Association Review
In brief The association between H19 (H19 Imprinted Maternally Expressed Transcript) and Silver-Russell Syndrome 1 is reported, with clinical genetic testing available, supported by 2 contributing sources.
Sources
2
Clinical variants
0
Symptoms
93
Compounds
0
Trials
0
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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Silver-Russell Syndrome 1
The disorder 13 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 69 clinical features
The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.
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Genomic context
Regulatory context 1 regulatory element
GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.
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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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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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