Disease: Macrostomia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ATIC P31939 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase Enzyme 3.0E-19 0.576 0.731
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
FBN1 P35555 fibrillin 1 Calcium-binding protein 1.00 0.417 0.846
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
HUWE1 Q7Z6Z7 HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 Enzyme 1.00 0.534 0.769
IRX5 P78411 iroquois homeobox 5 Transcription factor 0.97 0.623 0.846
LIG4 P49917 DNA ligase 4 4.2E-06 0.478 0.846
MBD5 Q9P267 methyl-CpG binding domain protein 5 1.00 0.581 0.808
MECP2 P51608 methyl-CpG binding protein 2 Epigenetic regulator 0.89 0.414 0.846
MED12 Q93074 mediator complex subunit 12 Transcription factor 1.00 0.476 0.769
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
NRXN1 P58400 Q9ULB1 neurexin 1 1.00 0.581 0.692
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
PIGY Q3MUY2 phosphatidylinositol glycan anchor biosynthesis class Y 9.7E-02 0.628 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
POLR1C O15160 RNA polymerase I and III subunit C Enzyme 6.3E-10 0.595 0.615
POLR1D P0DPB5 P0DPB6 RNA polymerase I and III subunit D Enzyme 0.36 0.603 0.692