Disease: Muscle hypotonia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
GAMT Q14353 guanidinoacetate N-methyltransferase 9.5E-03 0.691 0.269
C12orf4 Q9NQ89 chromosome 12 open reading frame 4 1.1E-05 0.691 0.308
GALE Q14376 UDP-galactose-4-epimerase 1.5E-10 0.722 0.385
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
CLN8 Q9UBY8 CLN8 transmembrane ER and ERGIC protein 3.6E-03 0.682 0.423
TCF20 Q9UGU0 transcription factor 20 Transcription factor 1.00 0.644 0.423
RUBCN Q92622 rubicon autophagy regulator 1.4E-13 0.716 0.423
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
KMT5B Q4FZB7 lysine methyltransferase 5B Epigenetic regulator 1.00 0.736 0.423
NAA15 Q9BXJ9 N-alpha-acetyltransferase 15, NatA auxiliary subunit Enzyme 1.00 0.700 0.423
ACADM P11310 acyl-CoA dehydrogenase medium chain Enzyme 2.1E-12 0.638 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
ALDH5A1 P51649 aldehyde dehydrogenase 5 family member A1 Enzyme 3.1E-07 0.619 0.462
LAGE3 Q14657 L antigen family member 3 0.13 0.670 0.462
TRIP12 Q14669 thyroid hormone receptor interactor 12 1.00 0.678 0.462
EMC1 Q8N766 ER membrane protein complex subunit 1 6.7E-26 0.700 0.462
PCDH19 Q8TAB3 protocadherin 19 1.00 0.599 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
WDR81 Q562E7 WD repeat domain 81 6.7E-08 0.670 0.462
PURA Q00577 purine rich element binding protein A Nucleic acid binding 0.94 0.644 0.500