Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
KCNMA1 Q12791 potassium calcium-activated channel subfamily M alpha 1 Ion channel 1.00 0.518 0.846
KCNMA1-AS1 KCNMA1 antisense RNA 1 0.705 0.654
BBS1 Q8NFJ9 Bardet-Biedl syndrome 1 3.4E-12 0.593 0.692
ZDHHC24 Q6UX98 zinc finger DHHC-type containing 24 4.2E-04 0.722 0.462
COL11A1 P12107 collagen type XI alpha 1 chain 1.00 0.495 0.846
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692
BBS12 Q6ZW61 Bardet-Biedl syndrome 12 2.3E-07 0.674 0.462
CLDN19 Q8N6F1 claudin 19 Cell-cell junction 5.0E-03 0.659 0.423
NDP Q00604 norrin cystine knot growth factor NDP 0.65 0.566 0.692
COL18A1 P39060 collagen type XVIII alpha 1 chain 1.7E-10 0.449 0.808
SLC19A1 P41440 solute carrier family 19 member 1 Transporter 6.5E-06 0.523 0.692
LRP2 P98164 LDL receptor related protein 2 1.00 0.491 0.846