Class information for:
Level 2: FABRY DISEASE//GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE

Basic class information
Bar chart of Publication_year

Last years might be incomplete

Hierarchy of classes
The table includes all classes above and classes immediately below the current class.


Cluster id Level Cluster label #P
0 4 ONCOLOGY//CELL BIOLOGY//BIOCHEMISTRY & MOLECULAR BIOLOGY 2934640
497 3       FABRY DISEASE//GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE 23081
385 2             FABRY DISEASE//GAUCHER DISEASE//LYSOSOMAL STORAGE DISEASE 17453
912 1                   MUCOPOLYSACCHARIDOSIS//MUCOPOLYSACCHARIDOSES//HUNTER SYNDROME 3007
1935 1                   GAUCHER DISEASE//GLUCOCEREBROSIDASE//GAUCHER CLIN 2458
4007 1                   FABRY DISEASE//ALPHA GALACTOSIDASE A//ANDERSON FABRY DISEASE 1897
5362 1                   NIEMANN PICK DISEASE TYPE C//NIEMANN PICK TYPE C//NIEMANN PICK DISEASE 1665
6092 1                   BATTEN DISEASE//NEURONAL CEROID LIPOFUSCINOSIS//NEURONAL CEROID LIPOFUSCINOSES 1559
8534 1                   MANNOSE 6 PHOSPHATE//MANNOSE 6 PHOSPHATE RECEPTOR//I CELL DISEASE 1274
10285 1                   SIALIDASE//GALACTOSIALIDOSIS//SIALIDOSIS 1107
10461 1                   SANDHOFF DISEASE//GM2 GANGLIOSIDOSIS//TAY SACHS DISEASE 1091
11487 1                   METACHROMATIC LEUKODYSTROPHY//ARYLSULFATASE A//MULTIPLE SULFATASE DEFICIENCY 1005
16946 1                   KRABBE DISEASE//GLOBOID CELL LEUKODYSTROPHY//PSYCHOSINE 652
17631 1                   PROSAPOSIN//SPHINGOLIPID ACTIVATOR PROTEINS//SAPOSIN 617
19438 1                   ALPHA MANNOSIDOSIS//MANNOSIDOSIS//BETA MANNOSIDOSIS 529
24062 1                   FUCOSIDOSIS//ALPHA L FUCOSIDASE//FUCA1 348
27663 1                   ASPARTYLGLUCOSAMINURIA//ASPARTYLGLUCOSAMINIDASE//GLYCOSYLASPARAGINASE 244

Terms with highest relevance score


rank Category termType chi_square shrOfCwithTerm shrOfTermInClass termInClass
1 FABRY DISEASE authKW 1492911 5% 90% 922
2 GAUCHER DISEASE authKW 1403938 5% 84% 922
3 LYSOSOMAL STORAGE DISEASE authKW 1067004 4% 77% 770
4 ENZYME REPLACEMENT THERAPY authKW 965942 4% 75% 713
5 MUCOPOLYSACCHARIDOSIS authKW 558859 2% 87% 356
6 LYSOSOMAL STORAGE DISORDER authKW 504880 2% 74% 379
7 BATTEN DISEASE authKW 422662 1% 93% 252
8 NEURONAL CEROID LIPOFUSCINOSIS authKW 386636 1% 88% 245
9 GLUCOCEREBROSIDASE authKW 377280 1% 84% 248
10 METACHROMATIC LEUKODYSTROPHY authKW 359624 1% 92% 216

Web of Science journal categories


chi_square_rank Category chi_square shrOfCwithTerm shrOfTermInClass termInClass
1 Genetics & Heredity 46213 22% 1% 3866
2 Medicine, Research & Experimental 17179 13% 1% 2222
3 Biochemistry & Molecular Biology 14356 27% 0% 4656
4 Clinical Neurology 7165 10% 0% 1784
5 Endocrinology & Metabolism 6417 9% 0% 1485
6 Pediatrics 6117 7% 0% 1287
7 Medical Laboratory Technology 4028 3% 1% 481
8 Pathology 2848 4% 0% 736
9 Neurosciences 2583 10% 0% 1676
10 Biophysics 2325 5% 0% 914

Address terms


chi_square_rank term chi_square shrOfCwithTerm shrOfTermInClass termInClass
1 LYSOSOMAL DIS UNIT 227366 1% 80% 158
2 GAUCHER CLIN 212470 1% 85% 139
3 DEV METAB NEUROL BRANCH 148650 1% 61% 135
4 SECT MOL NEUROGENET 65116 0% 59% 61
5 FDN GILLET MERIEUX 63626 0% 84% 42
6 WILLINK BIOCHEM GENET UNIT 61547 0% 42% 81
7 MED GENET SERV 54303 1% 24% 124
8 LYSOSOMAL STORAGE DISORDERS UNIT 52600 0% 83% 35
9 PEDIAT STORAGE DISORDERS 52600 0% 83% 35
10 AMSTERDAM LYSOSOME SPHINX 52311 0% 100% 29

Journals


chi_square_rank term chi_square shrOfCwithTerm shrOfTermInClass termInClass
1 MOLECULAR GENETICS AND METABOLISM 187020 3% 18% 576
2 JOURNAL OF INHERITED METABOLIC DISEASE 163755 4% 14% 645
3 ORPHANET JOURNAL OF RARE DISEASES 23721 1% 10% 128
4 BLOOD CELLS MOLECULES AND DISEASES 16668 1% 7% 130
5 HUMAN MUTATION 15979 1% 5% 192
6 CLINICAL GENETICS 12032 1% 4% 189
7 CLINICA CHIMICA ACTA 9639 1% 2% 250
8 ADVANCES IN GENETICS INCORPORATING MOLECULAR GENETIC MEDICINE 9575 0% 19% 28
9 HUMAN MOLECULAR GENETICS 8902 1% 2% 229
10 NEUROPEDIATRICS 8720 1% 5% 101

Author Key Words


chi_square_rank term chi_square shrOfCwithTerm shrOfTermInClass termInClass LCSH search Wikipedia search
1 FABRY DISEASE 1492911 5% 90% 922 Search FABRY+DISEASE Search FABRY+DISEASE
2 GAUCHER DISEASE 1403938 5% 84% 922 Search GAUCHER+DISEASE Search GAUCHER+DISEASE
3 LYSOSOMAL STORAGE DISEASE 1067004 4% 77% 770 Search LYSOSOMAL+STORAGE+DISEASE Search LYSOSOMAL+STORAGE+DISEASE
4 ENZYME REPLACEMENT THERAPY 965942 4% 75% 713 Search ENZYME+REPLACEMENT+THERAPY Search ENZYME+REPLACEMENT+THERAPY
5 MUCOPOLYSACCHARIDOSIS 558859 2% 87% 356 Search MUCOPOLYSACCHARIDOSIS Search MUCOPOLYSACCHARIDOSIS
6 LYSOSOMAL STORAGE DISORDER 504880 2% 74% 379 Search LYSOSOMAL+STORAGE+DISORDER Search LYSOSOMAL+STORAGE+DISORDER
7 BATTEN DISEASE 422662 1% 93% 252 Search BATTEN+DISEASE Search BATTEN+DISEASE
8 NEURONAL CEROID LIPOFUSCINOSIS 386636 1% 88% 245 Search NEURONAL+CEROID+LIPOFUSCINOSIS Search NEURONAL+CEROID+LIPOFUSCINOSIS
9 GLUCOCEREBROSIDASE 377280 1% 84% 248 Search GLUCOCEREBROSIDASE Search GLUCOCEREBROSIDASE
10 METACHROMATIC LEUKODYSTROPHY 359624 1% 92% 216 Search METACHROMATIC+LEUKODYSTROPHY Search METACHROMATIC+LEUKODYSTROPHY

Core articles
The table includes core articles in the class. The following variables is taken into account for the relevance score of an article in a cluster c:
(1) Number of references referring to publications in the class.
(2) Share of total number of active references referring to publications in the class.
(3) Age of the article. New articles get higher score than old articles.
(4) Citation rate, normalized to year.

Classes with closest relation at Level 2


rank cluster_id2 link
1 3877 PHOSPHOLIPIDOSIS//CATIONIC AMPHIPHILIC DRUGS//DRUG INDUCED PHOSPHOLIPIDOSIS
2 1110 GANGLIOSIDES//SIALIC ACID//HUMAN MILK OLIGOSACCHARIDES
3 1876 POMPE DISEASE//GLYCOGEN STORAGE DISEASE//GLYCOGEN STORAGE DISEASE TYPE II
4 2749 ASIALOGLYCOPROTEIN RECEPTOR//APICAL SORTING//MARGARET DYSON VIS
5 2665 CHITINASE//YKL 40//ALPHA GALACTOSIDASE
6 1862 CATHEPSIN B//CATHEPSIN//CATHEPSIN D
7 778 SPHINGOSINE 1 PHOSPHATE//CERAMIDE//SPHINGOLIPIDS
8 2830 COLIPASE//LYSOSOMAL ACID LIPASE//ACAT INHIBITOR
9 3045 DIALYSIS RELATED AMYLOIDOSIS//BETA 2 MICROGLOBULIN//DESTRUCTIVE SPONDYLOARTHROPATHY
10 1147 AUTOPHAGY//BECLIN 1//LC3

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