Disease: Multiple congenital anomalies
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FOXG1 P55316 forkhead box G1 0.94 0.522 0.692
GUCY2D Q02846 guanylate cyclase 2D, retinal Kinase 6.5E-10 0.570 0.769
KIF7 Q2M1P5 kinesin family member 7 2.3E-22 0.528 0.731
LCA5 Q86VQ0 lebercilin LCA5 4.1E-05 0.674 0.269
RAB23 Q9ULC3 RAB23, member RAS oncogene family 5.6E-03 0.541 0.654
RPS6KA3 P51812 ribosomal protein S6 kinase A3 Kinase 1.00 0.491 0.846
SOX2 P48431 SRY-box transcription factor 2 Transcription factor 0.71 0.405 0.808
TMEM216 Q9P0N5 transmembrane protein 216 1.9E-03 0.544 0.615
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TUBA1A Q71U36 tubulin alpha 1a Cellular structure 0.97 0.597 0.769
TUBB3 Q13509 tubulin beta 3 class III Cellular structure 2.6E-10 0.486 0.808
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500