Genopathy
Gene-Disorder Association · Article
Gene
NTRK1
Neurotrophic Receptor Tyrosine Kinase 1
Disorder
Thyroid Carcinoma, Familial Medullary
First reported 1999
Supporting publications 1
Key publication · gene–disorder Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.The Journal of clinical endocrinology and metabolism · 1999
Key publication · disorder Familial amyloid-producing medullary thyroid carcinoma and pheochromocytoma. A distinct genetic entity.Annals of internal medicine · 1965
Manually curated
Association Review

In brief

The association between NTRK1 (Neurotrophic Receptor Tyrosine Kinase 1) and Thyroid Carcinoma, Familial Medullary 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 19
Symptoms 2
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

3 sources

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

Request access
03
NTRK1

The gene

2 source summaries

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

Request access
04
Thyroid Carcinoma, Familial Medullary

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

1 clinical feature

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

19 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

1 publication

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

Request access
09
Provenance

References & sources

7 references

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

Request access