Genopathy
Gene-Disorder Association · Article
Gene
CLP1
Cleavage Factor Polyribonucleotide Kinase Subunit 1
Disorder
Spinal Muscular Atrophy, Type Ii
First reported 1969
Key publication · disorder A distal form of chronic spinal muscular atrophy.Neurology · 1969
Manually curated
Association Review

In brief

The association between CLP1 (Cleavage Factor Polyribonucleotide Kinase Subunit 1) and Spinal Muscular Atrophy, Type Ii is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 13
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.

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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
CLP1

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
Provenance

References & sources

6 references

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

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