| 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 |
| ID1004 | ENZYMEAlpha Mannosidase | GENEMAN2B1 | EC NUMBER3.2.1.24 | FAMILYGH38 | CYTOGENETICS19p13.13 | DISEASEAlpha-Mannosidosis | REFERENCE12718372, 15712269, 22161967, 9158146, 9758606, 9915946 | ORGANLiver, Kidney, Spleen,Eye |
| 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 |
| ID1008 | ENZYMEAcid lipase | GENELIPA | EC NUMBER3.1.1.13 | FAMILYa/b Hydrolasefold lipase | CYTOGENETICS10q24q25 | DISEASEWolman disease (WOD) | REFERENCE8146180, 8432549, 10562460 , 22138108 | ORGANLiver, Kidney, Spleen |
| ID1009 | ENZYMEAcid lipase | GENELIPA | EC NUMBER3.1.1.13 | FAMILYa/b Hydrolasefold lipase | CYTOGENETICS10q23.31 | DISEASECholesteryl ester storage disease (CESD) | REFERENCE9633819 | ORGANLiver, Kidney, Spleen |
| 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 |
| ID1023 | ENZYMEBeta Mannosidase | GENEMANBA | EC NUMBER3.2.1.25 | FAMILYGH2 | CYTOGENETICS4q24 | DISEASELysosomal beta-mannosidosis | REFERENCE21873635, 20364138, 17899454, 19728872, 20332099 | ORGANLiver, Kidney, Spleen,Eye |
| ID1039 | ENZYMEgammaGlutamyl hydrolase | GENEGGH | EC NUMBER3.4.19.9 | FAMILYpeptidase C26 | CYTOGENETICS8q12.23q13.1 | DISEASETropical Sprue & Methotrexate Toxicity | REFERENCE11005824, 5500927 , 10739875 | ORGANLiver |
| 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 |
| 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 |
| 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 |
| 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 |
