Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
AARS1 P49588 alanyl-tRNA synthetase 1 Nucleic acid binding 1.8E-08 0.647 0.462
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AGK Q53H12 acylglycerol kinase 6.0E-09 0.650 0.654
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALG13 Q9NP73 ALG13 UDP-N-acetylglucosaminyltransferase subunit 1.00 0.631 0.577
ALG2 Q9H553 ALG2 alpha-1,3/1,6-mannosyltransferase 8.0E-05 0.670 0.423
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
AP3D1 O14617 adaptor related protein complex 3 subunit delta 1 Transporter 0.99 0.678 0.385
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARHGEF2 Q92974 Rho/Rac guanine nucleotide exchange factor 2 1.00 0.502 0.769
ARID1A O14497 AT-rich interaction domain 1A 1.00 0.455 0.846
ARID1B Q8NFD5 AT-rich interaction domain 1B 1.00 0.503 0.846
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARL13B Q3SXY8 ADP ribosylation factor like GTPase 13B 2.7E-09 0.631 0.538
ARL3 P36405 ADP ribosylation factor like GTPase 3 1.4E-03 0.603 0.615
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
ARV1 Q9H2C2 ARV1 homolog, fatty acid homeostasis modulator 3.6E-06 0.691 0.423
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ATAD3A Q9NVI7 ATPase family AAA domain containing 3A Enzyme 4.1E-09 0.628 0.692
ATCAY Q86WG3 ATCAY kinesin light chain interacting caytaxin 0.62 0.805 0.192
ATN1 P54259 atrophin 1 1.00 0.409 0.885