Genopathy
Gene-Disorder Association · Article
Gene
KMT2D
Lysine Methyltransferase 2D
Disorder
Kabuki Syndrome 1
First reported 2009
Supporting publications 82
Key publication · gene–disorder Further evidence of dominant inheritance of Kabuki syndrome.Clinical dysmorphology · 2009
Key publication · disorder Abnormal properties of collagen lysyl hydroxylase from skin fibroblasts of siblings with hydroxylysine-deficient collagen.The Journal of clinical investigation · 1976
Manually curated
Association Review

In brief

The association between KMT2D (Lysine Methyltransferase 2D) and Kabuki Syndrome 1 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 5,573
Symptoms 250
Compounds 0
Trials 0
Publications 82
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

5 sources

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

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03
KMT2D

The gene

1 source summary

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

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04
Kabuki Syndrome 1

The disorder

13 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

222 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

5,573 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

2 shared pathways

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

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08
Literature

Reading

82 publications

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

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09
Provenance

References & sources

19 references

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

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