Disease: Congenital Abnormality
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ARFGEF2 Q9Y6D5 ADP ribosylation factor guanine nucleotide exchange factor 2 1.00 0.659 0.462
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
BICD2 Q8TD16 BICD cargo adaptor 2 0.98 0.615 0.731
C5AR1 P21730 complement C5a receptor 1 G-protein coupled receptor 0.40 0.513 0.808
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CTNND1 O60716 catenin delta 1 Cellular structure 1.00 0.500 0.808
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DCX O43602 doublecortin 0.30 0.511 0.769
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EBF3 Q9H4W6 EBF transcription factor 3 1.00 0.595 0.731
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
EPHA4 P54764 EPH receptor A4 Kinase 1.00 0.566 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 0.846
FLNA P21333 filamin A 1.00 0.419 0.846
FMR1 Q06787 FMRP translational regulator 1 Nucleic acid binding 0.65 0.473 0.769
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
HTC2 hypertrichosis 2 (generalized, congenital) 0.392 0.808
IP6K1 Q92551 inositol hexakisphosphate kinase 1 Kinase 0.93 0.792 0.269
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
MTOR P42345 mechanistic target of rapamycin kinase Kinase 1.00 0.343 0.885