Disease: Generalized hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ALAD P13716 aminolevulinate dehydratase Enzyme 5.6E-05 0.556 0.615
ALPL P05186 alkaline phosphatase, biomineralization associated Enzyme 3.6E-04 0.546 0.769
APC P25054 APC regulator of WNT signaling pathway 1.00 0.373 0.962
ARID2 Q68CP9 AT-rich interaction domain 2 1.00 0.543 0.808
ARMC9 Q7Z3E5 armadillo repeat containing 9 6.2E-17 0.612 0.731
ASXL1 Q8IXJ9 ASXL transcriptional regulator 1 1.3E-14 0.482 0.808
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ATRX P46100 ATRX chromatin remodeler 1.00 0.452 0.808
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
BMPR1A P36894 bone morphogenetic protein receptor type 1A Kinase 0.90 0.522 0.731
BPTF Q12830 bromodomain PHD finger transcription factor 1.00 0.560 0.769
BRAF P15056 B-Raf proto-oncogene, serine/threonine kinase Kinase 1.00 0.319 0.846
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CAMK2B Q13554 calcium/calmodulin dependent protein kinase II beta Kinase 0.74 0.626 0.538
CASR P41180 calcium sensing receptor G-protein coupled receptor 4.7E-02 0.410 0.846
CD96 P40200 CD96 molecule 1.4E-11 0.592 0.692
CDC42 P60953 cell division cycle 42 Enzyme modulator 0.79 0.458 0.846
CDK13 Q14004 cyclin dependent kinase 13 Kinase 0.91 0.606 0.692
CDKL5 O76039 cyclin dependent kinase like 5 Kinase 1.00 0.522 0.692
CHD4 Q14839 chromodomain helicase DNA binding protein 4 1.00 0.593 0.654
CHST14 Q8NCH0 carbohydrate sulfotransferase 14 Enzyme 0.45 0.638 0.654
CLCNKB P51801 chloride voltage-gated channel Kb Ion channel 1.4E-22 0.593 0.692
COL6A1 P12109 collagen type VI alpha 1 chain Receptor 1.00 0.587 0.731
CRBN Q96SW2 cereblon Enzyme 2.9E-04 0.551 0.654
CREBBP Q92793 CREB binding protein 1.00 0.428 0.808