Genopathy
Gene-Disorder Association · Article
Gene
LOC123864065
NANOG HESC Enhancer GRCh37_chr6:129761748-129762353
Disorder
Muscular Dystrophy, Congenital Merosin-Deficient, 1a
First reported 1955
Key publication · disorder Dystrophia Muscularis: A HEREDITARY PRIMARY MYOPATHY IN THE HOUSE MOUSE.Proceedings of the National Academy of Sciences of the United States of America · 1955
Association Review

In brief

The association between LOC123864065 (NANOG HESC Enhancer GRCh37_chr6:129761748-129762353) and Muscular Dystrophy, Congenital Merosin-Deficient, 1a is supported by expert-curated evidence, drawing on a single expert-curated source, which records likely-pathogenic variants.

Sources 1
Clinical variants 17
Symptoms 79
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
LOC123864065

The gene

1 source summary

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

Request access
04
Muscular Dystrophy, Congenital Merosin-Deficient, 1a

The disorder

12 database identifiers

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

Request access
05
Phenotype

Clinical features

62 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

17 clinical variants

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

Request access
07
Provenance

References & sources

6 references

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

Request access