Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4B1-AS1 AP4B1 antisense RNA 1 0.805 0.231
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BTD P43251 biotinidase Enzyme 1.5E-07 0.628 0.654
CAMKMT Q7Z624 calmodulin-lysine N-methyltransferase 1.4E-15 0.510 0.808
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
CLPB Q9H078 caseinolytic mitochondrial matrix peptidase chaperone subunit B 5.0E-04 0.631 0.654
CYP27B1 O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 1.9E-07 0.502 0.769
CYP2R1 Q6VVX0 cytochrome P450 family 2 subfamily R member 1 3.8E-10 0.563 0.731
DGUOK Q16854 deoxyguanosine kinase Kinase 3.7E-07 0.593 0.500
DPYD Q12882 dihydropyrimidine dehydrogenase Enzyme 3.4E-22 0.493 0.846
DUOXA2 Q1HG44 dual oxidase maturation factor 2 1.3E-15 0.700 0.423
EHMT1 Q9H9B1 euchromatic histone lysine methyltransferase 1 Epigenetic regulator 1.00 0.460 0.808
EIF2S3 P41091 eukaryotic translation initiation factor 2 subunit gamma Enzyme 0.96 0.604 0.731
ELP1 O95163 elongator complex protein 1 Enzyme modulator 2.1E-21 0.579 0.769
EPG5 Q9HCE0 ectopic P-granules autophagy protein 5 homolog 1.4E-13 0.623 0.769
EXOSC3 Q9NQT5 exosome component 3 Enzyme 2.4E-04 0.610 0.692