Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
TRNK tRNA 0.608 0.577
FIG4 Q92562 FIG4 phosphoinositide 5-phosphatase 2.3E-34 0.551 0.731
RYR1 P21817 ryanodine receptor 1 Ion channel 1.6E-29 0.489 0.808
VPS13A Q96RL7 vacuolar protein sorting 13 homolog A 9.3E-22 0.650 0.577
ELP1 O95163 elongator complex protein 1 Enzyme modulator 2.1E-21 0.579 0.769
POMGNT1 Q8WZA1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) 1.9E-20 0.537 0.538
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
POMT1 Q9Y6A1 protein O-mannosyltransferase 1 4.2E-17 0.525 0.615
TRPV4 Q9HBA0 transient receptor potential cation channel subfamily V member 4 Ion channel 2.2E-16 0.457 0.808
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
KIAA0586 Q9BVV6 KIAA0586 5.1E-16 0.565 0.731
PNPLA6 Q8IY17 patatin like phospholipase domain containing 6 Enzyme 1.9E-13 0.533 0.769
FLII Q13045 FLII actin remodeling protein 5.5E-12 0.520 0.808
POMT2 Q9UKY4 protein O-mannosyltransferase 2 9.4E-12 0.544 0.615
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
MPV17 P39210 mitochondrial inner membrane protein MPV17 Receptor 9.7E-11 0.595 0.577
KBTBD13 C9JR72 kelch repeat and BTB domain containing 13 2.3E-10 0.729 0.385
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
MSTO1 Q9BUK6 misato mitochondrial distribution and morphology regulator 1 1.6E-09 0.582 0.692
POLG P54098 DNA polymerase gamma, catalytic subunit Enzyme 2.1E-09 0.457 0.846
GDAP1 Q8TB36 ganglioside induced differentiation associated protein 1 3.2E-08 0.612 0.538
WDR81 Q562E7 WD repeat domain 81 6.7E-08 0.670 0.462
B3GALNT2 Q8NCR0 beta-1,3-N-acetylgalactosaminyltransferase 2 Enzyme 2.8E-07 0.578 0.577
FKTN O75072 fukutin 8.7E-07 0.511 0.692
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769