Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
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
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
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731 153
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731 150
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615 150
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
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769 147
BRCA1 P38398 BRCA1 DNA repair associated Enzyme 9.2E-29 0.367 0.923 147
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808 142
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846 142
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808 141
BRCA2 P51587 BRCA2 DNA repair associated Nucleic acid binding 2.4E-25 0.379 0.846 140
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
SETD5 Q9C0A6 SET domain containing 5 1.00 0.560 0.731 138
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
PEX2 P28328 peroxisomal biogenesis factor 2 2.6E-04 0.582 0.654 137
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692 136