Genopathy
Gene-Disorder Association · Article
Gene
LOC126862422
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr16:83945234-83946433
Disorder
Malonyl-Coa Decarboxylase Deficiency
First reported 2003
Supporting publications 3
Key publication · gene–disorder MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.Human mutation · 2003
Key publication · disorder [Methyl malonic acidemia with hyperuricemic nephropathy].Archives francaises de pediatrie · 1974
Manually curated
Association Review

In brief

The association between LOC126862422 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr16:83945234-83946433) and Malonyl-Coa Decarboxylase Deficiency is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 66
Symptoms 43
Compounds 0
Trials 0
Publications 3
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

1 source

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

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03
LOC126862422

The gene

1 source summary

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

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04
Malonyl-Coa Decarboxylase Deficiency

The disorder

9 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

33 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

66 clinical variants

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

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07
Literature

Reading

3 publications

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

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08
Provenance

References & sources

10 references

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

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