Source: INFERRED

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885 330
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 327
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 326
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846 307
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 281
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 279
PTCH1 Q13635 patched 1 1.00 0.398 0.885 262
ELN P15502 elastin 2.1E-14 0.415 0.885 257
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 236
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 225
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 0.885 224
TP53 P04637 tumor protein p53 Transcription factor 0.53 0.236 0.962 221
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846 220
GBA P04062 glucosylceramidase beta 1.4E-06 0.500 0.808 220
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 218
ND1 P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 0.522 0.769 214
TRNL1 tRNA 0.534 0.731 213
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 212
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 209
PEX1 O43933 peroxisomal biogenesis factor 1 1.1E-14 0.538 0.769 209
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 209
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 207
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 205
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 202