Genopathy
Gene-Disorder Association · Article
Gene
ADSL
Adenylosuccinate Lyase
Disorder
Disease Of Metabolism
First reported 2005
Supporting publications 3
Key publication · gene–disorder Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency.Journal of inherited metabolic disease · 2005
Key publication · disorder A system of physiodynamics and its application to the neuroendocrinology of psychiatry; part II of physiodynamics and some major metabolic disorders.Journal of clinical and experimental psychopathology · 1950
Manually curated
Association Review

In brief

The association between ADSL (Adenylosuccinate Lyase) and Disease Of Metabolism is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 1
Compounds 0
Trials 0
Publications 3
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
ADSL

The gene

1 source summary

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

Request access
04
Disease Of Metabolism

The disorder

9 database identifiers

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

Request access
05
Literature

Reading

3 publications

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

Request access
06
Provenance

References & sources

6 references

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

Request access