Disease: Muscle hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
PKDCC Q504Y2 protein kinase domain containing, cytoplasmic Kinase 2.1E-05 0.821 0.154
METTL23 Q86XA0 methyltransferase like 23 1.3E-07 0.682 0.231
HNRNPR O43390 heterogeneous nuclear ribonucleoprotein R Nucleic acid binding 1.00 0.722 0.308
MN1 Q10571 MN1 proto-oncogene, transcriptional regulator 1.00 0.682 0.385
MSMO1 Q15800 methylsterol monooxygenase 1 Enzyme 9.0E-02 0.729 0.385
WDR45 Q9Y484 WD repeat domain 45 0.99 0.647 0.423
SPNS2 Q8IVW8 sphingolipid transporter 2 Transporter 1.2E-05 0.729 0.423
ZNF335 Q9H4Z2 zinc finger protein 335 Transcription factor 6.9E-07 0.711 0.462
IRF2BPL Q9H1B7 interferon regulatory factor 2 binding protein like 0.84 0.631 0.462
ZBTB18 Q99592 zinc finger and BTB domain containing 18 Transcription factor 1.00 0.666 0.500
ZMYND11 Q15326 zinc finger MYND-type containing 11 1.00 0.647 0.500
CHAMP1 Q96JM3 chromosome alignment maintaining phosphoprotein 1 0.99 0.691 0.500
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
MED13L Q71F56 mediator complex subunit 13L 1.00 0.617 0.538
BBS10 Q8TAM1 Bardet-Biedl syndrome 10 1.7E-12 0.644 0.538
GAA P10253 glucosidase alpha, acid Enzyme 2.8E-18 0.631 0.577
GJA8 P48165 gap junction protein alpha 8 Cell-cell junction 2.2E-03 0.587 0.577
GLE1 Q53GS7 GLE1 RNA export mediator Transporter 2.1E-10 0.628 0.577
SLC16A2 P36021 solute carrier family 16 member 2 Transporter 0.99 0.592 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
PIGQ Q9BRB3 phosphatidylinositol glycan anchor biosynthesis class Q Enzyme 1.4E-06 0.610 0.577
POGZ Q7Z3K3 pogo transposable element derived with ZNF domain Transcription factor 1.00 0.599 0.577
PHF8 Q9UPP1 PHD finger protein 8 1.00 0.631 0.577
PTRH2 Q9Y3E5 peptidyl-tRNA hydrolase 2 6.4E-04 0.641 0.577
CHD8 Q9HCK8 chromodomain helicase DNA binding protein 8 1.00 0.656 0.577