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 0.474 0.724 21
HBB P68871 hemoglobin subunit beta 1.4E-08 0.513 0.793 17
LMNA P02545 lamin A/C 1.00 0.406 0.724 17
TP53 P04637 tumor protein p53 transcription factor 0.17 0.251 0.897 17
FGFR3 P22607 fibroblast growth factor receptor 3 1.8E-05 0.417 0.759 16
PTEN P60484 phosphatase and tensin homolog hydrolase; phosphatase 0.82 0.334 0.828 15
FGFR1 P11362 fibroblast growth factor receptor 1 1.00 0.388 0.759 14
NKX2-5 P52952 NK2 homeobox 5 nucleic acid binding; transcription factor 0.94 0.543 0.621 14
PAX6 P26367 paired box 6 1.00 0.479 0.655 14
KRAS P01116 KRAS proto-oncogene, GTPase enzyme modulator 9.0E-04 0.350 0.724 13
FBN1 P35555 fibrillin 1 calcium-binding protein; cell adhesion molecule; extracellular matrix protein; signaling molecule 1.00 0.469 0.690 12
HLA-DRB1 P01911 P01912 P04229 P13760 P13761 P20039 Q29974 Q30134 Q30167 Q5Y7A7 Q95IE3 Q9GIY3 Q9TQE0 major histocompatibility complex, class II, DR beta 1 defense/immunity protein 1.0E-03 0.347 0.897 12
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2, mitochondrial 0.87 0.469 0.655 12
KIT P10721 KIT proto-oncogene receptor tyrosine kinase 0.99 0.394 0.759 12
COL7A1 Q02388 collagen type VII alpha 1 chain receptor 8.9E-42 0.552 0.586 11
FLNA P21333 filamin A 1.00 0.456 0.793 11
GDF5 P43026 growth differentiation factor 5 signaling molecule 0.68 0.557 0.517 11
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus enzyme modulator 0.71 0.443 0.793 11
SHH Q15465 sonic hedgehog 0.99 0.434 0.724 11
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 transporter 2.6E-16 0.519 0.759 11
CDKN2A P42771 Q8N726 cyclin dependent kinase inhibitor 2A 0.38 0.321 0.828 10
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.472 0.724 10
FGFR2 P21802 fibroblast growth factor receptor 2 1.00 0.398 0.759 10
GLI3 P10071 GLI family zinc finger 3 1.00 0.485 0.724 10