Disease: Micrognathism
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTEN P60484 phosphatase and tensin homolog Enzyme 0.26 0.305 0.923
PSMD12 O00232 proteasome 26S subunit, non-ATPase 12 Enzyme modulator 1.00 0.578 0.808
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
POLR3A O14802 RNA polymerase III subunit A Enzyme 1.3E-23 0.538 0.769
PIK3R1 P27986 phosphoinositide-3-kinase regulatory subunit 1 Kinase 1.00 0.477 0.885
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PHIP Q8WWQ0 pleckstrin homology domain interacting protein Epigenetic regulator 1.00 0.595 0.769
PAX6 P26367 paired box 6 1.00 0.450 0.769
P4HB P07237 prolyl 4-hydroxylase subunit beta 1.00 0.488 0.808
NSUN2 Q08J23 NOP2/Sun RNA methyltransferase 2 Enzyme 2.6E-04 0.559 0.846
NSD1 Q96L73 nuclear receptor binding SET domain protein 1 Epigenetic regulator 1.00 0.505 0.769
NRAS P01111 NRAS proto-oncogene, GTPase Enzyme modulator 0.49 0.390 0.808
NOTCH2 Q04721 notch receptor 2 1.00 0.441 0.808
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NDUFB11 Q9NX14 NADH:ubiquinone oxidoreductase subunit B11 Enzyme 0.80 0.566 0.692
MMP2 P08253 matrix metallopeptidase 2 Enzyme 0.84 0.333 0.923
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
LOXL3 P58215 lysyl oxidase like 3 2.7E-13 0.666 0.462
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731