Genopathy
Gene-Disorder Association · Article
Gene
SMOC1
SPARC Related Modular Calcium Binding 1
Disorder
Microphthalmia With Limb Anomalies
First reported 2009
Supporting publications 5
Key publication · gene–disorder A locus for ophthalmo-acromelic syndrome mapped to 10p11.23.American journal of medical genetics. Part A · 2009
Key publication · disorder MLA certification: the certification program and education for medical librarianship.Bulletin of the Medical Library Association · 1967
Manually curated
Association Review

In brief

The association between SMOC1 (SPARC Related Modular Calcium Binding 1) and Microphthalmia With Limb Anomalies is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 20
Symptoms 104
Compounds 0
Trials 0
Publications 5
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

5 sources

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

Request access
03
SMOC1

The gene

1 source summary

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

Request access
04
Microphthalmia With Limb Anomalies

The disorder

10 database identifiers

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

Request access
05
Phenotype

Clinical features

79 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

20 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

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

Request access
08
Literature

Reading

5 publications

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

Request access
09
Provenance

References & sources

13 references

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

Request access