Disease: Muscle hypotonia
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
AIPL1 Q9NZN9 aryl hydrocarbon receptor interacting protein like 1 Chaperone 1.2E-05 0.644 0.346
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPM Q8IZT6 abnormal spindle microtubule assembly 3.4E-49 0.526 0.769
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CCDC22 O60826 coiled-coil domain containing 22 1.00 0.595 0.692
CEP290 O15078 centrosomal protein 290 1.1E-60 0.517 0.769
COX1 P00395 cytochrome c oxidase subunit I Enzyme 0.441 0.885
COX2 P00403 cytochrome c oxidase subunit II Enzyme 0.352 0.962
COX3 P00414 cytochrome c oxidase III Enzyme 0.546 0.808
CPLANE1 Q9H799 ciliogenesis and planar polarity effector 1 5.9E-36 0.575 0.692
CRB1 P82279 crumbs cell polarity complex component 1 5.6E-16 0.570 0.654
CRX O43186 cone-rod homeobox Transcription factor 0.51 0.565 0.692
DAG1 Q14118 dystroglycan 1 Receptor 0.98 0.498 0.808
DCX O43602 doublecortin 0.30 0.511 0.769
DMD P11532 dystrophin 1.00 0.423 0.923
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
EIF2AK3 Q9NZJ5 eukaryotic translation initiation factor 2 alpha kinase 3 Kinase 2.8E-03 0.501 0.808
EP300 Q09472 E1A binding protein p300 1.00 0.459 0.846
FGFR3 P22607 fibroblast growth factor receptor 3 Kinase 1.6E-05 0.391 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
GDF6 Q6KF10 growth differentiation factor 6 0.99 0.587 0.500