Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
ELN P15502 elastin 2.1E-14 0.415 0.885 248
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808 219
OFD1 O75665 OFD1 centriole and centriolar satellite protein 0.96 0.510 0.808 213
SUFU Q9UMX1 SUFU negative regulator of hedgehog signaling 1.00 0.493 0.769 189
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654 179
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615 177
FKRP Q9H9S5 fukutin related protein 9.8E-06 0.513 0.731 177
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731 175
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808 175
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731 175
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769 175
SKI P12755 SKI proto-oncogene 1.00 0.503 0.808 159
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615 157
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
FKTN O75072 fukutin 8.7E-07 0.511 0.692 151
GPC4 O75487 glypican 4 0.93 0.547 0.769 148
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692 148
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 146
PTCH1 Q13635 patched 1 1.00 0.398 0.885 143
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654 138
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731 138
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 135