2q21.1 copy number variation syndrome
Pathways in the 2q21.1 copy number variation syndrome SuperPath
| # | Name | Source | Genes |
|---|---|---|---|
| 1 | 2q21.1 copy number variation syndrome | WikiPathways |
Ordered by rank within the SuperPath, via the multiplicity of each gene in the constituent pathways
| # | Symbol | Description | Category | # Related Pathways |
|---|---|---|---|---|
| 1 | TUBA3D | Tubulin Alpha 3d | Protein Coding | 1 |
| 2 | CCDC74A | Coiled-Coil Domain Containing 74A | Protein Coding | 1 |
| 3 | FAM168B | Family With Sequence Similarity 168 Member B | Protein Coding | 1 |
| 4 | MZT2A | Mitotic Spindle Organizing Protein 2A | Protein Coding | 1 |
| 5 | PLEKHB2 | Pleckstrin Homology Domain Containing B2 | Protein Coding | 1 |
| 6 | ARHGEF4 | Rho Guanine Nucleotide Exchange Factor 4 | Protein Coding | 1 |
| 7 | POTEE | POTE Ankyrin Domain Family Member E | Protein Coding | 1 |
| 8 | GPR148 | G Protein-Coupled Receptor 148 | Protein Coding | 1 |
| 9 | AMER3 | APC Membrane Recruitment Protein 3 | Protein Coding | 1 |
Disorders associated with 2q21.1 copy number variation syndrome SuperPath
according to GeneCards Suite gene sharing
| # | Disorder | Type | Genes | Score |
|---|---|---|---|---|
| 1 | Keratoconus 9 | Enrichment | MZT2A, TUBA3D | 6.41 |
| 2 | Tracheoesophageal fistula with or without esophageal atresia | Enrichment | AMER3 | 2.22 |
| 3 | Isolated tracheo-esophageal fistula | Enrichment | AMER3 | 2.18 |
| 4 | Esophageal atresia/tracheoesophageal fistula | Enrichment | AMER3 | 1.90 |
