| ID1001 | ENZYMEAlpha galactosidase A | GENEGLA | EC NUMBER3.2.1.22 | FAMILYGH27 | CYTOGENETICSXq22.1 | DISEASEFabry's Disease | REFERENCE704691, 19621417, 3009617,17391432 | ORGANKidney, Heart,Eye,Skin,Muscle,Boness,Nervous System,Lungs |
| ID1002 | ENZYMEAlpha L-Fucosidase, tissue | GENEFUCA1 | EC NUMBER3.2.1.51 | FAMILYGH29 | CYTOGENETICS1-p36.11 | DISEASEFucosidosis | REFERENCE9762612, 10094192, 8399358, 2903668 | ORGANEar,Nose,Eye,Boness,Nervous System,Lungs,Nervous System,HEart |
| ID1004 | ENZYMEAlpha Mannosidase | GENEMAN2B1 | EC NUMBER3.2.1.24 | FAMILYGH38 | CYTOGENETICS19p13.13 | DISEASEAlpha-Mannosidosis | REFERENCE12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | ORGANLiver, Kidney, Spleen,Eye |
| ID1007 | ENZYMEN-acetylsphingosine amidohydrolase (acid ceramidas... | GENEASAH1 | EC NUMBER3.5.1.23 | FAMILYAcid ceramidase | CYTOGENETICS8p22 | DISEASEFarber lipogranulomatosis | REFERENCE23707712, 22565078, 23707712 | ORGANEye,Liver, Spleen,Skin,Bones,Nervous System |
| ID1012 | ENZYMEAlpha-N-acetylgalactosaminidase | GENENAGA | EC NUMBER3.2.1.49 | FAMILYGH 27 | CYTOGENETICS22q13.3 | DISEASESchindler disease (type I) | REFERENCE19683538 | ORGANSkin,Hair,Eye,Nervous System,Nose,Ear,Muscle |
| ID1013 | ENZYMEAlpha-N-acetylgalactosaminidase | GENENAGA | EC NUMBER3.2.1.49 | FAMILYGH 27 | CYTOGENETICS22q13.4 | DISEASEKanzaki disease(type II) | REFERENCE19683538 | ORGANEye,Boness, Nervous System,Muscle |
| ID1014 | ENZYMEAlpha-N-acetylgalactosaminidase | GENENAGA | EC NUMBER3.2.1.49 | FAMILYGH 27 | CYTOGENETICS22q13.5 | DISEASESchindler disease(type III) | REFERENCE8782044 | ORGANEar,Eye,HEart,Boness,Liver,Spleen,Hair,Nervous System |
| ID1016 | ENZYMEArylsulphatase A | GENEASRA | EC NUMBER3.1.6.8 | FAMILYArylsulphatase | CYTOGENETICS22q13.33 | DISEASEMetachromatic leukodystrophy (MLD) | REFERENCE7906588,8095918,7815433 ,9521684 | ORGANEye,Nervous System,Muscle |
| ID1017 | ENZYMEArylsulphatase B | GENEARSB | EC NUMBER3.1.6.12 | FAMILYArylsulphatase | CYTOGENETICS5q14.1 | DISEASEMucopolysaccharidosis 6 (MPS6)/MAROTEAUXLAMY SYNDR... | REFERENCE15324318 , 1901688 , 4276101 | ORGANEar,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| ID1018 | ENZYMEArylsulphatase G | GENEARSG | EC NUMBER3.1.6.- | FAMILYArylsulphatase | CYTOGENETICS17q24.2 | DISEASEscotoma | REFERENCE12461688 , 18283100 , 25825126 | ORGANEye |
| ID1019 | ENZYMEBeta Galactosidase 1 | GENEGLB1 | EC NUMBER3.2.1.23 | FAMILYGH35 | CYTOGENETICS3p22.3 | DISEASEGM1gangliosidis, MPS type IVB (Morquio syndrome) | REFERENCE17309651 , 17664528 , 16538002 | ORGANEar,Eye,HEart,Boness,Liver,Spleen,Hair,Head,Nervous System |
| ID1020 | ENZYMEBeta Glucuronidase | GENEGUSB | EC NUMBER3.2.1.31 | FAMILYGH2 | CYTOGENETICS7q11.21 | DISEASEMPS type VII (Sly syndrome) | REFERENCE16272959 , 12522561 , 3468507 | ORGANEar,Skin,Eye,HEart,Boness,Liver,Lungs,Hair,Nervous System,Kidney,Spleen |
| ID1021 | ENZYMEBeta Hexosaminidase alpha-subunit | GENEHEXA | EC NUMBER3.2.1.52 | FAMILYGH20 | CYTOGENETICS15q23 | DISEASEGM2gangliosidosis type I (TaySach's disease) | REFERENCE7898712 , 19858779 , 9603435 | ORGANNervous System,Lungs,Eye |
| ID1022 | ENZYMEBeta Hexosaminidase beta-subunit | GENEHEXB | EC NUMBER3.2.1.52 | FAMILYGH20 | CYTOGENETICS5q13.3 | DISEASEGM2gangliosidosis type II (Sandhoff disease) | REFERENCE23290073, 1531140, 1720305, 7557963, 7633435, 9694901, 9401004 | ORGANNervous System,Lungs,Eye,Muscle,Skin |
| ID1023 | ENZYMEBeta Mannosidase | GENEMANBA | EC NUMBER3.2.1.25 | FAMILYGH2 | CYTOGENETICS4q24 | DISEASELysosomal beta-mannosidosis | REFERENCE21873635, 20364138, 17899454, 19728872, 20332099 | ORGANLiver, Kidney, Spleen,Eye |
| ID1026 | ENZYMECathepsin D | GENECTSD | EC NUMBER3.4.23.5 | FAMILYpeptidase A1 (Aspartic Protease) | CYTOGENETICS11-p15.5 | DISEASENCL(CLN10) | REFERENCE10856224, 19159210 | ORGANNervous System,Lungs,Eye,Muscle,Boness,Head,Nose |
| ID1032 | ENZYMECathepsin S | GENECTSS | EC NUMBER3.4.22.27 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS1q21 | DISEASEcercarial dermatitis,corneal dystrophy, subepithel... | REFERENCE19593952 , 1373132 | ORGANEye |
| ID1037 | ENZYMEDicetylchitobiase | GENECTBS | EC NUMBER3.4.22.1 | FAMILYGH18 | CYTOGENETICS1-p22.3 | DISEASEFocal Hand Dystonia,Hypomyeliting Leukodystrophy | REFERENCE19930869 , 1637335, 8112600 | ORGANNervous System,Eye,Muscle |
| ID1038 | ENZYMEGalactocerebrosidase | GENEGALC | EC NUMBER3.2.1.46 | FAMILYGH59 | CYTOGENETICS14q31.3 | DISEASEKrabbe disease (globoid cell leukodystrophy) | REFERENCE3094585, 507819, 42440, 3934152 | ORGANNervous System,Eye,Ear |
| ID1040 | ENZYMEGanglioside GM2 activator | GENEGM2A | EC NUMBER3.2.1.52 | FAMILYNtn-hydrolase | CYTOGENETICS5q33.1 | DISEASEGm2-Gangliosidosis, Ab Variant | REFERENCE14702039, 1915857, 8900233 | ORGANNervous System,Eye,Muscle |
| ID1041 | ENZYMEGlucosylceramidase | GENEGBA | EC NUMBER3.2.1.45 | FAMILYGH30 | CYTOGENETICS1q22 | DISEASEGaucher disease Type 1 | REFERENCE1070017, 7172089, 5425955, 3927701 | ORGANEye,Boness,Liver,Lungs,Hair,Spleen,Nose,Skin |
| ID1042 | ENZYMEN-acetylglucosamine-1-phosphotransferasesubunits a... | GENEGNPTAB | EC NUMBER2.7.8.17 | FAMILYStealth | CYTOGENETICS12q23.2 | DISEASEMucolipidosis Iii Alpha/Beta | REFERENCE23733939, 25505245, 21719679, 16200072, 16835905, 19197337, 19617216, 19634183, 16094673, 16465621, 16630736, 17034777, 19197337, 19617216, 19634183, 19938078 | ORGANHead,Heart,Spleen,Liver,Lung,Eye |
| ID1043 | ENZYMEHeparaglucosaminide Nacetyltransferase (TMEM76) | GENEHGSNAT | EC NUMBER2.3.1.78 | FAMILYAcetyltransfersases | CYTOGENETICS8p11.21-p11.1 | DISEASEMucopolysaccharidosis type IIIC | REFERENCE676018, 20583299 , 3090688 | ORGANHEart,Hair,Muscle,Boness,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose |
| ID1047 | ENZYMEL-Aminoacid oxidase | GENEIL4I1 | EC NUMBER1.4.3.2 | FAMILYFlavin monoamine oxidase | CYTOGENETICS19q13.33 | DISEASEInfantile Striatonigral Degeneration | REFERENCE10944103, 19689417 | ORGANNervous System,Eye, |
| ID1051 | ENZYMEN(4) (beta-acetylglucosaminyl) L-asparaginase | GENEAGA | EC NUMBER3.5.1.26 | FAMILYNtn-hydrolase | CYTOGENETICS4q34.3 | DISEASEAspartylglucosaminuria | REFERENCE11309371, 2401370 | ORGANHEart,Muscle,Boness,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head |
| ID1052 | ENZYMEN-acetylglucosamine-6-sulphatase | GENEGNS | EC NUMBER3.1.6.14 | FAMILYsulfatase | CYTOGENETICS12q14.3 | DISEASEMucopolysaccharidosis, Type Iiid | REFERENCE12573255, 6450420, 19650410 | ORGANHead,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Hair,Spleen,Nervous System,HEart |
| ID1053 | ENZYMEN-sulphoglucosamine sulphohydrolase | GENESGSH | EC NUMBER3.10.1.1 | FAMILYsulphatase | CYTOGENETICS17q25.3 | DISEASEMPS type IIIA (Sanfilippo syndrome A) | REFERENCE18407553, 11793481, 15902564 | ORGANHEart,Ear,Eye,Liver,Spleen,Boness,Hair,Nervous System |
| ID1054 | ENZYMEPalmitoylprotein thioesterase 1 | GENEPPT1 | EC NUMBER3.1.2.22 | FAMILYpalmitoylprotein thioesterase | CYTOGENETICS1-p34.2 | DISEASENCL (CLN1) | REFERENCE25253854, 25233404, 23581634, 9648881, 24997880247... | ORGANNervous System,Boness,Head,Eye |
| ID1057 | ENZYMEProXaa carboxypeptidase | GENEPRCP | EC NUMBER3.4.16.2 | FAMILYpeptidase S28 | CYTOGENETICS11q14.1 | DISEASESarcoidosis | REFERENCE6366093, 230518 | ORGANLungs,Eye,Skin,HEart |
| ID1059 | ENZYMERibonuclease T2 | GENERNASET2 | EC NUMBER3.1.27.- | FAMILYRnase T2 | CYTOGENETICS6q27 | DISEASECystic leukoencephalopathy without megalencephaly | REFERENCE28658095, 3424803 | ORGANNervous System,Head,Ear,Eye |
| ID1061 | ENZYMESialidase1 | GENENEU1 | EC NUMBER3.2.1.18 | FAMILYGH33 | CYTOGENETICS6p21.33 | DISEASESialidosis (mucolipidosis type I) | REFERENCE8985184, 25153125, 19666471, 29693572 | ORGANHead,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,HEart |
| ID1063 | ENZYMESphingomyelin phosphodiesterase | GENESMPD1 | EC NUMBER3.1.4.12 | FAMILYAcid sphingomyelise | CYTOGENETICS11-p15.4 | DISEASE Niemann-Pick Disease, Type a | REFERENCE18815062, 12631268, 18088425 | ORGANEye,Liver,Lungs,Muscle,Spleen,Boness,Skin,Nervous System |
| ID1065 | ENZYMETripeptidylpeptidase I | GENETPPI | EC NUMBER3.4.14.9 | FAMILYpeptidase S53 domain | CYTOGENETICS11-p15.4 | DISEASENeuronal Ceroid Lipofuscinosis2,Autosomal Recessive | REFERENCE9653647, 23418007 | ORGANEye,Nervous System |
| ID1066 | ENZYMEFormylglycine-generating enzyme | GENESUMF1 | EC NUMBER1.8.3.7 | FAMILYsulfatase-modifying factor | CYTOGENETICS3p26.1 | DISEASEMultiple sulfatase deficiency (MSD) | REFERENCE12757706, 25931126, 15907468, 12757705, 12757706, 15146462, 18157819, 21224894 | ORGANEar,Eye,Heart,Liver,Spleen,Skin,Bone,Teeth,Nose |
