Genopathy
Gene-Disorder Association · Article
Gene
SUFU
SUFU Negative Regulator Of Hedgehog Signaling
Disorder
Basal Cell Nevus Syndrome 1
First reported 2002
Supporting publications 22
Key publication · gene–disorder Mutations in SUFU predispose to medulloblastoma.Nature genetics · 2002
Key publication · disorder Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.The New England journal of medicine · 1960
Manually curated
Association Review

In brief

The association between SUFU (SUFU Negative Regulator Of Hedgehog Signaling) and Basal Cell Nevus Syndrome 1 is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording likely-pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 1,188
Symptoms 89
Compounds 0
Trials 0
Publications 22
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

3 sources

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

Request access
03
SUFU

The gene

1 source summary

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

Request access
04
Basal Cell Nevus Syndrome 1

The disorder

13 database identifiers

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

Request access
05
Phenotype

Clinical features

69 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

1,188 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

22 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access