MCID: GCH015
MIFTS: 52

Gaucher Disease, Type I malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Bone diseases, Metabolic diseases, Cardiovascular diseases

Aliases & Classifications for Gaucher Disease, Type I

About this section
Sources:
50OMIM, 46NIH Rare Diseases, 23GeneTests, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 48Novoseek, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Gaucher Disease, Type I:

Name: Gaucher Disease, Type I 50 48
Gaucher Disease Type 1 46 23 52
Acid Beta-Glucosidase Deficiency 46 68
Glucocerebrosidase Deficiency 46 68
Gaucher Disease Type I 68 25
Gaucher Disease 68 66
Gba Deficiency 46 68
Adult Non-Neuronopathic Gaucher Disease 68
Gaucher Disease, Noncerebral Juvenile 46
Non-Cerebral Juvenile Gaucher Disease 52
 
Noncerebral Juvenile Gaucher Disease 68
Gaucher Disease, Type 1 66
Type 1 Gaucher Disease 48
Glucosidase, Acid Beta 12
Gaucher Disease 1 68
Gd 1 46
Gd I 68
Gd1 68
Gd 68

Characteristics:

Orphanet epidemiological data:

52
gaucher disease type 1:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: All ages

HPO:

62
gaucher disease, type i:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 230800
Orphanet52 ORPHA77259
UMLS via Orphanet67 C1961835
ICD10 via Orphanet29 E75.2
MeSH37 D005776

Summaries for Gaucher Disease, Type I

About this section
OMIM:50 Gaucher disease is an autosomal recessive lysosomal storage disorder due to deficient activity of... (230800) more...

MalaCards based summary: Gaucher Disease, Type I, also known as gaucher disease type 1, is related to gaucher disease, type iii and gaucher disease, type ii, and has symptoms including abnormality of the genital system, splenomegaly and thrombocytopenia. An important gene associated with Gaucher Disease, Type I is GBA (Glucosylceramidase Beta), and among its related pathways are Lysosome and Sphingolipid metabolism. Affiliated tissues include bone, lung and brain, and related mouse phenotypes are renal/urinary system and immune system.

NIH Rare Diseases:46 Gaucher disease type 1, also called non-neuronopathic gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected, is the most common form of gaucher disease. the features of this condition range from mild to severe and may appear anytime from childhood to adulthood.  the condition effects various body parts, primarily the liver, spleen, lungs, bone, and blood cells. gaucher disease is caused by mutations in the gba gene and is inherited in an autosomal recessive pattern. last updated: 2/9/2011

UniProtKB/Swiss-Prot:68 Gaucher disease: A lysosomal storage disease due to deficient activity of beta- glucocerebrosidase and characterized by accumulation of glucosylceramide in the reticulo-endothelial system. Different clinical forms are recognized depending on the presence (neuronopathic forms) or absence of central nervous system involvement, severity and age of onset. Gaucher disease 1: A form of Gaucher disease characterized by hepatosplenomegaly with consequent anemia and thrombopenia, and bone involvement. The central nervous system is not involved.

Related Diseases for Gaucher Disease, Type I

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Graphical network of diseases related to Gaucher Disease, Type I:



Diseases related to gaucher disease, type i

Symptoms for Gaucher Disease, Type I

About this section

Symptoms by clinical synopsis from OMIM:

230800

Clinical features from OMIM:

230800

Symptoms:

 52 (show all 34)
  • proteinuria
  • gingival bleeding
  • hematuria
  • delayed puberty
  • osteopenia
  • bruising susceptibility
  • cirrhosis
  • growth delay
  • ascites
  • abnormality of the myocardium
  • pericardial effusion
  • splenomegaly
  • thrombocytopenia
  • pancytopenia
  • leukopenia
  • anemia
  • hypersplenism
  • abdominal pain
  • anorexia
  • pulmonary hypertension
  • hepatomegaly
  • bone pain
  • delayed skeletal maturation
  • pathologic fracture
  • osteoarthritis
  • osteolysis
  • kyphosis
  • vertebral compression fractures
  • biliary tract obstruction
  • interstitial pulmonary disease
  • hypergammaglobulinemia
  • edema of the lower limbs
  • aseptic necrosis
  • increased bone mineral density

HPO human phenotypes related to Gaucher Disease, Type I:

(show all 50)
id Description Frequency HPO Source Accession
1 abnormality of the genital system hallmark (90%) HP:0000078
2 splenomegaly hallmark (90%) HP:0001744
3 thrombocytopenia hallmark (90%) HP:0001873
4 hepatomegaly hallmark (90%) HP:0002240
5 bone pain hallmark (90%) HP:0002653
6 delayed skeletal maturation hallmark (90%) HP:0002750
7 recurrent fractures hallmark (90%) HP:0002757
8 osteolysis hallmark (90%) HP:0002797
9 reduced bone mineral density hallmark (90%) HP:0004349
10 aseptic necrosis hallmark (90%) HP:0010885
11 increased bone mineral density hallmark (90%) HP:0011001
12 gingival bleeding typical (50%) HP:0000225
13 bruising susceptibility typical (50%) HP:0000978
14 anemia typical (50%) HP:0001903
15 abdominal pain typical (50%) HP:0002027
16 kyphosis typical (50%) HP:0002808
17 bone marrow hypocellularity typical (50%) HP:0005528
18 proteinuria occasional (7.5%) HP:0000093
19 hematuria occasional (7.5%) HP:0000790
20 biliary tract abnormality occasional (7.5%) HP:0001080
21 cirrhosis occasional (7.5%) HP:0001394
22 ascites occasional (7.5%) HP:0001541
23 abnormality of the myocardium occasional (7.5%) HP:0001637
24 sudden cardiac death occasional (7.5%) HP:0001645
25 abnormality of the pericardium occasional (7.5%) HP:0001697
26 leukopenia occasional (7.5%) HP:0001882
27 restrictive ventilatory defect occasional (7.5%) HP:0002091
28 pulmonary hypertension occasional (7.5%) HP:0002092
29 osteoarthritis occasional (7.5%) HP:0002758
30 increased antibody level in blood occasional (7.5%) HP:0010702
31 edema of the lower limbs occasional (7.5%) HP:0010741
32 epistaxis HP:0000421
33 hyperpigmentation of the skin HP:0000953
34 splenomegaly HP:0001744
35 thrombocytopenia HP:0001873
36 pancytopenia HP:0001876
37 anemia HP:0001903
38 hypersplenism HP:0001971
39 pulmonary hypertension HP:0002092
40 dyspnea HP:0002094
41 pulmonary infiltrates HP:0002113
42 hepatomegaly HP:0002240
43 bone pain HP:0002653
44 pathologic fracture HP:0002756
45 vertebral compression fractures HP:0002953
46 erlenmeyer flask deformity of the femurs HP:0004975
47 interstitial pulmonary disease HP:0006530
48 multiple myeloma HP:0006775
49 macular atrophy HP:0007401
50 aseptic necrosis HP:0010885

UMLS symptoms related to Gaucher Disease, Type I:


hyperexplexia, dyspnea, hepatomegaly, bone pain

Drugs & Therapeutics for Gaucher Disease, Type I

About this section

Drugs for Gaucher Disease, Type I (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 20)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1vitamin dPhase 4, Phase 21607
2
AlfacalcidolPhase 45041294-56-85282181
Synonyms:
(5Z,7e)-9,10-Seco-5,7,10(19)-cholestatrien-1alpha,3beta-diol
1-Hydroxycholecalciferol
1-hydroxycholecalciferol
1alpha-Hydroxy-vitamin D3
 
1alpha-hydroxycholecalciferol
1alpha-hydroxyvitamin D3
9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta-diol
Alfacalcidolum
Alsiodol
3
BusulfanPhase 2, Phase 353255-98-12478
Synonyms:
1, 4-Dimethanesulfonoxybutane
1, 4-Dimethylsulfonoxybutane
1, {4-Bis[methanesulfonoxy]butane}
1,4-BUTANEDIOL DIMETHANESULFONATE
1,4-Bis(methanesulfonoxy)butane
1,4-Bis(methanesulfonyloxy)butane
1,4-Bis[methanesulfonoxy]butane
1,4-Butanedi yl dimethanesulfonate
1,4-Butanediol dimethanesulfonate
1,4-Butanediol dimethanesulphonate
1,4-Butanediol dimethylsulfonate
1,4-Butanediol, dimethanesulfonate
1,4-Butanediol, dimethanesulphonate
1,4-Butanediyl dimethanesulfonate
1,4-Di(methylsulfonoxy)butane
1,4-Dimesyloxybutane
1,4-Dimethane sulfonyl oxybutane
1,4-Dimethanesulfonoxybutane
1,4-Dimethanesulfonoxylbutane
1,4-Dimethanesulfonyloxybutane
1,4-Dimethanesulphonyloxybutane
1,4-Dimethylsulfonoxybutane
1,4-Dimethylsulfonyloxybutane
2041 C. B
2041 C. B.
2041 C.B
2041 C.B.
4-((Methylsulfonyl)oxy)butyl methanesulfonate
4-methylsulfonyloxybutyl methanesulfonate
55-98-1
AC-198
AC1L1DRQ
AC1Q4GRQ
AI3-25012
AKOS003614975
AN 33501
Ambap55-98-1
B1022
B2635_FLUKA
B2635_SIGMA
BRN 1791786
BSPBio_001920
BUSULFAN (1,4-BUTANEDIOL, DIMETHANESULFONATE)
Bisulfex
Busilvex
Busulfan
Busulfan (JP15/USP/INN)
Busulfan GlaxoSmithKline Brand
Busulfan Orphan Brand
Busulfan Wellcome
Busulfan Wellcome Brand
Busulfan [INN:JAN]
Busulfano
Busulfano [INN-Spanish]
Busulfanum
Busulfanum [INN-Latin]
Busulfex
Busulphan
Busulphane
Butanedioldimethanesulfonate
Buzulfan
C.B. 2041
C6H14O6S2
CB 2041
CCRIS 418
CHEBI:28901
CHEMBL820
CID2478
CPD000058613
Citosulfan
D002066
D00248
DB01008
DivK1c_000847
EINECS 200-250-2
FT-0083567
G.T. 41
GT 2041
GT 41
Glaxo Wellcome Brand of Busulfan
GlaxoSmithKline Brand of Busulfan
Glyzophrol
HMS1920I07
HMS2091O09
HMS502K09
 
HSDB 7605
I09-1371
IDI1_000847
InChI=1/C6H14O6S2/c1-13(7,8)11-5-3-4-6-12-14(2,9)10/h3-6H2,1-2H3
KBio1_000847
KBio2_000512
KBio2_003080
KBio2_005648
KBio3_001420
KBioGR_000698
KBioSS_000512
LS-1358
Leucosulfan
MLS001076666
MYLERAN (TN)
Mablin
Methanesulfonic
Methanesulfonic acid, tetram ethylene ester
Methanesulfonic acid, tetramethylene ester
Mielevcin
Mielosan
Mielucin
Milecitan
Mileran
Misulban
Mitosan
Mitostan
MolPort-001-783-406
Myeleukon
Myeloleukon
Myelosan
Myelosanum
Mylecytan
Myleran
Myleran Tablets
Myleran tablets
Myleran, Busulfex, Busulfan
Mylerlan
NCGC00090905-01
NCGC00090905-02
NCGC00090905-03
NCGC00090905-04
NCGC00090905-05
NCGC00090905-06
NCGC00090905-07
NCI-C01592
NCI60_041640
NCIMech_000192
NINDS_000847
NSC 750
NSC-750
NSC-750sulphabutin
NSC750
Orphan Brand of Busulfan
Prestwick_989
S1692_Selleck
SAM002554887
SMR000058613
SPBio_000253
SPECTRUM1500152
ST50825921
Spectrum2_000067
Spectrum3_000320
Spectrum4_000259
Spectrum5_000928
Spectrum_000092
Sulfabutin
Sulfabutin (VAN)
Sulphabutin
Tetramethylene Dimethane Sulfonate
Tetramethylene bis(methanesulfonate)
Tetramethylene bis[methanesulfonate]
Tetramethylene dimethane sulfonate
Tetramethylene {bis[methanesulfonate]}
Tetramethylenester Kyseliny Methansulfonove
Tetramethylenester kyseliny methansulfonove
Tetramethylenester kyseliny methansulfonove [Czech]
UNII-G1LN9045DK
WLN: WS1&O4OSW1
Wellcome Brand of Busulfan
Wellcome, Busulfan
X 149
acid, tetramethylene ester
alkylating agent: crosslinks guanine residues
busulfan
butane-1,4-diyl dimethanesulfonate
n-Butane-1,3-di(methylsulfonate)
4
MethylprednisolonePhase 2, Phase 3111883-43-26741
Synonyms:
(6S,8S,9S,10R,11S,13S,14S,17R)-11,17-dihydroxy-17-(2-hydroxyacetyl)-6,10,13-trimethyl-7,8,9,11,12,14,15,16-octahydro-6H-cyclopenta[a]phenanthren-3-one
(6a,11b)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6alpha,11beta)-11,17,21-Trihydroxy-6-methylpregna-1,4-diene-3,20-dione
(6α,11β)-11,17,21-trihydroxy-6-methylpregna-1,4-diene-3,20-dione
.DELTA.1-6.alpha.-Methylhydrocortisone
1-Dehydro-6alpha-methylhydrocortisone
1-dehydro-6alpha-Methylhydrocortisone
1-dehydro-6α-methylhydrocortisone
11-beta,17,21-Trihydroxy-6-alpha-methylpregna-1,4-diene-3,20-dione
11beta,17,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methyl-1,4-pregnadiene-3,20-dione
11beta,17alpha,21-Trihydroxy-6alpha-methylpregna-1,4-diene-3,20-dione
121673-01-6
4-08-00-03498 (Beilstein Handbook Reference)
46436_FLUKA
46436_RIEDEL
570-35-4
6 Methylprednisolone
6-Methylprednisolone
6-alpha-Methylprednisolone
6.alpha.-Methylprednisolone
6923-42-8
6alpha-Methyl-11beta,17alpha,21-trihydroxy-1,4-pregnadiene-3,20-dione
6alpha-Methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
6alpha-Methylprednisolone
6alpha-methyl-11beta,17alpha,21-triol-1,4-pregnadiene-3,20-dione
83-43-2
AC1L1N7A
Artisone-Wyeth
Artisone-wyeth
BPBio1_000174
BRD-K35240538-001-03-1
BRN 2340300
BSPBio_000158
Besonia
Bio-0658
CHEBI:6888
CHEMBL650
CID6741
CPD000058330
D00407
D008775
DB00959
Depo-Medrol (acetate)
Dopomedrol
EINECS 201-476-4
Esametone
Firmacort
HMS1568H20
HMS2090B13
HSDB 3127
LMST02030178
LS-118498
Lemod
M0639_SIGMA
M1665
MEPRDL
MLS000028541
MLS001148159
MLS002207191
Medesone
Medixon
Medlone 21
 
Medrate
Medrol
Medrol (TN)
Medrol Adt Pak
Medrol Dosepak
Medrol adt pak
Medrol dosepak
Medrol, Solu-Medrol, Medrone, Methylprednisolone
Medrone
Mesopren
Metastab
Methyleneprednisolone
Methylprednisolon
Methylprednisolone
Methylprednisolone (JP15/USP/INN)
Methylprednisolone [USAN:INN:BAN:JAN]
Methylprednisolone, 6-alpha
Methylprednisolonum
Methylprednisolonum [INN-Latin]
Metilbetasone
Metilprednisolona
Metilprednisolona [INN-Spanish]
Metilprednisolone
Metilprednisolone [DCIT]
Metilprednisolone [Dcit]
Metipred
Metrisone
Metrocort
Metysolon
Moderin
MolPort-002-528-554
NCGC00022735-03
NCI60_001657
NSC-19987
NSC19987
Nirypan
Noretona
Predni N Tablinen
Prednol- L
Pregna-1,4-diene-3,20-dione, 11beta,17,21-trihydroxy-6alpha-methyl- (8CI)
Prestwick0_000279
Prestwick1_000279
Prestwick2_000279
Prestwick3_000279
Prestwick_622
Promacortine
Reactenol
S1733_Selleck
SAM002589984
SMR000058330
SPBio_002377
Sieropresol
Solomet
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
5
PrednisolonePhase 2, Phase 3111850-24-85755
Synonyms:
(11beta)-11,17,21-Trihydroxypregna-1,4-diene-3,20-dione
.DELTA.1-Cortisol
.DELTA.1-Dehydrocortisol
.DELTA.1-Dehydrohydrocortisone
.DELTA.1-Hydrocortisone
.delta.-Cortef
.delta.-Stab
1,2-Dehydrohydrocortisone
1,4-Pregnadiene-11beta,17alpha,21-triol-3,20-dione
1,4-Pregnadiene-3,20-dione-11beta,17alpha,21-triol
1-Dehydrocortisol
1-Dehydrohydrocortisone
3,20-dioxo-11beta,17alpha,21-Trihydroxy-1,4-pregnadiene
46656_FLUKA
46656_RIEDEL
50-24-8
58201-11-9
8056-11-9
AC-1773
AC1L1L2E
Ak-Pred
Ak-Tate
Alphadrol
Articulose-50
BPBio1_000164
BRD-K98039984-001-03-0
BRN 1354103
BSPBio_000148
Bio-0666
Bubbli-Pred
C07369
CCRIS 980
CHEBI:8378
CHEMBL131
CID5755
CO-Hydeltra
CPD000718761
Co-Hydeltra
Codelcortone
Cordrol
Cortalone
Cotogesic
Cotolone
D00472
D011239
DB00860
Decaprednil
Decortin H
Delcortol
Delta F
Delta(1)-dehydrohydrocortisone
Delta-Cortef
Delta-Cortef (TN)
Delta-Ef-Cortelan
Delta-Stab
Delta-stab
Deltacortenol
Deltacortril
Deltacortril Enteric
Deltahydrocortisone
Deltasolone
Deltisilone
Depo-Medrol
Derpo PD
Derpo Pd
Dexa-Cortidelt Hostacortin H
Dexa-Cortidelt hostacortin H
Di Adreson F
Di-Adreson F
Di-Adreson-F
Di-adreson F
DiAdresonF
Dicortol
Donisolone
Dydeltrone
EINECS 200-021-7
Eazolin D
Econopred
Econopred Plus
Erbacort
Erbasona
Estilsona
Fernisolone
Fernisolone P
Fernisolone-P
Flamasone
HMS1568H10
HMS2090J05
HSDB 3385
Hostacortin H
Hydeltra
Hydeltra-Tba
Hydeltrasol
Hydeltrone
Hydrodeltalone
Hydrodeltisone
Hydroretrocortin
Hydroretrocortine
I-Pred
Inflamase Forte
Inflamase Mild
K 1557
Key-Pred
Klismacort
LMST02030179
LS-7669
Lentosone
Lite Pred
M-Predrol
 
MLS001304083
MLS002154250
MLS002207037
Medrol
Medrol Acetate
Metacortandralone
Methylprednisolone Acetate
Meti-Derm
Meticortelone
Metreton
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Ophtho-Tate
Orapred
P0152_SIGMA
P0637
P6004_SIGMA
PRDL
PRED-G
Panafcortelone
Paracortol
Paracotol
Pediapred
Poly-Pred
Precortalon
Precortancyl
Precortilon
Precortisyl
Pred Forte
Pred Mild
Predair
Predair A
Predair Forte
Predalone 50
Predalone T.B.A.
Predate
Predate Tba
Predate-50
Predcor-25
Predcor-50
Predcor-Tba
Predisolone Sodium Phosphate
Predne-Dome
Prednelan
Predni-Dome
Prednicen
Predniliderm
Predniretard
Prednis
Prednisolona
Prednisolona [INN-Spanish]
Prednisolone (JP15/USP/INN)
Prednisolone (anhydrous)
Prednisolone Acetate
Prednisolone Sodium Phosphate
Prednisolone Tebutate
Prednisolone [INN:BAN:JAN]
Prednisolonum
Prednisolonum [INN-Latin]
Predonin
Predonine
Prelone
Prenolone
Prestwick0_000274
Prestwick1_000274
Prestwick2_000274
Prestwick3_000274
Prestwick_404
Rolisone
S1737_Selleck
SAM002264639
SMR000718761
SPBio_002367
Scherisolon
Solone
Steran
Sterane
Sterolone
Supercortisol
UNII-9PHQ9Y1OLM
Ulacort
Ultra Pred
Ultracorten H
Ultracortene H
Ultracortene-H
Ultracortene-Hydrogen
Ultracortene-hydrogen
ZINC03833821
component of Ataraxoid
component of K-Predne-Dome
delta(1)-Cortisol
delta(1)-Dehydrocortisol
delta(1)-Dehydrohydrocortisone
delta(1)-Hydrocortisone
delta(sup 1)-Cortisol
delta(sup 1)-Dehydrocortisol
delta(sup 1)-Dehydrohydrocortisone
delta(sup 1)-Hydrocortisone
delta-dehydrocortisol
delta-dehydrohydrocortisone
delta-hydrocortisone
prednisolone
6PREDNISOLONE ACETATEPhase 2, Phase 31118
7Alkylating AgentsPhase 2, Phase 34573
8
CyclophosphamidePhase 2, Phase 3275650-18-0, 6055-19-22907
Synonyms:
(+-)-Cyclophosphamide
(-)-Cyclophosphamide
(RS)-Cyclophosphamide
1-(bis(2-chloroethyl)amino)-1-oxo-2-aza-5-oxaphosphoridine
1-Bis(2-chloroethyl)amino-1-oxo-2-aza-5-oxaphosphoridin
2-[Bis(2-chloroethylamino)]-tetrahydro-2H-1,3,2-oxazaphosphorine-2-oxide
4-Hydroxy-cyclophosphan-mamophosphatide
50-18-0
60007-95-6
6055-19-2 (monohydrate)
75526-90-8
AC1L1EQQ
AI3-26198
ASTA
ASTA B518
Anhydrous cyclophosphamide
Asta B 518
B 518
B-518
BRN 0011744
BSPBio_002099
Bis(2-chloroethyl)phosphoramide cyclic propanolamide ester
C 0768
C07888
C7H15Cl2N2O2P
CB 4564
CB-4564
CCRIS 188
CHEBI:4027
CHEMBL32520
CHEMBL88
CID2907
CP
CPA
CTX
CY
Ciclofosfamida
Ciclofosfamida [INN-Spanish]
Ciclofosfamide
Ciclophosphamide
Ciclophosphamide [INN]
Clafen
Claphene
Cycloblastin
Cyclophosphamid
Cyclophosphamide
Cyclophosphamide (INN)
Cyclophosphamide (TN)
Cyclophosphamide (anhydrous form)
Cyclophosphamide (anhydrous)
Cyclophosphamide Monohydrate
Cyclophosphamide Sterile
Cyclophosphamide anhydrous
Cyclophosphamide, (+-)-Isomer
Cyclophosphamides
Cyclophosphamidum
Cyclophosphamidum [INN-Latin]
Cyclophosphan
Cyclophosphane
Cyclophosphanum
Cyclophosphoramide
Cyclostin
Cyklofosfamid
Cyklofosfamid [Czech]
Cytophosphan
Cytophosphane
Cytoxan
Cytoxan (TN)
Cytoxan Lyoph
D,L-Cyclophosphamide
D07760
 
DB00531
DivK1c_000246
EINECS 200-015-4
EU-0100238
Endoxan
Endoxan R
Endoxan-Asta
Endoxana
Endoxanal
Endoxane
Enduxan
Genoxal
HMS2090A12
HSDB 3047
Hexadrin
IDI1_000246
KBio1_000246
KBio2_001338
KBio2_003906
KBio2_006474
KBio3_001319
KBioGR_000888
KBioSS_001338
LS-1302
LS-99787
Ledoxina
Lopac-C-0768
Lopac0_000238
Lyophilized Cytoxan
Mitoxan
MolPort-001-783-420
N,N-Bis(2-chloroethyl)-1,3,2-oxazaphosphinan-2-amine 2-oxide
N,N-Bis(2-chloroethyl)tetrahydro-2H-1,3,2-oxazaphosphorin-2-amine 2-oxide
NCGC00015209-01
NCGC00015209-03
NCGC00015209-06
NCGC00091741-02
NCGC00091741-03
NCI-C04900
NCI60_002097
NINDS_000246
NSC 26271
NSC-26271
NSC26271
NSC273033
NSC273034
Neosar
Occupation, cyclophosphamide exposure
Procytox
RCRA waste no. U058
Rcra Waste Number U058
Rcra waste number U058
Revimmune
S1217_Selleck
SK 20501
SPBio_001071
STK177249
STOCK2S-91217
Semdoxan
Sendoxan
Senduxan
Spectrum2_001146
Spectrum3_000370
Spectrum4_000304
Spectrum5_000795
Spectrum_000858
UNII-6UXW23996M
WLN: T6MPOTJ BO BN2G2G
Zyklophosphamid
Zyklophosphamid [German]
bis(2-Chloroethyl)phosphami de cyclic propanolamide
bis(2-Chloroethyl)phosphamide cyclic propanolamide ester
cyclophosphamide
9
1-DeoxynojirimycinPhase 32319130-96-21374
Synonyms:
(2R,3R,4R,5S)-2-(Hydroxymethyl)piperidine-3,4,5-triol
1 deoxynojirimycin
1,5-Dideoxy-1,5-imino-D-glucitol, 9CI
1,5-deoxy-1,5-imino-D-mannitol
1,5-dideoxy-1,5-imino-D-glucitol
1-DEOXY-NOJIRIMYCIN
1-Deoxymannojirimycin
1-Deoxynojirimycin
1-Deoxynojirimycin (DNJ)
1-deoxy-nojirimycin
 
1-deoxynojirimycin
1hxk
1oim
5-amino-1,5-dideoxy-D-glucopyranose
Antibiotic S-GI
D-1-deoxynojirimycin
DNJ
Deoxynojirimycin
Moranoline
NOJ
S-GI
10
MiglustatPhase 32172599-27-051634
Synonyms:
(2R,3R,4R,5S)-1-butyl-2-(hydroxymethyl)piperidine-3,4,5-triol
1,5-Dideoxy-1,5-N-butylimino-D-glucitol
134282-77-2
72599-27-0
AC1L1BHJ
BuDNJ
Butyldeoxynojirimycin
CHEBI:49779
CHEBI:50381
CHEMBL1029
CID51634
D05032
DB00419
HMS2090N20
LS-116261
Miglustat
Miglustat (USAN/INN)
Miglustat [USAN]
Miglustat, Hydrochloride
Miglustatum
N-(N-Butyl)deoxynojirimycin
N-(n-Butyl)deoxynojirimycin
N-(n-butyl)-1,5-dideoxy-1,5-imino-D-glucitol
 
N-Bu-DNJ
N-Butyl deoxynojirimycin
N-Butyl-1-deoxynojirimycin
N-Butyl-DNJ
N-Butyl-deoxynojirimycin
N-Butyldeoxynojirimycin
N-Butylmoranoline
N-butyl-1-deoxynojirimycin
NB-DNJ
NB-dnj
NBV
OGT 918
OGT-918
SC 48334
SC-48334
SC48334
UNII-ADN3S497AZ
Vevesca
Zavesca
Zavesca (TN)
miglustatum
n-Butyl deoxynojirimycin
n-Butyl dnj
nchembio.81-comp12
nchembio850-comp5
11
eliglustatPhase 3, Phase 211491833-29-523652731
Synonyms:
 
N-[(1R,2R)-1-(2,3-Dihydro-1,4-benzodioxin-6-yl)-1-hydroxy-3-(1-pyrrolidinyl)-2-propanyl]octanamide
12
BenzocainePhase 317941994-09-7, 94-09-72337
Synonyms:
(p-(Ethoxycarbonyl)phenylamine
06952_FLUKA
112909_ALDRICH
112909_SIAL
1333-08-0
23239-88-5
23239-88-5 (hydrochloride)
4 Aminobenzoic Acid Ethyl Ester
4-(Ethoxycarbonyl)aniline
4-(Ethoxycarbonyl)phenylamine
4-14-00-01129 (Beilstein Handbook Reference)
4-Aminobenzoate
4-Aminobenzoic acid
4-Aminobenzoic acid ethyl ester
4-Aminobenzoic acid, ethyl ester
4-Carbethoxyaniline
4-amino-benzoic acid ethyl ester
4-aminobenzoic acid ethyl ester
71123-91-6
94-09-7
94-09-7 (Parent)
A0271
AB00051923
AC1L1DGC
AC1Q341A
AC1Q64JE
AE-562/40377256
AI3-02081
AKOS000119763
AR-1H9065
Acetate, Benzocaine
Aethoform
Aethylium paraminobenzoicum
Amben ethyl ester
Americaine
Anaesthan-syngala
Anaesthesin
Anaesthesinum
Anaesthin
Anestezin
Anestezin [Russian]
Anesthesin
Anesthesine
Anesthone
BB_SC-0019
BPBio1_001017
BRD-K75466013-001-05-2
BRN 0638434
BSPBio_000923
BSPBio_001908
Baby Anbesol
Bensokain
Benzoak
Benzocaina
Benzocaina [INN-Spanish]
Benzocaine
Benzocaine (USP/INN)
Benzocaine Acetate
Benzocaine Formate
Benzocaine Hydrobromide
Benzocaine Hydrochloride
Benzocaine Methanesulfonate
Benzocaine [INN:BAN]
Benzocainum
Benzocainum [INN-Latin]
Benzoic acid, 4-amino-, ethyl ester
Benzoic acid, 4-amino-, ethyl ester, hydrochloride
Benzoic acid, amino-, ethyl ester
Benzoic acid, p-amino-, ethyl ester
C07527
CAS-94-09-7
CHEBI:116735
CHEMBL278172
CID2337
Caswell No. 430A
Chloraseptic
D001566
D00552
DB01086
Dermoplast
Diet Ayds
DivK1c_000932
E1501_SIGMA
EINECS 202-303-5
EPA Pesticide Chemical Code 097001
ETHYL-P-AMINOBENZOATE
Ethoform
Ethoforme
Ethyl 4-aminobenzoate
Ethyl 4-aminobenzoate hydrochloride
Ethyl 4-aminobenzoic acid
Ethyl Aminobenzoate
Ethyl PABA
 
Ethyl aminobenzoate
Ethyl aminobenzoate (JP15)
Ethyl aminobenzoate (VAN)
Ethyl aminobenzoic acid
Ethyl p-Aminobenzoate
Ethyl p-Aminophenylcarboxylate
Ethyl p-aminobenzenecarboxylate
Ethyl p-aminobenzoate
Ethyl p-aminobenzoic acid
Ethyl p-aminophenylcarboxylate
Ethylester kyseliny p-aminobenzoove
Ethylester kyseliny p-aminobenzoove [Czech]
Ethylis aminobenzoas
Formate, Benzocaine
HMS1570O05
HMS1920G09
HMS2091M11
HMS502O14
HSDB 7225
Hurricaine
Hydrobromide, Benzocaine
Hydrochloride, Benzocaine
I05-0204
IDI1_000932
Identhesin
KBio1_000932
KBio2_000474
KBio2_003042
KBio2_005610
KBio3_001408
KBioGR_000658
KBioSS_000474
Keloform
LS-35847
MLS001331704
MLS002153970
Methanesulfonate, Benzocaine
MolPort-000-871-526
NCGC00016352-01
NCGC00094598-01
NCGC00094598-02
NINDS_000932
NSC 122792
NSC 41531
NSC41531
NSC4688
Norcain
Norcaine
Norcainum
Oprea1_750694
Oprea1_827402
Ora-jel
Orabase-B
Orthesin
Otocain
Outgro
Parathesin
Parathesin (TN)
Parathesine
Prestwick0_000712
Prestwick1_000712
Prestwick2_000712
Prestwick3_000712
Prestwick_991
SMR000059025
SPBio_000134
SPBio_002844
SPECTRUM1500139
STK043620
Slim Mint Gum
Solarcaine
Solu H
Spectrum2_000117
Spectrum3_000314
Spectrum4_000249
Spectrum5_000860
Spectrum_000074
Topcaine
UNII-U3RSY48JW5
WLN: ZR DVO2
ZINC12358719
benzocaine
ethylaminobenzoate-4
h-4-abz-oet
nchembio.182-comp4
p-(Ethoxycarbonyl)aniline
p-Aminobenzoate
p-Aminobenzoic acid
p-Aminobenzoic acid ethyl ester
p-Aminobenzoic acid, ethyl ester
p-Aminobenzoic ethyl ester
p-Carbethoxyaniline
p-Ethoxycarboxylic Aniline
p-Ethoxycarboxylic aniline
13tannic acidNutraceuticalPhase 31794
14
CalcitriolPhase 219432222-06-3134070, 5280453
Synonyms:
(1R,3S)-5-{2-[(1R,3aS,7aR)-1-((R)-5-Hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
(1R,3S,5Z)-5-[(2E)-2-[(1R,3aS,7aR)-1-[(2R)-6-hydroxy-6-methylheptan-2-yl]-7a-methyl-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidenecyclohexane-1,3-diol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1S,3R,5Z,7E)-9,10-secocholesta-5,7,10-triene-1,3,25-triol
(1S,3R,5Z,7e)-9,10-Secocholesta-5,7,10-triene-1,3,25-triol
(1alpha,3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(1alpha,3beta,5Z,7e)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
(3b,5Z,7E)-9,10-Secocholesta-5,7,10(19)-trienetriol
(5Z,7E)-(1S,3R)-9,10-secocholesta-5,7,10(19)-triene-1,3,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1-alpha,3-beta,25-triol
(5Z,7E)-9,10-Secocholesta-5,7,10(19)-triene-1alpha,3beta,25-triol
(5Z,7e)-(1S,3R)-9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol
1 alpha,25-Dihydroxyvitamin D3
1,25 (OH)2 D3
1,25 Dihydroxycholecalciferol
1,25(OH)2-20epi-D3
1,25(OH)2D3 & CD4
1,25(OH2)D3
1,25-(OH)2-D3
1,25-(OH)2D3
1,25-DHCC
1,25-DIHYDROXYCHOLECALCIFEROL
1,25-Dihydroxycholecalciferol
1,25-Dihydroxycholecaliferol
1,25-Dihydroxyvitamin D
1,25-Dihydroxyvitamin D3
1,25-dihydroxy vitamin D3
1,25-dihydroxy-20-epi-Vitamin D3
1,25-dihydroxycholecalciferol
1,25D3
1-alpha,-1,25-Dihydroxyvitamin D3
1-alpha,25-Dihydroxycholecalciferol
1-alpha,25-Dihydroxyvitamin D3
1-alpha-25-Dihydroxyvitamin D3
1-alpha-25-dihydroxyvitamin D3
1.Alpha.,25-Dihydroxy-26,27-hexadeuterovitamin D3
17936_FLUKA
17936_SIGMA
1a,25-(OH)2D3
1a,25-Dihydroxycholecalciferol
1a,25-Dihydroxyvitamin D3
1alpha,25(OH)2-D3
1alpha,25(OH)2D3
1alpha,25-Dihydroxycholecalciferol
1alpha,25-Dihydroxyvitamin D
1alpha,25-Dihydroxyvitamin D3
1db1
1α,25(OH)2D3
1α,25-dihydroxycholecalciferol
1α,25-dihydroxyvitamin D3
20-epi-1alpha,25-dihydroxycholecaliferol
25-Dihydroxycholecalciferol
32222-06-3
5-{2-[1-(5-hydroxy-1,5-dimethyl-hexyl)-7a-methyl-octahydro-inden-4-ylidene]-ethylidene}-4-methylene-cyclohexane-1,3-diol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha,3beta,25-triol
9,10-Secocholesta-5,7,10(19)-triene-1,3,25-triol, (1.alpha.,3.beta,.5Z,7E)- & CD4
9,10-seco(5Z,7E)-5,7,10(19)-cholestatriene-1alpha, 3beta, 25-triol
AC-1859
AC1NQX1S
 
Ambap32222-06-3
Asentar
BCBcMAP01_000160
BML2-E03
BSPBio_001287
C01673
CCRIS 5522
CD-2027
CHEBI:17823
CHEMBL846
CID5280453
CPD000466393
Calcijex
Calcijex, Silkis, Rocaltrol, Topitriol, Cholecalciferol,Calcitriol
Calcitriol
Calcitriol (JAN/USAN/INN)
Calcitriol [USAN:INN:BAN:JAN]
Calcitriolum
Calcitriolum [INN-Latin]
D00129
D1530_SIGMA
DN 101
DN-101
Decostriol
Dihydroxyvitamin D3
EINECS 250-963-8
HMS1361A09
HMS1791A09
HMS1989A09
HMS2051F06
HMS2089N03
HSDB 3482
IDI1_033757
LMST03020258
LS-53093
MC-1288
MC1288
MLS000759536
MLS001424122
MolPort-002-045-698
NCGC00161327-01
NCGC00161327-04
Ro 21-5535
Ro 215535
Ro-21-5535
Rocaltrol
Rocaltrol (TN)
S1466_Selleck
SAM001246772
SMR000466393
Silkis
Soltriol
Spectrum5_002061
Topitriol
Toptriol
U 49562
Vectical
ZINC03924790
calcitriol
vit D
15
AcetylcysteinePhase 2304616-91-112035
Synonyms:
(2R)-2-acetylamino-3-Sulfanylpropanoic acid
(R)-2-acetylamino-3-Mercaptopropanoic acid
(R)-Mercapturic acid
2-Acetylamino-3-mercapto-propionate
2-Acetylamino-3-mercapto-propionic acid
ACC
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
Fluimucil
Flumucetin
 
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Lysox
Mercapturic acid
Mucolysin
Mucomyst
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
NAC
Parvolex
Sodium 2-acetamido-3-mercaptopropionate
16
AmbroxolPhase 1, Phase 21418683-91-5
Synonyms:
4-(((2-Amino-3,5-dibromophenyl)methyl)amino)cyclohexanol
4-(2-Amino-3,5-dibromo-benzylamino)-cyclohexanol
4-[(2-Amino-3,5-dibromobenzyl)amino]cyclohexanol
Amboxol
Ambroxol
Ambroxol hcl
Ambroxolum
Bisolvon metabolite vIII
 
Bromhexine metabolite vIII
Bromhexine-metabolite vIII
N-(2-Amino-3,4-dibromociclohexil)-trans-4-aminociclohexanol
N-(2-Amino-3,4-dibromocyclohexyl)-trans-4-aminocyclohexanol
Tabcin
Tabcin (TN)
trans-4-((2-Amino-3,5-dibromobencil)amino)ciclohexanol
trans-4-((2-Amino-3,5-dibromobenzyl)amine)cyclohexanol
trans-4-((2-Amino-3,5-dibromobenzyl)amino)cyclohexanol
17
Methamphetamine216537-46-210836
Synonyms:
(+ )-Methylamphetamine
(+ )-methylamphetamine
(+)-(S)-Deoxyephedrine
(+)-(S)-N-alpha-Dimethylphenethylamine
(+)-(S)-N-alpha-dimethylphenethylamine
(+)-(S)-N-α-dimethylphenethylamine
(+)-(S)-deoxyephedrine
(+)-(s)-deoxyephedrine
(+)-(s)-n-alpha-dimethylphenethylamine
(+)-2-(N-Methylamino)-1-phenylpropane
(+)-Methylamphetamine
(+)-N,alpha-Dimethyl-beta-phenylethylamine
(+)-N,alpha-Dimethylphenethylamine
(+)-N,alpha-dimethyl-beta-phenylethylamine
(+)-N,alpha-dimethylphenethylamine
(+)-N-Methylamphetamine
(+)-N-methylamphetamine
(+)-methamphetamine
(+)-methylamphetamine
(+)-n,alpha-dimethyl-beta-phenylethylamine
(+)-n,alpha-dimethylphenethylamine
(+)-n-methylamphetamine
(2S)-N-methyl-1-phenylpropan-2-amine
(AlphaS)-N,alpha-dimethylbenzeneethanamine
(S)-(+)-Deoxyephedrine
(S)-(+)-Methamphetamine
(S)-(+)-N,alpha,dimethylphenethylamine
(S)-(+)-deoxyephedrine
(S)-(+)-methamphetamine
(S)-Methamphetamine
(S)-Methylamphetamine
(S)-N,alpha-Dimethylbenzeneethanamine
(S)-N,alpha-Dimethylbenzeneethanoamine
(S)-N,alpha-dimethylbenzeneethanamine
(S)-N,alpha-dimethylbenzeneethanoamine
(S)-N,α-dimethylbenzeneethanamine
(S)-methamphetamine
(S)-methylamphetamine
(alphaS)-N,alpha-dimethylbenzeneethanamine
(s)-(+)-deoxyephedrine
(s)-(+)-methamphetamine
(s)-(+)-n,alpha,dimethylphenethylamine
(s)-methamphetamine
(s)-methylamphetamine
(s)-n,alpha-dimethylbenzeneethanamine
(s)-n,alpha-dimethylbenzeneethanoamine
(αS)-N,α-dimethylbenzeneethanamine
1-Phenyl-2-methylamino-propan
1-Phenyl-2-methylamino-propan [German]
1-Phenyl-2-methylaminopropane
139-47-9
14611-50-8
1690-86-4
2S-(+)-Methamphetamine
45952-89-4
537-46-2
AC1L1W1Z
AC1Q4SVR
B40
Benzeneethanamine, N,alpha-dimethyl-, (S)- (9CI)
Benzeneethanamine, N,alpha-dimethyl-, (alphaS)- (9CI)
C07164
C10H15N
CHEBI:6809
CHEMBL1201201
CID10836
Crank
Crank [Street Name]
Crystal Meth
Crystal Meth [Street Name]
D-(S)-Methamphetamine
D-(s)-methamphetamine
D-1-Phenyl-2-methylaminopropan
D-1-Phenyl-2-methylaminopropan [German]
D-1-Phenyl-2-methylaminopropane
D-Deoxyephedrine
D-Desoxyephedrine
D-Methamphetamine
D-Methylamphetamine
D-N,alpha-Dimethylphenethylamine
D-N,alpha-dimethylphenethylamine
D-N-Methylamphetamine
D-Phenylisopropylmethylamine
D-deoxyephedrine
D-desoxyephedrine
D-methamphetamine
D-methylamphetamine
 
D-n,alpha-dimethylphenethylamine
D-n-methylamphetamine
D-phenylisopropylmethylamine
D08187
DB01577
DEA No. 1105
Desoxyephedrine hydrochloride
Desoxyn
Desyphed
Desyphed hydrochloride
Dextromethamphetamine
EINECS 208-668-7
HSDB 3359
ICE [Street Name]
Ice
L-Methamphetamine
L-methamphetamine
LS-103331
METHAMPHETAMINE
Metamfetamina
Metamfetamina [INN-Spanish]
Metamfetamina [inn-spanish]
Metamfetamine
Metamfetamine (INN)
Metamfetamine [INN]
Metamfetamine-m
Metamfetaminum
Metamfetaminum [INN-Latin]
Metamfetaminum [Latin]
Metamfetaminum [inn-latin]
Metamphetamine
Metanfetamina
Metanfetamina [INN-Spanish]
Metanfetamina [Spanish]
Metanfetamina [inn-spanish]
Meth
Meth (Street Name)
Methamphetamine
Methamphetamine, its salts, isomers, and salts of its isomers
Methamphetaminum
Methamphetaminum [INN-Latin]
Methamphetaminum [JP]
Methamphetaminum [inn-latin]
Methyl-.beta.-phenylisopropylamine
Methyl-beta-phenylisopropylamine
Methylamphetamine
MolPort-001-794-405
Métamfétamine
N-Methyl-1-phenyl-2-propanamine
N-Methyl-beta-phenylisopropylamin
N-Methyl-beta-phenylisopropylamin [German]
N-Methyl-beta-phenylisopropylamin [german]
N-Methyl-beta-phenylisopropylamine
N-Methylamphetamine
N-methyl-beta-phenylisopropylamin [german]
N-methyl-beta-phenylisopropylamine
N-methylamphetamine
NSC 25115
NSC25115
Norodin
PDSP1_001404
PDSP1_001405
PDSP2_001388
PDSP2_001389
Phenethylamine, N,alpha-dimethyl-, (S)-(+)- (8CI)
S-(+)-Methamphetamine
S-(+)-methamphetamine
Speed
Speed [Street Name]
Stimulex
UNII-44RAL3456C
WLN: 1MY1&1R -D
d-(S)-Methamphetamine
d-1-Phenyl-2-methylaminopropan [German]
d-1-phenyl-2-methylaminopropane
d-Deoxyephedrine
d-Desoxyephedrine
d-Methamphetamine
d-Methylamphetamine
d-N,.alpha.-Dimethylphenethylamine
d-N-Methylamphetamine
d-N-methylamphetamine
d-Phenylisopropylmethylamine
d-deoxyephedrine
d-desoxyephedrine
d-phenylisopropylmethylamine
desohyephedrine
methyl-β-phenylisopropylamine
18
Dopamine367851-61-6, 62-31-7681
Synonyms:
(3H)-Dopamine
.Beta.-(3,4-Dihydroxyphenyl)ethylamine hydrochloride
.alpha.-(3,4-Dihydroxyphenyl)-.beta.-aminoethane
1,2-Benzenediol, 4-(2-aminoethyl)- (9CI)
1,2-Benzenediol, 4-(2-aminoethyl)-, hydrochloride
1,2-Benzenediol, 4-(2-aminoethyl)-, labeled with tritium
153C5321-5FEE-4B0B-8925-F388F0EEEBD1
2-(3,4-Dihydroxyphenyl)ethylamine
2-(3,4-dihydroxyphenyl)ethylamine
2-benzenediol
3,4-Dihydroxyphenethylamine
3,4-Dihydroxyphenethylamine hydrochloride
3,4-Dihydroxyphenylethylamine
3,4-dihydroxyphenethylamine
3-Hydroxtyramine
3-Hydroxytyramine
3-Hydroxytyramine Hydrobromide
3-Hydroxytyramine hydrochloride
4-(2-Aminoethyl)-1,
4-(2-Aminoethyl)-1,2-benzenediol
4-(2-Aminoethyl)-1,2-bezenediol
4-(2-Aminoethyl)-Pyrocatechol
4-(2-Aminoethyl)benzene-1,2-diol
4-(2-Aminoethyl)catechol
4-(2-Aminoethyl)pyrocatechol
4-(2-Aminoethyl)pyrocatechol hydrochloride
4-(2-aminoethyl)-pyrocatechol
50444-17-2
51-61-6
62-31-7 (HYDROCHLORIDE)
AC1L19S5
AC1Q54AX
AC1Q54AY
AKOS003790978
ASL 279
BIDD:ER0506
BPBio1_001123
BSPBio_001932
Biomol-NT_000001
C03758
CHEBI:18243
CHEMBL59
CID681
D07870
DB00988
Deoxyepinephrine
DivK1c_000780
Dopamin
Dopamina
Dopamina [INN-Spanish]
Dopamine
Dopamine (INN)
Dopamine (USAN)(*hydrochloride*)
Dopamine [INN:BAN]
Dopaminum
Dopaminum [INN-Latin]
Dopastat
Dophamine
Dynatra
EINECS 200-110-0
HSDB 3068
Hydroxytyramin
Hydroxytyramine
IDI1_000780
IP 498
Intropin
Intropin [*hydrochloride*]
KBio1_000780
 
KBio2_001492
KBio2_002388
KBio2_002484
KBio2_004060
KBio2_004956
KBio2_005052
KBio2_006628
KBio2_007524
KBio2_007620
KBio3_001152
KBio3_002867
KBio3_002962
KBioGR_001129
KBioGR_002388
KBioGR_002484
KBioSS_001492
KBioSS_002393
KBioSS_002491
KW-3-060
L-DOPAMINE
L000232
LDP
LS-159
Lopac-H-8502
Lopac0_000586
Medopa (TN)
MolPort-001-641-000
NCGC00015519-01
NCGC00015519-08
NCGC00096050-01
NCGC00096050-02
NCGC00096050-03
NCGC00096050-04
NCGC00096050-05
NINDS_000780
NSC 173182
NSC169105
NSC173182
Oprea1_088821
Oxytyramine
Pyrocatechol, 4-(2-aminoethyl)- (8CI)
Pyrocatechol, 4-(2-aminoethyl)-, hydrochloride
Revimine
Revivan
SPBio_001205
SPECTRUM1505155
ST048774
STK301601
Spectrum2_001023
Spectrum3_000406
Spectrum4_000525
Spectrum5_000945
Spectrum_001012
UNII-VTD58H1Z2X
UPCMLD0ENAT5885989:001
a-(3,4-Dihydroxyphenyl)-b-aminoethane
alpha-(3,4-Dihydroxyphenyl)-beta-aminoethane
cMAP_000036
cMAP_000065
dopamine
hydroxytyramine
intropin
m-Hydroxytyramine hydrochloride
nchembio.105-comp9
nchembio.107-comp4
nchembio.284-comp1
nchembio.78-comp16
nchembio.89-comp3
nchembio705-8
nchembio801-comp8
19interferons2112
20
imidacloprid154105827-78-986418
Synonyms:
(e)-imidacloprid
(z)-imidacloprid
1-((6-Chloro-3-pyridyl)methyl)-N-nitro-2-imidazolidinimine
1-(2-Chloro-5-pyridylmethyl)-2-(nitroimino)imidazolidine
1-[(6-Chloro-3-pyridinyl)methyl]-4,5-dihydro-N-nitro-1H-imidazol-2-amine, 9CI
Admire
Advantage
Advantage flea adulticide
Bayer brand of imidacloprid
 
Confidor
Confidor 200 SL
Confidor SL
Gaucho
Imidacloprid (old RN)
Imidacloprid [iso]
Merit
Merit (insecticide)
Premise 75
Provado

Interventional clinical trials:

(show top 50)    (show all 51)
idNameStatusNCT IDPhase
1Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
2A Multicenter Study of the Efficacy of Cerezyme in Testing Skeletal Disease in Patients With Type I Gaucher Disease.CompletedNCT00365131Phase 4
3The Effect of Velaglucerase Alfa (Vpriv) on Skeletal Development in Pediatric Gaucher DiseaseRecruitingNCT02528617Phase 4
4This Study is to Evaluate the Effect of Velaglucerase Alfa (VPRIV®) on Patients With Type 1 Gaucher Disease Through the IV Administration of VPRIV® Over 2 YearsRecruitingNCT02574286Phase 4
5Oral Miglustat in Adult Patients With Stable Type 1 Gaucher DiseaseCompletedNCT00319046Phase 3
6A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)CompletedNCT00891202Phase 3
7A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)CompletedNCT00943111Phase 3
8Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02770625Phase 3
9A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease to Evaluate Once Daily Versus Twice Daily Dosing (EDGE)CompletedNCT01074944Phase 3
10An Open-Label Extension Study of GA-GCB ERT in Patients With Type 1 Gaucher DiseaseCompletedNCT00635427Phase 3
11Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
12A Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) Enzyme Replacement Therapy in Gaucher DiseaseCompletedNCT00430625Phase 3
13Study of Gene-Activated® Human Glucocerebrosidase (GA-GCB) ERT Compared With Imiglucerase in Type I Gaucher DiseaseCompletedNCT00553631Phase 3
14Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
15Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
16Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
17Skeletal Response to Eliglustat in Patients With Gaucher DiseaseRecruitingNCT02536755Phase 3
18The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseWithdrawnNCT01161914Phase 3
19A Long-Term Extension Study of AT2101 in Type 1 Gaucher PatientsCompletedNCT00813865Phase 2
20A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsCompletedNCT00358150Phase 2
21A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02053896Phase 2
22Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
23Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)CompletedNCT00391625Phase 1, Phase 2
24Bone Response to Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001416Phase 2
25Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseCompletedNCT01685216Phase 1, Phase 2
26A Study of Oral AT2101 in Treatment-naive Patients With Gaucher DiseaseCompletedNCT00446550Phase 2
27Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)RecruitingNCT02583672Phase 2
28GZ/SAR402671 in Combination With Cerezyme in Adult Patients With Gaucher Disease Type 3Not yet recruitingNCT02843035Phase 2
29Clinical Trial of Ambroxol in Patients With Type I Gaucher DiseaseSuspendedNCT01463215Phase 1, Phase 2
30PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseCompletedNCT00001410Phase 1
31Phase I Study of Retrovirally Mediated Transfer of the Human Glucocerebrosidase Gene Into Peripheral Blood Stem Cells for Autologous Transplantation in Patients With Type I Gaucher DiseaseCompletedNCT00004294Phase 1
32Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsCompletedNCT00001234Phase 1
33Human Placental-Derived Stem Cell TransplantationRecruitingNCT01586455Phase 1
34A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101TerminatedNCT00875160Phase 1
35Treatment Protocol of Velaglucerase Alfa for Patients With Type 1 Gaucher DiseaseApproved for marketingNCT00954460
36Validating a New Severity Score System for Adults With Type 1 Gaucher Disease (GD1)CompletedNCT01136304
37Auto-antibodies Prevalence and CD1 Role in Gaucher DiseaseCompletedNCT02650219
38Comparison of BMD Measurement by DEXA to BeamMed Speed-of-Sound Measurement at Forearm in Patients With Gaucher DiseaseCompletedNCT02067247
39Study to Evaluate Blood Cell Lines From Patients With Gaucher DiseaseCompletedNCT00351156
40Effects of Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001289
41A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher DiseaseCompletedNCT00465062
42LYSO-PROVE - Determine the Prognostic Value of Lyso-Gb1 for Monitoring the Progress of Gaucher DiseaseRecruitingNCT02416661
43Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary StudyRecruitingNCT02437396
44International Collaborative Gaucher Group (ICGG) Gaucher RegistryRecruitingNCT00358943
45Thrombocytopathy in Gaucher Disease PatientsRecruitingNCT01344096
46SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher DiseaseRecruitingNCT02605603
47Examining the Immune Response in Patients With Gaucher Disease and Hepatitis CRecruitingNCT01274208
48Miglustat on Gaucher Disease Type IIIBRecruitingNCT02520934
49Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965
50Study of Pulmonary Complications in Pediatric Patients With Storage Disorders Undergoing Allogeneic Hematopoietic Stem Cell TransplantationActive, not recruitingNCT00005900

Search NIH Clinical Center for Gaucher Disease, Type I

Genetic Tests for Gaucher Disease, Type I

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Genetic tests related to Gaucher Disease, Type I:

id Genetic test Affiliating Genes
1 Gaucher's Disease, Type 125
2 Gaucher Disease Type 123

Anatomical Context for Gaucher Disease, Type I

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MalaCards organs/tissues related to Gaucher Disease, Type I:

34
Bone, Lung, Brain, Spleen, Liver, Endothelial, Spinal cord

Animal Models for Gaucher Disease, Type I or affiliated genes

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MGI Mouse Phenotypes related to Gaucher Disease, Type I:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.1ADA, PSAP, SCARB2, UGCG
2MP:00053877.7ADA, CHIT1, GBA, PSAP, SCARB2

Publications for Gaucher Disease, Type I

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Articles related to Gaucher Disease, Type I:

idTitleAuthorsYear
1
Pediatric Gaucher disease type I and mild growth hormone deficiency: a new feature? (20049531)
2010
2
Body composition and bone metabolism in young Gaucher disease type I patients treated with imiglucerase. (18226995)
2008
3
Gaucher disease type I: analysis of two cases with thalassemic facies and pulmonary arteriovenous fistulas. (11592516)
2001

Variations for Gaucher Disease, Type I

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UniProtKB/Swiss-Prot genetic disease variations for Gaucher Disease, Type I:

68 (show all 143)
id Symbol AA change Variation ID SNP ID
1GBAp.Val54LeuVAR_003255
2GBAp.Phe76ValVAR_003256
3GBAp.Thr82IleVAR_003257
4GBAp.Gly85GluVAR_003258
5GBAp.Arg87TrpVAR_003259rs1141814
6GBAp.Lys118AsnVAR_003260
7GBAp.Gly152GluVAR_003261
8GBAp.Ile158ThrVAR_003262
9GBAp.Arg159GlnVAR_003263
10GBAp.Arg159TrpVAR_003264
11GBAp.Pro161SerVAR_003265
12GBAp.Thr173ProVAR_003266
13GBAp.Asp179HisVAR_003267
14GBAp.Lys196GlnVAR_003268
15GBAp.Arg209ProVAR_003269
16GBAp.Ala215AspVAR_003270
17GBAp.Pro217SerVAR_003271
18GBAp.Pro221ThrVAR_003272
19GBAp.Trp223ArgVAR_003273
20GBAp.Asn227SerVAR_003274rs364897
21GBAp.Asn227LysVAR_003275rs381418
22GBAp.Val230GlyVAR_003276rs381427
23GBAp.Gly234GluVAR_003277
24GBAp.Ser235ProVAR_003278rs1064644
25GBAp.Gly241ArgVAR_003279
26GBAp.Tyr251HisVAR_003280
27GBAp.Phe252IleVAR_003281rs381737
28GBAp.Phe255TyrVAR_003282
29GBAp.Ser276ProVAR_003283
30GBAp.Arg296GlnVAR_003284
31GBAp.Pro305ArgVAR_003285
32GBAp.Arg324CysVAR_003286
33GBAp.Pro328LeuVAR_003287
34GBAp.Lys342IleVAR_003288
35GBAp.Ala348ValVAR_003289
36GBAp.Trp351CysVAR_003290
37GBAp.Tyr352HisVAR_003291
38GBAp.Asp354HisVAR_003292
39GBAp.Ala357AspVAR_003293
40GBAp.Thr362IleVAR_003294
41GBAp.Leu363ProVAR_003295
42GBAp.Gly364ArgVAR_003296
43GBAp.Glu365LysVAR_003297rs2230288
44GBAp.Cys381GlyVAR_003298
45GBAp.Arg398GlnVAR_003299
46GBAp.Ser403ThrVAR_003300
47GBAp.Thr408MetVAR_003301rs2230289
48GBAp.Asn409SerVAR_003302rs76763715
49GBAp.Gly416SerVAR_003303
50GBAp.Trp417GlyVAR_003304
51GBAp.Asp419AlaVAR_003305
52GBAp.Asp419AsnVAR_003306
53GBAp.Gly428GluVAR_003307
54GBAp.Pro430LeuVAR_003308
55GBAp.Asn431IleVAR_003309
56GBAp.Val433LeuVAR_003310
57GBAp.Asn435ThrVAR_003311
58GBAp.Asp438AsnVAR_003312
59GBAp.Asp448HisVAR_003313rs1064651
60GBAp.Asp448ValVAR_003314
61GBAp.Tyr451HisVAR_003315
62GBAp.Pro454ArgVAR_003316
63GBAp.Phe456ValVAR_003317
64GBAp.Tyr457CysVAR_003318
65GBAp.Lys464GluVAR_003319
66GBAp.Leu483ArgVAR_003320
67GBAp.Leu483ProVAR_003321
68GBAp.Ala485ProVAR_003322
69GBAp.Ala495ProVAR_003323rs368060
70GBAp.Arg502CysVAR_003324
71GBAp.Gly517SerVAR_003326
72GBAp.Arg535CysVAR_003327
73GBAp.Arg535HisVAR_003328
74GBAp.Ser146LeuVAR_009034
75GBAp.Arg170CysVAR_009035
76GBAp.Arg170LeuVAR_009036
77GBAp.Pro198LeuVAR_009037
78GBAp.Ala229GluVAR_009038
79GBAp.Gly234TrpVAR_009039
80GBAp.His294GlnVAR_009040
81GBAp.Phe298LeuVAR_009041
82GBAp.Arg324HisVAR_009042
83GBAp.Tyr343CysVAR_009043
84GBAp.Ala380ThrVAR_009045
85GBAp.Ser405AsnVAR_009046
86GBAp.Trp432ArgVAR_009047
87GBAp.Asn501LysVAR_009049
88GBAp.Ile200SerVAR_010059
89GBAp.Gly228ValVAR_010060
90GBAp.Gly241GluVAR_010061
91GBAp.Tyr244CysVAR_010062
92GBAp.Gly304AspVAR_010063
93GBAp.Ser310AsnVAR_010064
94GBAp.Val391LeuVAR_010065
95GBAp.Arg392GlyVAR_010066
96GBAp.Ser405GlyVAR_010067
97GBAp.Val414LeuVAR_010068
98GBAp.Pro426LeuVAR_010069
99GBAp.Pro440LeuVAR_010071
100GBAp.Ile441ThrVAR_010072
101GBAp.Phe450IleVAR_010073
102GBAp.Lys452GlnVAR_010074
103GBAp.Arg87GlnVAR_032197
104GBAp.Pro161LeuVAR_032198
105GBAp.Met162ValVAR_032199
106GBAp.Asp166ValVAR_032200
107GBAp.Ile200AsnVAR_032201
108GBAp.Leu213PheVAR_032202
109GBAp.Leu224PheVAR_032203
110GBAp.Gly232GluVAR_032204
111GBAp.Lys237GluVAR_032205
112GBAp.Leu303IleVAR_032206
113GBAp.Glu388LysVAR_032207
114GBAp.Arg392TrpVAR_032208
115GBAp.Tyr402CysVAR_032209
116GBAp.Leu410ValVAR_032210
117GBAp.Asp419HisVAR_032211
118GBAp.Asn421LysVAR_032212
119GBAp.Gly429ArgVAR_032213
120GBAp.Phe436SerVAR_032214
121GBAp.Met455ValVAR_032215
122GBAp.Leu500ProVAR_032216
123GBAp.Arg502ProVAR_032217
124GBAp.Cys55SerVAR_032394
125GBAp.Asp63AsnVAR_032395
126GBAp.Ala129ThrVAR_032397
127GBAp.Asn156AspVAR_032398
128GBAp.Ile158SerVAR_032399
129GBAp.Thr173IleVAR_032400
130GBAp.Ala175GluVAR_032401
131GBAp.Pro198ThrVAR_032402
132GBAp.His201ProVAR_032403
133GBAp.Arg209CysVAR_032404
134GBAp.Pro221LeuVAR_032405
135GBAp.Ala229ThrVAR_032406
136GBAp.Val230GluVAR_032407
137GBAp.Thr270ArgVAR_032408
138GBAp.Phe290LeuVAR_032409
139GBAp.Met400IleVAR_032412rs149487315
140GBAp.Asp438TyrVAR_032413
141GBAp.Ile441PheVAR_032414
142GBAp.Gly460AspVAR_032415
143GBAp.His490ArgVAR_032416

Clinvar genetic disease variations for Gaucher Disease, Type I:

5 (show all 56)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_001005741.2(GBA): c.680_681delATinsGG (p.Asn227Arg)indelLikely pathogenicrs786200979GRCh37Chr 1, 155208005: 155208006
2GBANM_000157.3(GBA): c.1265_1319del55 (p.Leu422Profs)deletionPathogenicrs80356768GRCh37Chr 1, 155205541: 155205595
3GBANM_001005741.2(GBA): c.431T> G (p.Leu144Arg)single nucleotide variantLikely pathogenicrs794727708GRCh37Chr 1, 155209430: 155209430
4GBANM_001005741.2(GBA): c.896T> C (p.Ile299Thr)single nucleotide variantLikely pathogenicrs794727908GRCh37Chr 1, 155207235: 155207235
5GBANM_000157.3(GBA): c.415G> C (p.Ala139Pro)single nucleotide variantLikely pathogenicrs878853314GRCh37Chr 1, 155209446: 155209446
6GBANM_000157.3(GBA): c.1177C> G (p.Leu393Val)single nucleotide variantLikely pathogenicrs878853315GRCh38Chr 1, 155236292: 155236292
7GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
8GBANM_000157.3(GBA): c.1459G> A (p.Ala487Thr)single nucleotide variantLikely pathogenicrs878853317GRCh37Chr 1, 155205032: 155205032
9GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
10GBANM_000157.3(GBA): c.1397T> G (p.Ile466Ser)single nucleotide variantLikely pathogenicrs878853320GRCh38Chr 1, 155235303: 155235303
11GBANM_000157.3(GBA): c.866G> C (p.Gly289Ala)single nucleotide variantLikely pathogenicrs878853321GRCh37Chr 1, 155207265: 155207265
12GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
13GBANM_001005741.2(GBA): c.1226A> G (p.Asn409Ser)single nucleotide variantPathogenic, risk factorrs76763715GRCh37Chr 1, 155205634: 155205634
14GBANM_000157.3(GBA): c.476G> A (p.Arg159Gln)single nucleotide variantPathogenicrs79653797GRCh37Chr 1, 155208420: 155208420
15GBANM_001005741.2(GBA): c.1297G> T (p.Val433Leu)single nucleotide variantPathogenicrs80356769GRCh37Chr 1, 155205563: 155205563
16GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
17GBANM_000157.3(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
18GBANM_001005741.2(GBA): c.254G> A (p.Gly85Glu)single nucleotide variantPathogenicrs77829017GRCh37Chr 1, 155209730: 155209730
19GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
20GBANM_001005741.2(GBA): c.764T> A (p.Phe255Tyr)single nucleotide variantPathogenicrs74500255GRCh37Chr 1, 155207367: 155207367
21GBANM_001005741.2(GBA): c.586A> C (p.Lys196Gln)single nucleotide variantPathogenicrs121908297GRCh37Chr 1, 155208310: 155208310
22GBANM_000157.3(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
23GBANM_001005741.2(GBA): c.84dupG (p.Leu29Alafs*18)duplicationPathogenicrs387906315GRCh37Chr 1, 155210452: 155210452
24GBANM_000157.3(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
25GBANM_001005741.2(GBA): c.983C> T (p.Pro328Leu)single nucleotide variantPathogenicrs121908298GRCh37Chr 1, 155207148: 155207148
26GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
27GBANM_001005741.2(GBA): c.72delC (p.Leu25Serfs)deletionPathogenicrs397518433GRCh37Chr 1, 155210464: 155210464
28GBANM_001005741.2(GBA): c.481C> T (p.Pro161Ser)single nucleotide variantPathogenicrs121908299GRCh37Chr 1, 155208415: 155208415
29GBANM_001005741.2(GBA): c.751T> C (p.Tyr251His)single nucleotide variantPathogenicrs121908300GRCh37Chr 1, 155207935: 155207935
30GBANM_001005741.2(GBA): c.1549G> A (p.Gly517Ser)single nucleotide variantPathogenicrs121908301GRCh37Chr 1, 155204848: 155204848
31GBANM_000157.3(GBA): c.1604G> A (p.Arg535His)single nucleotide variantPathogenicrs75822236GRCh37Chr 1, 155204793: 155204793
32GBANM_001005741.2(GBA): c.160G> T (p.Val54Leu)single nucleotide variantPathogenicrs121908302GRCh37Chr 1, 155209824: 155209824
33GBANM_000157.3(GBA): c.680A> G (p.Asn227Ser)single nucleotide variantPathogenicrs364897GRCh37Chr 1, 155208006: 155208006
34GBANM_001005741.2(GBA): c.763T> G (p.Phe255Val)single nucleotide variantPathogenicrs121908303GRCh37Chr 1, 155207368: 155207368
35GBANM_001005741.2(GBA): c.1043C> T (p.Ala348Val)single nucleotide variantPathogenicrs78396650GRCh37Chr 1, 155206217: 155206217
36GBANM_001005741.2(GBA): c.1053G> T (p.Trp351Cys)single nucleotide variantPathogenicrs121908304GRCh37Chr 1, 155206207: 155206207
37GBANM_001005741.2(GBA): c.1090G> A (p.Gly364Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121908305GRCh37Chr 1, 155206170: 155206170
38GBANM_001005741.2(GBA): c.1208G> C (p.Ser403Thr)single nucleotide variantPathogenicrs121908307GRCh37Chr 1, 155206052: 155206052
39GBANM_001005741.2(GBA): c.259C> T (p.Arg87Trp)single nucleotide variantPathogenicrs1141814GRCh37Chr 1, 155209725: 155209725
40GBANM_001005741.2(GBA): c.1319C> T (p.Pro440Leu)single nucleotide variantPathogenicrs74598136GRCh37Chr 1, 155205541: 155205541
41GBANM_001005741.2(GBA): c.1192C> T (p.Arg398Ter)single nucleotide variantPathogenicrs121908309GRCh37Chr 1, 155206068: 155206068
42GBANM_000157.3(GBA): c.1246G> A (p.Gly416Ser)single nucleotide variantPathogenicrs121908311GRCh37Chr 1, 155205614: 155205614
43GBANM_000157.3(GBA): c.887G> A (p.Arg296Gln)single nucleotide variantPathogenicrs78973108GRCh37Chr 1, 155207244: 155207244
44GBANM_001005741.2(GBA): c.354G> C (p.Lys118Asn)single nucleotide variantPathogenicrs121908312GRCh37Chr 1, 155209507: 155209507
45GBANM_001005741.2(GBA): c.1228C> G (p.Leu410Val)single nucleotide variantPathogenicrs121908314GRCh37Chr 1, 155205632: 155205632
46GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
47GBANM_000157.3(GBA): c.475C> T (p.Arg159Trp)single nucleotide variantPathogenicrs439898GRCh37Chr 1, 155208421: 155208421
48GBANM_001005741.2(GBA): c.1060G> C (p.Asp354His)single nucleotide variantPathogenicrs398123526GRCh37Chr 1, 155206200: 155206200
49GBANM_001005741.2(GBA): c.115+1G> Asingle nucleotide variantPathogenicrs104886460GRCh38Chr 1, 155240629: 155240629
50GBANM_001005741.2(GBA): c.1171G> C (p.Val391Leu)single nucleotide variantPathogenicrs398123527GRCh37Chr 1, 155206089: 155206089
51GBANM_001005741.2(GBA): c.1240G> T (p.Val414Leu)single nucleotide variantLikely pathogenicrs398123528GRCh37Chr 1, 155205620: 155205620
52GBANM_001005741.2(GBA): c.487delG (p.Ala163Profs)deletionPathogenicrs398123529GRCh37Chr 1, 155208409: 155208409
53GBANM_001005741.2(GBA): c.508C> T (p.Arg170Cys)single nucleotide variantPathogenicrs398123530GRCh37Chr 1, 155208388: 155208388
54GBANM_001005741.2(GBA): c.625C> T (p.Arg209Cys)single nucleotide variantPathogenicrs398123532GRCh37Chr 1, 155208061: 155208061
55GBANM_001005741.2(GBA): c.667T> C (p.Trp223Arg)single nucleotide variantPathogenicrs61748906GRCh37Chr 1, 155208019: 155208019
56GBANM_001005741.2(GBA): c.721G> A (p.Gly241Arg)single nucleotide variantPathogenicrs409652GRCh37Chr 1, 155207965: 155207965

Expression for genes affiliated with Gaucher Disease, Type I

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Search GEO for disease gene expression data for Gaucher Disease, Type I.

Pathways for genes affiliated with Gaucher Disease, Type I

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Pathways related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.0GBA, PSAP, SCARB2
2
Show member pathways
9.0GBA, PSAP, UGCG

GO Terms for genes affiliated with Gaucher Disease, Type I

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Cellular components related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1lysosomal lumenGO:00432029.4GBA, PSAP, SCARB2
2lysosomal membraneGO:00057659.0GBA, PSAP, SCARB2
3extracellular spaceGO:00056157.6ADA, CHIT1, GBA, GH1, PSAP

Biological processes related to Gaucher Disease, Type I according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1carbohydrate metabolic processGO:00059759.7CHIT1, GBA
2negative regulation of inflammatory responseGO:00507289.5ADA, GBA
3glycosphingolipid metabolic processGO:00066878.9GBA, PSAP, UGCG

Sources for Gaucher Disease, Type I

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet