Genopathy
Gene-Disorder Association · Article
Gene
TGM1
Transglutaminase 1
Disorder
Ichthyosis
First reported 1997
Supporting publications 16
Key publication · gene–disorder Transglutaminase 1 mutations in autosomal recessive congenital ichthyosis: private and recurrent mutations in an isolated population.American journal of human genetics · 1997
Key publication · disorder [Syndermotic cataract and congenital ichthyosis].Klinische Monatsblatter fur Augenheilkunde und fur augenarztliche Fortbildung · 1950
Manually curated
Association Review

In brief

The association between TGM1 (Transglutaminase 1) and Ichthyosis is a manually-curated gene–disease association, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 1
Symptoms 1
Compounds 0
Trials 0
Publications 16
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

2 sources

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

Request access
03
TGM1

The gene

1 source summary

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

Request access
04
Ichthyosis

The disorder

8 database identifiers

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

Request access
05
ClinVar and variant evidence

Genetic basis

1 clinical variant

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

Request access
06
Literature

Reading

16 publications

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

Request access
07
Provenance

References & sources

12 references

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

Request access