Table 2.
NCBI symbol | Full name | dGene class | Patients affected |
---|---|---|---|
CASR | Calcium-sensing receptor | G protein-coupled receptor | 3 |
GPR112 | G protein-coupled receptor 112 | G protein-coupled receptor | 3 |
AGTR2 | Angiotensin II receptor, type 2 | G protein-coupled receptor | 2 |
MC5R | Melanocortin 5 receptor | G protein-coupled receptor | 2 |
OR2L2 | Olfactory receptor, family 2, subfamily L, member 2 | G protein-coupled receptor | 2 |
OR51B5 | Olfactory receptor, family 51, subfamily B, member 5 | G protein-coupled receptor | 2 |
PIK3CA | Phosphoinositide-3-kinase, catalytic, alpha polypeptide | PI3K | 37 |
BIRC6 | Baculoviral IAP repeat containing 6 | Proteinase inhibitor | 4 |
CPAMD8 | C3 and PZP-like, α-2-macroglobulin domain containing 8 | Proteinase inhibitor | 3 |
COL28A1 | Collagen, type XXVIII, alpha 1 | Proteinase inhibitor | 2 |
COL6A3 | Collagen, type VI, alpha 3 | Proteinase inhibitor | 2 |
AGBL1 | ATP/GTP binding protein-like 1 | Protease | 2 |
CPVL | Carboxypeptidase, vitellogenic-like | Protease | 2 |
PCSK5 | Proprotein convertase subtilisin/kexin type 5 | Protease | 2 |
RELN | Reelin | Protease | 2 |
SENP7 | SUMO1/sentrin specific peptidase 7 | Protease | 2 |
USP9X | Ubiquitin specific peptidase 9, X-linked | Protease | 2 |
PTPRF | Protein tyrosine phosphatase, receptor type, F | Phosphatase | 2 |
PTPRU | Protein tyrosine phosphatase, receptor type, U | Phosphatase | 2 |
SSH3 | Slingshot homolog 3 (Drosophila) | Phosohatase | 2 |
MAP3K1 | Mitogen-activated protein kinase kinase kinase 1 | Serine theonine kinase | 9 |
TTN | Titin | Serine theonine kinase | 6 |
ATR | Ataxia telangiectasia and Rad3 related | Serine theonine kinase | 5 |
OBSCN | Obscurin | Serine theonine kinase | 3 |
SMG1 | Smg-1 homolog | Serine theonine kinase | 3 |
ALPK2 | Alpha-kinase 2 | Serine theonine kinase | 2 |
BRAF | V-raf murine sarcoma viral oncogene homolog B1 | Serine theonine kinase | 2 |
DCLK3 | Doublecortin-like kinase 3 | Serine theonine kinase | 2 |
LRRK2 | Leucine-rich repeat kinase 2 | Serine theonine kinase | 2 |
MAP2K4 | Mitogen-activated protein kinase kinase 4 | Serine theonine kinase | 2 |
TAF1L | TATA box binding protein (TBP)-associated factor | Serine theonine kinase | 2 |
TBK1 | TANK-binding kinase 1 | Serine theonine kinase | 2 |
ULK4 | Unc-51-like kinase 4 | Serine theonine kinase | 2 |
INSRR | Insulin receptor-related receptor | Tyrosine kinase | 3 |
KIT | C-kit | Tyrosine kinase | 2 |
PDGFRA | Platelet-derived growth factor receptor | Tyrosine kinase | 2 |
TEX14 | Testis expressed 14 | Tyrosine kinase | 2 |
NCBI, National Center for Biotechnology Information.