MCID: GCH016
MIFTS: 41

Gaucher Disease, Type Ii malady

Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Respiratory diseases, Metabolic diseases, Bone diseases categories

Aliases & Classifications for Gaucher Disease, Type Ii

About this section
Sources:
49OMIM, 11diseasecard, 68Wikipedia, 45NIH Rare Diseases, 22GeneTests, 47Novoseek, 51Orphanet, 24GTR, 65UMLS, 67UniProtKB/Swiss-Prot, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

Aliases & Descriptions for Gaucher Disease, Type Ii:

Name: Gaucher Disease, Type Ii 49 11 47
Acute Neuronopathic Gaucher Disease 51 24 67
Type 2 Gaucher Disease 68 22 47
Gaucher Disease Type 2 68 45 51
Gaucher Disease, Acute Neuronopathic Type 45
Infantile Cerebral Gaucher's Disease 68
Gaucher Disease, Infantile Cerebral 45
Infantile Cerebral Gaucher Disease 51
 
Acute Cerebral Gaucher's Disease 68
Infantile Gaucher Disease 68
Gaucher Disease, Type 2 65
Gaucher Disease Type Ii 67
Gaucher Disease 2 67
Gd Ii 67
Gd 2 45
Gd2 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
acute neuronopathic gaucher disease:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Europe); Age of onset: Infancy,Neonatal; Age of death: early childhood


External Ids:

OMIM49 230900
Orphanet51 77260
ICD10 via Orphanet28 E75.2
UMLS via Orphanet66 C0268250
MedGen34 C0268250
MeSH36 D005776

Summaries for Gaucher Disease, Type Ii

About this section
NIH Rare Diseases:45 Gaucher disease type 2 is an inherited metabolic disorder in which harmful quantities of a fatty substance called glucocerebroside accumulate in the spleen, liver, lungs, bone marrow, and brain. liver and spleen enlargement are often apparent by 3 months of age. patients typically develop extensive and progressive brain damage and many die by 2 years of age. gaucher disease type 2 is caused by mutations in the gba gene. it is inherited in an autosomal recessive pattern. while enzyme replacement therapy is available, there is no effective treatment for the severe brain damage that may occur in patients with this condition. last updated: 2/22/2010

MalaCards based summary: Gaucher Disease, Type Ii, also known as acute neuronopathic gaucher disease, is related to gaucher disease, type iii and gaucher disease, type i, and has symptoms including ophthalmoparesis, hypertonia and splenomegaly. An important gene associated with Gaucher Disease, Type Ii is GBA (Glucosidase, Beta, Acid), and among its related pathways are Sphingolipid metabolism and Lysosome. Affiliated tissues include liver, bone and lung.

OMIM:49 Type II Gaucher disease is an acute neuronopathic form of the disorder with onset in infancy and death often by 2 years... (230900) more...

UniProtKB/Swiss-Prot:67 Gaucher disease 2: The most severe form of Gaucher disease. It manifests soon after birth, with death generally occurring before patients reach two years of age.

Related Diseases for Gaucher Disease, Type Ii

About this section

Diseases in the Gaucher's Disease family:

Gaucher Disease, Type I gaucher disease, type ii
Gaucher Disease, Type Iii Gaucher Disease, Type Iiic
Pseudo-Gaucher Disease

Diseases related to Gaucher Disease, Type Ii via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 99)
idRelated DiseaseScoreTop Affiliating Genes
1gaucher disease, type iii30.3GBA, PSAP
2gaucher disease, type i30.0GBA, PSAP
3gaucher's disease10.3
4neuronitis10.3
5ewing sarcoma10.3
6neuroectodermal tumor10.3
7medulloepithelioma10.3
8embryonal cancer10.3
9germ cell and embryonal cancer10.3
10germ cell cancer10.3
11nervous system cancer10.3
12neuroblastoma 310.2
13neuroblastoma 210.2
14neuroblastoma 410.2
15astroblastoma10.2
16peripheral primitive neuroectodermal tumor10.2
17neural crest tumor10.2
18gaucher disease, perinatal lethal10.1
19stroke, ischemic10.1
20hemophagocytic lymphohistiocytosis10.1
21lysosomal storage disease10.1
22cerebral lipidosis10.1
23metabolic syndrome x10.1
24central nervous system disease10.1
25cholestasis10.1
26cranial nerve disease10.1
27lipid metabolism disorder10.1
28lipid storage disease10.1
29nervous system disease10.1
30osteomyelitis10.1
31physical disorder10.1
32prion disease10.1
33sphingolipidosis10.1
34vein disease10.1
35genetic brain disorders10.1
36neurologic diseases10.1
37hydrops fetalis10.1
38ichthyosis10.1
39encephalopathy10.1
40neuroblastoma 610.1
41neuroblastoma 510.1
42trichohepatoenteric syndrome 110.1
43trichohepatoenteric syndrome 210.1
44retinoblastoma10.1
45osteosarcoma, somatic10.1
46melanoma metastasis10.1
47small cell sarcoma10.1
48bone peripheral neuroepithelioma10.1
49soft tissue peripheral neuroepithelioma10.1
50small cell osteogenic sarcoma10.1

Graphical network of the top 20 diseases related to Gaucher Disease, Type Ii:



Diseases related to gaucher disease, type ii

Symptoms for Gaucher Disease, Type Ii

About this section

Symptoms by clinical synopsis from OMIM:

230900

Clinical features from OMIM:

230900

Symptoms:

 51 (show all 15)
  • abnormal eye movements/oculomotor disorder
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • hepatomegaly/liver enlargement (excluding storage disease)
  • splenomegaly
  • respiratory rhythm disorder
  • hypertonia/spasticity/rigidity/stiffness
  • early death/lethality
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • cough
  • repeat respiratory infections
  • seizures/epilepsy/absences/spasms/status epilepticus
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest

HPO human phenotypes related to Gaucher Disease, Type Ii:

(show all 34)
id Description Frequency HPO Source Accession
1 ophthalmoparesis hallmark (90%) HP:0000597
2 hypertonia hallmark (90%) HP:0001276
3 splenomegaly hallmark (90%) HP:0001744
4 weight loss hallmark (90%) HP:0001824
5 hepatomegaly hallmark (90%) HP:0002240
6 abnormal pattern of respiration hallmark (90%) HP:0002793
7 seizures typical (50%) HP:0001250
8 flexion contracture typical (50%) HP:0001371
9 respiratory insufficiency typical (50%) HP:0002093
10 recurrent respiratory infections typical (50%) HP:0002205
11 sudden cardiac death occasional (7.5%) HP:0001645
12 autosomal recessive inheritance HP:0000007
13 trismus HP:0000211
14 strabismus HP:0000486
15 esotropia HP:0000565
16 oculomotor apraxia HP:0000657
17 seizures HP:0001250
18 spasticity HP:0001257
19 global developmental delay HP:0001263
20 hyperreflexia HP:0001347
21 failure to thrive HP:0001508
22 protuberant abdomen HP:0001538
23 splenomegaly HP:0001744
24 thrombocytopenia HP:0001873
25 anemia HP:0001903
26 dysphagia HP:0002015
27 cerebral atrophy HP:0002059
28 rigidity HP:0002063
29 recurrent aspiration pneumonia HP:0002100
30 apnea HP:0002104
31 hepatomegaly HP:0002240
32 progressive neurologic deterioration HP:0002344
33 bulbar signs HP:0002483
34 feeding difficulties HP:0011968

Drugs & Therapeutics for Gaucher Disease, Type Ii

About this section

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

(show all 21)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PrednisoloneapprovedPhase 2, Phase 3103350-24-85755
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
Flo-pred
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
Millipred
MolPort-002-507-147
NCGC00179649-01
NSC 9120
NSC9120
NSC9900
Neo-Delta-Cortef
Nisolone
Nor-Pred T.B.A.
Ocu-Pred
Ocu-Pred Forte
Omnipred
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
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
2
Cyclophosphamideapproved, investigationalPhase 2, Phase 3252550-18-0, 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
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
3
MethylprednisoloneapprovedPhase 2, Phase 3103383-43-26741
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
A-methapred
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)
Depo-medrol
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
Solu-medrol
Summicort
Suprametil
U 7532
UNII-X4W7ZR7023
Urbason
Urbasone
Wyacort
ZINC03875560
delta(1)-6alpha-Methylhydrocortisone
delta(sup 1)-6-alpha-Methylhydrocortisone
methylprednisolone
methylprenisolone
4
Busulfanapproved, investigationalPhase 2, Phase 348655-98-12478
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)
5Prednisolone phosphatePhase 2, Phase 31033
6Antilymphocyte SerumPhase 2, Phase 3376
7Prednisolone hemisuccinatePhase 2, Phase 31033
8Methylprednisolone HemisuccinatePhase 2, Phase 31033
9Prednisolone acetatePhase 2, Phase 31033
10Methylprednisolone acetatePhase 2, Phase 31033
11
AcetylcysteineapprovedPhase 2280616-91-112035
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
Acetadote
Acetilcisteina
Acetylcysteine
Acetylcysteinum
Fluimicil Infantil
Fluimucetin
 
Flumucetin
Fluprowit
L-Acetylcysteine
L-alpha-acetamido-beta-Mercaptopropionic acid
Mercapturic acid
N-ACETYL-L-cysteine
N-Acety-L-Cysteine
N-Acetyl-3-mercaptoalanine
N-Acetyl-L-(+)-cysteine
N-Acetylcysteine
N-acetylcysteine
Sodium 2-acetamido-3-mercaptopropionate
12
AmbroxolapprovedPhase 1, Phase 21318683-91-52132
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 Hydrochloride
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
SID29215331
SID50085991
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
13
Calcitriolapproved, nutraceuticalPhase 215832222-06-3134070, 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
14vitamin dPhase 21463
15ExpectorantsPhase 2, Phase 1320
16N-monoacetylcystinePhase 2280
17
Doxorubicinapproved, investigationalPhase 1152523214-92-831703
Synonyms:
(1S,3S)-3-Glycoloyl-3,5,12-trihydroxy-10-methoxy-6,11-dioxo-1,2,3,4,6,11-hexahydrotetracen-1-yl 3-amino-2,3,6-trideoxy-alpha-L-lyxo-hexopyranoside
(8S-cis)-10-((3-amino-2,3,6-Trideoxy-alpha-L-lyxo-hexopyranosyl)oxy)-7,8,9,10-tetrahydro-6,8,11-trihydroxy-8-(hydroxyacetyl)-1-methoxy-5,12-naphthacenedione
111266-55-8
14-Hydroxydaunomycin
14-Hydroxydaunorubicine
14-hydroxydaunomycin
14-hydroxydaunorubicine
23214-92-8
23257-17-2
24385-08-8
25311-50-6
25316-40-9
25316-40-9 (hydrochloride)
29042-30-6
AC1L1M5T
AC1Q29OJ
ADM
ADR
Adriablastin
Adriacin (hydrochloride salt)
Adriamycin
Adriamycin PFS
Adriamycin PFS (hydrochloride salt)
Adriamycin RDF
Adriamycin RDF (hydrochloride salt)
Adriamycin Semiquinone
Adriamycin semiquinone
Adriblas tina
Adriblastin
Adriblastina
Adriblastina (TN)
Adriblastina (hydrochloride salt)
Aerosolized Doxorubicin
BPBio1_000502
BRD-K92093830-003-04-3
BSPBio_000456
BSPBio_001031
C01661
C27H29NO11
CCRIS 739
CHEBI:28748
CHEMBL179
CID31703
Caelyx
Conjugate of doxorubicin with humanized monoclonal antibody LL1 against CD74
Conjugate of doxorubicin with monoclonal antibody P4/D10 against GP120
D03899
DB00997
DM2
DOX-SL
Doxil
Doxo
Doxorubicin
Doxorubicin (USAN/INN)
Doxorubicin HCl
 
Doxorubicin Hydrochloride
Doxorubicin [USAN:INN:BAN]
Doxorubicin citrate
Doxorubicin hydrochloride (hydrochloride salt)
Doxorubicin-P4/D10
Doxorubicin-P4/D10 conjugate
Doxorubicin-hLL1
Doxorubicin-hLL1 conjugate
Doxorubicina
Doxorubicina [INN-Spanish]
Doxorubicine
Doxorubicine [INN-French]
Doxorubicinum
Doxorubicinum [INN-Latin]
EINECS 245-495-6
FI 106
Farmablastina (hydrochloride salt)
HMS2089H06
HSDB 3070
Hydroxydaunomycin hydrochlor ide (hydrochloride salt)
Hydroxydaunomycin hydrochloride (hydrochloride salt)
Hydroxydaunorubicin
Hydroxydaunorubicin hydrochloride (hydrochloride salt)
JT9100000
LMPK13050001
LS-1029
LS-165655
MLS000759533
Myocet
NCI-C01514
NChemBio.2007.10-comp13
NDC 38242-874
NIOSH/JT9100000
NSC 123127
Prestwick0_000438
Prestwick1_000438
Prestwick2_000438
Prestwick3_000438
Probes1_000151
Probes2_000129
RDF Rubex
Resmycin
Rubex
Rubex (hydrochloride salt)
SMP1_000106
SPBio_002395
TLC D-99
ThermoDox
Triferric doxorubicin
UNII-80168379AG
adiblastine (hydrochloride salt)
adr iablatina (hydrochloride salt)
adriablastine (hydrochloride salt)
adriablatina (hydrochloride salt)
adriblatina (hydrochloride salt)
doxorubicin
nchembio809-comp5
18
Bevacizumabapproved, investigationalPhase 11820216974-75-3
Synonyms:
216974-75-3
Avastin
Avastin (TN)
Bevacizumab
Bevacizumab (genetical recombination)
 
Bevacizumab (genetical recombination) (JAN)
D06409
R-435
anti-VEGF monoclonal antibody
antiVEGF
bevacizumab
19
DoxilApproved June 1999Phase 1152531703
Synonyms:
Dox-SL
Doxil
 
Evacet
LipoDox
Pegylated Liposomal Doxorubicin Hydrochloride
liposomal doxorubicin
20Interferon-gamma135
21
Imidacloprid128105827-78-986418
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 all 36)
idNameStatusNCT IDPhase
1Safety and Efficacy of Cerezyme® Infusions Every 4 Weeks Versus Every 2 Weeks in Type 1 Gaucher DiseaseCompletedNCT00364858Phase 4
2This 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 YearsNot yet recruitingNCT02574286Phase 4
3Multicenter Extension Study of Velaglucerase Alfa in Japanese Patients With Gaucher DiseaseCompletedNCT01842841Phase 3
4Study of Velaglucerase Alfa Enzyme Replacement Therapy in Japanese Patients With Gaucher DiseaseCompletedNCT01614574Phase 3
5Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With ImigluceraseCompletedNCT00478647Phase 2, Phase 3
6Stem Cell Transplant for Inborn Errors of MetabolismCompletedNCT00176904Phase 2, Phase 3
7Skeletal Response to Eliglustat in Patients With Gaucher DiseaseRecruitingNCT02536755Phase 3
8A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease (ENGAGE)Active, not recruitingNCT00891202Phase 3
9A Study of Eliglustat Tartrate (Genz-112638) in Patients With Gaucher Disease Who Have Reached Therapeutic Goals With Enzyme Replacement Therapy (ENCORE)Active, not recruitingNCT00943111Phase 3
10The Safety and Efficacy Study of ISU302 in Patient With Type I Gaucher DiseaseNot yet recruitingNCT01161914Phase 3
11Efficacy and Safety Study of Velaglucerase Alfa in Children and Adolescents With Type 3 Gaucher DiseaseCompletedNCT01685216Phase 1, Phase 2
12A Long-Term Extension Study of AT2101 in Type 1 Gaucher PatientsCompletedNCT00813865Phase 2
13A Switch-Over Study of the Safety and Efficacy of ISU302 in Patients With Type 1 Gaucher DiseaseCompletedNCT02053896Phase 2
14Safety Study of AT2101 in Adult Patients With Type 1 Gaucher Disease Currently Receiving Enzyme Replacement TherapyCompletedNCT00433147Phase 2
15A Study of Oral AT2101 in Treatment-naive Patients With Gaucher DiseaseCompletedNCT00446550Phase 2
16Open-Label Extension Study Evaluating Long Term Safety in Patients With Type 1 Gaucher Disease Receiving DRX008A (ERT)CompletedNCT00391625Phase 1, Phase 2
17Bone Response to Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001416Phase 2
18Role of Oxidative Stress and Inflammation in Type 1 Gaucher Disease (GD1)RecruitingNCT02583672Phase 2
19A Study of the Efficacy and Safety of Eliglustat Tartrate (Genz-112638) in Type 1 Gaucher PatientsActive, not recruitingNCT00358150Phase 2
20Clinical Trial of Ambroxol in Patients With Type I Gaucher DiseaseSuspendedNCT01463215Phase 1, Phase 2
21PEG-Glucocerebrosidase for the Treatment of Gaucher DiseaseCompletedNCT00001410Phase 1
22Gene Therapy for Gaucher's and Fabry Disease Using Viruses and Blood-Forming CellsCompletedNCT00001234Phase 1
23Phase 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
24Bevacizumab/Doxorubicin/Radiation for SarcomaRecruitingNCT01746238Phase 1
25A Study in Type 1 Gaucher Patients to Evaluate the Pharmacokinetics, Safety and Pharmacodynamics of AT2101TerminatedNCT00875160Phase 1
26Convection-Enhanced Delivery of Glucocerebrosidase to Treat Type 2 Gaucher DiseaseCompletedNCT00244582
27Effects of Enzyme Replacement in Gaucher's DiseaseCompletedNCT00001289
28Study to Evaluate Blood Cell Lines From Patients With Gaucher DiseaseCompletedNCT00351156
29A Study to Evaluate and Characterize the Effect of Pharmacological Chemicals on Blood From Patients With Gaucher DiseaseCompletedNCT00465062
30Auto-antibodies Prevalence and CD1 Role in Gaucher DiseaseCompletedNCT02650219
31Nervous System Degeneration in Glycosphingolipid Storage DisordersRecruitingNCT00029965
32SRT in Comparison to ERT on Immune Aspects and Bone Involvement in Gaucher DiseaseRecruitingNCT02605603
33Oxidative Stress-Related Biomarkers in Gaucher Disease: A Preliminary StudyRecruitingNCT02437396
34Investigating Lysosomal Storage Diseases in Minority GroupsRecruitingNCT02120235
35Examining the Immune Response in Patients With Gaucher Disease and Hepatitis CRecruitingNCT01274208
36Study 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 Ii

Genetic Tests for Gaucher Disease, Type Ii

About this section

Genetic tests related to Gaucher Disease, Type Ii:

id Genetic test Affiliating Genes
1 Gaucher Disease Type 2 (acute)22
2 Acute Neuronopathic Gaucher's Disease24

Anatomical Context for Gaucher Disease, Type Ii

About this section

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

33
Liver, Bone, Lung, Brain, Spleen, Bone marrow, Eye

Animal Models for Gaucher Disease, Type Ii or affiliated genes

About this section

Publications for Gaucher Disease, Type Ii

About this section

Variations for Gaucher Disease, Type Ii

About this section

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

67
id Symbol AA change Variation ID SNP ID
1GBAp.Leu483ProVAR_003321
2GBAp.Glu80LysVAR_009033rs1141808
3GBAp.Arg170CysVAR_009035
4GBAp.Asp513TyrVAR_009050

Clinvar genetic disease variations for Gaucher Disease, Type Ii:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
2GBANM_001005741.2(GBA): c.1361C> G (p.Pro454Arg)single nucleotide variantPathogenicrs121908295GRCh37Chr 1, 155205499: 155205499
3GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
4GBANM_000157.3(GBA): c.1504C> T (p.Arg502Cys)single nucleotide variantPathogenic, risk factorrs80356771GRCh37Chr 1, 155204987: 155204987
5GBANM_000157.3(GBA): c.1448T> C (p.Leu483Pro)single nucleotide variantPathogenic, risk factorrs421016GRCh37Chr 1, 155205043: 155205043
6GBANM_000157.3(GBA): c.754T> A (p.Phe252Ile)single nucleotide variantPathogenicrs381737GRCh37Chr 1, 155207932: 155207932
7GBANM_000157.3(GBA): c.27+1G> Asingle nucleotide variantPathogenicrs80356759GRCh37Chr 1, 155210876: 155210876
8GBANM_001005741.2(GBA): c.1085C> T (p.Thr362Ile)single nucleotide variantPathogenicrs76539814GRCh37Chr 1, 155206175: 155206175
9GBANM_001005741.2(GBA): c.1090G> A (p.Gly364Arg)single nucleotide variantLikely pathogenic, Pathogenicrs121908305GRCh37Chr 1, 155206170: 155206170
10GBANM_001005741.2(GBA): c.1141T> G (p.Cys381Gly)single nucleotide variantPathogenicrs121908306GRCh37Chr 1, 155206119: 155206119
11GBANM_000157.3(GBA): c.1342G> C (p.Asp448His)single nucleotide variantPathogenicrs1064651GRCh37Chr 1, 155205518: 155205518
12GBANM_001005741.2(GBA): c.1483G> C (p.Ala495Pro)single nucleotide variantPathogenicrs368060GRCh37Chr 1, 155205008: 155205008
13GBANM_001005741.2(GBA): c.1497G> C (p.Val499=)single nucleotide variantPathogenicrs1135675GRCh37Chr 1, 155204994: 155204994

Expression for genes affiliated with Gaucher Disease, Type Ii

About this section
Search GEO for disease gene expression data for Gaucher Disease, Type Ii.

Pathways for genes affiliated with Gaucher Disease, Type Ii

About this section

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.1GBA, PSAP
29.1GBA, PSAP

GO Terms for genes affiliated with Gaucher Disease, Type Ii

About this section

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

idNameGO IDScoreTop Affiliating Genes
1lysosomal membraneGO:00057659.1GBA, PSAP
2lysosomal lumenGO:00432028.8GBA, PSAP

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

idNameGO IDScoreTop Affiliating Genes
1sphingolipid metabolic processGO:00066659.1GBA, PSAP
2glycosphingolipid metabolic processGO:00066878.8GBA, PSAP

Sources for Gaucher Disease, Type Ii

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet