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
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 16
LMNA P02545 lamin A/C 1.00 0.384 0.885 15
PAX6 P26367 paired box 6 1.00 0.450 0.769 15
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 14
NKX2-5 P52952 NK2 homeobox 5 Transcription factor 0.95 0.533 0.692 14
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923 14
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 13
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923 13
HLA-DRB1 P01911 major histocompatibility complex, class II, DR beta 1 Immune response 1.1E-03 0.333 0.923 12
IDH2 P48735 isocitrate dehydrogenase (NADP(+)) 2 0.88 0.434 0.808 12
KRT1 P04264 keratin 1 0.74 0.575 0.654 12
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 11
GDF5 P43026 growth differentiation factor 5 Signaling 0.67 0.511 0.692 11
GNAS O95467 P63092 P84996 Q5JWF2 GNAS complex locus Enzyme modulator 0.68 0.420 0.885 11
HBB P68871 hemoglobin subunit beta 1.2E-09 0.494 0.808 11
KIT P10721 KIT proto-oncogene, receptor tyrosine kinase Kinase 0.98 0.366 0.808 11
WT1 P19544 WT1 transcription factor Nucleic acid binding 1.00 0.422 0.808 11
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808 10
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 10
TP63 Q9H3D4 tumor protein p63 Transcription factor 1.00 0.362 0.769 10
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808 10
ABCB6 Q9NP58 ATP binding cassette subfamily B member 6 (Langereis blood group) Transporter 8.6E-19 0.431 0.885 9
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808 9