Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABL1 P00519 ABL proto-oncogene 1, non-receptor tyrosine kinase Kinase 1.00 0.432 0.923
ACADS P16219 acyl-CoA dehydrogenase short chain 2.8E-06 0.663 0.538
AHSG P02765 alpha 2-HS glycoprotein Enzyme modulator 3.2E-10 0.506 0.846
ALG1 Q9BT22 ALG1 chitobiosyldiphosphodolichol beta-mannosyltransferase Enzyme 3.6E-19 0.610 0.808
AP1S2 P56377 adaptor related protein complex 1 subunit sigma 2 Transporter 0.87 0.631 0.615
AP4B1 Q9Y6B7 adaptor related protein complex 4 subunit beta 1 Transporter 1.3E-09 0.631 0.654
AP4S1 Q9Y587 adaptor related protein complex 4 subunit sigma 1 Transporter 1.7E-06 0.674 0.385
ARX Q96QS3 aristaless related homeobox 0.91 0.516 0.654
ASXL3 Q9C0F0 ASXL transcriptional regulator 3 1.00 0.590 0.577
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
B3GALT6 Q96L58 beta-1,3-galactosyltransferase 6 2.3E-02 0.631 0.615
B4GALT7 Q9UBV7 beta-1,4-galactosyltransferase 7 1.1E-04 0.628 0.654
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CHRNA1 P02708 cholinergic receptor nicotinic alpha 1 subunit Ion channel 2.1E-08 0.615 0.577
CHST3 Q7LGC8 carbohydrate sulfotransferase 3 7.2E-03 0.517 0.846
COL12A1 Q99715 collagen type XII alpha 1 chain Receptor 0.97 0.615 0.692
COL2A1 P02458 collagen type II alpha 1 chain 1.00 0.444 0.846
COL6A2 P12110 collagen type VI alpha 2 chain Receptor 6.5E-08 0.599 0.692
COL6A3 P12111 collagen type VI alpha 3 chain Receptor 1.8E-20 0.563 0.769
COQ7 Q99807 coenzyme Q7, hydroxylase 3.8E-06 0.736 0.462
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DDX3X O00571 DEAD-box helicase 3 X-linked 1.00 0.537 0.769
DMD P11532 dystrophin 1.00 0.423 0.923