Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
WWOX Q9NZC7 WW domain containing oxidoreductase Enzyme 1.2E-15 0.453 0.808
UBA5 Q9GZZ9 ubiquitin like modifier activating enzyme 5 Enzyme 2.5E-04 0.582 0.731
YWHAG P61981 tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma Chaperone 0.96 0.621 0.500
TRAK1 Q9UPV9 trafficking kinesin protein 1 Transporter 3.7E-04 0.674 0.423
SZT2 Q5T011 SZT2 subunit of KICSTOR complex 2.3E-14 0.670 0.423
STXBP1 P61764 syntaxin binding protein 1 Transporter 1.00 0.532 0.692
SYNJ1 O43426 synaptojanin 1 Enzyme 0.43 0.576 0.577
SYNGAP1 Q96PV0 synaptic Ras GTPase activating protein 1 Enzyme modulator 1.00 0.584 0.577
SLC13A5 Q86YT5 solute carrier family 13 member 5 Transporter 5.1E-04 0.608 0.577
SLC1A2 P43004 solute carrier family 1 member 2 Transporter 0.71 0.511 0.731
SCN8A Q9UQD0 sodium voltage-gated channel alpha subunit 8 Ion channel 1.00 0.510 0.731
SCN3A Q9NY46 sodium voltage-gated channel alpha subunit 3 Ion channel 1.00 0.617 0.538
PPP3CA Q08209 protein phosphatase 3 catalytic subunit alpha 1.00 0.568 0.769
POMK Q9H5K3 protein O-mannose kinase Kinase 1.9E-08 0.590 0.500
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
PARS2 Q7L3T8 prolyl-tRNA synthetase 2, mitochondrial Enzyme 4.1E-03 0.644 0.423
KCNB1 Q14721 potassium voltage-gated channel subfamily B member 1 Ion channel 1.00 0.650 0.462
KCNA2 P16389 potassium voltage-gated channel subfamily A member 2 Ion channel 0.91 0.612 0.577
PHYH O14832 phytanoyl-CoA 2-hydroxylase 2.4E-06 0.659 0.577
PEX7 O00628 peroxisomal biogenesis factor 7 8.2E-13 0.603 0.615
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
NUS1 Q96E22 NUS1 dehydrodolichyl diphosphate synthase subunit 0.98 0.619 0.615
NTRK2 Q16620 neurotrophic receptor tyrosine kinase 2 Kinase 1.00 0.479 0.808
NECAP1 Q8NC96 NECAP endocytosis associated 1 0.13 0.691 0.346
LMNA P02545 lamin A/C 1.00 0.384 0.885