CKBE
MCID: CRT047
MIFTS: 8

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 58
Ckbe 58

Classifications:



External Ids:

OMIM 58 123270
MedGen 43 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 cone-rod dystrophy and hearing loss 2. 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 abnormal circulating creatine concentration.

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 cone-rod dystrophy and hearing loss 2 11.1

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

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

33
# Description HPO Frequency HPO Source Accession
1 abnormal circulating creatine concentration 33 HP:0012113

Clinical features from OMIM:

123270

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

Search Clinical Trials , NIH Clinical Center for Creatine Kinase, Brain Type, Ectopic Expression of

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:

42
Brain

Publications for Creatine Kinase, Brain Type, Ectopic Expression of

Variations for Creatine Kinase, Brain Type, Ectopic Expression of

Expression for Creatine Kinase, Brain Type, Ectopic Expression of

Search GEO for disease gene expression data for Creatine Kinase, Brain Type, Ectopic Expression of.

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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
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47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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