Genopathy
Gene-Disorder Association · Article
Gene
MARK2
Microtubule Affinity Regulating Kinase 2
Disorder
Intellectual Developmental Disorder, Autosomal Dominant 76
First reported 2024
Key publication · disorder MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway.American journal of human genetics · 2024
Manually curated
Association Review

In brief

The association between MARK2 (Microtubule Affinity Regulating Kinase 2) and Intellectual Developmental Disorder, Autosomal Dominant 76 is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and causative variation.

Sources 2
Clinical variants 0
Symptoms 100
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

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

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03
MARK2

The gene

1 source summary

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

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04
Intellectual Developmental Disorder, Autosomal Dominant 76

The disorder

6 database identifiers

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

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05
Phenotype

Clinical features

82 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Provenance

References & sources

4 references

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

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