Browse result page of RareLSD

The total number entries retrieved from this search are 26

Disease_ID	Disorder	Category	ENZYME LEVEL IN PATIENT (nm/h/mg protein)	Mannose-6-Phosphate	Gene	Location
Disease_IDD_1010	DisorderAspartylglycosaminuria (AGU)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneAGA	Locationcat enz
Disease_IDD_1011	DisorderNiemann-Pick disease(type A)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)0.1-0.35	Mannose-6-Phosphateyes	GeneSMPD1	Locationcat enz
Disease_IDD_1012	DisorderNiemann-Pick disease(type B)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)0.25-0.46	Mannose-6-Phosphateyes	GeneSMPD1	Locationcat enz
Disease_IDD_1013	DisorderNiemann-Pick disease(type C1 / chronic neuronopathic formD)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateno	GeneNPC1	LocationTMP
Disease_IDD_1014	DisorderNiemann-Pick disease(type C2)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneNPC2	Locationtp
Disease_IDD_1015	DisorderNiemann-Pick disease(type D / Nova Scotian type)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateno	GeneNPC1	LocationTMP
Disease_IDD_1016	DisorderFucosidosis	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneFUCA1	Locationcat enz
Disease_IDD_1017	DisorderGeleo Physic Dysplasia	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneFBN1/ADAMTSL2	Locationna
Disease_IDD_1018	DisorderLysosomal Acid Lipase Deficiency	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneLIPA	Locationcat enz
Disease_IDD_1019	Disordercholesteryl ester storage disease (later-onset)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneLIPA	Locationcat enz
Disease_IDD_1020	DisorderAlpha Mannosidosis	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneMAN2B1	Locationcat enz
Disease_IDD_1021	DisorderBeta Mannosidosis	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneMANBA	Locationcat enz
Disease_IDD_1022	DisorderMetachromatic leukodystrophy due to saposin B deficiency	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GenePSAP	Locationcat enz
Disease_IDD_1023	DisorderMetachromatic Leukodystrophy	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)0.0-0.3	Mannose-6-Phosphateyes	GeneARSA	Locationcat enz
Disease_IDD_1024	DisorderML I – Neuramidase Deficiency(Sialidoses)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneNEU1	Locationcat enz
Disease_IDD_1025	DisorderML II – I-Cell Disease	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneGNPTAB	Locationna
Disease_IDD_1026	DisorderML III – Pseudo Hurler Polydystrophy	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneGNPTAB	Locationna
Disease_IDD_1027	DisorderML IV	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneMCOLN1	Locationtp
Disease_IDD_1028	DisorderSialic Acid Storage Disease	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneSLC17A5	Locationna
Disease_IDD_1029	DisorderChanarin-Dorfman syndrome(myopathy)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GenePNPLA2	Locationna
Disease_IDD_1030	DisorderChanarin-Dorfman syndrome(ichthyosis)	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneCGI58	Locationna
Disease_IDD_1032	DisorderMucolipidosis II alpha/beta	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneGNPTAB	Locationna
Disease_IDD_1033	DisorderMucolipidosis IIIC / ML III GAMMA	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneGNPTG	Locationna
Disease_IDD_1034	DisorderNeuramidase 4 Deficiency	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneNEU4	Locationna
Disease_IDD_1035	DisorderWinchester	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphatena	GeneMMP14	Locationna
Disease_IDD_1036	DisorderWolman disease	CategoryMucolipidosis	ENZYME LEVEL IN PATIENT (nm/h/mg protein)nr	Mannose-6-Phosphateyes	GeneLIPA	Locationcat enz