Genopathy
Gene-Disorder Association · Article
Gene
NAIP
NLR Family Apoptosis Inhibitory Protein
Disorder
Spinal Muscular Atrophy, Type Ii
First reported 1995
Supporting publications 7
Key publication · gene–disorder Molecular analysis of candidate genes on chromosome 5q13 in autosomal recessive spinal muscular atrophy: evidence of homozygous deletions of the SMN gene in unaffected individuals.Human molecular genetics · 1995
Key publication · disorder A distal form of chronic spinal muscular atrophy.Neurology · 1969
Manually curated
Association Review

In brief

The association between NAIP (NLR Family Apoptosis Inhibitory Protein) and Spinal Muscular Atrophy, Type Ii is a manually-curated gene–disease association, supported by a single expert-curated source.

Sources 1
Clinical variants 0
Symptoms 13
Compounds 0
Trials 0
Publications 7
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
NAIP

The gene

1 source summary

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

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04
Spinal Muscular Atrophy, Type Ii

The disorder

13 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

8 clinical features

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

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06
Literature

Reading

7 publications

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

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07
Provenance

References & sources

13 references

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

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