Genopathy
Gene-Disorder Association · Article
Gene
UGT1A
UDP Glucuronosyltransferase Family 1 Member A Complex Locus
Disorder
Crigler-Najjar Syndrome, Type Ii
First reported 1975
Supporting publications 43
Key publication · gene–disorder Prolonged survival in three brothers with severe type 2 Crigler-Najjar syndrome. Ultrastructural and metabolic studies.Gastroenterology · 1975
Key publication · disorder DEFECTS IN HEPATIC TRANSPORT OF BILIRUBIN IN CONGENITAL HYPERBILIRUBINAEMIA: AN ANALYSIS OF PLASMA BILIRUBIN DISAPPEARANCE CURVES.Clinical science · 1964
Manually curated
Association Review

In brief

The association between UGT1A (UDP Glucuronosyltransferase Family 1 Member A Complex Locus) and Crigler-Najjar Syndrome, Type Ii is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 57
Symptoms 10
Compounds 0
Trials 0
Publications 43
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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02
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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03
UGT1A

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Crigler-Najjar Syndrome, Type Ii

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

6 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
ClinVar and variant evidence

Genetic basis

57 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Literature

Reading

43 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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08
Provenance

References & sources

14 references

Every source and publication cited across this dossier, as one numbered reference list.

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