Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
MAGEL2 Q9UJ55 MAGE family member L2 Cell adhesion 0.98 0.560 0.654
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
DYNC2H1 Q8NCM8 dynein cytoplasmic 2 heavy chain 1 Enzyme 1.1E-44 0.555 0.731
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
PRMT7 Q9NVM4 protein arginine methyltransferase 7 Epigenetic regulator 5.5E-15 0.674 0.538
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846
INPP5E Q9NRR6 inositol polyphosphate-5-phosphatase E 3.1E-03 0.561 0.615
SMARCAL1 Q9NZC9 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 2.3E-06 0.599 0.654
TMEM87B Q96K49 transmembrane protein 87B 3.7E-13 0.861 0.115
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
EXTL3 O43909 exostosin like glycosyltransferase 3 2.5E-05 0.599 0.731
DCHS1 Q96JQ0 dachsous cadherin-related 1 1.00 0.592 0.731