Gene-Disorder Association · Article
First reported
1966
Supporting publications
1
Manually curated Approved treatment annotated
Association Review
In brief The association between MYO5B (Myosin VB) and Cholestasis, Progressive Familial Intrahepatic, 1 is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording a causative germline mutation.
Sources
2
Clinical variants
0
Symptoms
27
Compounds
1
Trials
8 of 20 via MYO5B compounds
Publications
1
Contents
01
At a glance
Association overview A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.
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Provenance
Evidence and sources 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
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A gene summary alongside the source descriptions it was distilled from.
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Cholestasis, Progressive Familial Intrahepatic, 1
The disorder 14 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
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Phenotype
Clinical features 16 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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Mechanism overlap
Shared mechanisms Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
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Interventions
Therapeutics 1 compound or drug
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 20 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
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Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
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Provenance
References & sources 9 references
Every source and publication cited across this dossier, as one numbered reference list.
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