Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
NUDT2 P50583 nudix hydrolase 2 Enzyme 5.7E-03 0.780 0.154
PRUNE1 Q86TP1 prune exopolyphosphatase 1 9.1E-03 0.678 0.308
BRPF1 P55201 bromodomain and PHD finger containing 1 1.00 0.686 0.385
PRR12 Q9ULL5 proline rich 12 1.00 0.716 0.385
PTCHD1 Q96NR3 patched domain containing 1 Receptor 0.98 0.678 0.385
NEXMIF Q5QGS0 neurite extension and migration factor 1.00 0.659 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
SEPSECS Q9HD40 Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase 1.6E-08 0.656 0.423
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
HECW2 Q9P2P5 HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 Enzyme 1.00 0.705 0.423
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
HNRNPH2 P55795 heterogeneous nuclear ribonucleoprotein H2 Nucleic acid binding 0.95 0.691 0.462
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNQ3 O43525 potassium voltage-gated channel subfamily Q member 3 Ion channel 0.80 0.604 0.462
PPP2R5D Q14738 protein phosphatase 2 regulatory subunit B'delta Enzyme 1.00 0.722 0.462
GNPAT O15228 glyceronephosphate O-acyltransferase 0.30 0.663 0.462
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
STRADA Q7RTN6 STE20 related adaptor alpha Kinase 4.5E-06 0.711 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
INTS1 Q8N201 integrator complex subunit 1 7.1E-11 0.666 0.500
AHDC1 Q5TGY3 AT-hook DNA binding motif containing 1 1.00 0.700 0.500
GRM7 Q14831 glutamate metabotropic receptor 7 G-protein coupled receptor 1.00 0.628 0.538
SLC6A1 P30531 solute carrier family 6 member 1 Transporter 1.00 0.592 0.538