Disease: Macrostomia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
ELN P15502 elastin 2.1E-14 0.415 0.885
NALCN Q8IZF0 sodium leak channel, non-selective Ion channel 8.5E-14 0.587 0.615
WDR73 Q6P4I2 WD repeat domain 73 2.8E-09 0.610 0.500
WDR4 P57081 WD repeat domain 4 Nucleic acid binding 1.4E-08 0.653 0.538
PGAP1 Q75T13 post-GPI attachment to proteins inositol deacylase 1 Transporter 3.2E-08 0.650 0.423
RFC2 P35250 replication factor C subunit 2 Enzyme 2.2E-06 0.520 0.769
INSR P06213 insulin receptor Kinase 3.6E-05 0.432 0.846
TBL2 Q9Y4P3 transducin beta like 2 1.8E-04 0.538 0.731
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
MGAT2 Q10469 alpha-1,6-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase Enzyme 3.4E-02 0.650 0.577
PTDSS1 P48651 phosphatidylserine synthase 1 Enzyme 0.15 0.610 0.615
UBE2A P49459 ubiquitin conjugating enzyme E2 A 0.81 0.623 0.692
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
SSR4 P51571 signal sequence receptor subunit 4 0.87 0.705 0.423
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MAP2K1 Q02750 mitogen-activated protein kinase kinase 1 Kinase 0.90 0.439 0.846
GTF2IRD1 Q9UHL9 GTF2I repeat domain containing 1 0.90 0.522 0.769
GTF2I P78347 general transcription factor IIi 1.00 0.500 0.808
SET Q01105 SET nuclear proto-oncogene Enzyme modulator 1.00 0.507 0.808
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
LIMK1 P53667 LIM domain kinase 1 Kinase 1.00 0.488 0.731
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
SALL1 Q9NSC2 spalt like transcription factor 1 Transcription factor 1.00 0.539 0.808
DPF2 Q92785 double PHD fingers 2 Enzyme 1.00 0.604 0.731