Gene-Disorder Association · Article
Gene
CYP27B1 Cytochrome P450 Family 27 Subfamily B Member 1
×
First reported
1992
Supporting publications
3
Manually curated Approved treatment annotated
Association Review
In brief The association between CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1) and Vitamin D-Dependent Rickets, Type 2a is reported, with clinical genetic testing available.
Sources
1
Clinical variants
0
Symptoms
102
Compounds
3
Trials
0 of 1,566 via CYP27B1 compounds
Publications
3
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 1 source
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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Vitamin D-Dependent Rickets, Type 2a
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 66 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 3 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
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Human studies
Clinical trials 1,566 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 11 references
Every source and publication cited across this dossier, as one numbered reference list.
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