Browse result page of "Disorder" of RareLSD
The total number entries retrieved from this search are 12| ID | ENZYME | GENE | EC NUMBER | FAMILY | CYTOGENETICS | DISEASE | REFERENCE | ORGAN |
|---|---|---|---|---|---|---|---|---|
| 1001 | Alpha galactosidase A | GLA | 3.2.1.22 | GH27 | Xq22.1 | Fabry's Disease | 704691, 19621417, 3009617,17391432 | Kidney, Heart,Eye,Skin,Muscle,Boness,Nervous System,Lungs |
| 1012 | Alpha-N-acetylgalactosaminidase | NAGA | 3.2.1.49 | GH 27 | 22q13.3 | Schindler disease (type I) | 19683538 | Skin,Hair,Eye,Nervous System,Nose,Ear,Muscle |
| 1013 | Alpha-N-acetylgalactosaminidase | NAGA | 3.2.1.49 | GH 27 | 22q13.4 | Kanzaki disease(type II) | 19683538 | Eye,Boness, Nervous System,Muscle |
| 1016 | Arylsulphatase A | ASRA | 3.1.6.8 | Arylsulphatase | 22q13.33 | Metachromatic leukodystrophy (MLD) | 7906588,8095918,7815433 ,9521684 | Eye,Nervous System,Muscle |
| 1022 | Beta Hexosaminidase beta-subunit | HEXB | 3.2.1.52 | GH20 | 5q13.3 | GM2gangliosidosis type II (Sandhoff disease) | 23290073, 1531140, 1720305, 7557963, 7633435, 9694901, 9401004 | Nervous System,Lungs,Eye,Muscle,Skin |
| 1026 | Cathepsin D | CTSD | 3.4.23.5 | peptidase A1 (Aspartic Protease) | 11-p15.5 | NCL(CLN10) | 10856224, 19159210 | Nervous System,Lungs,Eye,Muscle,Boness,Head,Nose |
| 1037 | Dicetylchitobiase | CTBS | 3.4.22.1 | GH18 | 1-p22.3 | Focal Hand Dystonia,Hypomyeliting Leukodystrophy | 19930869 , 1637335, 8112600 | Nervous System,Eye,Muscle |
| 1040 | Ganglioside GM2 activator | GM2A | 3.2.1.52 | Ntn-hydrolase | 5q33.1 | Gm2-Gangliosidosis, Ab Variant | 14702039, 1915857, 8900233 | Nervous System,Eye,Muscle |
| 1043 | Heparaglucosaminide Nacetyltransferase (TMEM76) | HGSNAT | 2.3.1.78 | Acetyltransfersases | 8p11.21-p11.1 | Mucopolysaccharidosis type IIIC | 676018, 20583299 , 3090688 | HEart,Hair,Muscle,Boness,Nervous System,Lungs,Spleen,Liver,Eye,Ear,Nose |
| 1051 | N(4) (beta-acetylglucosaminyl) L-asparaginase | AGA | 3.5.1.26 | Ntn-hydrolase | 4q34.3 | Aspartylglucosaminuria | 11309371, 2401370 | HEart,Muscle,Boness,Nervous System,Lungs,Liver,Eye,Ear,Nose,Head |
| 1061 | Sialidase1 | NEU1 | 3.2.1.18 | GH33 | 6p21.33 | Sialidosis (mucolipidosis type I) | 8985184, 25153125, 19666471, 29693572 | Head,Nose,Boness,Skin,Ear,Eye,Liver,Lungs,Muscle,Spleen,Nervous System,HEart |
| 1063 | Sphingomyelin phosphodiesterase | SMPD1 | 3.1.4.12 | Acid sphingomyelise | 11-p15.4 | Niemann-Pick Disease, Type a | 18815062, 12631268, 18088425 | Eye,Liver,Lungs,Muscle,Spleen,Boness,Skin,Nervous System |