Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASPA P45381 aspartoacylase 4.1E-04 0.564 0.731
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
BBS2 Q9BXC9 Bardet-Biedl syndrome 2 1.0E-17 0.565 0.654
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
CACNA1C Q13936 calcium voltage-gated channel subunit alpha1 C Ion channel 1.00 0.510 0.846
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577
COMT P21964 catechol-O-methyltransferase Enzyme 1.1E-06 0.400 0.923
CTNNB1 P35222 catenin beta 1 1.00 0.303 0.885
DBH P09172 dopamine beta-hydroxylase 3.3E-10 0.511 0.846
DDC P20711 dopa decarboxylase 3.8E-08 0.535 0.769
DEAF1 O75398 DEAF1 transcription factor 3.4E-04 0.575 0.615
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
EEF1A2 Q05639 eukaryotic translation elongation factor 1 alpha 2 Enzyme 1.00 0.554 0.808
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808