Disease: Generalized hypotonia
Source: CLINVAR ×
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
VPS13B Q7Z7G8 vacuolar protein sorting 13 homolog B 2.5E-45 0.579 0.769
UBTF P17480 upstream binding transcription factor 1.00 0.705 0.462
TPP1 O14773 tripeptidyl peptidase 1 Enzyme 6.3E-07 0.551 0.808
TMEM67 Q5HYA8 transmembrane protein 67 2.1E-24 0.512 0.769
TANGO2 Q6ICL3 transport and golgi organization 2 homolog 1.5E-04 0.666 0.615
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SYN3 O14994 synapsin III Cellular structure 1.9E-03 0.686 0.462
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SPATA5 Q8NB90 spermatogenesis associated 5 9.1E-20 0.670 0.654
SLC9A6 Q92581 solute carrier family 9 member A6 Transporter 1.00 0.516 0.846
SLC19A3 Q9BZV2 solute carrier family 19 member 3 Transporter 0.10 0.610 0.692
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN1A-AS1 SCN1A and SCN9A antisense RNA 1 0.636 0.346
SCN1A P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 1.00 0.477 0.808
SATB2 Q9UPW6 SATB homeobox 2 Transcription factor 1.00 0.503 0.769
PPT1 P50897 palmitoyl-protein thioesterase 1 Enzyme 4.9E-05 0.593 0.808
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
PLA2G6 O60733 phospholipase A2 group VI Enzyme modulator 2.5E-10 0.476 0.846
PGK1 P00558 phosphoglycerate kinase 1 Kinase 0.77 0.542 0.769
PEX6 Q13608 peroxisomal biogenesis factor 6 6.3E-06 0.547 0.731
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538
PDE10A Q9Y233 phosphodiesterase 10A 1.00 0.619 0.615
MPP4 Q96JB8 membrane palmitoylated protein 4 Enzyme 3.4E-18 0.792 0.308
MORC2 Q9Y6X9 MORC family CW-type zinc finger 2 1.00 0.626 0.462
MIPEP Q99797 mitochondrial intermediate peptidase Enzyme 1.6E-15 0.666 0.615