Disease: Dysmorphic features
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
SON P18583 SON DNA binding protein 1.00 0.565 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
SLC35A2 P78381 solute carrier family 35 member A2 Transporter 0.72 0.525 0.808
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
THOC6 Q86W42 THO complex 6 4.8E-04 0.705 0.577
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
OTUD6B Q8N6M0 OTU deubiquitinase 6B Enzyme 1.3E-07 0.659 0.538
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577