Source: HPO

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769 146
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 146
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769 145
TWNK Q96RR1 twinkle mtDNA helicase Enzyme 3.2E-03 0.516 0.692 145
MYH7 P12883 myosin heavy chain 7 4.2E-16 0.516 0.692 144
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615 143
RET P07949 ret proto-oncogene Kinase 1.00 0.392 0.885 141
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846 140
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
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731 136
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 135
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846 135
GMPPB Q9Y5P6 GDP-mannose pyrophosphorylase B 8.4E-07 0.578 0.538 135
KAT6B Q8WYB5 lysine acetyltransferase 6B Enzyme 1.00 0.525 0.731 134
LARGE1 O95461 LARGE xylosyl- and glucuronyltransferase 1 Enzyme 0.99 0.526 0.654 134
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692 133
FAT4 Q6V0I7 FAT atypical cadherin 4 1.00 0.539 0.808 130
USP9X Q93008 ubiquitin specific peptidase 9 X-linked 1.00 0.502 0.846 130
NOTCH3 Q9UM47 notch receptor 3 0.41 0.435 0.808 129
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885 128
IQSEC2 Q5JU85 IQ motif and Sec7 domain ArfGEF 2 1.00 0.573 0.577 128
RPGRIP1L Q68CZ1 RPGRIP1 like Enzyme modulator 4.1E-31 0.534 0.769 127