CCDDRD

Chr 5AR

neurogenin 1

Also known as: AKA, CCDDRD, Math4C, NEUROD3, bHLHa6, ngn1

NCBI Gene: 4762

Enables E-box binding activity and protein homodimerization activity. Involved in several processes, including cochlea morphogenesis; cranial nerve development; and hard palate morphogenesis. Predicted to be located in chromatin. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delayMIM #620469
AR
0
ClinVar variants
0
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— CCDDRD
Some data sources returned errors (2)

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

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CCDDRD · 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

Cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay

MIM #620469

Molecular basis of disorder known

Autosomal recessive
Clinical Literature
Landmark / reviewRecent case evidence

No publications found for CCDDRD

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