Genopathy
Gene-Disorder Association · Article
Gene
NOG
Noggin
Disorder
Proximal Symphalangism
First reported 1995
Supporting publications 11
Key publication · gene–disorder Localization of the gene (SYM1) for proximal symphalangism to human chromosome 17q21-q22.Genomics · 1995
Key publication · disorder Proximal symphalangism of fingers associated with fusion of os naviculare and talus and occurrence of two accessory bones in the feet (os paranaviculare and os tibiale externum) in an European--Indonesian--Chinese family.Acta genetica et statistica medica · 1967
Manually curated
Association Review

In brief

The association between NOG (Noggin) and Proximal Symphalangism is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 15
Compounds 0
Trials 0
Publications 11
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
NOG

The gene

1 source summary

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

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04
Proximal Symphalangism

The disorder

7 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

15 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

11 publications

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

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08
Provenance

References & sources

12 references

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

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