metabolism

Categories: Rare diseases, Metabolic diseases

Aliases & Classifications for Disorders of Intracellular Cobalamin Metabolism

MalaCards integrated aliases for Disorders of Intracellular Cobalamin Metabolism:

Name: Disorders of Intracellular Cobalamin Metabolism 23 49 28

Classifications:



Summaries for Disorders of Intracellular Cobalamin Metabolism

MalaCards based summary : Disorders of Intracellular Cobalamin Metabolism An important gene associated with Disorders of Intracellular Cobalamin Metabolism is ABCD4 (ATP Binding Cassette Subfamily D Member 4).

GeneReviews: NBK1328

Related Diseases for Disorders of Intracellular Cobalamin Metabolism

Symptoms & Phenotypes for Disorders of Intracellular Cobalamin Metabolism

Drugs & Therapeutics for Disorders of Intracellular Cobalamin Metabolism

Search Clinical Trials , NIH Clinical Center for Disorders of Intracellular Cobalamin Metabolism

Genetic Tests for Disorders of Intracellular Cobalamin Metabolism

Genetic tests related to Disorders of Intracellular Cobalamin Metabolism:

# Genetic test Affiliating Genes
1 Disorders of Intracellular Cobalamin Metabolism 28 ABCD4

Anatomical Context for Disorders of Intracellular Cobalamin Metabolism

Publications for Disorders of Intracellular Cobalamin Metabolism

Articles related to Disorders of Intracellular Cobalamin Metabolism:

# Title Authors Year
1
Disorders of Intracellular Cobalamin Metabolism ( 20301503 )
1993

Variations for Disorders of Intracellular Cobalamin Metabolism

ClinVar genetic disease variations for Disorders of Intracellular Cobalamin Metabolism:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MMACHC NM_015506.2(MMACHC): c.440G> C (p.Gly147Ala) single nucleotide variant Pathogenic/Likely pathogenic rs140522266 GRCh37 Chromosome 1, 45974478: 45974478

Expression for Disorders of Intracellular Cobalamin Metabolism

Search GEO for disease gene expression data for Disorders of Intracellular Cobalamin Metabolism.

Pathways for Disorders of Intracellular Cobalamin Metabolism

GO Terms for Disorders of Intracellular Cobalamin Metabolism

Sources for Disorders of Intracellular Cobalamin Metabolism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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