MCID: EXS005
MIFTS: 23

Exostoses, Multiple, Type 2 malady

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Exostoses, Multiple, Type 2

About this section

Aliases & Descriptions for Exostoses, Multiple, Type 2:

Name: Exostoses, Multiple, Type 2 49 11 45 24
Hereditary Multiple Exostoses 2 67
 
Ext2 67

Characteristics:

HPO:

61
exostoses, multiple, type 2:
Onset and clinical course: juvenile onset
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 133701
MedGen34 C1851413

Summaries for Exostoses, Multiple, Type 2

About this section
UniProtKB/Swiss-Prot:67 Hereditary multiple exostoses 2: EXT is a genetically heterogeneous bone disorder caused by genes segregating on human chromosomes 8, 11, and 19 and designated EXT1, EXT2 and EXT3 respectively. EXT is a dominantly inherited skeletal disorder primarily affecting endochondral bone during growth. The disease is characterized by formation of numerous cartilage-capped, benign bone tumors (osteocartilaginous exostoses or osteochondromas) that are often accompanied by skeletal deformities and short stature. In a small percentage of cases exostoses have exhibited malignant transformation resulting in an osteosarcoma or chondrosarcoma. Osteochondromas development can also occur as a sporadic event.

MalaCards based summary: Exostoses, Multiple, Type 2, also known as hereditary multiple exostoses 2, is related to hereditary multiple exostoses, and has symptoms including short stature, short metacarpal and chondrosarcoma. An important gene associated with Exostoses, Multiple, Type 2 is EXT2 (Exostosin Glycosyltransferase 2). Affiliated tissues include bone and t cells.

OMIM:49 Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly... (133701) more...

Related Diseases for Exostoses, Multiple, Type 2

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Diseases in the Hereditary Multiple Exostoses family:

Exostoses, Multiple, Type 1 exostoses, multiple, type 2
Exostoses, Multiple, Type 3

Diseases related to Exostoses, Multiple, Type 2 via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary multiple exostoses11.6

Symptoms for Exostoses, Multiple, Type 2

About this section

Symptoms by clinical synopsis from OMIM:

133701

Clinical features from OMIM:

133701

HPO human phenotypes related to Exostoses, Multiple, Type 2:

(show all 12)
id Description Frequency HPO Source Accession
1 short stature frequent (33%) HP:0004322
2 short metacarpal HP:0010049
3 chondrosarcoma HP:0006765
4 peripheral nerve compression HP:0003406
5 pelvic bone exostoses HP:0003276
6 protuberances at ends of long bones HP:0003105
7 madelung-like forearm deformities HP:0003068
8 genu valgum HP:0002857
9 coxa vara HP:0002812
10 cervical myelopathy HP:0002318
11 scapular exostoses HP:0000918
12 rib exostoses HP:0000896

Drugs & Therapeutics for Exostoses, Multiple, Type 2

About this section

Drugs for Exostoses, Multiple, Type 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 27)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AmlodipineapprovedPhase 344988150-42-92162
Synonyms:
()-Amlodipine
(RS)-3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
-3-(ethoxycarbonyl)-5-(methoxycarbonyl)-6-methyl-1,4-dihydropyridine
2-[(2-Aminoethoxy)methyl]-4-(2-chlorophenyl)
3,5-Pyridinedicarboxylic acid, 2-((2-aminoethoxy)methyl)-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3,5-Pyridinedicarboxylic acid, 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-1,4-dihydro-6-methyl-, 3-ethyl 5-methyl ester
3-Ethyl 5-methylester, (┬▒)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxy)methyl)-4-(2-chlorphenyl)-1,4-dihydro-6-methyl-3,5-pyridindicarboxylat
3-Ethyl-5-methyl ( -)-2-((2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(O-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (+-)-2-(2-aminoethoxymethyl)-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-Ethyl-5-methyl (.+/-.)-2-[(2-aminoethoxy)methyl]-4-(o-chlorophenyl)-1,4-dihydro-6-methyl-3,5-pyridinedicarboxylate
3-O-ethyl 5-O-methyl 2-(2-aminoethoxymethyl)-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-[(2-aminoethoxy)methyl]-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
3-ethyl 5-methyl 2-{[(2-aminoethyl)oxy]methyl}-4-(2-chlorophenyl)-6-methyl-1,4-dihydropyridine-3,5-dicarboxylate
88150-42-9
88150-47-4 (maleate (1:1))
AC-4535
AC1L1D26
AC1Q32ZS
AMLODIPINE BASE
AMVAZ
Ambap88150-42-9
Amlocard
Amlodipine
Amlodipine (INN)
Amlodipine Benzenesulfonate
Amlodipine Besilate
Amlodipine Besylate
Amlodipine Free Base
Amlodipine Maleate
Amlodipine [INN:BAN]
Amlodipine besilate
Amlodipine besylate
Amlodipine free base
Amlodipino
Amlodipino [Spanish]
Amlodipinum
Amlodipinum [Latin]
Amlodis
Amlopres
Amlor
 
Amvaz
BIDD:GT0810
BRD-A22032524-074-02-4
BRD-A22032524-074-03-2
BSPBio_002727
C06825
CHEBI:2668
CHEMBL1491
CID2162
CPD000469198
Coroval
D07450
DB00381
HMS2052N03
HMS2089H07
I14-0798
Intervask
Istin
KBio3_001947
KBioGR_001643
LS-131183
Lipinox
Lotrel
MLS001401409
MolPort-001-792-963
NCGC00165957-01
NCGC00165957-02
NCGC00165957-03
Norvasc
Norvasc (TN)
Pelmec
R,S)-Amlodipine
Racemic Amlodipine
SAM001246705
SMR000469198
SPBio_000351
Spectrum2_000486
Spectrum3_001004
Spectrum4_001132
Spectrum5_001550
UK-4834011
UNII-1J444QC288
amlodipine
2
EnalaprilapprovedPhase 311275847-73-35362032, 40466924
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(S)-1-(N-(1-(Ethoxycarbonyl)-3-phenylpropyl)-L-alanyl)-L-proline
(S)-1-{(S)-2-[1-((S)-ethoxycarbonyl)-3-phenyl-propylamino]-propionyl}-pyrrolidine-2-carboxylic acid
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline 1'-ethyl ester
75847-73-3
AC1NTUS5
Analapril
BIDD:GT0751
BPBio1_000340
BSPBio_000308
BSPBio_003035
Bonuten
C06977
CAS-76095-16-4
CHEBI:116847
CHEBI:4784
CHEMBL578
CID5388962
D07892
DivK1c_000408
Enalapril
Enalapril (INN)
Enalapril (TN)
Enalapril Bp
Enalapril Maleate
Enalapril Richet
Enalaprila
Enalaprila [INN-Spanish]
Enalaprilat
Enalaprilum
 
Enalaprilum [INN-Latin]
Gadopril
HMS2090E08
IDI1_000408
KBio1_000408
KBio2_001787
KBio2_004355
KBio2_006923
KBio3_002535
KBioGR_000355
KBioSS_001787
Kinfil
LS-190651
MolPort-002-885-877
N-[(2S)-1-ethoxy-1-oxo-4-phenylbutan-2-yl]-L-alanyl-L-proline
N-{(1S)-1-[(ethyloxy)carbonyl]-3-phenylpropyl}-L-alanyl-L-proline
NCGC00016932-01
NCGC00021569-04
NCGC00021569-05
NCGC00021569-06
NINDS_000408
Prestwick3_000314
SPBio_001349
Spectrum2_001455
Spectrum3_001478
Spectrum4_000008
Spectrum5_001107
Spectrum_001307
Vaseretic
Vasotec
Vasotec IV
enalapril
3
LosartanapprovedPhase 3276114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
4
Maleic acidexperimentalPhase 3274110-16-7444972, 444266
Synonyms:
(2Z)-2-Butenedioate
(2Z)-2-Butenedioic acid
(2Z)-Butene-2-dioate
(2Z)-Butene-2-dioic acid
(2Z)-but-2-enedioate
(2Z)-but-2-enedioic acid
(Z)-2-Butenedioate
(Z)-2-Butenedioic acid
(z)-butenedioate
(z)-butenedioic acid
2-Butenedioate
2-Butenedioic acid
Cis-butenedioate
Cis-butenedioic acid
 
H2male
Kyselina maleinova
MAE
Maleate
Maleic acid
Maleic acid [NA2215]
Maleinic acid
Malenic acid
Malezid CM
Scotchbond multipurpose etchant
Toxilic acid
cis-1,2-Ethylenedicarboxylic acid
cis-2-Butenedioate
cis-2-Butenedioic acid
cis-But-2-enedioate
cis-But-2-enedioic acid
5
Angiotensin IIPhase 3103368521-88-0, 11128-99-7172198, 65143
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
6HIV Protease InhibitorsPhase 34558
7Angiotensin Receptor AntagonistsPhase 31039
8Angiotensin-Converting Enzyme InhibitorsPhase 3634
9Vasodilator AgentsPhase 32926
10
EnalaprilatPhase 311276420-72-96917719
Synonyms:
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid
(2S)-1-[(2S)-2-[[(2S)-1-hydroxy-1-oxo-4-phenylbutan-2-yl]amino]propanoyl]pyrrolidine-2-carboxylic acid dihydrate
1-((2S)-2-{[(1S)-1-CARBOXY-3-PHENYLPROPYL]AMINO}PROPANOYL)-L-PROLINE
1-(N-((S)-1-Carboxy-3-phenylpropyl)-L-alanyl)-L-proline dihydrate
76420-72-9
AC1NUWEA
AC1OCEK7
BIDD:GT0752
C11720
C18H24N2O5.2H2O
CHEBI:116759
CHEBI:42302
CHEBI:4786
CHEBI:59877
CHEMBL1200697
CHEMBL577
CID5462501
CID6917719
CPD000466359
D03769
EAL
ENALAPRILAT INHIBITOR
Enalapril acid
Enalapril diacid
 
Enalaprilat
Enalaprilat (USP)
Enalaprilat anhydrous
Enalaprilate
Enalaprilatum
Enalaprilic acid
Enalprilate hydrate
HMS2051H16
HMS2089P04
LS-118903
LS-187219
MK-422
MLS000759476
MLS001424138
MolPort-005-943-792
N-[(1S)-1-Carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline
N-[(1S)-1-carboxy-3-phenylpropyl]-L-alanyl-L-proline--water (1/2)
NCGC00164593-01
S1657_Selleck
SAM001246684
SBB065733
SMR000466359
Vasotec I.V.
enalprilat hydrate
11Protease InhibitorsPhase 34558
12Anti-Arrhythmia AgentsPhase 32371
13AngiotensinogenPhase 31032
14Angiotensin II Type 1 Receptor BlockersPhase 3949
15Antihypertensive AgentsPhase 33618
16calcium channel blockersPhase 31743
17Calcium, DietaryPhase 34678
18
MetforminapprovedPhase 21645657-24-9, 1115-70-414219, 4091
Synonyms:
1,1-Dimethyl biguanide
1,1-Dimethylbiguanide
3-(diaminomethylidene)-1,1-dimethylguanidine
657-24-9
AC1L1HE4
AKOS000121065
Apo-Metformin
BIDD:GT0697
BPBio1_000009
BRD-K79602928-003-04-1
BSPBio_000007
BSPBio_002314
C07151
C4H11N5
CAS-1115-70-4
CCRIS 9321
CHEBI:6801
CHEMBL1431
CID4091
D04966
DB00331
DMBG
DMGG
Diabefagos
Diabetosan
Diabex
Diaformin
Dianben
Dimethylbiguanid
Dimethylbiguanide
Dimethylbiguanidine
Dimethyldiguanide
Dimethylguanylguanidine
EINECS 211-517-8
Fluamine
Flumamine
Fortamet
Gen-Metformin
Glifage
Gliguanid
Glucophage
Glucophage XR
Glumetza
Glycon
HMS2089D19
HSCI1_000295
Haurymelin
Haurymellin
Islotin
KBio2_002310
KBio2_004878
KBio2_007446
KBio3_002790
KBioGR_002310
 
KBioSS_002312
LA-6023
LS-43899
Meguan
Melbin
Metformin
Metformin (USAN/INN)
Metformin HCL
Metformin Hydrochloride
Metformin [USAN:INN:BAN]
Metformina
Metformina [DCIT]
Metformina [Spanish]
Metformine
Metformine [INN-French]
Metformine pamoate
Metforminum
Metforminum [INN-Latin]
Metiguanide
MolPort-002-929-560
MolPort-004-288-389
MolPort-005-767-418
Mylan-Metformin
N,N-Dimethylbiguanide
N,N-Dimethyldiguanide
N,N-Dimethylimidodicarbonimidic diamide
N,N-dimethylimidodicarbonimidic diamide
N1,N1-Dimethylbiguanide
NCGC00016564-01
NCGC00016564-02
NCGC00016564-03
NNDG
Novo-Metformin
Nu-Metformin
Obimet
PMS-Metformin
Prestwick0_000004
Prestwick1_000004
Prestwick2_000004
Prestwick3_000004
Ran-Metformin
Ratio-Metformin
Riomet
S2483_Selleck
SPBio_001928
STK011633
Sandoz Metformin
Siofor
T5895664
Teva-Metformin
UNII-9100L32L2N
ZINC12859773
cMAP_000016
metformin
metformin hydrochloride
19
Insulin GlargineapprovedPhase 2495160337-95-1
Synonyms:
Insulin Glargine (rDNA origin)
 
Lantus
Lantus Solostar
20Insulin, Globin ZincPhase 24278
21insulinPhase 24278
22
Vorinostatapproved, investigationalPhase 1238149647-78-95311
Synonyms:
149647-78-9
1zz1
AC-1923
AC1L1K2K
BRD-K81418486-001-10-3
C111237
CCRIS 8456
CHEBI:45716
CHEMBL98
CID5311
D06320
DB02546
EC-000.2057
FT-0082592
LS-186548
LS-186997
LS-187780
MK-0683
MK0683
MLS001065855
Merck brand of Vorinostat
MolPort-003-850-293
N'-hydroxy-N-phenyloctanediamide
N-Hydroxy-N'-phenyl octanediamide
N-Hydroxy-N'-phenyloctanediamide
N-Hyrdroxy-N'-phenyloctanediamide
N-hydroxy-N'-phenyl-octane-1,8-diotic acid diamide
N-hydroxy-N'-phenyloctanediamide
N1-hydroxy-N8-phenyloctanediamide
NCGC00168085-02
 
NHNPODA
NSC-701852
NSC701852
OCTANEDIOIC ACID HYDROXYAMIDE PHENYLAMIDE
Octanedioic acid hydroxyamide phenylamide
S1047_Selleck
SAHA
SAHA cpd
SAHA, Suberoylanilide hydroxamic acid
SHH
SKI390
SMR000486344
SW-064652
Suberanilohydroxamic acid
SuberoylaN/Aide hydroxamic acid
Suberoylanilide hydroxamic acid
UNII-58IFB293JI
Vorinostat
Vorinostat (JAN/USAN)
Vorinostat MSD
Vorinostat [USAN]
Vorinostatum
WIN64652
ZINC01543873
Zolinza
Zolinza (TN)
Zolinza, MK-0683, SAHA
m344
nchembio.275-comp2
nchembio.313-comp1
nchembio815-comp18
suberoylanilide hydroxamic acid
23
Decitabineapproved, investigationalPhase 12082353-33-5451668
Synonyms:
-Deoxycytidine
-azacytidine
2'-Deoxy-5-azacytidine
2353-33-5
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-1,3,5-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-erythro-pentofuranosyl)-s-triazin-2(1H)-one
4-Amino-1-(2-deoxy-beta-D-ribofuranosyl)-1,3,5-triazin-2(1H)-one
4-amino-1-(2-Deoxy-beta-D-erythro-pentofuranosyl)-S-triazin-2(1H)-one
4-amino-1-[(2R,4S,5R)-4-hydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,3,5-triazin-2-one
5-AZAdC
5-Aza-2&prime
5-Aza-2'-deoxycytidine
5-Azadeoxycytidine
5-Deoxy-2&prime
5-aza-2'-deoxycytidine
5-aza-2-deoxycytidine
5-aza-CdR
5-aza-dC
5A2dc
A3656_SIGMA
AC-1135
AC1L9PS9
AzadC
 
Azadc
CHEBI:50131
CHEMBL1201129
CID451668
D03665
DB01262
Dacogen
Dacogen (TN)
Dacogen, 5-aza-2'-deoxycytidine,NSC 127716, Dacogen, DAC, Decitabine
Decitabine
Decitabine (USAN/INN)
Dezocitidine
E-7373
FT-0082622
MLS001332587
MLS001332588
MolMap_000063
NCGC_5ADOC
NSC-127716
NSC127716
S1200_Selleck
SBB066121
SMR000857076
TL8001944
24
Bortezomibapproved, investigational, experimentalPhase 1769179324-69-7387447, 93860
Synonyms:
179324-69-7
AC1L8TUW
Bortezomib
Bortezomib (JAN/USAN/INN)
CHEBI:287372
CHEBI:41143
CHEMBL325041
CID387447
D03150
DB07475
DPBA
FT-0082488
I14-3268
LDP-341
LDP341
LPD 341
LPD-341
 
MLN341
MolPort-003-845-298
N-[(1R)-1-(DIHYDROXYBORYL)-3-METHYLBUTYL]-N-(PYRAZIN-2-YLCARBONYL)-L-PHENYLALANINAMIDE
N-[(1R)-1-(DIHYDROXYBORYL)-3-methylbutyl]-N-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
N-[(1R)-1-(dihydroxyboranyl)-3-methylbutyl]-Nalpha-(pyrazin-2-ylcarbonyl)-L-phenylalaninamide
NCI60_029010
NSC-681239
NSC681239
PROSCRIPT BORONIC ACID
PS 341
PS-341
Pyz-Phe-boroLeu
S1013_Selleck
SBB071337
Velcade
Velcade (TN)
Velcade, MG-341, PS-341, Bortezomib
[(1R)-3-methyl-1-[[(2S)-3-phenyl-2-(pyrazine-2-carbonylamino)propanoyl]amino]butyl]boronic acid
bortezomib
25Antimetabolites, AntineoplasticPhase 15770
26Histone Deacetylase InhibitorsPhase 1532
27AntimetabolitesPhase 19454

Interventional clinical trials:

idNameStatusNCT IDPhase
1An Extension Study Designed to Assess Effects of Losartan on Proteinuria in Pediatric Populations (MK-0954-326 AM1,EXT1(AM2))CompletedNCT00568178Phase 3
2Dose Range Finding Study of MK-0941 in Patients With Type 2 Diabetes Mellitus on Insulin (MK-0941-007 AM3 EXT1 AM1)(TERMINATED)TerminatedNCT00767000Phase 2
3An Extension Study Evaluating Safety and Efficacy of Proellex® In Women Who Have Previously Completed ZPU 003 ExtTerminatedNCT00958893Phase 2
4Phase 1 Study of Vorinostat and Bortezomib in Multiple Myeloma (MK-0683-015 EXT 1 (AM1))CompletedNCT00111813Phase 1
5Phase I Trial of Vorinostat (MK-0683, SAHA) in Combination With Decitabine in Patients With AML or MDS (MK-0683-055 EXT1)CompletedNCT00479232Phase 1
6Vorinostat (MK-0683) Phase I Study in Cutaneous T-Cell Lymphoma (CTCL) Patients (MK-0683-089 EXT1)CompletedNCT00771472Phase 1
7Exercise in Type 1 Diabetes MellitusCompletedNCT02075567

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Genetic Tests for Exostoses, Multiple, Type 2

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Anatomical Context for Exostoses, Multiple, Type 2

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MalaCards organs/tissues related to Exostoses, Multiple, Type 2:

33
Bone, T cells

Animal Models for Exostoses, Multiple, Type 2 or affiliated genes

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Publications for Exostoses, Multiple, Type 2

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Variations for Exostoses, Multiple, Type 2

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UniProtKB/Swiss-Prot genetic disease variations for Exostoses, Multiple, Type 2:

67
id Symbol AA change Variation ID SNP ID
1EXT2p.Asp227AsnVAR_002378
2EXT2p.Cys85ArgVAR_012823
3EXT2p.Leu152ArgVAR_012824
4EXT2p.Arg179SerVAR_012825
5EXT2p.Ala202ValVAR_012826
6EXT2p.Arg223ProVAR_012827
7EXT2p.Ile380ThrVAR_012828

Clinvar genetic disease variations for Exostoses, Multiple, Type 2:

5
id Gene Variation Type Significance SNP ID Assembly Location
1EXT2NM_000401.3(EXT2): c.553_556delCTGT (p.Val187Profs)deletionPathogenicrs864309636GRCh38Chr 11, 44108166: 44108169
2EXT2NM_000401.3(EXT2): c.613C> T (p.Gln205Ter)single nucleotide variantPathogenicrs121918279GRCh37Chr 11, 44129776: 44129776
3EXT2NM_000401.3(EXT2): c.1404+1G> Asingle nucleotide variantPathogenicrs864309637GRCh38Chr 11, 44171743: 44171743
4EXT2NM_000401.3(EXT2): c.778G> A (p.Asp260Asn)single nucleotide variantPathogenicrs121918280GRCh37Chr 11, 44135787: 44135787
5EXT2NM_000401.3(EXT2): c.765C> G (p.Tyr255Ter)single nucleotide variantPathogenicrs121918281GRCh37Chr 11, 44135774: 44135774
6EXT2NM_000401.3(EXT2): c.871C> T (p.Gln291Ter)single nucleotide variantPathogenicrs267606786GRCh37Chr 11, 44146367: 44146367
7EXT2NM_000401.3(EXT2): c.843-2A> Csingle nucleotide variantPathogenicrs864309638GRCh38Chr 11, 44124787: 44124787

Expression for genes affiliated with Exostoses, Multiple, Type 2

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Search GEO for disease gene expression data for Exostoses, Multiple, Type 2.

Pathways for genes affiliated with Exostoses, Multiple, Type 2

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GO Terms for genes affiliated with Exostoses, Multiple, Type 2

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Sources for Exostoses, Multiple, Type 2

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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