CDAN1

Chr 15

codanin 1

Also known as: CDA1, CDAI, CDAN1A, DLT, PRO1295

This gene encodes a protein that appears to play a role in nuclear envelope integrity, possibly related to microtubule attachments. Mutations in this gene cause congenital dyserythropoietic anemia type I, a disease resulting in morphological and functional abnormalities of erythropoiesis. [provided by RefSeq, Jul 2009]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAnemia, congenital dyserythropoietic, 1A
0
Active trials
11
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
—
Mechanism
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GeneReview available — CDAN1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 3.61
OE 0.50 (0.37–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
-0.94Z-score
OE missense 1.10 (1.04–1.17)
716 obs / 648.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.50 (0.37–0.68)
0≤0.351.4
Missense OE?1.10 (1.04–1.17)
0≤0.61.4
Synonymous OE?1.24
0≤1.21.6
LoF obs/exp: 30 / 60.2Missense obs/exp: 716 / 648.8Syn Z: -3.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CDAN1 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Trials that enrol by condition rarely name the gene: anemia congenital dyserythropoietic type 1a