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["Supplementary table 1. Lysosome-related genes and diseases"]
["Gene ","Diseases"]
["ABCA1","Tangier disease (TGD)"]
["ACP2","Acid phosphatase deficiency"]
["ADAMTSL2","Geleophysic dysplasia 1 (GPHYSD1)"]
["AGA","Aspartylglucosaminuria (AGU)"]
["AP1S1","Mednik syndrome"]
["AP1S2","Pettigrew syndrome"]
["AP3B1","Hermansky-Pudlak syndrome 2 (HPS2)"]
["APOA1","Amyloidosis, 3 or more types"]
["APOE","Alzheimer disease 2"]
["APP","Alzheimer disease (AD)"]
["ARL13B","Joubert syndrome 8 (JBTS8)"]
["ARSA","Metachromatic leukodystrophy (MLD)"]
["ARSB","Mucopolysaccharidosis type VI (MPS6; Maroteaux-Lamy syndrome)"]
["ASAH1","Farber lipogranulomatosis"]
["ATP13A2","Kufor-Rakeb syndrome \n(Krs, Parkinson disease 9)"]
["ATP6V0A2","Cutis laxa, autosomal recessive, type IIA (ARCL2A)"]
["ATP6V1B1","Renal tubular acidosis, distal, with progressive nerve deafness"]
["BLOC1S3","Hermansky-Pudlak syndrome 8 (HPS8)"]
["BLOC1S6","Hermansky-Pudlak syndrome 9 (HPS9)"]
["CAV3","Rippling muscle disease (RMD); Long QT syndrome 9 (LQT9); Myopathy, Distal, Tateyama Type (MPDT)"]
["CBL","Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia"]
["CISD2","Wolfram syndrome 2 (WFS2)"]
["CLCN5","Dent disease 1"]
["CLCNKA","Bartter syndrome type 4B"]
["CLCNKB","Bartter syndrome type 3"]
["CLN3","Ceroid lipofuscinosis, neuronal, 3 \n(CLN3; Batten disease)"]
["CLN5","Ceroid lipofuscinosis, neuronal, 5 (CLN5)"]
["CLN6","Ceroid lipofuscinosis, neuronal, 6 (CLN6)"]
["CLN8","Ceroid lipofuscinosis, neuronal, 8 (CLN8)"]
["CST3","Cerebral amyloid angiopathy, CST3-related; Macular degeneration, age-related, 11 (ARMD11)"]
["CTNS","Cystinosis, nephropathic (CTNS)"]
["CTSA","Galactosialidosis (GSL)"]
["CTSC","Papillon-Lefevre syndrome (PALS)"]
["CTSD","Ceroid lipofuscinosis, neuronal, 10 (CLN10)"]
["CTSE","Novel form of lysosome storage disorder in macrophages "]
["CTSF","Ceroid lipofuscinosis, neuronal, 13 (CLN13)"]
["CTSK","Pycnodysostosis"]
["CUBN","Megaloblastic anemia-1, Finnish type"]
["DCTN1","Perry syndrome"]
["DNAJC5","Ceroid lipofuscinosis, neuronal, 4B, autosomal dominant (CLN4B)"]
["DNM2","Charcot-Marie-Tooth neuropathy, dominant intermediate B"]
["DYM","Dyggve-Melchior-Clausen disease (DMC)"]
["DYNC1H1","Charcot-Marie-Tooth disease, axonal, type 2O (CMT2O)"]
["ECM1","Lipoid proteinosis Of Urbach and Wiethe"]
["EIF4G1","Parkinson disease 18 (PARK18)"]
["EPG5","Vici syndrome"]
["ERBB3","Lethal congenital contracture syndrome 2 (LCCS2)"]
["FBN1","Geleophysic dysplasia 2 (GPHYSD2)"]
["FBXO7","Parkinson disease 15, autosomal recessive early-onset (PARK15)"]
["FGD1","Aarskog-Scott syndrome (AAS)"]
["FGD4","Charcot-Marie-Tooth disease, type 4H (CMT4H)"]
["FIG4","Charcot-Marie-Tooth disease, type 4J (CMT4J)"]
["FUCA1","Fucosidosis"]
["GAA","Glycogen storage disease II (Pompe disease)"]
["GALC","Krabbe disease"]
["GALNS","Mucopolysaccharidosis type IVA (MPS4A)"]
["GATA2","Lymphedema, primary, with myelodysplasia"]
["GBA","Gaucher disease; Parkinson disease, late-onset (PD)"]
["GLA","Fabry disease"]
["GLB1","Mucopolysaccharidosis type IVB \n(Morquio syndrome B); \nGM1-gangliosidosis, type I; type II; type III"]
["GNE","Inclusion body myopathy 2, autosomal recessive (IBM2)"]
["GNPTAB","Mucolipidosis II alpha/beta;  Mucolipidosis III alpha/beta"]
["GNPTAG","Mucolipidosis III gamma"]
["GNS","Mucopolysaccharidosis type IIID \n(MPS3D, Sanfilippo syndrome D)"]
["GRN","Ceroid lipofuscinosis, neuronal, 11 (CLN11); Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related"]
["GUSB","Mucopolysaccharidosis Type VII (MPS7; Sly Syndrome)"]
["HEXA","Tay-Sachs disease (TSD)"]
["HEXB","Sandhoff disease"]
["HGSNAT","Mucopolysaccharidosis type IIIC \n(MPS3C, Sanfilippo syndrome C)"]
["HPS1","Hermansky-Pudlak syndrome 1 (HPS1)"]
["HPS4","Hermansky-Pudlak syndrome 4 (HPS4)"]
["HRAS","Costello syndrome (CSTLO)"]
["HYAL1","Mucopolysaccharidosis, type IX (MPS9)"]
["IDS","Mucopolysaccharidosis type II (Hunter syndrome)"]
["IDUA","Mucopolysaccharidosis type IH (Hurler syndrome)"]
["IL2RG","Combined immunodeficiency, X-linked (Cidx)"]
["INPP5E","Joubert syndrome 1 (JBTS1)"]
["KCNE1","Jervell and Lange-Nielsen syndrome 2 (JLNS2)"]
["KCTD7","Epilepsy, progressive myoclonic 3, with or without intracellular inclusions \n(EPM3; Ceroid lipofuscinosis, neuronal, 14)"]
["KRT18","Cirrhosis, familial"]
["KRT8","Cirrhosis, familial"]
["LAMP2","Danon disease"]
["LDLR","Hypercholesterolemia familial"]
["LIPA","Lysosomal acid lipase deficiency (Wolman disease)"]
["LITAF","Charcot-Marie-Tooth disease, type 1C"]
["LMBRD1","Methylmalonic aciduria and homocystinuria, cblF type"]
["LPL","Hyperlipoproteinemia, type I"]
["LRBA","Immunodeficiency, common variable 8"]
["LRP2","Donnai-Barrow syndrome"]
["LRRK2","Parkinson disease 8, autosomal dominant (PARK8)"]
["LYST","Chediak-Higashi syndrome (CHS)"]
["MAN2B1","Mannosidosis, alpha B, lysosomal (MANSA)"]
["MANBA","Mannosidosis, beta A, lysosomal (MANSB)"]
["MAPT","Pick disease of brain"]
["MCOLN1","Mucolipidosis IV"]
["MFSD8","Ceroid lipofuscinosis, neuronal, 7 (CLN7)"]
["MTMR2","Charcot-Marie-Tooth disease, type 4B1 (CMT4B1)"]
["MYO5A","Griscelli syndrome, type 1 (GS1)"]
["MYO6","Deafness, autosomal dominant 22; Deafness, autosomal recessive 37"]
["MYO7A","Usher syndrome, type I (USH1)"]
["NAGA","Kanzaki disease"]
["NAGLU","Mucopolysaccharidosis type IIIB (MPS3B, Sanfilippo syndrome B)"]
["NCF2","Granulomatous disease, chronic, autosomal recessive, cytochrome B-positive, type II"]
["NCF4","Granulomatous disease, chronic, autosomal recessive, cytochrome B-positive, type III"]
["NEU1","Neuraminidase deficiency \n(Mucolipidosis I, ML1)"]
["NPC1","Niemann-Pick disease, type C1 (NPC1)"]
["NPC2","Niemann-Pick disease, type C2 (NPC2)"]
["OCRL","Lowe oculocerebrorenal syndrome; Dent disease 2"]
["PARK2","Parkinson disease 2, autosomal recessive juvenile (PARK2)"]
["PARK7","Parkinson disease 7, autosomal recessive early-onset (PARK7)"]
["PDGFRA","Gastrointestinal stromal tumor (GIST)"]
["PIK3CA","Cowden syndrome 5 (CWS5)"]
["PIK3R1","Short syndrome"]
["PINK1","Parkinson disease 6, autosomal recessive early-onset (PARK6)"]
["PLA2G6","Parkinson disease 14, autosomal recessive (PARK14)"]
["PPT1","Ceroid lipofuscinosis, neuronal, 1 (CLN1)"]
["PSAP","Gaucher disease, atypical, due to saposin C deficiency"]
["PSEN1","Alzheimer disease 3"]
["PSEN2","Alzheimer disease 4"]
["PTEN","Cowden syndrome 1 (CWS1)"]
["RAB18","Warburg micro syndrome 3 (WARBM3)"]
["RAB27A","Griscelli syndrome, type 2 (GS2)"]
["RAB33B","Smith-Mccort dysplasia 2 (SMC2)"]
["RIN2","Macs syndrome"]
["RPS6KA3","Coffin-Lowry syndrome (CLS)"]
["SBF1","Charcot-Marie-Tooth disease, type 4B3 (CMT4B3)"]
["SBF2","Charcot-Marie-Tooth disease, type 4B2 (CMT4B2)"]
["SGSH","Mucopolysaccharidosis type IIIA (MPS3A, Sanfilippo syndrome A)"]
["SH3TC2","Charcot-Marie-Tooth disease, dype 4C (CMT4C)"]
["SIL1","Marinesco-Sjogren syndrome (MSS)"]
["SLC17A5","Infantile sialic acid storage disorder"]
["SLC29A3","Histiocytosis-lymphadenopathy plus syndrome"]
["SMPD1","Niemann-Pick disease, type A and type B"]
["SNCA","Parkinson disease 1 (PARK1); Parkinson disease 4 (PARK4)"]
["SPG20","Troyer syndrome"]
["SQSTM1","Paget disease of bone (PDB)"]
["STK11","Peutz-Jeghers syndrome (PJS)"]
["STS","Ichthyosis, X-linked (XLI)"]
["STXBP1","Epileptic encephalopathy, early infantile, 4\n(EIEE4)"]
["SUMF1","Multiple sulfatase deficiency (MSD)"]
["TFAP2A","Branchiooculofacial syndrome (BOFS)"]
["TMEM237","Joubert syndrome 14 (JBTS14)"]
["TPP1","Ceroid lipofuscinosis, neuronal, 2 (CLN2); Spinocerebellar ataxia, autosomal recessive 7 (SCAR7)"]
["VPS35","Parkinson disease 17 (PARK17)"]
["Adapted from Di Fruscio G, Schulz A, De Cegli R, et al. Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway. Autophagy. 2015;11(6):928-938. doi:10.1080/15548627.2015.1043077."]

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