Source: ALL

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases Num. SNPs
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808 511 0
TMX2-CTNND1 TMX2-CTNND1 readthrough (NMD candidate) 0.538 0.769 138 9
MS multiple sclerosis 0.599 0.692 95 0
FRAXE fragile site, folic acid type, rare, fra(X)(q28) E 0.636 0.462 50 0
MSD microcephaly with spastic diplegia (Paine syndrome) 0.674 0.654 35 0
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769 196 100
SI P14410 sucrase-isomaltase Enzyme 3.9E-60 0.569 0.692 117 15
TET2 Q6N021 tet methylcytosine dioxygenase 2 4.3E-54 0.458 0.808 362 47
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769 158 309
MGAM O43451 maltase-glucoamylase Enzyme 1.0E-35 0.592 0.615 95 18
IFT172 Q9UG01 intraflagellar transport 172 Cellular structure 3.3E-33 0.582 0.654 123 31
HAL P42357 histidine ammonia-lyase 2.5E-23 0.641 0.538 57 11
CDK5RAP2 Q96SN8 CDK5 regulatory subunit associated protein 2 4.6E-23 0.682 0.577 42 20
ALDH7A1 P49419 aldehyde dehydrogenase 7 family member A1 Enzyme 1.4E-22 0.551 0.769 141 34
SLC26A4 O43511 solute carrier family 26 member 4 Transporter 9.0E-22 0.507 0.885 194 174
MYH3 P11055 myosin heavy chain 3 6.7E-21 0.563 0.654 160 24
TBXAS1 P24557 thromboxane A synthase 1 1.4E-20 0.619 0.615 77 20
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538 188 87
CYP27A1 Q02318 cytochrome P450 family 27 subfamily A member 1 Enzyme 5.3E-19 0.538 0.731 167 78
MANBA O00462 mannosidase beta Enzyme 1.3E-18 0.736 0.462 38 58
WASHC5 Q12768 WASH complex subunit 5 Transporter 8.3E-18 0.572 0.615 129 15
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654 128 60
NPHP1 O15259 nephrocystin 1 1.2E-17 0.572 0.731 126 11
BBS9 Q3SYG4 Bardet-Biedl syndrome 9 4.2E-17 0.615 0.577 82 45