MCID: FML089
MIFTS: 36

Familial Thoracic Aortic Aneurysm and Dissection malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Familial Thoracic Aortic Aneurysm and Dissection

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Aliases & Descriptions for Familial Thoracic Aortic Aneurysm and Dissection:

Name: Familial Thoracic Aortic Aneurysm and Dissection 45 23
Familial Aortic Dissection 45 23 51
Annuloaortic Ectasia 45 23 51
Familial Thoracic Aortic Aneurysm 45 23
Cystic Medial Necrosis of Aorta 51 65
Familial Aortic Aneurysm 45 23
Familial Taad 45 23
Congenital Aneurysm of Ascending Aorta 23
 
Aortic Aneurysm, Thoracic 65
Thoracic Aortic Aneurysm 23
Erdheim Disease 51
Ftaad 23
Taad 23
Taa 23
Faa 23


Classifications:



Characteristics (Orphanet epidemiological data):

51
familial aortic dissection:
Age of onset: All ages


External Ids:

Orphanet51 229
ICD10 via Orphanet28 I71.0

Summaries for Familial Thoracic Aortic Aneurysm and Dissection

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Genetics Home Reference:23 Familial thoracic aortic aneurysm and dissection (familial TAAD) involves problems with the aorta, which is the large blood vessel that distributes blood from the heart to the rest of the body. Familial TAAD affects the upper part of the aorta, near the heart. This part of the aorta is called the thoracic aorta because it is located in the chest (thorax). Other vessels that carry blood from the heart to the rest of the body (arteries) can also be affected.

MalaCards based summary: Familial Thoracic Aortic Aneurysm and Dissection, also known as familial aortic dissection, is related to loeys-dietz syndrome type 2a and arthropathy. An important gene associated with Familial Thoracic Aortic Aneurysm and Dissection is MYH11 (Myosin, Heavy Chain 11, Smooth Muscle), and among its related pathways are Cell adhesion_Plasmin signaling and Glypican 1 network. Affiliated tissues include heart, and related mouse phenotypes are skeleton and muscle.

Wikipedia:68 Familial aortic dissection or FAD refers to the splitting of the wall of the aorta in either the arch,... more...

Related Diseases for Familial Thoracic Aortic Aneurysm and Dissection

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Diseases related to Familial Thoracic Aortic Aneurysm and Dissection via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 389)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome type 2a30.5TGFBR1, TGFBR2
2arthropathy29.4FBN1, SMAD3, TGFBR2
3aortic disease29.1FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
4thoracic aortic aneurysm10.9
5aortic aneurysm10.9
6aneurysm10.9
7paraplegia10.7
8dysphagia10.7
9marfan syndrome/loeys-dietz syndrome/familial thoracic aortic aneurysms and dissections10.6
10cerebritis10.6
11esophagitis10.6
12bowman's membrane folds or rupture10.6
13melanoma10.5
14coronary artery disease10.5
15coronary heart disease 510.5
16multisystemic smooth muscle dysfunction syndrome10.5
17aortic coarctation10.5
18wiskott-aldrich syndrome10.4
19mediastinitis10.4
20prkg1-related thoracic aortic aneurysms and aortic dissections10.4
21mfap5-related thoracic aortic aneurysms and aortic dissections10.4
22mylk-related thoracic aortic aneurysms and aortic dissections10.4
23patent ductus arteriosus10.4
24marfan syndrome10.4
25loeys-dietz syndrome 510.3
26limb ischemia10.3
27artery disease10.3
28ehlers-danlos syndrome10.3
29laryngitis10.3
30pneumonia10.3
31syphilis10.3
32turner syndrome10.3
33cardiac rupture10.3
34coronary artery aneurysm10.3
35loeys-dietz syndrome type 1a10.3
36loeys-dietz syndrome type 1b10.3
37loeys-dietz syndrome type 2b10.3
38kommerell diverticulum10.3
39shprintzen-goldberg syndrome10.3
40loeys-dietz syndrome10.3
41cardiac tamponade10.3
42dextrocardia10.3
43coronary aneurysm10.3
44aortitis10.3
45loeys-dietz syndrome 110.3
46aortic aneurysm, familial thoracic 610.3
47aortic aneurysm, familial thoracic 110.3
48spondylosis10.3
49pulmonary edema10.3
50cystic medial necrosis of aorta10.3

Graphical network of the top 20 diseases related to Familial Thoracic Aortic Aneurysm and Dissection:



Diseases related to familial thoracic aortic aneurysm and dissection

Symptoms for Familial Thoracic Aortic Aneurysm and Dissection

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Drugs & Therapeutics for Familial Thoracic Aortic Aneurysm and Dissection

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Drugs for Familial Thoracic Aortic Aneurysm and Dissection (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
NicotineapprovedPhase 292354-11-5942, 89594
Synonyms:
(−
(+)-Nicotine
(+-)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(+-)-Nicotine
(-)-3-(1-Methyl-2-pyrrolidyl)pyridine
(-)-3-(N-Methylpyrrolidino)pyridine
(-)-Nicotine
(-)-Nicotine solution
(2S) 3-(1-Methyl-pyrrolidin-2-yl)-pyridine
(R)-3-(1-Methyl-2-pyrrolidinyl)pyridine
(R,S)-Nicotine
(R,S)-nicotine
(RS)-nicotine
(S)-(-)-NICOTINE, 3-[(2S)-1-METHYL-2-PYRROLIDINYL] PYRIDINE
(S)-(-)-Nicotine
(S)-3-(1-methylpyrrolidin-2-yl)pyridine
(S)-3-(N-methylpyrrolidin-2-yl)pyridine
(S)-Nicotine
(┬▒)-nicotine
)-1-Methyl-2-(3-pyridyl)pyrrolidine
)-Nicotine
)-Nicotine solution
1-Methyl-2-(3-pyridal)-Pyrrolidine
1-Methyl-2-(3-pyridal)-pyrrolidene
1-Methyl-2-(3-pyridiyl)pyrrolidine
1-Methyl-2-(3-pyridyl)pyrrolidine
1uw6
2'-beta-H-Nicotine
3-(1-Methyl-2-pyrollidinyl)pyridine
3-(1-Methyl-2-pyrrolidinyl)-Pyridine
3-(1-Methyl-2-pyrrolidinyl)pyridine
3-(1-Methylpyrrolidin-2-yl)pyridine
3-(2-(N-methylpyrrolidinyl))pyridine
3-(N-Methylpyrollidino)pyridine
3-(N-Methylpyrrolidino)pyridine
3-N-Methylpyrrolidine
3-[(2S)-1-methylpyrrolidin-2-yl]pyridine
36733_FLUKA
36733_RIEDEL
434F7990-3240-4A43-ACEC-E6CC1E495FA0
46343_FLUKA
46343_RIEDEL
54-11-5
AC1L3I79
AC1Q3ZOC
AI3-03424
American Fare Nicotine Transdermal System
BB_NC-0777
BIDD:GT0599
BRD-K05395900-322-02-1
Black Leaf
Black Leaf 40
C00745
CCRIS 1637
CHEBI:17688
CHEMBL3
CID89594
CPD000059074
Campbell's Nico-Soap
Careone Nicotine Transdermal System Step 1
Careone Nicotine Transdermal System Step 2
Careone Nicotine Transdermal System Step 3
Caswell No. 597
Commit
D-Nicotine
D03365
DL-tetrahydronicotyrine
Destruxol
Destruxol Orchid Spray
EINECS 200-193-3
ENT 3,424
EPA Pesticide Chemical Code 056702
Emo-Nik
Equaline Nicotine Transdermal System STEP 1
Exchange Select Nicotine Transdermal System STEP 3
Flux Maag
Fumeto bac
Fumetobac
HSDB 1107
Habitrol
Habitrol (TN)
Habitrol Patch Nicotine Transdermal System, Step 1
Habitrol Patch Nicotine Transdermal System, Step 2
Habitrol Patch Nicotine Transdermal System, Step 3
Healthmart Nicotine Transdermal System STEP 1
Healthmart Nicotine Transdermal System STEP 2
Healthmart Nicotine Transdermal System STEP 3
Kroger Nicotine Transdermal System STEP 1
Kroger Nicotine Transdermal System STEP 2
Kroger Nicotine Transdermal System STEP 3
L(-)-nicotine
L-3-(1-Methyl-2-pyrrolidyl)pyridine
L-Nicotine
LS-202
Leader Nicotine
Leader Nicotine Transdermal System STEP 1
Leader Nicotine Transdermal System STEP 2
Leader Nicotine Transdermal System STEP 3
MLS001055457
 
MLS001335905
Mach-Nic
Meijer Nicotine Transdermal System STEP 2
Meijer Nicotine Transdermal System Step 1
Meijer Nicotine Transdermal System Step 3
Methyl-2-pyrrolidinyl)pyridine
Micotine
MolPort-000-744-731
N3876_SIGMA
N5511_FLUKA
N5511_SIGMA
NCGC00090693-01
NCGC00090693-02
NCGC00090693-03
NCGC00090693-04
NCGC00090693-05
NCGC00090693-06
NCGC00090693-07
NCT
NICOTINE AND SALTS
NSC 5065
NSC97238
Niagara P.A. Dust
Nic-Sal
Nico-Dust
Nico-Fume
Nicocide
Nicoderm
Nicoderm CQ
Nicoderm Cq
Nicoderm Patch
Nicorette
Nicorette Plus
Nicotin
Nicotina
Nicotina [Italian]
Nicotine
Nicotine (USP)
Nicotine (compounds related to)
Nicotine Alkaloid
Nicotine Patch
Nicotine Polacrilex
Nicotine TRANSDERMAL SYSTEM
Nicotine Transdermal System PATCH KIT
Nicotine Transdermal System STEP 1
Nicotine Transdermal System STEP 2
Nicotine Transdermal System STEP 3
Nicotine Transdermal System Step 1
Nicotine Transdermal System Step 2
Nicotine Transdermal System Step 3
Nicotine [BSI:ISO]
Nicotine [UN1654]
Nicotine [UN1654] [Poison]
Nicotine [USAN]
Nicotine transdermal system
Nicotrol
Nicotrol (professional Sample)
Nicotrol Inhaler
Nicotrol Ns
Nictoine patch
Nikotin
Nikotin [German]
Nikotyna
Nikotyna [Polish]
Ortho N-4 Dust
Ortho N-5 Dust
PDSP1_000113
PDSP1_000465
PDSP2_000463
PDSP2_000555
Prostep
R)-(+)-Nicotine
RCRA waste no. P075
RCRA waste number P075
Rite Aid Nicotine Transdermal System Step 1
Rite Aid Nicotine Transdermal System Step 2
Rite Aid Nicotine Transdermal System Step 3
SAM002564224
SDCCGMLS-0066911.P001
SMR000059074
Safeway Nicotine Transdermal System STEP 1
Safeway Nicotine Transdermal System STEP 2
Safeway Nicotine Transdermal System STEP 3
Smart Sense Nicotine
Sunmark Nicotine
Sunmark Nicotine Transdermal System STEP 1
Sunmark Nicotine Transdermal System STEP 2
Sunmark Nicotine Transdermal System STEP 3
Tendust
Transdermal Nicotine
UN1654
a -N-Methylpyrrolidine
a-N-Methylpyrrolidine
alpha-N-Methylpyrrolidine
beta-Pyridyl-alpha-N-methyl pyrrolidine
beta-Pyridyl-alpha-N-methylpyrrolidine
bmse000105
delta-Nicotine
nicotine
nicotine replacement patch
2Protein C InhibitorPhase 1, Phase 281
3Protein CPhase 1, Phase 282
4Alpha 1-AntitrypsinPhase 1, Phase 283
5serineNutraceuticalPhase 1, Phase 2420

Interventional clinical trials:

idNameStatusNCT IDPhase
1Tobacco Approach Avoidance Training for Adolescent Smokers-1CompletedNCT01625767Phase 2
2Single Dose Administration of Alpha-1 Anti-Trypsin for the Amelioration of Organ Injury in Patients Undergoing Cardiac SurgeryNot yet recruitingNCT02191839Phase 1, Phase 2
3Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic AneurysmRecruitingNCT02256163
4Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
5Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
6Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
7National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165

Search NIH Clinical Center for Familial Thoracic Aortic Aneurysm and Dissection

Genetic Tests for Familial Thoracic Aortic Aneurysm and Dissection

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Anatomical Context for Familial Thoracic Aortic Aneurysm and Dissection

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MalaCards organs/tissues related to Familial Thoracic Aortic Aneurysm and Dissection:

33
Heart

Animal Models for Familial Thoracic Aortic Aneurysm and Dissection or affiliated genes

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MGI Mouse Phenotypes related to Familial Thoracic Aortic Aneurysm and Dissection:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053908.4FBN1, SMAD3, TGFBR1, TGFBR2
2MP:00053698.3FBN1, MYH11, TGFBR1, TGFBR2
3MP:00053808.2FBN1, SMAD3, TGFBR1, TGFBR2
4MP:00053888.0FBN1, MYH11, TGFBR1, TGFBR2
5MP:00107717.8FBN1, MYH11, SMAD3, TGFBR1
6MP:00053857.7FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
7MP:00107687.6FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
8MP:00053787.6FBN1, MYH11, SMAD3, TGFBR1, TGFBR2
9MP:00053767.5FBN1, MYH11, SMAD3, TGFBR1, TGFBR2

Publications for Familial Thoracic Aortic Aneurysm and Dissection

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Articles related to Familial Thoracic Aortic Aneurysm and Dissection:

(show all 11)
idTitleAuthorsYear
1
Aortic rupture after thoracic endovascular repair in a patient with Familial Thoracic Aortic Aneurysm and Dissections type 6 (FTAAD6). (26220220)
2015
2
Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. (24020716)
2015
3
Identification and Surgical Repair of Familial Thoracic Aortic Aneurysm and Dissection Caused by TGFBR1 Mutation. (25110237)
2014
4
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections. (25434006)
2014
5
TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome. (22772371)
2012
6
Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms. (21778426)
2011
7
Familial thoracic aortic aneurysm and dissection associated with Marfan-related gene mutations: case report of a family with two gene mutations. (19336958)
2009
8
Familial thoracic aortic aneurysms and dissections: three families with early-onset ascending and descending aortic dissections in women. (16646045)
2006
9
Mutations in transforming growth factor-beta receptor type II cause familial thoracic aortic aneurysms and dissections. (16027248)
2005
10
Mapping a locus for familial thoracic aortic aneurysms and dissections (TAAD2) to 3p24-25. (12821554)
2003
11
Familial thoracic aortic aneurysms and dissections: genetic heterogeneity with a major locus mapping to 5q13-14. (11369686)
2001

Variations for Familial Thoracic Aortic Aneurysm and Dissection

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Clinvar genetic disease variations for Familial Thoracic Aortic Aneurysm and Dissection:

5
id Gene Variation Type Significance SNP ID Assembly Location
1FBN1NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs)deletionLikely pathogenicrs727503056GRCh37Chr 15, 48760164: 48760207
2TGFBR2NM_003242.5(TGFBR2): c.1591G> A (p.Ala531Thr)single nucleotide variantLikely pathogenicrs727503477GRCh37Chr 3, 30732978: 30732978
3FBN1NM_000138.4(FBN1): c.6886C> T (p.Gln2296Ter)single nucleotide variantLikely pathogenicrs727504410GRCh37Chr 15, 48720654: 48720654

Expression for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Search GEO for disease gene expression data for Familial Thoracic Aortic Aneurysm and Dissection.

Pathways for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Pathways related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

(show all 40)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1TGFBR1, TGFBR2
29.1TGFBR1, TGFBR2
3
Show member pathways
9.1TGFBR1, TGFBR2
49.1TGFBR1, TGFBR2
59.1SMAD3, TGFBR1
69.1SMAD3, TGFBR1
7
Show member pathways
8.7MYH11, TGFBR1, TGFBR2
8
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
9
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
108.6SMAD3, TGFBR1, TGFBR2
11
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
12
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
13
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
14
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
158.6SMAD3, TGFBR1, TGFBR2
168.6SMAD3, TGFBR1, TGFBR2
178.6SMAD3, TGFBR1, TGFBR2
188.6SMAD3, TGFBR1, TGFBR2
198.6SMAD3, TGFBR1, TGFBR2
208.6SMAD3, TGFBR1, TGFBR2
218.6SMAD3, TGFBR1, TGFBR2
228.6SMAD3, TGFBR1, TGFBR2
23
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
248.6SMAD3, TGFBR1, TGFBR2
258.6SMAD3, TGFBR1, TGFBR2
26
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
27
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
28
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
29
TGF-beta signaling pathway (KEGG)
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
30
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
31
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
32
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
338.6SMAD3, TGFBR1, TGFBR2
348.6SMAD3, TGFBR1, TGFBR2
358.6SMAD3, TGFBR1, TGFBR2
36
TGF-beta Signaling Pathway (sino)
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
37
Show member pathways
8.6SMAD3, TGFBR1, TGFBR2
38
Show member pathways
8.2MYH11, SMAD3, TGFBR1, TGFBR2
39
Show member pathways
8.1FBN1, MYH11, TGFBR1, TGFBR2
40
Show member pathways
7.5FBN1, MYH11, SMAD3, TGFBR1, TGFBR2

GO Terms for genes affiliated with Familial Thoracic Aortic Aneurysm and Dissection

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Cellular components related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta receptor homodimeric complexGO:00700229.4TGFBR1, TGFBR2
2receptor complexGO:00432358.6SMAD3, TGFBR1, TGFBR2

Biological processes related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1gastrulationGO:00073699.7SMAD3, TGFBR2
2pathway-restricted SMAD protein phosphorylationGO:00603899.6TGFBR1, TGFBR2
3activin receptor signaling pathwayGO:00329249.6SMAD3, TGFBR1
4signal transduction by protein phosphorylationGO:00230149.6TGFBR1, TGFBR2
5response to cholesterolGO:00707239.6TGFBR1, TGFBR2
6peptidyl-threonine phosphorylationGO:00181079.5TGFBR1, TGFBR2
7cellular response to transforming growth factor beta stimulusGO:00715609.4FBN1, TGFBR1
8lens development in camera-type eyeGO:00020889.4TGFBR1, TGFBR2
9peptidyl-serine phosphorylationGO:00181059.4TGFBR1, TGFBR2
10kidney developmentGO:00018229.2FBN1, TGFBR1
11palate developmentGO:00600219.2TGFBR1, TGFBR2
12negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.0SMAD3, TGFBR1, TGFBR2
13in utero embryonic developmentGO:00017018.9SMAD3, TGFBR1, TGFBR2
14embryonic cranial skeleton morphogenesisGO:00487018.8SMAD3, TGFBR1, TGFBR2
15wound healingGO:00420608.6SMAD3, TGFBR1, TGFBR2
16transforming growth factor beta receptor signaling pathwayGO:00071798.5SMAD3, TGFBR1, TGFBR2
17skeletal system developmentGO:00015018.5FBN1, SMAD3, TGFBR1
18heart developmentGO:00075078.2FBN1, TGFBR1, TGFBR2

Molecular functions related to Familial Thoracic Aortic Aneurysm and Dissection according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:00050249.4TGFBR1, TGFBR2
2transmembrane receptor protein serine/threonine kinase activityGO:00046759.2TGFBR1, TGFBR2
3receptor signaling protein serine/threonine kinase activityGO:00047029.2TGFBR1, TGFBR2
4transforming growth factor beta bindingGO:00504319.0TGFBR1, TGFBR2
5SMAD bindingGO:00463328.6SMAD3, TGFBR1, TGFBR2

Sources for Familial Thoracic Aortic Aneurysm and Dissection

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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