Disease: HMN (Hereditary Motor Neuropathy) Proximal Type I
Source: ALL
Gene Uniprot Gene Full Name Protein Class pLI DSI v DPI v
BCL2 P10415 BCL2 apoptosis regulator Signaling 0.56 0.291 0.885
COIL P38432 coilin Nucleic acid binding 9.4E-03 0.617 0.654
DES P17661 desmin 8.8E-03 0.460 0.846
DYNC1H1 Q14204 dynein cytoplasmic 1 heavy chain 1 Enzyme 1.00 0.547 0.769
ERBB4 Q15303 erb-b2 receptor tyrosine kinase 4 Kinase 1.00 0.455 0.846
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
GTF2H1 P32780 general transcription factor IIH subunit 1 Transcription factor 0.99 0.469 0.846
GTF2H2 Q13888 general transcription factor IIH subunit 2 Transcription factor 1.6E-02 0.650 0.577
GTF2H3 Q13889 general transcription factor IIH subunit 3 Nucleic acid binding 3.0E-08 0.656 0.615
GTF2H4 Q92759 general transcription factor IIH subunit 4 Transcription factor 4.2E-07 0.573 0.846
GTF2H5 Q6ZYL4 general transcription factor IIH subunit 5 4.5E-02 0.556 0.769
GUSBP1 Q15486 GUSB pseudogene 1 0.861 0.077
GUSBP14 GUSB pseudogene 14 0.839 0.077
GUSBP3 GUSB pseudogene 3 0.861 0.077
HSPG2 P98160 heparan sulfate proteoglycan 2 Enzyme modulator 1.0E-19 0.438 0.885
IGFALS P35858 insulin like growth factor binding protein acid labile subunit Receptor 5.4E-11 0.511 0.846
IGHMBP2 P38935 immunoglobulin mu DNA binding protein 2 3.0E-16 0.636 0.615
NAIP Q13075 NLR family apoptosis inhibitory protein 1.6E-04 0.636 0.654
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846
SMN1 Q16637 survival of motor neuron 1, telomeric Epigenetic regulator 1.6E-02 0.454 0.769
SMN2 Q16637 survival of motor neuron 2, centromeric 0.10 0.459 0.769
SNRPN P63162 Q9Y675 small nuclear ribonucleoprotein polypeptide N Nucleic acid binding 4.3E-02 0.538 0.731
SNURF P63162 Q9Y675 SNRPN upstream reading frame 0.46 0.623 0.538
SOD1 P00441 superoxide dismutase 1 Enzyme 0.18 0.379 0.962