Disease: Macrostomia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
BAZ1B Q9UIG0 bromodomain adjacent to zinc finger domain 1B 1.00 0.530 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731
ELN P15502 elastin 2.1E-14 0.415 0.885
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
KDM6B O15054 lysine demethylase 6B Epigenetic regulator 1.00 0.514 0.808
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
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
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
PACS1 Q6VY07 phosphofurin acidic cluster sorting protein 1 1.00 0.603 0.615
PGAP1 Q75T13 post-GPI attachment to proteins inositol deacylase 1 Transporter 3.2E-08 0.650 0.423
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769