Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
LMNA P02545 lamin A/C 1.00 0.384 0.885 425
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
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
RNU4ATAC RNA, U4atac small nuclear (U12-dependent splicing) 0.556 0.808 167
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731 162
PIEZO2 Q9H5I5 piezo type mechanosensitive ion channel component 2 Ion channel 8.1E-07 0.529 0.769 159
SMC1A Q14683 structural maintenance of chromosomes 1A 1.00 0.509 0.808 157
ERCC6 P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 5.2E-22 0.507 0.808 155
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885 154
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923 154
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692 153
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 145
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846 140
SETBP1 Q9Y6X0 SET binding protein 1 1.00 0.503 0.808 139
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654 138
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731 137
HDAC8 Q9BY41 histone deacetylase 8 Epigenetic regulator 0.98 0.511 0.885 137
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731 137
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 135
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 134
SEMA3E O15041 semaphorin 3E Signaling 8.7E-09 0.515 0.769 134