Disease: Depressed nasal bridge
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
RMRP RNA component of mitochondrial RNA processing endoribonuclease 0.519 0.731
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
B3GLCT Q6Y288 beta 3-glucosyltransferase Enzyme 7.1E-17 0.554 0.731
DPH1 Q9BZG8 diphthamide biosynthesis 1 8.0E-17 0.653 0.538
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
PEPD P12955 peptidase D Enzyme 1.5E-14 0.621 0.769
SMG9 Q9H0W8 SMG9 nonsense mediated mRNA decay factor 3.5E-13 0.729 0.346
TRIP11 Q15643 thyroid hormone receptor interactor 11 1.7E-12 0.595 0.654
IFT81 Q8WYA0 intraflagellar transport 81 9.1E-12 0.700 0.385
FLNB O75369 filamin B 6.1E-10 0.458 0.923
P4HTM Q9NXG6 prolyl 4-hydroxylase, transmembrane 3.9E-09 0.666 0.500
PIGL Q9Y2B2 phosphatidylinositol glycan anchor biosynthesis class L 6.2E-09 0.581 0.731
ABCC9 O60706 ATP binding cassette subfamily C member 9 Transporter 9.4E-09 0.552 0.692
TBCE Q15813 tubulin folding cofactor E Chaperone 1.7E-08 0.575 0.692
SUMF1 Q8NBK3 sulfatase modifying factor 1 2.3E-08 0.641 0.538
FUCA1 P04066 alpha-L-fucosidase 1 2.7E-08 0.623 0.577
B3GAT3 O94766 beta-1,3-glucuronyltransferase 3 Enzyme 2.7E-08 0.621 0.538
KCNQ1 P51787 potassium voltage-gated channel subfamily Q member 1 Ion channel 4.5E-08 0.485 0.769
LARP7 Q4G0J3 La ribonucleoprotein 7, transcriptional regulator Nucleic acid binding 9.3E-08 0.674 0.615
PRKD1 Q15139 protein kinase D1 Kinase 6.6E-07 0.531 0.846
EDAR Q9UNE0 ectodysplasin A receptor 1.3E-06 0.623 0.423
DVL1 O14640 dishevelled segment polarity protein 1 Signaling 3.7E-06 0.531 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
NPR2 P20594 natriuretic peptide receptor 2 Kinase 4.2E-05 0.573 0.615
PEX5 P50542 peroxisomal biogenesis factor 5 Transporter 5.6E-05 0.561 0.731