Genopathy
Gene-Disorder Association · Article
Gene
UGT1A1
UDP Glucuronosyltransferase Family 1 Member A1
Disorder
Crigler-Najjar Syndrome, Type Ii
First reported 1993
Supporting publications 47
Key publication · gene–disorder A mutation in bilirubin uridine 5'-diphosphate-glucuronosyltransferase isoform 1 causing Crigler-Najjar syndrome type II.Gastroenterology · 1993
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 UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1) and Crigler-Najjar Syndrome, Type Ii is well established and manually curated, with its 6 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 6
Clinical variants 58
Symptoms 10
Compounds 0
Trials 0
Publications 47
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

6 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
UGT1A1

The gene

1 source summary

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

Request access
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).

Request access
05
Phenotype

Clinical features

6 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

58 clinical variants

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

Request access
07
Genomic context

Regulatory context

1 regulatory element

GeneHancer regulatory elements for the pair, with coordinates, score, element type and supporting literature.

Request access
08
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
09
Literature

Reading

47 publications

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

Request access
10
Provenance

References & sources

20 references

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

Request access