Genopathy
Gene-Disorder Association · Article
Gene
MAPT
Microtubule Associated Protein Tau
Disorder
Progressive Supranuclear Palsy
First reported 1994
Supporting publications 40
Key publication · gene–disorder Pathological Tau proteins of Alzheimer's disease as a biochemical marker of neurofibrillary degeneration.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 1994
Key publication · disorder PROGRESSIVE SUPRANUCLEAR PALSY. A HETEROGENEOUS DEGENERATION INVOLVING THE BRAIN STEM, BASAL GANGLIA AND CEREBELLUM WITH VERTICAL GAZE AND PSEUDOBULBAR PALSY, NUCHAL DYSTONIA AND DEMENTIA.Archives of neurology · 1964
Manually curated
Association Review

In brief

The association between MAPT (Microtubule Associated Protein Tau) and Progressive Supranuclear Palsy is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.

Sources 2
Clinical variants 6
Symptoms 46
Compounds 0
Trials 0
Publications 40
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
MAPT

The gene

1 source summary

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

Request access
04
Progressive Supranuclear Palsy

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

32 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

6 clinical variants

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

Request access
07
Population genetics

GWAS signals

1 GWAS phenotype

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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

40 publications

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

Request access
10
Provenance

References & sources

16 references

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

Request access