CAD
Chr 2ARcarbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
Nuclease that induces DNA fragmentation and chromatin condensation during apoptosis. Degrades naked DNA and induces apoptotic morphology
Primary Disease Associations & Inheritance
Definitive — sufficient evidence for diagnostic panels
Some data sources returned errors (2)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi
clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
583 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 10 | 0 | 13 | 0 | 23 |
Likely Pathogenic | 11 | 1 | 1 | 0 | 13 |
VUS | 1 | 147 | 13 | 6 | 167 |
Likely Benign | 0 | 0 | 153 | 225 | 378 |
Benign | 0 | 0 | 1 | 0 | 1 |
Conflicting | — | 1 | |||
| Total | 22 | 148 | 181 | 231 | 583 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CAD · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
Gene2Phenotype Curations
CAD-related uridine-responsive epileptic encephalopathy
definitiveGene2Phenotype curations · DECIPHER consortium patient cohort (public variants) · deciphergenomics.org
OMIM — Genotype-Phenotype Relationships
1 OMIM entry
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
Comparing Cytarabine + Daunorubicin Therapy Versus Cytarabine + Daunorubicin + Venetoclax Versus Venetoclax + Azacitidine in Younger Patients With Intermediate Risk AML (A MyeloMATCH Treatment Trial)
RECRUITINGA Study Of Deep Learning For Echo Analysis, Tracking, And Evaluation
NOT YET RECRUITINGHigh Protein Diet on Transcriptomic, Metabolomics, Hepatic and Pancreatic Fat Anatomy and Physiology in Asian Indians With Pre-diabetes
NOT YET RECRUITINGCGRP Inhibition, Autonomic Function, and Migraine
RECRUITINGTesting the Use of Combination Therapy in Patients With Persistent Low Level Acute Myeloid Leukemia Following Initial Treatment, The ERASE Study (A MyeloMATCH Treatment Trial)
NOT YET RECRUITINGEpicardial Delivery of XC001 Gene Therapy to Promote Angiogenesis in CAD Patients Undergoing Treatment With CABG
NOT YET RECRUITINGEffect of Glp-1 and Antidiabetic sgLT2 Agents for myoCardial infarcTion and Ultrasensitive Inflammatory Surveillance (GALACTUS Trial)
RECRUITINGClinSeq: A Large-Scale Medical Sequencing Clinical Research Pilot Study
ACTIVE NOT RECRUITINGREGistry of Long-term AnTithrombotic TherApy-1
RECRUITINGHealth Improvements by Understanding the Determinants of Residual Risk in Coronary Artery Disease and New Targets for Prevention and Treatment
RECRUITINGDonor CHIP and Allogeneic HSCT Outcome
RECRUITINGAdipose Tissue and Inflammation in Coronary Heart Disease
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools