Human | PARK12 | 677662 | Parkinson disease 12 (susceptibility) | |
Human | PARK10 | 170534 | Parkinson disease 10 (susceptibility) | |
Human | FGD4 | 121512 | FYVE, RhoGEF and PH domain containing 4 | |
Human | SBF2 | 81846 | SET binding factor 2 | |
Human | WNK1 | 65125 | WNK lysine deficient protein kinase 1 | |
Human | MTMR14 | 64419 | myotubularin related protein 14 | |
Human | PRX | 57716 | periaxin | |
Human | PLEKHG5 | 57449 | pleckstrin homology domain containing, family G (with RhoGef domain) member 5 | |
Human | C10orf2 | 56652 | chromosome 10 open reading frame 2 | |
Human | ALG1 | 56052 | ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase | |
Human | PEX26 | 55670 | peroxisomal biogenesis factor 26 | Hyporeflexia or areflexia |
Human | APTX | 54840 | aprataxin | A 14 year old girl presented with severe generalized dystonia, ataxia, ocular motor apraxia, and areflexia. and homozygous for an insertion mutation of aprataxin (APTX), 689 ins T |
Human | GDAP1 | 54332 | ganglioside induced differentiation associated protein 1 | |
Human | ALG6 | 29929 | ALG6, alpha-1,3-glucosyltransferase | |
Human | HSPB8 | 26353 | heat shock 22kDa protein 8 | |
Human | FGF20 | 26281 | fibroblast growth factor 20 | |
Human | PLEKHG4 | 25894 | pleckstrin homology domain containing, family G (with RhoGef domain) member 4 | |
Human | KIF1B | 23095 | kinesin family member 1B | |
Human | SETX | 23064 | senataxin | |
Human | TRIM32 | 22954 | tripartite motif containing 32 | |
Human | NDRG1 | 10397 | N-myc downstream regulated 1 | |
Human | SLC12A6 | 9990 | solute carrier family 12 (potassium/chloride transporter), member 6 | |
Human | MFN2 | 9927 | mitofusin 2 | |
Human | SNCAIP | 9627 | synuclein, alpha interacting protein | |
Human | MYOT | 9499 | myotilin | Hyporeflexia/areflexia in lower limbs |