Genopathy
Gene-Disorder Association · Article
Gene
TLL1
Tolloid Like 1
Disorder
Atrial Septal Defect, Ostium Primum Type
First reported 1956
Supporting publications 1
Key publication · disorder The persistent ostium primum atrial septal defect.Circulation · 1956
Manually curated
Association Review

In brief

The association between TLL1 (Tolloid Like 1) and Atrial Septal Defect, Ostium Primum Type is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 59
Compounds 0
Trials 0
Publications 1
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

1 source

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

Request access
03
TLL1

The gene

1 source summary

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

Request access
04
Atrial Septal Defect, Ostium Primum Type

The disorder

9 database identifiers

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

Request access
05
Phenotype

Clinical features

57 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Literature

Reading

1 publication

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

Request access
08
Provenance

References & sources

5 references

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

Request access