Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
FANCI Q9NVI1 FA complementation group I 8.9E-37 0.543 0.731
RECQL4 O94761 RecQ like helicase 4 Enzyme 3.3E-35 0.496 0.808
CSPP1 Q1MSJ5 centrosome and spindle pole associated protein 1 3.3E-29 0.544 0.769
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
WDR35 Q9P2L0 WD repeat domain 35 1.0E-22 0.525 0.692
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
COL9A1 P20849 collagen type IX alpha 1 chain 3.1E-19 0.566 0.731
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
LOXL3 P58215 lysyl oxidase like 3 2.7E-13 0.666 0.462
COL9A3 Q14050 collagen type IX alpha 3 chain 3.3E-12 0.569 0.769
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
IFT43 Q96FT9 intraflagellar transport 43 1.8E-11 0.617 0.577
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
COL9A2 Q14055 collagen type IX alpha 2 chain 1.0E-08 0.572 0.769
SLC2A10 O95528 solute carrier family 2 member 10 Transporter 1.6E-08 0.550 0.615
VARS1 P26640 valyl-tRNA synthetase 1 1.8E-08 0.711 0.500
UBE3B Q7Z3V4 ubiquitin protein ligase E3B 4.2E-08 0.590 0.692