| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| 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 |
| ID1024 | ENZYMECathepsin B | GENECTSB | EC NUMBER3.4.22.1 | FAMILYpeptidase C1 | CYTOGENETICS8p23.1 | DISEASEKeratolytic winter erythema | REFERENCE11896452 , 24300638 | ORGANSkin |
| ID1025 | ENZYMECathepsin C | GENECTSC | EC NUMBER3.4.14.1 | FAMILYpeptidase C1 | CYTOGENETICS11q14.1q14.3 | DISEASEPapillon-Lefevre syndrome (PLS) | REFERENCE9092576 , 7649281 | ORGANTeeth ,Skin,Nervous System |
| ID1029 | ENZYMECathepsin K | GENECTSK | EC NUMBER3.4.22.38 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS1q21 | DISEASEPycnodysostosis (PKND) | REFERENCE1049121 , 125731710 | ORGANHead,Nose,Teeth,,Boness,Skin,Hair |
| ID1031 | ENZYMECathepsin O | GENECTSO | EC NUMBER3.4.22.42 | FAMILYPapain cysteine protease (C1) | CYTOGENETICS4q31q32 | DISEASEBreast Neoplasms | REFERENCE9790772 , 28514442 , 7929457 | ORGANSkin |
| 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 |
| 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 |
| ID1050 | ENZYMEMyeloperoxidase | GENEMPO | EC NUMBER1.11.2.2 | FAMILYPeroxidase | CYTOGENETICS17q22 | DISEASEMyeloperoxidase deficiency | REFERENCE19544176, 19651119, 17479404 | ORGANNervous System,Skin |
| 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 |
| 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 |
| 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 |
