Gene | Uniprot | Gene Full Name | Protein Class | pLI | DSI v | DPI v |
---|---|---|---|---|---|---|
HTC2 | hypertrichosis 2 (generalized, congenital) | 0.392 | 0.808 | |||
TMX2-CTNND1 | TMX2-CTNND1 readthrough (NMD candidate) | 0.538 | 0.769 | |||
MS | multiple sclerosis | 0.599 | 0.692 | |||
FRAXE | fragile site, folic acid type, rare, fra(X)(q28) E | 0.636 | 0.462 | |||
MSD | microcephaly with spastic diplegia (Paine syndrome) | 0.674 | 0.654 | |||
CEP290 | O15078 | centrosomal protein 290 | 1.1E-60 | 0.517 | 0.769 | |
SI | P14410 | sucrase-isomaltase | Enzyme | 3.9E-60 | 0.569 | 0.692 |
TET2 | Q6N021 | tet methylcytosine dioxygenase 2 | 4.3E-54 | 0.458 | 0.808 | |
VPS13B | Q7Z7G8 | vacuolar protein sorting 13 homolog B | 2.5E-45 | 0.579 | 0.769 | |
MGAM | O43451 | maltase-glucoamylase | Enzyme | 1.0E-35 | 0.592 | 0.615 |
IFT172 | Q9UG01 | intraflagellar transport 172 | Cellular structure | 3.3E-33 | 0.582 | 0.654 |
HAL | P42357 | histidine ammonia-lyase | 2.5E-23 | 0.641 | 0.538 | |
CDK5RAP2 | Q96SN8 | CDK5 regulatory subunit associated protein 2 | 4.6E-23 | 0.682 | 0.577 | |
ALDH7A1 | P49419 | aldehyde dehydrogenase 7 family member A1 | Enzyme | 1.4E-22 | 0.551 | 0.769 |
SLC26A4 | O43511 | solute carrier family 26 member 4 | Transporter | 9.0E-22 | 0.507 | 0.885 |
MYH3 | P11055 | myosin heavy chain 3 | 6.7E-21 | 0.563 | 0.654 | |
TBXAS1 | P24557 | thromboxane A synthase 1 | 1.4E-20 | 0.619 | 0.615 | |
POMGNT1 | Q8WZA1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) | 1.9E-20 | 0.537 | 0.538 | |
CYP27A1 | Q02318 | cytochrome P450 family 27 subfamily A member 1 | Enzyme | 5.3E-19 | 0.538 | 0.731 |
MANBA | O00462 | mannosidase beta | Enzyme | 1.3E-18 | 0.736 | 0.462 |
WASHC5 | Q12768 | WASH complex subunit 5 | Transporter | 8.3E-18 | 0.572 | 0.615 |
BBS2 | Q9BXC9 | Bardet-Biedl syndrome 2 | 1.0E-17 | 0.565 | 0.654 | |
NPHP1 | O15259 | nephrocystin 1 | 1.2E-17 | 0.572 | 0.731 | |
BBS9 | Q3SYG4 | Bardet-Biedl syndrome 9 | 4.2E-17 | 0.615 | 0.577 | |
POMT1 | Q9Y6A1 | protein O-mannosyltransferase 1 | 4.2E-17 | 0.525 | 0.615 |