Disease: Hyporeflexia
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
ABHD12 Q8N2K0 abhydrolase domain containing 12 Enzyme 1.9E-05 0.666 0.385
APTX Q7Z2E3 aprataxin Nucleic acid binding 4.0E-10 0.590 0.500
AR P10275 androgen receptor Nuclear receptor 0.99 0.351 0.846
ARSA P15289 arylsulfatase A Enzyme 1.1E-11 0.448 0.923
ATN1 P54259 atrophin 1 1.00 0.409 0.885
ATP6 P00846 ATP synthase F0 subunit 6 Transporter 0.541 0.731
ATXN1 P54253 ataxin 1 0.97 0.534 0.769
ATXN10 Q9UBB4 ataxin 10 3.5E-04 0.650 0.385
ATXN2 Q99700 ataxin 2 Nucleic acid binding 0.85 0.482 0.808
ATXN7 O15265 ataxin 7 0.96 0.581 0.654
B4GALNT1 Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 3.9E-05 0.644 0.615
BEAN1 Q3B7T3 brain expressed associated with NEDD4 1 6.8E-06 0.705 0.385
C19orf12 Q9NSK7 chromosome 19 open reading frame 12 0.34 0.641 0.615
C9orf72 Q96LT7 C9orf72-SMCR8 complex subunit 1.1E-06 0.496 0.769
CACNA1A O00555 calcium voltage-gated channel subunit alpha1 A Ion channel 1.00 0.489 0.769
CHCHD10 Q8WYQ3 coiled-coil-helix-coiled-coil-helix domain containing 10 5.4E-06 0.623 0.462
CHMP2B Q9UQN3 charged multivesicular body protein 2B 4.6E-06 0.543 0.731
COA7 Q96BR5 cytochrome c oxidase assembly factor 7 (putative) 6.0E-02 0.792 0.231
COASY Q13057 Coenzyme A synthase Enzyme 8.1E-10 0.551 0.654
COLQ Q9Y215 collagen like tail subunit of asymmetric acetylcholinesterase 7.9E-14 0.628 0.654
DARS2 Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 9.8E-13 0.638 0.577
DNAJC6 O75061 DnaJ heat shock protein family (Hsp40) member C6 1.00 0.641 0.385
ELOVL4 Q9GZR5 ELOVL fatty acid elongase 4 Enzyme 0.83 0.601 0.577
ERCC2 P18074 ERCC excision repair 2, TFIIH core complex helicase subunit Enzyme 7.1E-20 0.420 0.846
ERCC3 P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 3.4E-11 0.504 0.846