Genopathy
Gene-Disorder Association · Article
Gene
LOC126861615
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr12:103244689-103245888
Disorder
Phenylketonuria
First reported 1992
Supporting publications 106
Key publication · gene–disorder Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.Human mutation · 1992
Key publication · disorder Excretion of phenylalanine and derivatives in phenylpyruvic oligophrenia.Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.) · 1950
Manually curated
Association Review

In brief

The association between LOC126861615 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr12:103244689-103245888) and Phenylketonuria is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 80
Symptoms 114
Compounds 0
Trials 0
Publications 106
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
LOC126861615

The gene

1 source summary

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

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04
Phenylketonuria

The disorder

29 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

73 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

80 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

106 publications

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

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08
Provenance

References & sources

15 references

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

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