Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AUTS2 Q8WXX7 activator of transcription and developmental regulator AUTS2 1.00 0.569 0.846
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
C12orf57 Q99622 chromosome 12 open reading frame 57 5.2E-05 0.641 0.500
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CACNA1B Q00975 calcium voltage-gated channel subunit alpha1 B Ion channel 1.00 0.650 0.577
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD7 Q9P2D1 chromodomain helicase DNA binding protein 7 1.00 0.441 0.846
CIC Q96RK0 capicua transcriptional repressor 1.00 0.523 0.692
CLCN4 P51793 chloride voltage-gated channel 4 Ion channel 1.00 0.587 0.654
CLCN7 P51798 chloride voltage-gated channel 7 Ion channel 0.27 0.590 0.731
CLTC Q00610 clathrin heavy chain Transporter 1.00 0.558 0.769
CNKSR2 Q8WXI2 connector enhancer of kinase suppressor of Ras 2 1.00 0.628 0.538
CNTNAP2 Q9UHC6 contactin associated protein 2 2.9E-09 0.530 0.846
COL1A1 P02452 collagen type I alpha 1 chain 1.00 0.430 0.808
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COQ8A Q8NI60 coenzyme Q8A Kinase 9.3E-11 0.674 0.385
COX8A P10176 cytochrome c oxidase subunit 8A Enzyme 0.12 0.400 0.846
CPLX1 O14810 complexin 1 0.82 0.576 0.654
CPT1A P50416 carnitine palmitoyltransferase 1A Enzyme 5.1E-09 0.555 0.808
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
CSF1R P07333 colony stimulating factor 1 receptor Kinase 0.13 0.448 0.808
CSTB P04080 cystatin B Enzyme modulator 6.6E-03 0.530 0.692
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
CUL4B Q13620 cullin 4B Enzyme 1.00 0.556 0.769