TABLE 1.
Pathogenicity-related bottleneck genes.
Gene symbol | Entrez | Description | Comment |
EGFR | 13649 | Epidermal growth factor receptor | Receptor tyrosine kinase |
TBC1D10C | 108995 | TBC1 domain family, member 10c | Inhibits Ras and calcineurin |
CD22 | 12483 | CD22 antigen | B-cell/B-cell interactions |
FCRL1 | 229499 | Fc receptor-like 1 | Ig receptor, promotes B-cell activation and differentiation |
ELOVL1 | 54325 | Elongation of very long chain fatty acids | Associated diseases include peroxisomal disease and adrenoleukodystrophy |
IKZF3 | 22780 | IKAROS family zinc finger 3 | B-cell activation and differentiation |
MBD1 | 17190 | Methyl-CpG binding domain protein 1 | Transcriptional repressor of methylated DNA |
TSPAN32 | 27027 | Tetraspanin 32 | Involved with hematopoietic cell function, associated with some cancers |
KIF21B | 16565 | Kinesin family member 21B | ATP-dependent microtubule-based motor protein, associated with inflammatory bowel disease and multiple sclerosis |
SLC10A6 | 75750 | Solute carrier family 10 (sodium/bile acid cotransporter family), member 6 | Lung sulfonated steroid importer |