| 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 |
| ID1005 | ENZYMEN-acetylglucosamine-6-sulphatase | GENEGALNS | EC NUMBER3.1.6.4 | FAMILYArylsulphatase | CYTOGENETICS16q24.3 | DISEASEMPS IVA/Morquio A disease | REFERENCE25545067,8434612 , 22940367, 25137622 | ORGANEar,Head , Face,Teeth |
| 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 |
| 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 |
| 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 |
| 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 |
| ID1029 | ENZYMECathepsin K | GENECTSK | EC NUMBER3.4.22.38 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS1q21 | DISEASEPycnodysostosis (PKND) | REFERENCE1049121 , 125731710 | ORGANHead,Nose,Teeth,,Boness,Skin,Hair |
| 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 |
| ID1044 | ENZYMEHeparanase | GENEHPSE | EC NUMBER3.2.1.166 | FAMILYGH79 | CYTOGENETICS4q21.23 | DISEASEUrofacial Syndrome 1 | REFERENCE21332471 , 17489495, 27855655 | ORGANKidney,Head |
| 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 |
| ID1049 | ENZYMENatriuretic Peptide Receptor B/Guanylate Cyclase B | GENENPR2 | EC NUMBER4.6.1.2 | FAMILYadenylyl cyclase class-4/guanylyl cyclase | CYTOGENETICS9p13.3 | DISEASEAcromesomelic Dysplasia-Maroteaux Type | REFERENCE15146390, 17652215, 26980729 | ORGANHead,Bones & Joints |
| 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 |
| 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 |
| 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 |
