Human | KIF6 | 221458 | kinesin family member 6 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | SPRED1 | 161742 | sprouty-related, EVH1 domain containing 1 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | PTPRVP | 148713 | protein tyrosine phosphatase, receptor type, V, pseudogene | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | UHMK1 | 127933 | U2AF homology motif (UHM) kinase 1 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | NIPA1 | 123606 | non imprinted in Prader-Willi/Angelman syndrome 1 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | Distal lower limb muscle atrophy due to peripheral neuropathy Distal lower limb muscle weakness due to peripheral neuropathy |
Human | ZFYVE27 | 118813 | zinc finger, FYVE domain containing 27 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | FAM126A | 84668 | family with sequence similarity 126, member A | |
Human | INHBE | 83729 | inhibin, beta E | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | SBF2 | 81846 | SET binding factor 2 | Distal limb muscle weakness due to peripheral neuropathy Distal limb muscle atrophy due to peripheral neuropathy |
Human | AMN | 81693 | amnion associated transmembrane protein | |
Human | MAGED4B | 81557 | melanoma antigen family D, 4B | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | SPG11 | 80208 | spastic paraplegia 11 (autosomal recessive) | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | SH3TC2 | 79628 | SH3 domain and tetratricopeptide repeats 2 | Distal lower limb muscle atrophy due to peripheral neuropathy a founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes Distal lower limb muscle weakness due to peripheral neuropathy |
Human | GNPTAB | 79158 | N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | CXCL16 | 58191 | chemokine (C-X-C motif) ligand 16 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | PRX | 57716 | periaxin | Distal limb muscle atrophy due to peripheral neuropathy Distal limb muscle weakness due to peripheral neuropathy |
Human | GJC2 | 57165 | gap junction protein, gamma 2, 47kDa | Peripheral neuropathy, mild |
Human | AKR1B10 | 57016 | aldo-keto reductase family 1, member B10 (aldose reductase) | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | RETN | 56729 | resistin | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | UTP6 | 55813 | UTP6, small subunit (SSU) processome component, homolog (yeast) | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | ADAP2 | 55803 | ArfGAP with dual PH domains 2 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | |
Human | SOX6 | 55553 | SRY (sex determining region Y)-box 6 | INFERRED, Score=800, UMLKSK CUI: C0031117 |
Human | APTX | 54840 | aprataxin | Distal muscular atrophy due to peripheral neuropathy |