Source: ORPHANET

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846 21
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 13
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 9
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 8
DICER1 Q9UPY3 dicer 1, ribonuclease III Enzyme 1.00 0.446 0.846 8
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808 7
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731 7
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923 7
PTCH1 Q13635 patched 1 1.00 0.398 0.885 7
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 7
JMJD1C Q15652 jumonji domain containing 1C 1.00 0.517 0.769 7
COL1A2 P08123 collagen type I alpha 2 chain 1.00 0.486 0.846 6
FLNA P21333 filamin A 1.00 0.419 0.846 6
PDGFRA P16234 platelet derived growth factor receptor alpha Kinase 1.00 0.415 0.808 6
RREB1 Q92766 ras responsive element binding protein 1 1.00 0.500 0.808 6
HIRA P54198 histone cell cycle regulator Nucleic acid binding 1.00 0.537 0.808 6
SEC24C P53992 SEC24 homolog C, COPII coat complex component Transporter 1.00 0.543 0.808 6
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 5
NOTCH1 P46531 notch receptor 1 1.00 0.369 0.885 5
SCN2A Q99250 sodium voltage-gated channel alpha subunit 2 Ion channel 1.00 0.518 0.731 5
DMD P11532 dystrophin 1.00 0.423 0.923 4
NF2 P35240 neurofibromin 2 1.00 0.468 0.885 4
RB1 P06400 RB transcriptional corepressor 1 Nucleic acid binding 1.00 0.444 0.885 4
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 4