Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALG9 Q9H6U8 ALG9 alpha-1,2-mannosyltransferase Enzyme 6.4E-04 0.644 0.654
ATP7A Q04656 ATPase copper transporting alpha Transporter 1.00 0.494 0.769
ATR Q13535 ATR serine/threonine kinase Kinase 3.5E-09 0.456 0.923
COL3A1 P02461 collagen type III alpha 1 chain 1.00 0.477 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
ERF P50548 ETS2 repressor factor Transcription factor 0.99 0.572 0.654
FBN2 P35556 fibrillin 2 Calcium-binding protein 1.00 0.505 0.808
FGFR2 P21802 fibroblast growth factor receptor 2 Kinase 1.00 0.380 0.808
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FGFRL1 Q8N441 fibroblast growth factor receptor like 1 Enzyme 1.2E-02 0.588 0.615
LETM1 O95202 leucine zipper and EF-hand containing transmembrane protein 1 Transporter 1.2E-06 0.545 0.692
LMNA P02545 lamin A/C 1.00 0.384 0.885
LRP4 O75096 LDL receptor related protein 4 1.4E-06 0.568 0.692
MBTPS2 O43462 membrane bound transcription factor peptidase, site 2 Enzyme 1.00 0.513 0.769
NSD2 O96028 nuclear receptor binding SET domain protein 2 Epigenetic regulator 1.00 0.507 0.769
PTF1A Q7RTS3 pancreas associated transcription factor 1a 0.17 0.601 0.692
RUNX2 Q13950 RUNX family transcription factor 2 Transcription factor 0.95 0.437 0.846
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
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
THRB P10828 thyroid hormone receptor beta Nuclear receptor 1.00 0.554 0.769
TWIST1 Q15672 twist family bHLH transcription factor 1 Transcription factor 0.34 0.397 0.846