Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The Alport syndrome COL4A5 variant database.

Human mutation - 1 Aug 2010

Crockett David K, Pont-Kingdon Genevieve, Gedge Frederick, Sumner Kelli, Seamons Ryan, Lyon Elaine

Abstract excerpt

Alport Syndrome is a progressive renal disease with cochlear and ocular involvement. The most common form ( approximately 80%) is inherited in an X-linked pattern. X-linked Alport Syndrome (XLAS) is caused by mutations in the type IV collagen alpha chain 5 (COL4A5). We have developed a curated disease-specific database containing reported sequence variants in COL4A5. Currently the database archives a total of 520...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Access to Information
Share to Base Sequence
Share to Cell Adhesion Molecules Research

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Collagen Type IV

Share to Databases, Genetic

Share to Mutation

Share to Nephritis, Hereditary

Share to Software

Source

Identifiers

PMID: 20574986
DOI: 10.1002/humu.21312

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The Alport syndrome COL4A5 variant database.PMID 20574986Read ↗

DNA variant databases improve test accuracy and phenotype prediction in Alport syndrome.Semantic proximity Read ↗

The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport SyndromeSemantic proximity Read ↗

X-Linked and Autosomal Recessive Alport Syndrome: Pathogenic Variant Features and Further Genotype-Phenotype CorrelationsSemantic proximity Read ↗

Alport syndrome: a unified classification of genetic disorders of collagen IV α345: a position paper of the Alport Syndrome Classification Working Group.Semantic proximity Read ↗

A novel COL4A5 mutation identified in a Chinese Han family using exome sequencing.Semantic proximity Read ↗

Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.Semantic proximity Read ↗

A Family Report and Literature Review of X-Linked Alport Syndrome Associated With the COL4A5 c.4700G>A (p.Cys1567Tyr) Variant:A case reportSemantic proximity Read ↗

Genotype-Phenotype Correlations for Pathogenic COL4A3–COL4A5 Variants in X-Linked, Autosomal Recessive, and Autosomal Dominant Alport SyndromeSemantic proximity Read ↗

The clinical spectrum of type IV collagen mutations.Semantic proximity Read ↗

Molecular genetics of Alport syndrome.Semantic proximity Read ↗

A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management PerspectivesSemantic proximity Read ↗

A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.