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
ABAT P80404 4-aminobutyrate aminotransferase Enzyme 6.3E-03 0.628 0.538
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 0.462
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
ACADSB P45954 acyl-CoA dehydrogenase short/branched chain 2.7E-11 0.691 0.500
ACAT2 Q9BWD1 acetyl-CoA acetyltransferase 2 Enzyme 5.5E-07 0.686 0.462
ACO2 Q99798 aconitase 2 Enzyme 0.21 0.619 0.654
ACTA1 P68133 actin alpha 1, skeletal muscle Cellular structure 1.1E-06 0.540 0.769
ACTB P60709 actin beta Cellular structure 0.99 0.325 0.923
ACTL6B O94805 actin like 6B Cellular structure 2.8E-04 0.656 0.462
ACY1 Q03154 aminoacylase 1 6.9E-09 0.653 0.577
ADK P55263 adenosine kinase Kinase 3.1E-04 0.584 0.769
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
ADSL P30566 adenylosuccinate lyase Enzyme 8.9E-12 0.631 0.654
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AGO1 Q9UL18 argonaute RISC component 1 1.00 0.656 0.577
AGTPBP1 Q9UPW5 ATP/GTP binding protein 1 Enzyme 0.42 0.650 0.538
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
AHI1 Q8N157 Abelson helper integration site 1 1.1E-25 0.513 0.846
AIFM1 O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 1.00 0.527 0.769
AIMP1 Q12904 aminoacyl tRNA synthetase complex interacting multifunctional protein 1 Enzyme 3.0E-07 0.566 0.769
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
ALDH6A1 Q02252 aldehyde dehydrogenase 6 family member A1 Enzyme 7.6E-10 0.716 0.462