MCID: MY5001
MIFTS: 6

Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Categories: Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

MalaCards integrated aliases for Myo5b-Related Progressive Familial Intrahepatic Cholestasis:

Name: Myo5b-Related Progressive Familial Intrahepatic Cholestasis 55
Myo5b Deficiency 55

Classifications:



External Ids:

Orphanet 55 ORPHA480491

Summaries for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

MalaCards based summary : Myo5b-Related Progressive Familial Intrahepatic Cholestasis, is also known as myo5b deficiency. An important gene associated with Myo5b-Related Progressive Familial Intrahepatic Cholestasis is MYO5B (Myosin VB). Affiliated tissues include liver.

Related Diseases for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Symptoms & Phenotypes for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Drugs & Therapeutics for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Search Clinical Trials , NIH Clinical Center for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Genetic Tests for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Anatomical Context for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

MalaCards organs/tissues related to Myo5b-Related Progressive Familial Intrahepatic Cholestasis:

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Liver

Publications for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Variations for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Expression for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Search GEO for disease gene expression data for Myo5b-Related Progressive Familial Intrahepatic Cholestasis.

Pathways for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

GO Terms for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

Sources for Myo5b-Related Progressive Familial Intrahepatic Cholestasis

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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