Source: ORPHANET

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
MITF O75030 melanocyte inducing transcription factor 0.98 0.499 0.808 9
OTX2 P32243 orthodenticle homeobox 2 Transcription factor 0.92 0.514 0.808 9
PRPH2 P23942 peripherin 2 0.12 0.551 0.500 9
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808 9
SCN5A Q14524 sodium voltage-gated channel alpha subunit 5 Ion channel 0.91 0.513 0.654 9
SOX9 P48436 SRY-box transcription factor 9 1.00 0.419 0.846 9
STAT3 P40763 signal transducer and activator of transcription 3 Nucleic acid binding 1.00 0.320 0.923 9
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 9
CFH P08603 complement factor H 0.86 0.441 0.885 8
CRYBB2 P43320 crystallin beta B2 0.39 0.623 0.462 8
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 8
DICER1 Q9UPY3 dicer 1, ribonuclease III Enzyme 1.00 0.446 0.846 8
FLT3 P36888 fms related receptor tyrosine kinase 3 Kinase 0.61 0.462 0.654 8
GATA1 P15976 GATA binding protein 1 0.95 0.483 0.808 8
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577 8
GLI3 P10071 GLI family zinc finger 3 1.00 0.436 0.846 8
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 8
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808 8
PRNP F7VJQ1 P04156 prion protein 6.3E-04 0.445 0.923 8
RPGR Q92834 retinitis pigmentosa GTPase regulator 1.00 0.536 0.692 8
SCN9A Q15858 sodium voltage-gated channel alpha subunit 9 Ion channel 4.8E-19 0.543 0.615 8
SLC4A1 P02730 solute carrier family 4 member 1 (Diego blood group) Transporter 0.85 0.522 0.731 8
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 8
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 7