| 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 |
| ID1006 | ENZYMEAcid alpha-glucosidase | GENEGAA | EC NUMBER3.2.1.20 | FAMILYGH31 | CYTOGENETICS17q25.3 | DISEASEPOMPE DISEASE | REFERENCE388444, 7717400 | ORGANLungs, Ear, Boness, Nervous System |
| ID1011 | ENZYMEAcid phosphatase type 5, tartrate resistant (UTERO... | GENEACP5 | EC NUMBER3.1.3.2 | FAMILYHistidine acid phosphatase | CYTOGENETICS19p13.2 | DISEASESpondyloenchondrodysplasia with immune dysregulation | REFERENCE247302626, 951490 | ORGANSkin, Boness, Head,Nervous System,Lungs,Hair |
| 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 |
| 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 |
| 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 |
| ID1046 | ENZYMEIduronate 2 sulphatase | GENEIDS | EC NUMBER3.1.6.13 | FAMILYSulfatase | CYTOGENETICSXq28 | DISEASEMPS type II (Hunter syndrome) | REFERENCE1303211, 8281149, 7981716 | ORGANKidney,Head,Nose,Boness,Skin,Teeth,,Liver,Lungs,Hair,Spleen,Nervous System |
| 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 |
| ID1057 | ENZYMEProXaa carboxypeptidase | GENEPRCP | EC NUMBER3.4.16.2 | FAMILYpeptidase S28 | CYTOGENETICS11q14.1 | DISEASESarcoidosis | REFERENCE6366093, 230518 | ORGANLungs,Eye,Skin,HEart |
| 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 |
