AMYL8
MCID: AMY082
MIFTS: 50

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 57 73
Ostertag Type Amyloidosis 57 12 53 75
German Type Amyloidosis 57 12 53 75
Hereditary Amyloid Nephropathy 53 59 73
Familial Visceral Amyloidosis 12 75 15
Familial Amyloid Nephropathy 53 59 75
Familial Renal Amyloidosis 53 59 75
Amyloidosis Viii 57 53 75
Hereditary Amyloidosis with Primary Renal Involement 53 59
Amyloidosis, Systemic Nonneuropathic 57 55
Amyloidosis, 3 or More Types 57 13
Hereditary Renal Amyloidosis 53 59
Amyloidosis, Familial Renal 57 12
Amyloidosis, Ostertag Type 53 59
Amyloidosis 8 53 75
Systemic Non-Neuropathic Amyloidosis 75
Systemic Nonneuropathic Amyloidosis 12
Amyloidosis Systemic Nonneuropathic 53
Amyloidosis Familial Visceral 53
Amyloidosis Familial Renal 53
Amyloid Nephropathy 73
Amyloidosis, Renal 57
Renal Amyloidosis 55
Amyl8 75

Characteristics:

Orphanet epidemiological data:

59
hereditary amyloidosis with primary renal involement
Inheritance: Autosomal dominant; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
amyloidosis, familial visceral:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Amyloidosis, Familial Visceral

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Amyloidosis, Familial Visceral, also known as ostertag type amyloidosis, is related to familial cold autoinflammatory syndrome 1 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.

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 139)
# Related Disease Score Top Affiliating Genes
1 familial cold autoinflammatory syndrome 1 32.0 TNFRSF1A MEFV
2 al amyloidosis 30.0 TTR LYZ B2M
3 amyloidosis, hereditary, transthyretin-related 29.7 TTR GSN APOA1
4 hyper-igd syndrome 29.6 TNFRSF1A SAA1
5 amyloidosis aa 29.4 TTR SAA4 SAA2 SAA1 MEFV LPA
6 chronic kidney failure 29.3 TTR LPA B2M
7 familial mediterranean fever 29.2 TNFRSF1A SAA4 SAA2 SAA1 MEFV
8 amyloidosis 28.4 TTR TNFRSF1A SAA4 SAA2 SAA1 PSEN1
9 muckle-wells syndrome 11.5
10 aapoaii amyloidosis 11.3
11 afib amyloidosis 11.3
12 aapoai amyloidosis 11.3
13 familial mediterranean fever, autosomal dominant 11.1
14 familial lcat deficiency 10.2 APOA2 APOA1
15 diffuse glomerulonephritis 10.2 LYZ B2M
16 tarsal tunnel syndrome 10.2 TTR B2M
17 tibial neuropathy 10.2 TTR B2M
18 median rhomboid glossitis 10.2 B2M TTR
19 erysipeloid 10.2 MEFV LYZ
20 fish-eye disease 10.2 APOA2 APOA1
21 amyloid tumor 10.2 TTR B2M
22 nerve compression syndrome 10.2 TTR B2M
23 oculogyric crisis 10.2 FGA B2M
24 arthritis 10.2
25 retinitis pigmentosa 7 10.2 TTR LYZ B2M
26 pyelitis 10.2 LYZ B2M
27 amyloidosis, finnish type 10.2 TTR GSN
28 intermittent hydrarthrosis 10.2 TNFRSF1A MEFV
29 inflammatory myopathy with abundant macrophages 10.1 TNFRSF1A MEFV
30 glomerulonephritis 10.1
31 idiopathic recurrent pericarditis 10.1 TNFRSF1A MEFV
32 pediatric multiple sclerosis 10.1 TTR GSN
33 rheumatoid arthritis 10.1
34 carotenemia 10.1 TTR LPA
35 nephrotic syndrome 10.1
36 renal tuberculosis 10.1 LYZ B2M
37 relapsing fever 10.1 TNFRSF1A MEFV
38 polyneuropathy 10.1 TTR GSN APOA1
39 blepharochalasis 10.1 TTR SAA1 GSN
40 periodic fever, familial, autosomal dominant 10.1 TNFRSF1A MEFV LYZ
41 acquired metabolic disease 10.1 TTR IAPP APOA1
42 lipoprotein glomerulopathy 10.1 LPA APOA2
43 immunodeficiency 43 10.0 FCGRT B2M
44 leukodystrophy, hypomyelinating, 3 10.0 LPA APOA2 APOA1
45 hyperlipidemia, familial combined 10.0 LPA APOA2 APOA1
46 hypolipoproteinemia 10.0 LPA APOA2 APOA1
47 arcus corneae 10.0 LPA APOA2 APOA1
48 lecithin:cholesterol acyltransferase deficiency 10.0 LPA APOA2 APOA1
49 tangier disease 10.0 LPA APOA2 APOA1
50 crescentic glomerulonephritis 10.0

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



Diseases related to Amyloidosis, Familial Visceral

Symptoms & Phenotypes for Amyloidosis, Familial Visceral

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Amyloidosis, Familial Visceral:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 splenomegaly 32 HP:0001744
3 hepatomegaly 32 HP:0002240
4 proteinuria 32 HP:0000093
5 nephropathy 32 HP:0000112
6 edema 32 HP:0000969
7 nephrotic syndrome 32 HP:0000100
8 hematuria 32 HP:0000790
9 cholestasis 32 HP:0001396
10 skin rash 32 HP:0000988
11 generalized amyloid deposition 32 HP:0003216

MGI Mouse Phenotypes related to Amyloidosis, Familial Visceral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.07 APOA1 APOA2 B2M FCGRT FGA GSN
2 cardiovascular system MP:0005385 10.01 APOA1 B2M FGA GSN LYZ PSEN1
3 hematopoietic system MP:0005397 9.97 B2M FCGRT FGA GSN IAPP LYZ
4 digestive/alimentary MP:0005381 9.85 B2M FGA LYZ PSEN1 TNFRSF1A TTR
5 immune system MP:0005387 9.81 B2M FCGRT FGA GSN IAPP LYZ
6 integument MP:0010771 9.56 APOA1 B2M FGA GSN LYZ MEFV
7 liver/biliary system MP:0005370 9.1 APOA1 B2M FGA LYZ MEFV TNFRSF1A

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:

41
Skin, Kidney, Bone, Heart, Eye, B Cells

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

19
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:

75
# 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 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 GRCh37 Chromosome 11, 116707077: 116707077
12 APOA1 NM_000039.2(APOA1): c.251T> G (p.Leu84Arg) single nucleotide variant Pathogenic rs121912724 GRCh38 Chromosome 11, 116836361: 116836361
13 APOA1 APOA1, 12-BP DEL AND 2-BP INS indel Pathogenic
14 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 GRCh37 Chromosome 11, 116707108: 116707108
15 APOA1 NM_000039.2(APOA1): c.220T> C (p.Trp74Arg) single nucleotide variant Pathogenic rs121912726 GRCh38 Chromosome 11, 116836392: 116836392
16 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 GRCh37 Chromosome 11, 116706735: 116706735
17 APOA1 NM_000039.2(APOA1): c.593T> C (p.Leu198Ser) single nucleotide variant Pathogenic rs121912729 GRCh38 Chromosome 11, 116836019: 116836019
18 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 GRCh37 Chromosome 11, 116706733: 116706733
19 APOA1 NM_000039.2(APOA1): c.595G> C (p.Ala199Pro) single nucleotide variant Pathogenic rs121912730 GRCh38 Chromosome 11, 116836017: 116836017
20 LYZ NM_000239.2(LYZ): c.*890T> C single nucleotide variant Likely benign rs188271229 GRCh37 Chromosome 12, 69747889: 69747889
21 LYZ NM_000239.2(LYZ): c.*890T> C single nucleotide variant Likely benign rs188271229 GRCh38 Chromosome 12, 69354109: 69354109
22 LYZ NM_000239.2(LYZ): c.*814C> A single nucleotide variant Uncertain significance rs886049810 GRCh37 Chromosome 12, 69747813: 69747813
23 LYZ NM_000239.2(LYZ): c.*814C> A single nucleotide variant Uncertain significance rs886049810 GRCh38 Chromosome 12, 69354033: 69354033
24 LYZ NM_000239.2(LYZ): c.*655G> T single nucleotide variant Benign rs8612 GRCh38 Chromosome 12, 69353874: 69353874
25 LYZ NM_000239.2(LYZ): c.*655G> T single nucleotide variant Benign rs8612 GRCh37 Chromosome 12, 69747654: 69747654
26 LYZ NM_000239.2(LYZ): c.*418C> A single nucleotide variant Likely benign rs534565279 GRCh38 Chromosome 12, 69353637: 69353637
27 LYZ NM_000239.2(LYZ): c.*418C> A single nucleotide variant Likely benign rs534565279 GRCh37 Chromosome 12, 69747417: 69747417
28 LYZ NM_000239.2(LYZ): c.*415G> A single nucleotide variant Likely benign rs183441118 GRCh38 Chromosome 12, 69353634: 69353634
29 LYZ NM_000239.2(LYZ): c.*415G> A single nucleotide variant Likely benign rs183441118 GRCh37 Chromosome 12, 69747414: 69747414
30 LYZ NM_000239.2(LYZ): c.*330C> T single nucleotide variant Uncertain significance rs886049805 GRCh38 Chromosome 12, 69353549: 69353549
31 LYZ NM_000239.2(LYZ): c.*330C> T single nucleotide variant Uncertain significance rs886049805 GRCh37 Chromosome 12, 69747329: 69747329
32 LYZ NM_000239.2(LYZ): c.*280_*289dupTTTTTTTTTT duplication Uncertain significance rs71094709 GRCh38 Chromosome 12, 69353499: 69353508
33 LYZ NM_000239.2(LYZ): c.*280_*289dupTTTTTTTTTT duplication Uncertain significance rs71094709 GRCh37 Chromosome 12, 69747279: 69747288
34 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh38 Chromosome 11, 116837398: 116837398
35 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh37 Chromosome 11, 116708114: 116708114
36 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh38 Chromosome 11, 116837379: 116837379
37 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh37 Chromosome 11, 116708095: 116708095
38 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh38 Chromosome 11, 116837033: 116837033
39 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh37 Chromosome 11, 116707749: 116707749
40 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh38 Chromosome 11, 116836158: 116836158
41 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh37 Chromosome 11, 116706874: 116706874
42 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh38 Chromosome 11, 116836132: 116836132
43 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh37 Chromosome 11, 116706848: 116706848
44 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh37 Chromosome 4, 155507965: 155507965
45 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh38 Chromosome 4, 154586813: 154586813
46 B2M NM_004048.2(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh38 Chromosome 15, 44715641: 44715641
47 B2M NM_004048.2(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh37 Chromosome 15, 45007839: 45007839
48 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh38 Chromosome 12, 69350215: 69350215
49 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
50 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh38 Chromosome 12, 69350194: 69350194

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
13.35 APOA1 B2M FGA GSN IAPP LYZ
2
Show member pathways
13.28 APOA1 B2M FGA GSN IAPP LYZ
3
Show member pathways
11.26 APOA1 SAA1 SAA2 SAA4
4
Show member pathways
11.2 APOA1 APOA2 LPA
5 10.78 APOA1 APOA2
6 10.43 APOA1 APOA2

GO Terms for Amyloidosis, Familial Visceral

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.96 APOA1 APOA2 B2M FGA GSN LYZ
2 extracellular region GO:0005576 9.93 APOA1 APOA2 B2M FGA GSN IAPP
3 cell surface GO:0009986 9.83 APOA1 B2M FGA PSEN1 TNFRSF1A
4 extracellular space GO:0005615 9.73 APOA1 APOA2 B2M FGA GSN IAPP
5 endoplasmic reticulum lumen GO:0005788 9.71 APOA1 APOA2 B2M FGA
6 blood microparticle GO:0072562 9.62 APOA1 APOA2 FGA GSN
7 very-low-density lipoprotein particle GO:0034361 9.49 APOA1 APOA2
8 endocytic vesicle lumen GO:0071682 9.48 APOA1 SAA1
9 chylomicron GO:0042627 9.46 APOA1 APOA2
10 spherical high-density lipoprotein particle GO:0034366 9.37 APOA1 APOA2
11 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 27)
# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 9.91 B2M GSN LYZ PSEN1 TTR
2 lipid transport GO:0006869 9.79 APOA1 APOA2 LPA
3 cell chemotaxis GO:0060326 9.74 SAA1 SAA2 SAA4
4 phosphatidylcholine biosynthetic process GO:0006656 9.63 APOA1 APOA2
5 cholesterol transport GO:0030301 9.63 APOA1 APOA2
6 retinoid metabolic process GO:0001523 9.63 APOA1 APOA2 TTR
7 cholesterol efflux GO:0033344 9.62 APOA1 APOA2
8 lipoprotein metabolic process GO:0042157 9.62 APOA1 APOA2
9 reverse cholesterol transport GO:0043691 9.61 APOA1 APOA2
10 high-density lipoprotein particle remodeling GO:0034375 9.6 APOA1 APOA2
11 low-density lipoprotein particle remodeling GO:0034374 9.59 APOA2 LPA
12 high-density lipoprotein particle assembly GO:0034380 9.58 APOA1 APOA2
13 phospholipid efflux GO:0033700 9.58 APOA1 APOA2
14 positive chemotaxis GO:0050918 9.58 SAA1 SAA2 SAA4
15 chylomicron assembly GO:0034378 9.56 APOA1 APOA2
16 high-density lipoprotein particle clearance GO:0034384 9.55 APOA1 APOA2
17 positive regulation of cholesterol esterification GO:0010873 9.54 APOA1 APOA2
18 chylomicron remodeling GO:0034371 9.52 APOA1 APOA2
19 negative regulation of cytokine secretion involved in immune response GO:0002740 9.49 APOA1 APOA2
20 peptidyl-methionine modification GO:0018206 9.48 APOA1 APOA2
21 regulation of intestinal cholesterol absorption GO:0030300 9.43 APOA1 APOA2
22 negative regulation of lipase activity GO:0060192 9.37 APOA1 APOA2
23 acute-phase response GO:0006953 9.33 SAA1 SAA2 SAA4
24 protein oxidation GO:0018158 9.32 APOA1 APOA2
25 cellular protein metabolic process GO:0044267 9.32 APOA1 APOA2 B2M FGA GSN IAPP
26 negative regulation of very-low-density lipoprotein particle remodeling GO:0010903 9.26 APOA1 APOA2
27 negative regulation of inflammatory response GO:0050728 9.26 APOA1 MEFV SAA1 TNFRSF1A

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 9.88 APOA1 B2M IAPP LYZ MEFV TTR
2 cholesterol transporter activity GO:0017127 9.43 APOA1 APOA2
3 high-density lipoprotein particle binding GO:0008035 9.37 APOA1 APOA2
4 lipase inhibitor activity GO:0055102 9.32 APOA1 APOA2
5 phosphatidylcholine-sterol O-acyltransferase activator activity GO:0060228 9.26 APOA1 APOA2
6 apolipoprotein receptor binding GO:0034190 9.16 APOA1 APOA2
7 high-density lipoprotein particle receptor binding GO:0070653 8.96 APOA1 APOA2
8 chemoattractant activity GO:0042056 8.8 SAA1 SAA2 SAA4

Sources for Amyloidosis, Familial Visceral

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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
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34 ICD10 via Orphanet
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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