| 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 |
| ID1003 | ENZYMEAlpha L-iduronidase | GENEIDUA | EC NUMBER3.2.1.76 | FAMILYGH39 | CYTOGENETICS4p16.3 | DISEASEMPS type I (Hurler and Scheie syndromes) | REFERENCE12559846, 10735634, 21394825, 7550242, 25256405 | ORGANSkin, Boness, Head, Liver , Spleen |
| ID1004 | ENZYMEAlpha Mannosidase | GENEMAN2B1 | EC NUMBER3.2.1.24 | FAMILYGH38 | CYTOGENETICS19p13.13 | DISEASEAlpha-Mannosidosis | REFERENCE12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | ORGANLiver, Kidney, Spleen,Eye |
| ID1006 | ENZYMEAcid alpha-glucosidase | GENEGAA | EC NUMBER3.2.1.20 | FAMILYGH31 | CYTOGENETICS17q25.3 | DISEASEPOMPE DISEASE | REFERENCE388444, 7717400 | ORGANLungs, Ear, Boness, 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 |
| ID1015 | ENZYMEAlphacetylglucosaminidase | GENENAGLU | EC NUMBER3.2.1.50 | FAMILYGH89 | CYTOGENETICS17q21.2 | DISEASESanfilippo syndrome type B,CharcotMarieTooth disease | REFERENCE9443875, 1376807 | ORGANNervous System |
| 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 |
| ID1035 | ENZYMEChitotriosidase1 | GENECHIT1 | EC NUMBER3.2.1.14 | FAMILYGH18 | CYTOGENETICS1q32.1 | DISEASEchitotriosidase deficiency,Gaucher's disease | REFERENCE9748235, 17464953, 19725875 | ORGANNA |
| 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 |
| 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 |
| ID1044 | ENZYMEHeparanase | GENEHPSE | EC NUMBER3.2.1.166 | FAMILYGH79 | CYTOGENETICS4q21.23 | DISEASEUrofacial Syndrome 1 | REFERENCE21332471 , 17489495, 27855655 | ORGANKidney,Head |
| ID1045 | ENZYMEHyaluronidase 1 | GENEHYAL1 | EC NUMBER3.2.1.35 | FAMILYGH 56 | CYTOGENETICS3p21.31 | DISEASEMucopolysaccharidosis 9(MPS9) | REFERENCE16600643, 10339581, 17503783, 10702795 | ORGANNose,Boness,Skin |
| 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 |
| ID1062 | ENZYMESialidase4 | GENENEU4 | EC NUMBER3.2.1.18 | FAMILYGH33 | CYTOGENETICS2q37.3 | DISEASEGalactosialidosis | REFERENCE15885103, 15213228, 4027547 | ORGANNervous System,HEart,Skin,Boness,Ear |
