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
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769
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
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808
TULP1 O00294 TUB like protein 1 5.7E-04 0.623 0.462
MYCN P04198 MYCN proto-oncogene, bHLH transcription factor Transcription factor 0.89 0.454 0.808
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577
HOXD13 P35453 homeobox D13 8.6E-03 0.483 0.808
TXNDC15 Q96J42 thioredoxin domain containing 15 9.6E-03 0.736 0.615
MMUT P22033 methylmalonyl-CoA mutase Enzyme 1.7E-22 0.534 0.731