PILBOS

Chr 5AD

chromodomain helicase DNA binding protein 1

Also known as: CHD-1, PILBOS

NCBI Gene: 1105

The CHD family of proteins is characterized by the presence of chromo (chromatin organization modifier) domains and SNF2-related helicase/ATPase domains. CHD genes alter gene expression possibly by modification of chromatin structure thus altering access of the transcriptional apparatus to its chromosomal DNA template. [provided by RefSeq, Jul 2008]

Primary Disease Associations & Inheritance

Pilarowski-Bjornsson syndromeMIM #617682
AD
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— PILBOS
Some data sources returned errors (3)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/PILBOS?content-type=application/json&expand=1

gnomad: Error: Gene not found

pubmed: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PILBOS · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM

Pilarowski-Bjornsson syndrome

MIM #617682

Molecular basis of disorder known

Autosomal dominant
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for PILBOS

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools