AMYL8
MCID: AMY082
MIFTS: 47

Amyloidosis, Familial Visceral (AMYL8)

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

Aliases & Classifications for Amyloidosis, Familial Visceral

MalaCards integrated aliases for Amyloidosis, Familial Visceral:

Name: Amyloidosis, Familial Visceral 58 74
Ostertag Type Amyloidosis 58 12 54 76
German Type Amyloidosis 58 12 54 76
Hereditary Amyloid Nephropathy 54 60 74
Familial Visceral Amyloidosis 12 76 15
Familial Amyloid Nephropathy 54 60 76
Familial Renal Amyloidosis 54 60 76
Amyloidosis Viii 58 54 76
Hereditary Amyloidosis with Primary Renal Involvement 54 60
Amyloidosis, Systemic Nonneuropathic 58 56
Amyloidosis, 3 or More Types 58 13
Hereditary Renal Amyloidosis 54 60
Amyloidosis, Familial Renal 58 12
Amyloidosis, Ostertag Type 54 60
Amyloidosis 8 54 76
Hereditary Amyloidosis with Primary Renal Involement 54
Systemic Non-Neuropathic Amyloidosis 76
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 54
Amyloidosis Familial Visceral 54
Amyloidosis Familial Renal 54
Amyloid Nephropathy 74
Amyloidosis, Renal 58
Renal Amyloidosis 56
Amyl8 76

Characteristics:

Orphanet epidemiological data:

60
hereditary amyloidosis with primary renal involvement
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Familial Visceral

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 85450Disease definitionA group of rare renal diseases, characterized by amyloid fibril deposition of apolipoprotein A-I or A-II (AApoAI or AApoAII amyloidosis), lysozyme (ALys amyloidosis) or fibrinogen A-alpha chain (AFib amyloidosis) in one or several organs. Renal involvement leading to chronic renal disease and renal failure is a common sign. Additional manifestations depend on the organ involved and the type of amyloid fibrils deposited.Visit the Orphanet disease page for more resources.

MalaCards based summary : Amyloidosis, Familial Visceral, also known as ostertag type amyloidosis, is related to brucellosis and al amyloidosis. An important gene associated with Amyloidosis, Familial Visceral is B2M (Beta-2-Microglobulin), and among its related pathways/superpathways are Metabolism of proteins and Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3. Affiliated tissues include skin, kidney and bone, and related phenotypes are hypertension and splenomegaly

Disease Ontology : 12 An amyloidosis that is characterized by the abdnormal deposition of amyloid proteins that is located in the visceral organs, primarily the kidneys.

UniProtKB/Swiss-Prot : 76 Amyloidosis 8: A form of hereditary generalized amyloidosis. Clinical features include extensive visceral amyloid deposits, renal amyloidosis resulting in nephrotic syndrome, arterial hypertension, hepatosplenomegaly, cholestasis, petechial skin rash. There is no involvement of the nervous system.

Description from OMIM: 105200

Related Diseases for Amyloidosis, Familial Visceral

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

(show top 50) (show all 140)
# Related Disease Score Top Affiliating Genes
1 brucellosis 30.0 MEFV SAA1
2 al amyloidosis 29.9 B2M LYZ TTR
3 amyloidosis, hereditary, transthyretin-related 29.6 APOA1 GSN TTR
4 familial mediterranean fever 28.6 MEFV SAA1 SAA2 SAA4
5 amyloidosis aa 28.5 APOA1 B2M MEFV SAA1 SAA2 SAA4
6 amyloidosis 27.6 APOA1 B2M FGA GSN LYZ MEFV
7 muckle-wells syndrome 11.5
8 aapoaii amyloidosis 11.3
9 afib amyloidosis 11.3
10 aapoai amyloidosis 11.3
11 familial cold autoinflammatory syndrome 1 11.2
12 familial mediterranean fever, autosomal dominant 11.1
13 diffuse glomerulonephritis 10.3 B2M LYZ
14 familial lcat deficiency 10.3 APOA1 APOA2
15 fish-eye disease 10.3 APOA1 APOA2
16 leukodystrophy, hypomyelinating, 3 10.3 APOA1 APOA2
17 oculogyric crisis 10.3 B2M FGA
18 tibial neuropathy 10.3 B2M TTR
19 tarsal tunnel syndrome 10.3 B2M TTR
20 median rhomboid glossitis 10.3 B2M TTR
21 hyperlipidemia, familial combined 10.3 APOA1 APOA2
22 arthritis 10.2
23 pyelitis 10.2 B2M LYZ
24 erysipeloid 10.2 LYZ MEFV
25 amyloid tumor 10.2 B2M TTR
26 renal tuberculosis 10.2 B2M LYZ
27 nerve compression syndrome 10.2 B2M TTR
28 periodic fever, familial, autosomal dominant 10.2 LYZ MEFV
29 hypolipoproteinemia 10.2 APOA1 APOA2
30 rheumatoid arthritis 10.2
31 glomerulonephritis 10.2
32 hypoalphalipoproteinemia, primary 10.2 APOA1 APOA2
33 angina pectoris 10.2 APOA2 FGA
34 arcus corneae 10.2 APOA1 APOA2
35 amyloidosis, finnish type 10.1 GSN TTR
36 retinitis pigmentosa 7 10.1 B2M LYZ TTR
37 testicular yolk sac tumor 10.1 APOA1 TTR
38 hyperalphalipoproteinemia 1 10.1 APOA1 APOA2
39 pediatric multiple sclerosis 10.1 GSN TTR
40 juvenile rheumatoid arthritis 10.1
41 bardet-biedl syndrome 2 10.0 APOA1 LYZ
42 crescentic glomerulonephritis 10.0
43 castleman disease 10.0
44 polyneuropathy 10.0 APOA1 GSN TTR
45 crohn's disease 9.9
46 epidermolysis bullosa 9.9
47 rapidly progressive glomerulonephritis 9.9
48 blepharochalasis 9.9 GSN SAA1 TTR
49 peripheral nervous system disease 9.8
50 neuropathy 9.8

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



Diseases related to Amyloidosis, Familial Visceral

Symptoms & Phenotypes for Amyloidosis, Familial Visceral

Human phenotypes related to Amyloidosis, Familial Visceral:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 splenomegaly 33 HP:0001744
3 hepatomegaly 33 HP:0002240
4 proteinuria 33 HP:0000093
5 nephropathy 33 HP:0000112
6 edema 33 HP:0000969
7 nephrotic syndrome 33 HP:0000100
8 hematuria 33 HP:0000790
9 cholestasis 33 HP:0001396
10 skin rash 33 HP:0000988
11 generalized amyloid deposition 33 HP:0003216

Symptoms via clinical synopsis from OMIM:

58
Endocrine:
hypertension

Lab:
proteinuria
hematuria
generalized amyloid deposition

Skin:
pitting edema
petechial skin rash

Misc:
chronic weakness

G I:
splenomegaly
hepatomegaly
cholestasis

G U:
nephrotic syndrome
nephropathy with hematuria
uremia

Neuro:
nonneuropathic

Clinical features from OMIM:

105200

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.85 APOA1 APOA2 B2M FGA GSN LECT2
2 integument MP:0010771 9.43 APOA1 B2M FGA GSN LYZ MEFV
3 liver/biliary system MP:0005370 9.1 APOA1 B2M FGA LECT2 LYZ MEFV

Drugs & Therapeutics for Amyloidosis, Familial Visceral

Search Clinical Trials , NIH Clinical Center for Amyloidosis, Familial Visceral

Genetic Tests for Amyloidosis, Familial Visceral

Anatomical Context for Amyloidosis, Familial Visceral

MalaCards organs/tissues related to Amyloidosis, Familial Visceral:

42
Skin, Kidney, Bone

The Foundational Model of Anatomy Ontology organs/tissues related to Amyloidosis, Familial Visceral:

20
The Visceral Organs

Publications for Amyloidosis, Familial Visceral

Articles related to Amyloidosis, Familial Visceral:

# Title Authors Year
1
The first pure form of Ostertag-type amyloidosis in Japan: a sporadic case of hereditary fibrinogen Aα-chain amyloidosis associated with a novel frameshift variant. ( 26017329 )
2015

Variations for Amyloidosis, Familial Visceral

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

76
# Symbol AA change Variation ID SNP ID
1 APOA1 p.Gly50Arg VAR_000609 rs28931574
2 APOA1 p.Leu84Arg VAR_000610 rs121912724
3 B2M p.Asp96Asn VAR_076691 rs398122820
4 FGA p.Glu545Val VAR_010731 rs121909612
5 FGA p.Arg573Leu VAR_010732 rs78506343
6 LYZ p.Ile74Thr VAR_004280 rs121913547
7 LYZ p.Asp85His VAR_004281 rs121913548

ClinVar genetic disease variations for Amyloidosis, Familial Visceral:

6 (show top 50) (show all 147)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGA NM_000508.4(FGA): c.1718G> T (p.Arg573Leu) single nucleotide variant Pathogenic rs78506343 GRCh37 Chromosome 4, 155506863: 155506863
2 FGA NM_000508.4(FGA): c.1718G> T (p.Arg573Leu) single nucleotide variant Pathogenic rs78506343 GRCh38 Chromosome 4, 154585711: 154585711
3 FGA NM_000508.4(FGA): c.1622delT (p.Val541Alafs) deletion Pathogenic rs587777761 GRCh38 Chromosome 4, 154585807: 154585807
4 FGA NM_000508.4(FGA): c.1622delT (p.Val541Alafs) deletion Pathogenic rs587777761 GRCh37 Chromosome 4, 155506959: 155506959
5 FGA NM_000508.4(FGA): c.1634A> T (p.Glu545Val) single nucleotide variant Pathogenic rs121909612 GRCh37 Chromosome 4, 155506947: 155506947
6 FGA NM_000508.4(FGA): c.1634A> T (p.Glu545Val) single nucleotide variant Pathogenic rs121909612 GRCh38 Chromosome 4, 154585795: 154585795
7 FGA NM_000508.4(FGA): c.1629delG (p.Thr544Leufs) deletion Pathogenic rs587777762 GRCh37 Chromosome 4, 155506952: 155506952
8 FGA NM_000508.4(FGA): c.1629delG (p.Thr544Leufs) deletion Pathogenic rs587777762 GRCh38 Chromosome 4, 154585800: 154585800
9 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh37 Chromosome 4, 155507590: 155507590
10 FGA NM_000508.4(FGA): c.991A> G (p.Thr331Ala) single nucleotide variant Benign rs6050 GRCh38 Chromosome 4, 154586438: 154586438
11 LYZ NM_000239.2(LYZ): c.*442T> G single nucleotide variant Uncertain significance rs886049807 GRCh38 Chromosome 12, 69353661: 69353661
12 LYZ NM_000239.2(LYZ): c.*442T> G single nucleotide variant Uncertain significance rs886049807 GRCh37 Chromosome 12, 69747441: 69747441
13 LYZ NM_000239.2(LYZ): c.*331G> A single nucleotide variant Uncertain significance rs762377090 GRCh38 Chromosome 12, 69353550: 69353550
14 LYZ NM_000239.2(LYZ): c.*331G> A single nucleotide variant Uncertain significance rs762377090 GRCh37 Chromosome 12, 69747330: 69747330
15 LYZ NM_000239.2(LYZ): c.*178C> T single nucleotide variant Benign rs710794 GRCh38 Chromosome 12, 69353397: 69353397
16 LYZ NM_000239.2(LYZ): c.*178C> T single nucleotide variant Benign rs710794 GRCh37 Chromosome 12, 69747177: 69747177
17 LYZ NM_000239.2(LYZ): c.*169G> A single nucleotide variant Likely benign rs568058282 GRCh38 Chromosome 12, 69353388: 69353388
18 LYZ NM_000239.2(LYZ): c.*169G> A single nucleotide variant Likely benign rs568058282 GRCh37 Chromosome 12, 69747168: 69747168
19 LYZ NM_000239.2(LYZ): c.-1C> T single nucleotide variant Benign rs513342 GRCh37 Chromosome 12, 69742188: 69742188
20 LYZ NM_000239.2(LYZ): c.-1C> T single nucleotide variant Benign rs513342 GRCh38 Chromosome 12, 69348408: 69348408
21 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh38 Chromosome 11, 116837398: 116837398
22 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh37 Chromosome 11, 116708114: 116708114
23 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh38 Chromosome 11, 116837379: 116837379
24 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh37 Chromosome 11, 116708095: 116708095
25 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh38 Chromosome 11, 116837033: 116837033
26 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh37 Chromosome 11, 116707749: 116707749
27 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh38 Chromosome 11, 116836158: 116836158
28 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh37 Chromosome 11, 116706874: 116706874
29 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh38 Chromosome 11, 116836132: 116836132
30 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh37 Chromosome 11, 116706848: 116706848
31 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh37 Chromosome 4, 155507965: 155507965
32 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh38 Chromosome 4, 154586813: 154586813
33 B2M NM_004048.3(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh38 Chromosome 15, 44715641: 44715641
34 B2M NM_004048.3(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh37 Chromosome 15, 45007839: 45007839
35 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 GRCh38 Chromosome 11, 116836017: 116836017
36 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 GRCh37 Chromosome 11, 116706733: 116706733
37 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 GRCh38 Chromosome 11, 116836019: 116836019
38 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 GRCh37 Chromosome 11, 116706735: 116706735
39 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 GRCh38 Chromosome 11, 116836392: 116836392
40 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 GRCh37 Chromosome 11, 116707108: 116707108
41 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 GRCh38 Chromosome 11, 116836361: 116836361
42 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 GRCh37 Chromosome 11, 116707077: 116707077
43 APOA1 APOA1, 12-BP DEL AND 2-BP INS indel Pathogenic
44 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh38 Chromosome 12, 69350215: 69350215
45 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
46 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh38 Chromosome 12, 69350194: 69350194
47 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh37 Chromosome 12, 69743974: 69743974
48 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh38 Chromosome 12, 69350215: 69350215
49 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
50 LYZ NM_000239.2(LYZ): c.199G> C (p.Asp67His) single nucleotide variant Pathogenic rs387906535 GRCh38 Chromosome 12, 69350170: 69350170

Expression for Amyloidosis, Familial Visceral

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

Pathways for Amyloidosis, Familial Visceral

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.23 APOA1 B2M FGA GSN LYZ SAA1
2
Show member pathways
13.12 APOA1 B2M FGA GSN LYZ SAA1
3
Show member pathways
11.87 APOA1 APOA2 TTR
4
Show member pathways
11.26 APOA1 SAA1 SAA2 SAA4
5 11.05 APOA1 TTR
6 10.74 APOA1 APOA2
7 10.23 APOA1 APOA2

GO Terms for Amyloidosis, Familial Visceral

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.96 APOA1 APOA2 B2M FGA GSN LECT2
2 extracellular exosome GO:0070062 9.85 APOA1 APOA2 B2M FGA GSN LYZ
3 endoplasmic reticulum lumen GO:0005788 9.71 APOA1 APOA2 B2M FGA
4 extracellular space GO:0005615 9.7 APOA1 APOA2 B2M FGA GSN LECT2
5 blood microparticle GO:0072562 9.62 APOA1 APOA2 FGA GSN
6 very-low-density lipoprotein particle GO:0034361 9.48 APOA1 APOA2
7 endocytic vesicle lumen GO:0071682 9.46 APOA1 SAA1
8 chylomicron GO:0042627 9.43 APOA1 APOA2
9 spherical high-density lipoprotein particle GO:0034366 9.37 APOA1 APOA2
10 high-density lipoprotein particle GO:0034364 9.02 APOA1 APOA2 SAA1 SAA2 SAA4

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

(show all 29)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.92 B2M FGA MEFV SAA1
2 neutrophil degranulation GO:0043312 9.9 B2M GSN LYZ TTR
3 negative regulation of inflammatory response GO:0050728 9.73 APOA1 MEFV SAA1
4 cell chemotaxis GO:0060326 9.7 SAA1 SAA2 SAA4
5 animal organ regeneration GO:0031100 9.64 APOA1 APOA2
6 retina homeostasis GO:0001895 9.64 B2M LYZ
7 positive regulation of substrate adhesion-dependent cell spreading GO:1900026 9.63 APOA1 FGA
8 phosphatidylcholine biosynthetic process GO:0006656 9.63 APOA1 APOA2
9 cholesterol transport GO:0030301 9.62 APOA1 APOA2
10 cholesterol efflux GO:0033344 9.61 APOA1 APOA2
11 lipoprotein metabolic process GO:0042157 9.61 APOA1 APOA2
12 reverse cholesterol transport GO:0043691 9.59 APOA1 APOA2
13 high-density lipoprotein particle remodeling GO:0034375 9.58 APOA1 APOA2
14 high-density lipoprotein particle assembly GO:0034380 9.58 APOA1 APOA2
15 retinoid metabolic process GO:0001523 9.58 APOA1 APOA2 TTR
16 phospholipid efflux GO:0033700 9.57 APOA1 APOA2
17 chylomicron assembly GO:0034378 9.55 APOA1 APOA2
18 high-density lipoprotein particle clearance GO:0034384 9.54 APOA1 APOA2
19 positive regulation of cholesterol esterification GO:0010873 9.51 APOA1 APOA2
20 chylomicron remodeling GO:0034371 9.49 APOA1 APOA2
21 negative regulation of cytokine secretion involved in immune response GO:0002740 9.48 APOA1 APOA2
22 peptidyl-methionine modification GO:0018206 9.46 APOA1 APOA2
23 regulation of intestinal cholesterol absorption GO:0030300 9.43 APOA1 APOA2
24 positive chemotaxis GO:0050918 9.43 SAA1 SAA2 SAA4
25 negative regulation of lipase activity GO:0060192 9.37 APOA1 APOA2
26 protein oxidation GO:0018158 9.32 APOA1 APOA2
27 cellular protein metabolic process GO:0044267 9.23 APOA1 APOA2 B2M FGA GSN LYZ
28 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.16 APOA1 APOA2
29 acute-phase response GO:0006953 9.13 SAA1 SAA2 SAA4

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

# Name GO ID Score Top Affiliating Genes
1 identical protein binding GO:0042802 9.85 APOA1 B2M LECT2 LYZ MEFV TTR
2 cholesterol binding GO:0015485 9.48 APOA1 APOA2
3 lipid transporter activity GO:0005319 9.46 APOA1 APOA2
4 cholesterol transporter activity GO:0017127 9.43 APOA1 APOA2
5 high-density lipoprotein particle binding GO:0008035 9.4 APOA1 APOA2
6 lipase inhibitor activity GO:0055102 9.32 APOA1 APOA2
7 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2
8 apolipoprotein receptor binding GO:0034190 9.16 APOA1 APOA2
9 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA1 APOA2
10 chemoattractant activity GO:0042056 8.8 SAA1 SAA2 SAA4

Sources for Amyloidosis, Familial Visceral

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
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34 ICD10
35 ICD10 via Orphanet
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45 MeSH
46 MESH via Orphanet
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50 NCI
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58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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