Disease: Developmental Disabilities
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
KMT2B Q9UMN6 lysine methyltransferase 2B 1.00 0.529 0.808
KMT2D O14686 lysine methyltransferase 2D 1.00 0.465 0.808
MAP2K2 P36507 mitogen-activated protein kinase kinase 2 Kinase 0.97 0.534 0.731
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
MID1 O15344 midline 1 0.98 0.621 0.654
MTHFR P42898 methylenetetrahydrofolate reductase 3.2E-10 0.337 0.885
NAA10 P41227 N-alpha-acetyltransferase 10, NatA catalytic subunit Enzyme 0.76 0.535 0.692
NANS Q9NR45 N-acetylneuraminate synthase Enzyme 0.545 0.692
NDN Q99608 necdin, MAGE family member Nucleic acid binding 0.67 0.578 0.654
NF1 P21359 neurofibromin 1 Enzyme modulator 0.90 0.440 0.885
NIPBL Q6KC79 NIPBL cohesin loading factor Nucleic acid binding 1.00 0.521 0.808
NR2F1 P10589 nuclear receptor subfamily 2 group F member 1 Nuclear receptor 0.99 0.656 0.654
NRG1 Q02297 neuregulin 1 Signaling 1.00 0.464 0.885
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
PAX6 P26367 paired box 6 1.00 0.450 0.769
PIGA P37287 phosphatidylinositol glycan anchor biosynthesis class A 0.96 0.575 0.654
PIK3CA P42336 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha Kinase 1.00 0.292 0.923
PIK3CB P42338 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta Kinase 1.00 0.322 0.885
PIK3CD O00329 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta Kinase 1.00 0.319 0.885
PIK3CG P48736 phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma Kinase 1.4E-06 0.320 0.885
PITX2 Q99697 paired like homeodomain 2 0.98 0.489 0.808
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PMP22 Q01453 peripheral myelin protein 22 Cellular structure 0.91 0.471 0.885