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
ABCC8 Q09428 ATP binding cassette subfamily C member 8 Transporter 8.0E-24 0.474 0.846
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
ADAT3 Q96EY9 adenosine deaminase tRNA specific 3 5.6E-03 0.736 0.385
ADNP Q9H2P0 activity dependent neuroprotector homeobox 1.00 0.561 0.808
AFF3 P51826 AF4/FMR2 family member 3 Transcription factor 1.00 0.623 0.692
AGA P20933 aspartylglucosaminidase Enzyme 4.3E-06 0.570 0.808
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
ALDH18A1 P54886 aldehyde dehydrogenase 18 family member A1 Enzyme 8.1E-04 0.551 0.769
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
AMER1 Q5JTC6 APC membrane recruitment protein 1 0.85 0.570 0.654
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP3B2 Q13367 adaptor related protein complex 3 subunit beta 2 Transporter 0.77 0.691 0.346
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
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
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATP5F1D P30049 ATP synthase F1 subunit delta Transporter 7.4E-02 0.674 0.500
ATP6V0A2 Q9Y487 ATPase H+ transporting V0 subunit a2 Transporter 2.6E-11 0.570 0.692
ATP6V1A P38606 ATPase H+ transporting V1 subunit A Transporter 0.87 0.579 0.615
ATP6V1E1 P36543 ATPase H+ transporting V1 subunit E1 Transporter 0.53 0.610 0.769