CKBE
MCID: CRT047
MIFTS: 9

Creatine Kinase, Brain Type, Ectopic Expression of (CKBE)

Categories: Neuronal diseases

Aliases & Classifications for Creatine Kinase, Brain Type, Ectopic Expression of

MalaCards integrated aliases for Creatine Kinase, Brain Type, Ectopic Expression of:

Name: Creatine Kinase, Brain Type, Ectopic Expression of 57
Ckbe 57

Classifications:



External Ids:

OMIM 57 123270
MedGen 42 C3887923

Summaries for Creatine Kinase, Brain Type, Ectopic Expression of

MalaCards based summary : Creatine Kinase, Brain Type, Ectopic Expression of, also known as ckbe, is related to perrault syndrome 1. An important gene associated with Creatine Kinase, Brain Type, Ectopic Expression of is CKBE (Creatine Kinase, Ectopic Expression). Affiliated tissues include brain, and related phenotype is abnormality of creatine metabolism.

Description from OMIM: 123270

Related Diseases for Creatine Kinase, Brain Type, Ectopic Expression of

Diseases related to Creatine Kinase, Brain Type, Ectopic Expression of via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 perrault syndrome 1 11.1

Symptoms & Phenotypes for Creatine Kinase, Brain Type, Ectopic Expression of

Clinical features from OMIM:

123270

Human phenotypes related to Creatine Kinase, Brain Type, Ectopic Expression of:

32
# Description HPO Frequency HPO Source Accession
1 abnormality of creatine metabolism 32 HP:0012113

Drugs & Therapeutics for Creatine Kinase, Brain Type, Ectopic Expression of

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Genetic Tests for Creatine Kinase, Brain Type, Ectopic Expression of

Anatomical Context for Creatine Kinase, Brain Type, Ectopic Expression of

MalaCards organs/tissues related to Creatine Kinase, Brain Type, Ectopic Expression of:

41
Brain

Publications for Creatine Kinase, Brain Type, Ectopic Expression of

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Expression for Creatine Kinase, Brain Type, Ectopic Expression of

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Pathways for Creatine Kinase, Brain Type, Ectopic Expression of

GO Terms for Creatine Kinase, Brain Type, Ectopic Expression of

Sources for Creatine Kinase, Brain Type, Ectopic Expression of

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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