| 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 |
| ID1006 | ENZYMEAcid alpha-glucosidase | GENEGAA | EC NUMBER3.2.1.20 | FAMILYGH31 | CYTOGENETICS17q25.3 | DISEASEPOMPE DISEASE | REFERENCE388444, 7717400 | ORGANLungs, Ear, Boness, Nervous System |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| ID1036 | ENZYMEDeoxyribonuclease 2 alpha | GENEDNASE2 | EC NUMBER3.1.22.1 | FAMILYDse II f | CYTOGENETICS19p13.13 | DISEASEcalcific tendinitis | REFERENCE18812394, 15057824, 12558498 | ORGANBoness |
| 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 |
| 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 |
| ID1045 | ENZYMEHyaluronidase 1 | GENEHYAL1 | EC NUMBER3.2.1.35 | FAMILYGH 56 | CYTOGENETICS3p21.31 | DISEASEMucopolysaccharidosis 9(MPS9) | REFERENCE16600643, 10339581, 17503783, 10702795 | ORGANNose,Boness,Skin |
| 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 |
| 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 |
| ID1058 | ENZYMEProtective protein (cathepsin A) | GENECTSA | EC NUMBER3.4.16.5 | FAMILYpeptidase S10 | CYTOGENETICS20q13.12 | DISEASEGalactosialidosis | REFERENCE23915561, 6812049, 19097920 | ORGANNervous System,Boness,Skin,HEart,Ear |
| ID1060 | ENZYMESialate O-acetylesterase | GENESIAE | EC NUMBER3.1.1.53 | FAMILYHydrolyases | CYTOGENETICS11q24.2 | DISEASEAutoimmune disease 6 (AIS6) | REFERENCE20555325 , 14702039, 551583, 2626685, 2900412 | ORGANBoness |
| 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 |
| 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 |
| 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 |
