Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
FLNA P21333 filamin A 1.00 0.419 0.846 298
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846 254
ELN P15502 elastin 2.1E-14 0.415 0.885 248
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846 242
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846 238
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846 214
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846 206
TBX1 O43435 T-box transcription factor 1 Transcription factor 0.84 0.433 0.808 199
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769 198
HRAS P01112 HRas proto-oncogene, GTPase Enzyme modulator 8.0E-02 0.378 0.885 176
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731 175
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769 175
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
DHCR7 Q9UBM7 7-dehydrocholesterol reductase Enzyme 3.9E-13 0.500 0.846 158
GP1BB P13224 glycoprotein Ib platelet subunit beta 0.51 0.524 0.769 158
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
RRM2B Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 2.4E-03 0.527 0.769 153