MCID: ATR023
MIFTS: 19

Atrial Septal Defect 5 malady

Category: Genetic diseases (common)

Aliases & Classifications for Atrial Septal Defect 5

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Aliases & Descriptions for Atrial Septal Defect 5:

Name: Atrial Septal Defect 5 50 23 68 25 12 66
 
Asd5 23 68

Classifications:



External Ids:

OMIM50 612794
MedGen35 C2748552
MeSH37 D006344

Summaries for Atrial Septal Defect 5

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UniProtKB/Swiss-Prot:68 Atrial septal defect 5: A congenital heart malformation characterized by incomplete closure of the wall between the atria resulting in blood flow from the left to the right atria.

MalaCards based summary: Atrial Septal Defect 5, is also known as asd5, and has symptoms including atria septal defect An important gene associated with Atrial Septal Defect 5 is ACTC1 (Actin, Alpha, Cardiac Muscle 1). Affiliated tissues include heart.

Description from OMIM:50 612794

Related Diseases for Atrial Septal Defect 5

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Symptoms for Atrial Septal Defect 5

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Clinical features from OMIM:

612794

HPO human phenotypes related to Atrial Septal Defect 5:

id Description Frequency HPO Source Accession
1 atria septal defect HP:0001631

Drugs & Therapeutics for Atrial Septal Defect 5

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Drugs for Atrial Septal Defect 5 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AspirinPhase 2107450-78-22244
Synonyms:
11126-35-5
11126-37-7
1oxr
2-(ACETYLOXY)benzoic acid
2-(Acetyloxy)benzoate
2-(Acetyloxy)benzoic acid
2-Acetoxybenzenecarboxylic acid
2-Acetoxybenzoate
2-Acetoxybenzoic acid
2-Carboxyphenyl acetate
2349-94-2
26914-13-6
50-78-2
8-hour Bayer
98201-60-6
A 5376
A.S.A
A.S.A.
A.S.A. Empirin
A.S.A. empirin
A2093_SIGMA
A3160_SIGMA
A5376_SIGMA
A6810_SIGMA
AB1003266
AC 5230
AC1L1D8U
AC1Q1LA0
ACETYLSALICYLIC ACID
AI3-02956
AIN
AKOS000118884
ASA
Acenterine
Acesal
Acetal
Acetard
Aceticyl
Acetilsalicilico
Acetilum acidulatum
Acetisal
Acetol
Acetonyl
Acetophen
Acetosal
Acetosalic acid
Acetosalin
Acetoxybenzoic acid
Acetylin
Acetylsal
Acetylsalicylate
Acetylsalicylic acid
Acetylsalicylsaeure
Acetylsalicylsaure
Acetylsalycilic acid
Acetyonyl
Acetysal
Acetysalicylic acid
Acide 2-(acetyloxy)benzoique
Acide acetylsalicylique
Acide acétylsalicylique
Acido O-acetil-benzoico
Acido acetilsalicilico
Acidum acetylsalicylicum
Acimetten
Acisal
Acylpyrin
Adiro
Aloxiprimum
Asacard
Asagran
Asatard
Ascoden-30
Aspalon
Aspec
Aspergum
Aspir-Mox
Aspirdrops
Aspirin
Aspirin (JP15/USP)
Aspirin [BAN:JAN]
Aspirina 03
Aspirine
Asprin
Aspro
Aspro Clear
Asteric
Azetylsalizylsaeure
Azetylsalizylsäure
BIDD:GT0118
BRN 0779271
Bay-e-4465
Bayer
Bayer Aspirin 8 Hour
Bayer Buffered
Bayer Extra Strength Aspirin For Migraine Pain
Bayer Plus
Benaspir
Bi-prin
Bialpirina
Bialpirinia
Bufferin
C01405
CCRIS 3243
CHEBI:15365
CHEMBL25
CID2244
Caprin
Cardioaspirin
Cardioaspirina
Cemirit
Claradin
Clariprin
Colfarit
Contrheuma retard
Coricidin
Crystar
D00109
D001241
DB00945
Decaten
Delgesic
Dispril
DivK1c_000555
Dolean pH 8
Duramax
ECM
EINECS 200-064-1
EU-0100038
Easprin
Easprin (TN)
Ecolen
Ecotrin
Empirin
Empirin with Codeine
Endosprin
Endydol
 
Entericin
Enterophen
Enterosarein
Enterosarine
Entrophen
Extren
Globentyl
Globoid
HMS1920E13
HMS2090G03
HMS2091K13
HMS501L17
HSDB 652
Helicon
I14-7505
IDI1_000555
Idragin
Istopirin
KBio1_000555
KBio2_001725
KBio2_002271
KBio2_004293
KBio2_004839
KBio2_006861
KBio2_007407
KBio3_002149
KBio3_002751
KBioGR_000398
KBioGR_002271
KBioSS_001725
KBioSS_002272
Kapsazal
Kyselina 2-acetoxybenzoova
Kyselina acetylsalicylova
LS-143
Levius
Lopac-A-5376
Lopac0_000038
MLS001055329
MLS001066332
MLS001336045
MLS001336046
Magnecyl
Measurin
Medisyl
Micristin
MolPort-000-871-622
NCGC00015067-01
NCGC00015067-04
NCGC00015067-09
NCGC00090977-01
NCGC00090977-02
NCGC00090977-03
NCGC00090977-04
NCGC00090977-05
NCGC00090977-06
NCGC00090977-07
NCI60_002222
NINDS_000555
NSC 27223
NSC27223
NSC406186
Neuronika
Novid
Nu-seals
Nu-seals aspirin
O-(Acetyloxy)benzoate
O-(Acetyloxy)benzoic acid
O-Acetoxybenzoate
O-Acetoxybenzoic acid
O-Acetylsalicylic acid
O-Carboxyphenyl acetate
O-accetylsalicylic acid
O-acetylsalicylic acid
PL-2200
Persistin
Pharmacin
Pirseal
Polopirin
Polopiryna
Premaspin
R16CO5Y76E [UNII]
Rheumin tabletten
Rheumintabletten
Rhodine
Rhonal
Ronal
S-211
SMR000059138
SP 189
SPBio_001838
SPECTRUM1500130
ST075414
Salacetin
Salcetogen
Saletin
Salicylic acid acetate
Salicylic acid, acetate
Salospir
Solfrin
Solprin
Solprin acid
Solpyron
Solupsan
Spectrum2_001899
Spectrum3_001295
Spectrum4_000099
Spectrum5_000740
Spectrum_001245
Spira-Dine
St. Joseph
St. Joseph Aspirin for Adults
Supac
Tasprin
Temperal
Toldex
Triaminicin
Triple-sal
UNII R16CO5Y76E
UNII-R16CO5Y76E
UNII=R16CO5Y76E
UNM-0000306102
Vanquish
WLN: QVR BOV1
XAXA
Xaxa
Yasta
ZORprin
aspirin
cMAP_000006
component of Midol
component of Synirin
nchem.859-comp6
o-Acetoxybenzoic acid
o-Carboxyphenyl acetate
o-acetoxybenzoic acid
o-carboxyphenyl acetate
ácido acetilsalicílico
2
HeparinPhase 27799005-49-6772, 46507594
Synonyms:
101921-26-0
102-94-3
102785-31-9
104521-37-1
11078-24-3
11129-39-8
12656-11-0
2-o-sulfohexopyranuronosyl-(1->4)-2-deoxy-3-o-sulfo-2-(sulfoamino)hexopyranosyl-(1->4)-2-o-sulfohexopyranuronosyl-(1->4)-2-acetamido-2-deoxy-6-o-sulfohexopyranose
37324-73-5
6-[6-[6-[5-acetamido-4,6-dihydroxy-2-(sulfooxymethyl)oxan-3-yl]oxy-2-carboxy-4-hydroxy-5-sulfooxyoxan-3-yl]oxy-2-(hydroxymethyl)-5-(sulfoamino)-4-sulfooxyoxan-3-yl]oxy-3,4-dihydroxy-5-sulfooxyoxane-2-carboxylic acid
9041-08-1
9045-22-1
9075-96-1
913079-23-9
91449-79-5
AC1L19ZN
AC1L1ROY
ALFA 87-120
ALFA 87-163
ALFA 87-198
ALFA 87-81
ALFA 88-247
AR-1E4539
Allocinnamic acid
Ardeparin
Ardeparin sodium
Arteven
Bemiparin
Bemiparin sodium
CID772
CID8784
CY 216
Calciparine
Certoparin
Clexane
Clivarin
Clivarine
Cy 222
D006495
D017984
DB00407
DB01225
Dalteparin
Dalteparin sodium
Depo-Heparin
EINECS 232-681-7
EMT 966
EMT 967
EMT-966
EMT-967
EMT966
EMT967
Enoxaparin
Enoxaparin sodium
Enoxaparine
Eparina
Eparina [DCIT]
FR 860
Fluxum
Fragmin A
Fragmin B
Fragmin IV
Fraxiparin
H 2149
HSDB 3094
Hed-heparin
Hep Flush Kit in plastic container
Hep-Lock
Hep-Lock U/P
Hep-lock
Heparin
Heparin CY 216
Heparin Lock Flush
Heparin Lock Flush in plastic container
Heparin Lock Flush preservative free
Heparin Lock Flush preservative free in plastic container
Heparin Sodium
Heparin natrium
Heparin sodium
Heparin sodium 1,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 1,000 units in dextrose 5% in plastic container
Heparin sodium 1,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 10,000 units in dextrose 5%
Heparin sodium 10,000 units in dextrose 5% in plastic container
Heparin sodium 10,000 units in sodium chloride 0.45%
Heparin sodium 10,000 units in sodium chloride 0.9%
Heparin sodium 12,500 units in dextrose 5%
Heparin sodium 12,500 units in dextrose 5% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.45% in plastic container
Heparin sodium 12,500 units in sodium chloride 0.9%
Heparin sodium 2,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 2,000 units in dextrose 5% in plastic container
Heparin sodium 2,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 20,000 units and dextrose 5% in plastic container
Heparin sodium 20,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units and dextrose 5% in plastic container
 
Heparin sodium 25,000 units in dextrose 5%
Heparin sodium 25,000 units in dextrose 5% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.45% in plastic container
Heparin sodium 25,000 units in sodium chloride 0.9%
Heparin sodium 25,000 units in sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units and sodium chloride 0.9% in plastic container
Heparin sodium 5,000 units in dextrose 5% in plastic container
Heparin sodium 5,000 units in sodium chloride 0.45%
Heparin sodium 5,000 units in sodium chloride 0.9%
Heparin sodium 5,000 units in sodium chloride 0.9% in plastic container
Heparin sodium in plastic container
Heparin sodium preservative Free
Heparin sulfate
Heparin sulphate
Heparin, Low Molecular Weight
Heparin, Low-Molecular-Weight
Heparin, sodium salt
Heparina
Heparina [INN-Spanish]
Heparinate
Heparine
Heparine [INN-French]
Heparinic acid
Heparinsodiumsalt
Heparinum
Heparinum [INN-Latin]
Heparinum natricum
Hepathrom
Hepflush-10
Inno-Hep
Innohep
Isocinnamic acid
KB 101
Kabi 2165
LHN 1
LMWH
Lioton 1000
Lipo-hepin
Liquaemin
Liquaemin Lock Flush
Liquaemin Sodium
Liquaemin sodium preservative free
Liquemin
Logiparin
Lovenox
Lovenox HP
Low Molecular Weight Heparin
Low molecular weight heparin
Low molecular weight heparin sodium
Low-Molecular-Weight Heparin
Minolteparin sodium
MolPort-003-760-257
Multiparin
NSC174025
Nadroparin
Nadroparine
Novoheparin
OP 386
OP 622
Octaparin
PK 10,169
PK-10,169
PK-10169
PK10,169
PK10169
Pabyrin
Panheprin
Parnaparin
Parnaparin sodium
Parvoparin
Pularin
Reviparin
Reviparin sodium
Ro 11
Sandoparin
Sodium acid heparin
Sodium heparin
Sodium heparinate
Subeparin
Sublingula
Thromboliquine
Tinzaparin
Tinzaparin sodium
Triofiban
UNII-12M44VTJ7B
UNII-3S182ET3UA
UNII-E47C0NF7LV
UNII-T2410KM04A
UNII-ZZ45AB24CA
Unfractionated heparin
Vetren
Vitrum AB
WY 90493RD
alpha-Heparin
cis-.beta.-Carboxystyrene
cis-Cinnamic acid
enoxaparin
heparin
3
DalteparinPhase 22899041-08-1
Synonyms:
Daltepariininatrium
Dalteparin Sodyum
Dalteparin sodium
Dalteparin sodná sůl
Dalteparin-nátrium
Dalteparina sódica
 
Dalteparinnatrium
Dalteparino natrio druska
Dalteparinum Natricum
Dalteparyna sodowa
Daltéparine sodique
Heparin Fragment KABI 2165
Tedelparin
4calcium heparinPhase 2779
5
ClopidogrelPhase 2733120202-66-6, 113665-84-260606
Synonyms:
( )-(S)-Clopidogrel
(+)-(S)-Clopidogrel
(+)-Clopidogrel
(S)-Clopidogrel
(S)-Methyl 2-(2-chlorophenyl)-2-(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)acetate
113665-84-2
AC-19024
AC1L1TKZ
AC1Q41I9
BIDD:GT0284
BRD-K27721098-065-02-9
BSPBio_003211
C16H16ClNO2S
CGE
CHEBI:37941
CHEMBL1771
CID60606
CLOPIDOGREL SULFATE
CPD000550475
Clopidogrel
Clopidogrel (INN)
Clopidogrel (TN)
Clopidogrel [BAN:INN]
Clopidogrel [Ban:Inn]
Clopidogrel [INN:BAN]
Clopidogrel bisulfate
Clopidogrel bisulphate
Clopidogrel sulfate
Clopidogrelum
D07729
DB00758
DivK1c_000787
HMS2090O21
HMS502H09
HSDB 7430
IDI1_000787
 
Isocover
KBio1_000787
KBio2_000545
KBio2_003113
KBio2_005681
KBio3_002431
KBioGR_000689
KBioSS_000545
LS-172232
MLS001165708
MLS001195633
MLS001304711
Methyl (+)-(S)-alpha-(o-chlorophenyl)-6,7-dihydrothieno(3,2-c)pyridine-5(4H)-acetate
MolPort-002-885-817
MolPort-003-845-991
NCGC00163329-02
NINDS_000787
Plavix
Plavix (TN)
SAM002589956
SMR000550475
SPBio_000463
SR 25990
STK580572
STOCK5S-27782
Spectrum2_000512
Spectrum3_001606
Spectrum4_000175
Spectrum_000105
TL8000400
UNII-A74586SNO7
Zyllt
clopidogrel
clopidogrel, (+)(S)-isomer
methyl (2S)-(2-chlorophenyl)(6,7-dihydrothieno[3,2-c]pyridin-5(4H)-yl)ethanoate
methyl (2S)-2-(2-chlorophenyl)-2-(6,7-dihydro-4H-thieno[3,2-c]pyridin-5-yl)acetate
nchem.651-comp8
6Sildenafil citrate315171599-83-0
7
Citric Acid106377-92-9311
Synonyms:
2-Hydroxy-1,2,3-propanetricarboxylate
2-Hydroxy-1,2,3-propanetricarboxylic acid
2-Hydroxytricarballylic acid
3-Carboxy-3-hydroxypentane-1,5-dioate
3-Carboxy-3-hydroxypentane-1,5-dioic acid
Aciletten
Anhydrous citrate
Anhydrous citric acid
Chemfill
Citraclean
 
Citrate
Citretten
Citric acid
Citro
Citronensäure
E 330
Hydrocerol A
Kyselina citronova
Suby G
Uro-trainer
beta-Hydroxytricarballylate
beta-Hydroxytricarballylic acid
8
Bosentan102147536-97-8104865
Synonyms:
-5-(o-methoxyphenoxy)-2-(2-pyrimidinyl)-4-pyrimidinyl]benzenesulfonamide
147536-97-8
174227-18-0
4-(1,1-Dimethylethyl)-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-(2,2'-bipyrimidin)-4-yl) benzenesulfornamide
4-(1,1-Dimethylethyl)-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-(2,2'-bipyrimidin)-4-yl)benzenesulfornamide
4-t-butyl-N-(6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2,2'-bipyrimidin-4-yl)benzenesulfonamide
4-tert-butyl-N-[6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2,2'-bipyrimidin-4-yl]benzenesulfonamide
4-tert-butyl-N-[6-(2-hydroxyethoxy)-5-(2-methoxyphenoxy)-2-pyrimidin-2-ylpyrimidin-4-yl]benzenesulfonamide
AC-148
AC1L2XN2
Actelion
Bosentan
Bosentan (INN)
Bosentan [USAN:INN:BAN]
Bosentan hydrate
C27H29N5O6S
CHEBI:51450
CHEMBL957
CID104865
D07538
DB00559
 
EN002863
HMS2090N14
I06-1873
KS-5062
L001086
LS-31532
MolPort-003-845-300
NCGC00167440-01
PDSP1_001731
PDSP2_001714
Ro 47-0203
Ro 47-0203/039
Ro-47-0203
Ro-47-0203/029
Ro-47-0203/039
TL8001039
Tracleer
UNII-XUL93R30K2
bosentan
bosentanum
bosentán
p-tert-Butyl-N-(6-(2-hydroxyethoxy)-5-(o-methoxyphenoxy)-2-(2-pyrimidinyl)-4-pyrimidinyl)benzenesulfonamide
p-tert-Butyl-N-[6-(2-hydroxyethoxy)
9
Benzocaine17941994-09-7, 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
10CitrateNutraceutical1063
11tannic acidNutraceutical1794

Interventional clinical trials:

idNameStatusNCT IDPhase
1Cardiox Shunt Detection Technology StudyTerminatedNCT01333761Phase 3
2Precutaneous High Risk Patent Foramen Ovale to Treat Migraine HeadachesNot yet recruitingNCT02777359Phase 2
3Patients With Patent Foramen Ovale and Endocardial Device Leads on Apixaban for Prevention of Paradoxical EmboliWithdrawnNCT02378623Phase 2
4Pulmonary Hypertension in Trisomy 21 PatientsCompletedNCT00478296
5Evaluation of Latent Pulmonary Arterial Hypertension in Congenital Shunt LesionsCompletedNCT02552485
6EVEREST II Pivotal Study High Risk Registry (HRR)CompletedNCT01940120
7ADVANCE ASO AMPLATZER™ Atrial Septal Occluder Post Market Surveillance StudyRecruitingNCT02353351
8Searching for Explanations for Cryptogenic Stroke in the Young: Revealing the Etiology, Triggers, and OutcomeRecruitingNCT01934725
9Pivotal Study of a Percutaneous Mitral Valve Repair SystemActive, not recruitingNCT00209274
10Comparison of Oxygen Saturation During Different Intraoperative PositionsTerminatedNCT01744886

Search NIH Clinical Center for Atrial Septal Defect 5

Genetic Tests for Atrial Septal Defect 5

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Genetic tests related to Atrial Septal Defect 5:

id Genetic test Affiliating Genes
1 Atrial Septal Defect 525 23 ACTC1

Anatomical Context for Atrial Septal Defect 5

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MalaCards organs/tissues related to Atrial Septal Defect 5:

34
Heart

Animal Models for Atrial Septal Defect 5 or affiliated genes

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Publications for Atrial Septal Defect 5

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Variations for Atrial Septal Defect 5

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UniProtKB/Swiss-Prot genetic disease variations for Atrial Septal Defect 5:

68
id Symbol AA change Variation ID SNP ID
1ACTC1p.Met125ValVAR_046502rs121912677

Clinvar genetic disease variations for Atrial Septal Defect 5:

5
id Gene Variation Type Significance SNP ID Assembly Location
1NM_005159.4(ACTC1): c.373A> G (p.Met125Val)single nucleotide variantPathogenicrs121912677GRCh37Chr 15, 35085527: 35085527
2NM_005159.4(ACTC1): c.214_230del17 (p.Pro72Hisfs)deletionPathogenicrs387906585GRCh37Chr 15, 35085670: 35085686

Expression for genes affiliated with Atrial Septal Defect 5

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Search GEO for disease gene expression data for Atrial Septal Defect 5.

Pathways for genes affiliated with Atrial Septal Defect 5

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GO Terms for genes affiliated with Atrial Septal Defect 5

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Sources for Atrial Septal Defect 5

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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