Disease: Dysmorphic features
Source: INFERRED ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PTPN11 Q06124 protein tyrosine phosphatase non-receptor type 11 1.00 0.385 0.923
KMT2A Q03164 lysine methyltransferase 2A 1.00 0.410 0.885
RAF1 P04049 Raf-1 proto-oncogene, serine/threonine kinase Kinase 0.85 0.418 0.885
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
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
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
DYRK1A Q13627 dual specificity tyrosine phosphorylation regulated kinase 1A Kinase 1.00 0.533 0.769
PMM2 O15305 phosphomannomutase 2 Enzyme 1.4E-17 0.535 0.769
COL7A1 Q02388 collagen type VII alpha 1 chain Receptor 2.4E-40 0.545 0.808
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
ANKRD11 Q6UB99 ankyrin repeat domain 11 1.00 0.556 0.808
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
SON P18583 SON DNA binding protein 1.00 0.565 0.769
SURF1 Q15526 SURF1 cytochrome c oxidase assembly factor Enzyme 1.6E-13 0.578 0.654
SPART Q8N0X7 spartin 3.0E-07 0.588 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
SHOC2 Q9UQ13 SHOC2 leucine rich repeat scaffold protein 1.00 0.593 0.769
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
TUBB P07437 tubulin beta class I Cellular structure 0.98 0.603 0.692
SRD5A3 Q9H8P0 steroid 5 alpha-reductase 3 2.5E-04 0.604 0.692
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
MAN1B1 Q9UKM7 mannosidase alpha class 1B member 1 Chaperone 1.2E-08 0.606 0.577