Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
CYP1B1 Q16678 cytochrome P450 family 1 subfamily B member 1 Enzyme 2.2E-05 0.457 0.769
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
ELN P15502 elastin 2.1E-14 0.415 0.885
FGFR1 P11362 fibroblast growth factor receptor 1 Kinase 1.00 0.362 0.885
FLNB O75369 filamin B 6.1E-10 0.458 0.923
GJA1 P17302 gap junction protein alpha 1 Cell-cell junction 0.16 0.393 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
IKBKG Q9Y6K9 inhibitor of nuclear factor kappa B kinase regulatory subunit gamma Kinase 8.5E-02 0.493 0.769
JAG1 P78504 jagged canonical Notch ligand 1 1.00 0.429 0.808
KRAS P01116 KRAS proto-oncogene, GTPase Enzyme modulator 7.9E-04 0.320 0.923
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
MMP14 P50281 matrix metallopeptidase 14 Enzyme 1.00 0.447 0.769
NEU1 Q99519 neuraminidase 1 Enzyme 7.3E-05 0.513 0.769
PAX6 P26367 paired box 6 1.00 0.450 0.769
PDGFRB P09619 platelet derived growth factor receptor beta Kinase 0.90 0.416 0.846
PIGN O95427 phosphatidylinositol glycan anchor biosynthesis class N Extracellular structure 2.3E-21 0.558 0.615
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
PORCN Q9H237 porcupine O-acyltransferase Enzyme 1.00 0.545 0.692
RIPK4 P57078 receptor interacting serine/threonine kinase 4 Kinase 4.0E-03 0.565 0.654
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
TWIST2 Q8WVJ9 twist family bHLH transcription factor 2 Transcription factor 0.56 0.518 0.731