MCID: AMY082
MIFTS: 45

Amyloidosis, Familial Visceral malady

Categories: Genetic diseases, Rare diseases, Nephrological diseases, Bone diseases, Metabolic diseases, Neuronal diseases

Aliases & Classifications for Amyloidosis, Familial Visceral

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Aliases & Descriptions for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 50 66
Hereditary Amyloid Nephropathy 46 52 66
Familial Visceral Amyloidosis 11 13 68
Familial Amyloid Nephropathy 46 52 68
Familial Renal Amyloidosis 46 52 68
Ostertag Type Amyloidosis 11 46 68
German Type Amyloidosis 11 46 68
Hereditary Amyloidosis with Primary Renal Involement 46 52
Amyloidosis, 3 or More Types 50 12
Hereditary Renal Amyloidosis 46 52
Amyloidosis, Ostertag Type 46 52
Amyloidosis Viii 46 68
 
Amyloidosis 8 46 68
Systemic Non-Neuropathic Amyloidosis 68
Amyloidosis, Systemic Nonneuropathic 48
Systemic Nonneuropathic Amyloidosis 11
Amyloidosis Systemic Nonneuropathic 46
Amyloidosis Familial Visceral 46
Amyloidosis, Familial Renal 11
Amyloidosis Familial Renal 46
Amyloidosis, Renal 50
Renal Amyloidosis 48
Amyl8 68

Characteristics:

Orphanet epidemiological data:

52
hereditary amyloid nephropathy:
Inheritance: Autosomal dominant; Age of onset: All ages

HPO:

62
amyloidosis, familial visceral:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 105200
Disease Ontology11 DOID:0050636
Orphanet52 ORPHA85450
ICD10 via Orphanet29 E85.0
MedGen35 C0268389
MeSH37 D028226

Summaries for Amyloidosis, Familial Visceral

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UniProtKB/Swiss-Prot:68 Amyloidosis 8: A hereditary generalized amyloidosis due to deposition of apolipoprotein A1, fibrinogen and lysozyme amyloids. Viscera are particularly affected. There is no involvement of the nervous system. Clinical features include renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash.

MalaCards based summary: Amyloidosis, Familial Visceral, also known as hereditary amyloid nephropathy, is related to apoa1-related familial visceral amyloidosis and fga-related familial visceral amyloidosis, and has symptoms including proteinuria, nephrotic syndrome and nephropathy. An important gene associated with Amyloidosis, Familial Visceral is APOA1 (Apolipoprotein A1), and among its related pathways are Cholesterol and Sphingolipids transport / Recycling to plasma membrane in lung (normal and CF) and Advanced glycosylation endproduct receptor signaling. Affiliated tissues include skin, kidney and bone, and related mouse phenotypes are liver/biliary system and integument.

Wikipedia:69 Familial renal amyloidosis (or familial visceral amyloidosis, or hereditary amyloid nephropathy) is a... more...

Description from OMIM:50 105200

Related Diseases for Amyloidosis, Familial Visceral

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Diseases in the Amyloidosis, Familial Visceral family:

Apoa1-Related Familial Visceral Amyloidosis Fga-Related Familial Visceral Amyloidosis
Lyz-Related Familial Visceral Amyloidosis

Diseases related to Amyloidosis, Familial Visceral via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1apoa1-related familial visceral amyloidosis12.1
2fga-related familial visceral amyloidosis12.1
3lyz-related familial visceral amyloidosis12.1
4muckle-wells syndrome11.2
5adiaspiromycosis10.7LYZ, MEFV
6spasmodic dystonia10.7B2M, FGA
7tyrosinemia, type ii10.7APOA1, APOA2
8lemierre's syndrome10.6LYZ, MEFV
9abnormal threshold of rods10.6B2M, TTR
10lesion of sciatic nerve10.5B2M, TTR
11familial lipoprotein lipase deficiency10.5B2M, TTR
12thrombotic thrombocytopenic purpura10.5B2M, LYZ
13chronic salpingitis10.5B2M, TTR
14lethal congenital contracture syndrome 110.5GSN, TTR
15mesangial proliferative glomerulonephritis10.5B2M, LYZ
16autosomal recessive secondary polycythemia not associated with vhl gene10.5MEFV, TNFRSF1A
17adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency10.5MEFV, TNFRSF1A
18pure mitochondrial myopathy10.4MEFV, TNFRSF1A
19multiple sclerosis 510.4MEFV, TNFRSF1A
20familial cold-induced inflammatory syndrome 110.4MEFV, TNFRSF1A
21blue drum syndrome10.4B2M, LYZ
22bone lymphoma10.4B2M, TTR
23hypervitaminosis d10.3LPA, TTR
24hypotrichosis 610.3B2M, GSN, TTR
25multifocal choroiditis10.3GSN, TTR
26squamous cell papilloma10.3APOA1, GSN, TTR
27porokeratosis 3, disseminated superficial actinic10.3SAA1, TNFRSF1A
28survival motor neuron spinal muscular atrophy10.3APOA1, IAPP, TTR
29plague10.2GSN, SAA1, TTR
30amyloidosis10.2
31alzheimer disease 19, late onset10.2APOA2, LPA
32polyneuropathy10.2APOA1, APOA2, LPA
33pyloric stenosis, infantile hypertrophic, 210.2MEFV, SAA1, TNFRSF1A
34bladder diverticulum10.1APOA1, APOA2, LPA
35inflamed seborrheic keratosis10.1APOA1, APOA2, LPA
36von willebrand disease, platelet-type10.1APOA1, APOA2, LPA
37alopecia-mental retardation syndrome 310.1APOA1, GSN, LYZ, TTR
38apolipoprotein c-iii deficiency10.1APOA1, APOA2, LPA
39obesity, hyperphagia, and developmental delay10.1APOA1, APOA2, LPA
40narcolepsy 610.0APOA1, APOA2, LPA
41immunodeficiency 1910.0APOA1, APOA2, LPA
42rubinstein taybi like syndrome9.9APOA1, LPA
43enteropathy-associated t-cell lymphoma9.9APP, PSEN1
44intravascular angioleiomyoma9.8APP, PSEN1
45mesenteric vascular occlusion9.7APP, SAA1
46fetal erythroblastosis9.7APP, LYZ, TNFRSF1A
47rheumatic disease9.6APP, PSEN1, TTR
48gemistocytic astrocytoma9.6APOA1, APP, PSEN1
49amyoplasia mandibulofacial dysostosis9.6APOA1, APOA2, FGA, GSN, LYZ, TTR
50obesity9.6

Graphical network of the top 20 diseases related to Amyloidosis, Familial Visceral:



Diseases related to amyloidosis, familial visceral

Symptoms for Amyloidosis, Familial Visceral

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Symptoms by clinical synopsis from OMIM:

105200

Clinical features from OMIM:

105200

HPO human phenotypes related to Amyloidosis, Familial Visceral:

(show all 11)
id Description Frequency HPO Source Accession
1 proteinuria HP:0000093
2 nephrotic syndrome HP:0000100
3 nephropathy HP:0000112
4 hematuria HP:0000790
5 hypertension HP:0000822
6 edema HP:0000969
7 skin rash HP:0000988
8 cholestasis HP:0001396
9 splenomegaly HP:0001744
10 hepatomegaly HP:0002240
11 generalized amyloid deposition HP:0003216

Drugs & Therapeutics for Amyloidosis, Familial Visceral

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Drugs for Amyloidosis, Familial Visceral (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Tauroursodeoxycholic acidPhase 21214605-22-212443252
Synonyms:
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl) amino)ethanesulfonic acid
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonate
2-(((3-alpha,5-beta,7-beta)-3,7-Dihydroxy-24-oxocholan-24-yl)amino)-Ethanesulfonic acid
3a,7b-Dihydroxy-5b-cholanoyltaurine
 
N-(3-alpha,7-beta-Dihydroxy-5-beta-cholan-24-oyl)-Taurine
TUDCA
Tauroursodeoxycholate
Tauroursodeoxycholic acid
Tauroursodesoxycholic acid
UR 906
Ursodeoxycholyltaurine
2
DoxycyclinePhase 2232564-25-054671203
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6╬▒-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline

Interventional clinical trials:

idNameStatusNCT IDPhase
1Safety, Efficacy and Pharmacokinetics of Doxycycline Plus Tauroursodeoxycholic Acid in Transthyretin AmyloidosisCompletedNCT01171859Phase 2

Search NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

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Anatomical Context for Amyloidosis, Familial Visceral

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MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

34
Skin, Kidney, Bone

Animal Models for Amyloidosis, Familial Visceral or affiliated genes

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MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053709.1APOA1, B2M, FGA, LYZ, MEFV, TNFRSF1A
2MP:00107717.4APOA1, APP, B2M, FGA, GSN, LYZ
3MP:00053877.0APP, B2M, FGA, GSN, IAPP, LYZ
4MP:00053976.8APP, B2M, FGA, GSN, IAPP, LYZ
5MP:00053765.6APOA1, APOA2, APP, B2M, FGA, GSN

Publications for Amyloidosis, Familial Visceral

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Variations for Amyloidosis, Familial Visceral

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UniProtKB/Swiss-Prot genetic disease variations for Amyloidosis, Familial Visceral:

68
id Symbol AA change Variation ID SNP ID
1APOA1p.Gly50ArgVAR_000609rs28931574
2APOA1p.Leu84ArgVAR_000610rs121912724
3FGAp.Glu545ValVAR_010731rs121909612
4FGAp.Arg573LeuVAR_010732rs78506343
5LYZp.Ile74ThrVAR_004280rs121913547
6LYZp.Asp85HisVAR_004281

Clinvar genetic disease variations for Amyloidosis, Familial Visceral:

5 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1LYZNM_000239.2(LYZ): c.221T> C (p.Ile74Thr)single nucleotide variantPathogenicrs121913547GRCh37Chr 12, 69743972: 69743972
2LYZNM_000239.2(LYZ): c.199G> C (p.Asp67His)single nucleotide variantPathogenicrs387906535GRCh37Chr 12, 69743950: 69743950
3LYZNM_000239.2(LYZ): c.244T> C (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
4LYZNM_000239.2(LYZ): c.223T> A (p.Phe75Ile)single nucleotide variantPathogenicrs121913549GRCh37Chr 12, 69743974: 69743974
5LYZNM_000239.2(LYZ): c.244T> A (p.Trp82Arg)single nucleotide variantPathogenicrs387906536GRCh37Chr 12, 69743995: 69743995
6FGANM_000508.4(FGA): c.1718G> T (p.Arg573Leu)single nucleotide variantPathogenicrs78506343GRCh37Chr 4, 155506863: 155506863
7FGANM_000508.4(FGA): c.1622delT (p.Val541Alafs)deletionPathogenicrs587777761GRCh38Chr 4, 154585807: 154585807
8FGANM_000508.4(FGA): c.1634A> T (p.Glu545Val)single nucleotide variantPathogenicrs121909612GRCh37Chr 4, 155506947: 155506947
9FGANM_000508.4(FGA): c.1629delG (p.Thr544Leufs)deletionPathogenicrs587777762GRCh37Chr 4, 155506952: 155506952
10NM_000039.2(APOA1): c.251T> G (p.Leu84Arg)single nucleotide variantPathogenicrs121912724GRCh37Chr 11, 116707077: 116707077
11APOA1APOA1, 12-BP DEL AND 2-BP INSindelPathogenic
12NM_000039.2(APOA1): c.220T> C (p.Trp74Arg)single nucleotide variantPathogenicrs121912726GRCh37Chr 11, 116707108: 116707108
13APOA1NM_000039.2(APOA1): c.593T> C (p.Leu198Ser)single nucleotide variantPathogenicrs121912729GRCh37Chr 11, 116706735: 116706735
14APOA1NM_000039.2(APOA1): c.595G> C (p.Ala199Pro)single nucleotide variantPathogenicrs121912730GRCh37Chr 11, 116706733: 116706733
15B2MNM_004048.2(B2M): c.286G> A (p.Asp96Asn)single nucleotide variantPathogenicrs398122820GRCh37Chr 15, 45007839: 45007839

Expression for genes affiliated with Amyloidosis, Familial Visceral

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Search GEO for disease gene expression data for Amyloidosis, Familial Visceral.

Pathways for genes affiliated with Amyloidosis, Familial Visceral

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Pathways related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
110.0APOA1, APOA2
29.3APP, SAA1
3
Show member pathways
9.2APOA1, SAA1, SAA2, SAA4
4
Show member pathways
9.2APOA1, SAA1, SAA2, SAA4
59.1APP, PSEN1
68.6APP, PSEN1, TNFRSF1A
7
Show member pathways
7.2APOA1, APP, B2M, FGA, GSN, IAPP
8
Show member pathways
7.2APOA1, APP, B2M, FGA, GSN, IAPP

GO Terms for genes affiliated with Amyloidosis, Familial Visceral

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Cellular components related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1chylomicronGO:004262710.7APOA1, APOA2
2very-low-density lipoprotein particleGO:003436110.7APOA1, APOA2
3endocytic vesicle lumenGO:007168210.6APOA1, SAA1
4spherical high-density lipoprotein particleGO:003436610.6APOA1, APOA2
5ciliary rootletGO:00352539.8APP, PSEN1
6high-density lipoprotein particleGO:00343649.6APOA1, APOA2, SAA1, SAA2, SAA4
7blood microparticleGO:00725629.6APOA1, APOA2, FGA, GSN
8smooth endoplasmic reticulumGO:00057909.6APP, PSEN1
9rough endoplasmic reticulumGO:00057919.5APP, FGA, PSEN1
10cytoplasmic vesicleGO:00314108.6APOA1, APP, MEFV, PSEN1
11cell surfaceGO:00099868.3APOA1, APP, FGA, PSEN1, TNFRSF1A
12extracellular exosomeGO:00700626.4APOA1, APOA2, APP, B2M, FGA, GSN
13extracellular spaceGO:00056155.6APOA1, APOA2, APP, B2M, FGA, GSN
14extracellular regionGO:00055765.4APOA1, APOA2, APP, B2M, FGA, GSN

Biological processes related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1protein oxidationGO:001815810.6APOA1, APOA2
2peptidyl-methionine modificationGO:001820610.6APOA1, APOA2
3negative regulation of lipase activityGO:006019210.6APOA1, APOA2
4regulation of intestinal cholesterol absorptionGO:003030010.6APOA1, APOA2
5negative regulation of very-low-density lipoprotein particle remodelingGO:001090310.6APOA1, APOA2
6positive regulation of cholesterol esterificationGO:001087310.6APOA1, APOA2
7phospholipid effluxGO:003370010.6APOA1, APOA2
8lipoprotein biosynthetic processGO:004215810.6APOA1, APOA2
9high-density lipoprotein particle clearanceGO:003438410.6APOA1, APOA2
10high-density lipoprotein particle assemblyGO:003438010.6APOA1, APOA2
11negative regulation of cytokine secretion involved in immune responseGO:000274010.6APOA1, APOA2
12cholesterol effluxGO:003334410.5APOA1, APOA2
13high-density lipoprotein particle remodelingGO:003437510.5APOA1, APOA2
14cholesterol transportGO:003030110.5APOA1, APOA2
15phosphatidylcholine biosynthetic processGO:000665610.5APOA1, APOA2
16reverse cholesterol transportGO:004369110.5APOA1, APOA2
17positive chemotaxisGO:00509189.9SAA1, SAA2, SAA4
18lipoprotein metabolic processGO:00421579.8APOA1, APOA2, LPA
19amyloid fibril formationGO:19900009.8APP, GSN
20smooth endoplasmic reticulum calcium ion homeostasisGO:00515639.7APP, PSEN1
21regulation of epidermal growth factor-activated receptor activityGO:00071769.7APP, PSEN1
22regulation of protein bindingGO:00433939.7APP, PSEN1
23acute-phase responseGO:00069539.7FGA, SAA1, SAA2, SAA4
24retinoid metabolic processGO:00015239.7APOA1, APOA2, TTR
25platelet degranulationGO:00025769.7APOA1, APP, FGA
26negative regulation of inflammatory responseGO:00507289.6APOA1, MEFV, SAA1, TNFRSF1A
27cholesterol metabolic processGO:00082039.2APOA1, APOA2, APP
28innate immune responseGO:00450878.5APP, B2M, FGA, SAA1
29cellular protein metabolic processGO:00442676.7APOA1, APP, B2M, FGA, GSN, IAPP

Molecular functions related to Amyloidosis, Familial Visceral according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1apolipoprotein receptor bindingGO:003419010.6APOA1, APOA2
2high-density lipoprotein particle receptor bindingGO:007065310.6APOA1, APOA2
3lipase inhibitor activityGO:005510210.6APOA1, APOA2
4phosphatidylcholine-sterol O-acyltransferase activator activityGO:006022810.6APOA1, APOA2
5high-density lipoprotein particle bindingGO:000803510.5APOA1, APOA2
6lipid transporter activityGO:000531910.5APOA1, APOA2
7cholesterol transporter activityGO:001712710.5APOA1, APOA2
8phosphatidylcholine bindingGO:003121010.5APOA1, APOA2
9chemoattractant activityGO:00420569.8SAA1, SAA2, SAA4
10identical protein bindingGO:00428028.2APOA1, APP, B2M, IAPP, LYZ, TTR

Sources for Amyloidosis, Familial Visceral

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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