Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BCL11B Q9C0K0 BAF chromatin remodeling complex subunit BCL11B Transcription factor 0.99 0.568 0.731
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BDNF P23560 brain derived neurotrophic factor Signaling 0.66 0.345 0.923
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK2A Q9UQM7 calcium/calmodulin dependent protein kinase II alpha Kinase 1.00 0.612 0.538
CC2D2A Q9P2K1 coiled-coil and C2 domain containing 2A 1.7E-27 0.532 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CKAP2L Q8IYA6 cytoskeleton associated protein 2 like 1.6E-04 0.666 0.577
CLIP2 Q9UDT6 CAP-Gly domain containing linker protein 2 Cellular structure 1.00 0.529 0.808
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNTNAP1 P78357 contactin associated protein 1 3.4E-05 0.554 0.577
COL4A1 P02462 collagen type IV alpha 1 chain 1.00 0.484 0.731
COL4A2 P08572 collagen type IV alpha 2 chain 3.6E-15 0.563 0.654
COX10 Q12887 cytochrome c oxidase assembly factor heme A:farnesyltransferase COX10 Enzyme 8.4E-02 0.623 0.654
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DCX O43602 doublecortin 0.30 0.511 0.769
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DNM1 Q05193 dynamin 1 Enzyme modulator 1.00 0.595 0.692
ECHS1 P30084 enoyl-CoA hydratase, short chain 1 Enzyme 8.8E-04 0.601 0.654
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808