| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| ID1064 | ENZYMEThiol reductase, ginterferon inducible | GENEIFI30 | EC NUMBER1.8.-.- | FAMILYGILT | CYTOGENETICS19p13.11 | DISEASEatrophic rhinitis | REFERENCE10639150, 10852914, 3136170 | ORGANNose |
| 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 |
