AMYL8
MCID: AMY082
MIFTS: 51

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 al amyloidosis and amyloidosis, hereditary, transthyretin-related. 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:

(showing 143, show less)
# Related Disease Score Top Affiliating Genes
1 al amyloidosis 29.7 B2M LYZ TTR
2 amyloidosis, hereditary, transthyretin-related 29.6 APOA1 GSN TTR
3 familial mediterranean fever 28.7 MEFV SAA1 SAA2 SAA4
4 amyloidosis aa 28.5 APOA1 B2M MEFV SAA1 SAA2 SAA4
5 amyloidosis 27.6 APOA1 B2M FGA GSN LYZ MEFV
6 muckle-wells syndrome 11.5
7 aapoaii amyloidosis 11.3
8 afib amyloidosis 11.3
9 aapoai amyloidosis 11.3
10 familial cold autoinflammatory syndrome 1 11.3
11 familial mediterranean fever, autosomal dominant 11.1
12 diffuse glomerulonephritis 10.3 B2M LYZ
13 familial lcat deficiency 10.3 APOA1 APOA2
14 nephrotic syndrome 10.3
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 10.3
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 rheumatoid arthritis 10.2
30 glomerulonephritis 10.2
31 hypolipoproteinemia 10.2 APOA1 APOA2
32 hypoalphalipoproteinemia, primary 10.2 APOA1 APOA2
33 angina pectoris 10.2 APOA2 FGA
34 arcus corneae 10.2 APOA1 APOA2
35 juvenile rheumatoid arthritis 10.1
36 amyloidosis, finnish type 10.1 GSN TTR
37 retinitis pigmentosa 7 10.1 B2M LYZ TTR
38 testicular yolk sac tumor 10.1 APOA1 TTR
39 hyperalphalipoproteinemia 1 10.1 APOA1 APOA2
40 pediatric multiple sclerosis 10.1 GSN TTR
41 bardet-biedl syndrome 2 10.0 APOA1 LYZ
42 crescentic glomerulonephritis 10.0
43 crohn's disease 10.0
44 castleman disease 10.0
45 polyneuropathy 10.0 APOA1 GSN TTR
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
51 spondyloarthropathy 1 9.8
52 temporal arteritis 9.8
53 cystic fibrosis 9.8
54 ciliary dyskinesia, primary, 1 9.8
55 sickle cell anemia 9.8
56 chronic granulomatous disease 9.8
57 common variable immunodeficiency 9.8
58 epidermolysis bullosa dystrophica 9.8
59 kartagener syndrome 9.8
60 renal tubular acidosis 9.8
61 rheumatic heart disease 9.8
62 multicentric castleman disease 9.8
63 interstitial nephritis 9.8
64 heart disease 9.8
65 pure red-cell aplasia 9.8
66 schistosomiasis 9.8
67 adult-onset still's disease 9.8
68 pulmonary tuberculosis 9.8
69 spondylitis 9.8
70 vasculitis 9.8
71 macroglobulinemia 9.8
72 bronchiectasis 9.8
73 sickle cell disease 9.8
74 hypoaldosteronism 9.8
75 brucellosis 9.8 MEFV SAA1
76 leukemia, chronic lymphocytic 2 9.7
77 behcet syndrome 9.7
78 bladder cancer 9.7
79 diabetes insipidus, nephrogenic, autosomal 9.7
80 leukemia, chronic lymphocytic 9.7
81 pulmonary hemosiderosis 9.7
82 leprosy 3 9.7
83 myelofibrosis 9.7
84 hyper-igd syndrome 9.7
85 sjogren syndrome 9.7
86 thymoma, familial 9.7
87 agammaglobulinemia, x-linked 9.7
88 rheumatoid arthritis, systemic juvenile 9.7
89 premature ovarian failure 7 9.7
90 aspergillosis 9.7
91 membranous nephropathy 9.7
92 end stage renal failure 9.7
93 hepatitis 9.7
94 hepatitis b 9.7
95 leukemia 9.7
96 neutropenia 9.7
97 invasive aspergillosis 9.7
98 inflammatory bowel disease 9.7
99 abdominal tuberculosis 9.7
100 salmonellosis 9.7
101 igg4-related disease 9.7
102 familial cold autoinflammatory syndrome 9.7
103 tuberculoid leprosy 9.7
104 lymphocytic leukemia 9.7
105 filariasis 9.7
106 lipoid nephrosis 9.7
107 hemosiderosis 9.7
108 gout 9.7
109 sapho syndrome 9.7
110 rheumatic disease 9.7
111 squamous cell carcinoma 9.7
112 agammaglobulinemia 9.7
113 thymoma 9.7
114 multidrug-resistant tuberculosis 9.7
115 proliferative glomerulonephritis 9.7
116 mesangial proliferative glomerulonephritis 9.7
117 urinary tract obstruction 9.7
118 kidney disease 9.7
119 adenoma 9.7
120 whipple disease 9.7
121 hodgkin's lymphoma, lymphocytic-histiocytic predominance 9.7
122 psoriasis 9.7
123 diabetes insipidus 9.7
124 polyarteritis nodosa 9.7
125 hansen's disease 9.7
126 leukemia, b-cell, chronic 9.7
127 pustular psoriasis 9.7
128 retroperitoneal fibrosis 9.7
129 systemic onset juvenile idiopathic arthritis 9.7
130 wells syndrome 9.7
131 alect2 amyloidosis 9.7
132 renal cell carcinoma, nonpapillary 9.7
133 factor x deficiency 9.7
134 oncocytoma 9.7
135 joint disorders 9.7
136 renal oncocytoma 9.7
137 recessive dystrophic epidermolysis bullosa 9.7
138 hidradenitis suppurativa 9.7
139 hidradenitis 9.7
140 papillary carcinoma 9.7
141 arthropathy 9.7
142 ah amyloidosis 9.7
143 hereditary amyloidosis 9.3 APOA1 APOA2 B2M FGA GSN LYZ

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 (showing 11, show less)
# 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 (showing 3, show less)
# 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, Heart, Eye, B Cells, Liver

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:

(showing 23, show less)
# 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
2
Hereditary systemic amyloidosis due to Asp76Asn variant β2-microglobulin. ( 22693999 )
2012
3
Cardiac amyloidosis with the E526V mutation of the fibrinogen A alpha-chain. ( 19109585 )
2008
4
Lysozyme amyloidosis: report of 4 cases and a review of the literature. ( 16523055 )
2006
5
Underdiagnosed amyloidosis: amyloidosis of lysozyme variant. ( 15745733 )
2005
6
A novel lysozyme mutation Phe57Ile associated with hereditary renal amyloidosis. ( 12675840 )
2003
7
Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. ( 12050338 )
2002
8
Hereditary renal amyloidosis caused by a new variant lysozyme W64R in a French family. ( 11849445 )
2002
9
A family with gastrointestinal amyloidosis associated with variant lysozyme. ( 12360495 )
2002
10
A novel apolipoprotein A-1 variant, Arg173Pro, associated with cardiac and cutaneous amyloidosis. ( 10198255 )
1999
11
The new apolipoprotein A-I variant leu(174) --> Ser causes hereditary cardiac amyloidosis, and the amyloid fibrils are constituted by the 93-residue N-terminal polypeptide. ( 10487826 )
1999
12
Hereditary renal amyloidosis associated with variant lysozyme in a large English family. ( 10534505 )
1999
13
Renal amyloidosis with a frame shift mutation in fibrinogen aalpha-chain gene producing a novel amyloid protein. ( 9389696 )
1997
14
'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis. ( 8566845 )
1996
15
The molecular basis of renal amyloidosis in Irish-American and Polish-Canadian kindreds. ( 8944230 )
1996
16
Hereditary hepatic and systemic amyloidosis caused by a new deletion/insertion mutation in the apolipoprotein AI gene. ( 8675681 )
1996
17
A frame shift mutation in the fibrinogen A alpha chain gene in a kindred with renal amyloidosis. ( 8639778 )
1996
18
Hereditary renal amyloidosis with a novel variant fibrinogen. ( 8113408 )
1994
19
Human lysozyme gene mutations cause hereditary systemic amyloidosis. ( 8464497 )
1993
20
Hereditary renal amyloidosis associated with a mutant fibrinogen alpha-chain. ( 8097946 )
1993
21
Apolipoprotein AI mutation Arg-60 causes autosomal dominant amyloidosis. ( 1502149 )
1992
22
Familial nephropathic non-neuropathic amyloidosis: clinical features, immunohistochemistry and chemistry. ( 1808634 )
1991
23
Inherited predisposition to generalized amyloidosis. Clinical and pathological study of a family with neuropathy, nephropathy, and peptic ulcer. ( 4304452 )
1969

Variations for Amyloidosis, Familial Visceral

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

76 (showing 7, show less)
# 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 (showing 147, show less)
# 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.1622del (p.Val541Alafs) deletion Pathogenic rs587777761 GRCh38 Chromosome 4, 154585807: 154585807
4 FGA NM_000508.4(FGA): c.1622del (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.1629del (p.Thr544Leufs) deletion Pathogenic rs587777762 GRCh37 Chromosome 4, 155506952: 155506952
8 FGA NM_000508.4(FGA): c.1629del (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 LYZ NM_000239.2(LYZ): c.*442T> G single nucleotide variant Uncertain significance rs886049807 GRCh38 Chromosome 12, 69353661: 69353661
35 LYZ NM_000239.2(LYZ): c.*442T> G single nucleotide variant Uncertain significance rs886049807 GRCh37 Chromosome 12, 69747441: 69747441
36 LYZ NM_000239.2(LYZ): c.*331G> A single nucleotide variant Uncertain significance rs762377090 GRCh38 Chromosome 12, 69353550: 69353550
37 LYZ NM_000239.2(LYZ): c.*331G> A single nucleotide variant Uncertain significance rs762377090 GRCh37 Chromosome 12, 69747330: 69747330
38 LYZ NM_000239.2(LYZ): c.*178C> T single nucleotide variant Benign rs710794 GRCh38 Chromosome 12, 69353397: 69353397
39 LYZ NM_000239.2(LYZ): c.*178C> T single nucleotide variant Benign rs710794 GRCh37 Chromosome 12, 69747177: 69747177
40 LYZ NM_000239.2(LYZ): c.*169G> A single nucleotide variant Likely benign rs568058282 GRCh38 Chromosome 12, 69353388: 69353388
41 LYZ NM_000239.2(LYZ): c.*169G> A single nucleotide variant Likely benign rs568058282 GRCh37 Chromosome 12, 69747168: 69747168
42 LYZ NM_000239.2(LYZ): c.-1C> T single nucleotide variant Benign rs513342 GRCh37 Chromosome 12, 69742188: 69742188
43 LYZ NM_000239.2(LYZ): c.-1C> T single nucleotide variant Benign rs513342 GRCh38 Chromosome 12, 69348408: 69348408
44 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh38 Chromosome 11, 116837398: 116837398
45 APOA1 NM_000039.2(APOA1): c.-11G> A single nucleotide variant Likely benign rs199729971 GRCh37 Chromosome 11, 116708114: 116708114
46 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh38 Chromosome 11, 116837379: 116837379
47 APOA1 NM_000039.2(APOA1): c.9T> C (p.Ala3=) single nucleotide variant Uncertain significance rs141383703 GRCh37 Chromosome 11, 116708095: 116708095
48 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh38 Chromosome 11, 116837033: 116837033
49 APOA1 NM_000039.2(APOA1): c.168G> A (p.Gln56=) single nucleotide variant Uncertain significance rs760886281 GRCh37 Chromosome 11, 116707749: 116707749
50 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh38 Chromosome 11, 116836158: 116836158
51 APOA1 NM_000039.2(APOA1): c.454G> A (p.Glu152Lys) single nucleotide variant Likely benign rs574061789 GRCh37 Chromosome 11, 116706874: 116706874
52 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh38 Chromosome 11, 116836132: 116836132
53 APOA1 NM_000039.2(APOA1): c.480G> T (p.Glu160Asp) single nucleotide variant Uncertain significance rs769548576 GRCh37 Chromosome 11, 116706848: 116706848
54 FGA NM_021871.3(FGA): c.614A> G (p.Glu205Gly) single nucleotide variant Uncertain significance rs886059152 GRCh37 Chromosome 4, 155507967: 155507967
55 FGA NM_021871.3(FGA): c.614A> G (p.Glu205Gly) single nucleotide variant Uncertain significance rs886059152 GRCh38 Chromosome 4, 154586815: 154586815
56 FGA NM_021871.3(FGA): c.822C> T (p.Ser274=) single nucleotide variant Uncertain significance rs886059150 GRCh37 Chromosome 4, 155507759: 155507759
57 FGA NM_021871.3(FGA): c.822C> T (p.Ser274=) single nucleotide variant Uncertain significance rs886059150 GRCh38 Chromosome 4, 154586607: 154586607
58 FGA NM_021871.3(FGA): c.1823G> C (p.Gly608Ala) single nucleotide variant Uncertain significance rs370873387 GRCh37 Chromosome 4, 155506758: 155506758
59 FGA NM_021871.3(FGA): c.1823G> C (p.Gly608Ala) single nucleotide variant Uncertain significance rs370873387 GRCh38 Chromosome 4, 154585606: 154585606
60 FGA NM_021871.3(FGA): c.1838A> G (p.His613Arg) single nucleotide variant Likely benign rs201686865 GRCh37 Chromosome 4, 155506743: 155506743
61 FGA NM_021871.3(FGA): c.1838A> G (p.His613Arg) single nucleotide variant Likely benign rs201686865 GRCh38 Chromosome 4, 154585591: 154585591
62 FGA NM_021871.3(FGA): c.*50T> G single nucleotide variant Uncertain significance rs369606098 GRCh37 Chromosome 4, 155506596: 155506596
63 FGA NM_021871.3(FGA): c.*50T> G single nucleotide variant Uncertain significance rs369606098 GRCh38 Chromosome 4, 154585444: 154585444
64 FGA NM_021871.3(FGA): c.-58A> G single nucleotide variant Benign rs2070011 GRCh37 Chromosome 4, 155511897: 155511897
65 FGA NM_021871.3(FGA): c.-58A> G single nucleotide variant Benign rs2070011 GRCh38 Chromosome 4, 154590745: 154590745
66 FGA NM_021871.3(FGA): c.16A> G (p.Ile6Val) single nucleotide variant Benign rs2070025 GRCh37 Chromosome 4, 155511824: 155511824
67 FGA NM_021871.3(FGA): c.16A> G (p.Ile6Val) single nucleotide variant Benign rs2070025 GRCh38 Chromosome 4, 154590672: 154590672
68 FGA NM_021871.3(FGA): c.244A> C (p.Thr82Pro) single nucleotide variant Uncertain significance rs199554805 GRCh37 Chromosome 4, 155510065: 155510065
69 FGA NM_021871.3(FGA): c.244A> C (p.Thr82Pro) single nucleotide variant Uncertain significance rs199554805 GRCh38 Chromosome 4, 154588913: 154588913
70 FGA NM_021871.3(FGA): c.346G> A (p.Asp116Asn) single nucleotide variant Uncertain significance rs886059153 GRCh37 Chromosome 4, 155509963: 155509963
71 FGA NM_021871.3(FGA): c.346G> A (p.Asp116Asn) single nucleotide variant Uncertain significance rs886059153 GRCh38 Chromosome 4, 154588811: 154588811
72 FGA NM_021871.3(FGA): c.666A> T (p.Pro222=) single nucleotide variant Uncertain significance rs886059151 GRCh37 Chromosome 4, 155507915: 155507915
73 FGA NM_021871.3(FGA): c.666A> T (p.Pro222=) single nucleotide variant Uncertain significance rs886059151 GRCh38 Chromosome 4, 154586763: 154586763
74 FGA NM_021871.3(FGA): c.765G> A (p.Pro255=) single nucleotide variant Uncertain significance rs779582722 GRCh37 Chromosome 4, 155507816: 155507816
75 FGA NM_021871.3(FGA): c.765G> A (p.Pro255=) single nucleotide variant Uncertain significance rs779582722 GRCh38 Chromosome 4, 154586664: 154586664
76 FGA NM_021871.3(FGA): c.904C> G (p.Pro302Ala) single nucleotide variant Likely benign rs200203992 GRCh37 Chromosome 4, 155507677: 155507677
77 FGA NM_021871.3(FGA): c.904C> G (p.Pro302Ala) single nucleotide variant Likely benign rs200203992 GRCh38 Chromosome 4, 154586525: 154586525
78 FGA NM_021871.3(FGA): c.919A> G (p.Asn307Asp) single nucleotide variant Uncertain significance rs750564329 GRCh37 Chromosome 4, 155507662: 155507662
79 FGA NM_021871.3(FGA): c.919A> G (p.Asn307Asp) single nucleotide variant Uncertain significance rs750564329 GRCh38 Chromosome 4, 154586510: 154586510
80 FGA NM_021871.3(FGA): c.1417G> A (p.Asp473Asn) single nucleotide variant Uncertain significance rs200378626 GRCh37 Chromosome 4, 155507164: 155507164
81 FGA NM_021871.3(FGA): c.1417G> A (p.Asp473Asn) single nucleotide variant Uncertain significance rs200378626 GRCh38 Chromosome 4, 154586012: 154586012
82 FGA NM_021871.3(FGA): c.1444G> A (p.Val482Met) single nucleotide variant Likely benign rs139146037 GRCh37 Chromosome 4, 155507137: 155507137
83 FGA NM_021871.3(FGA): c.1444G> A (p.Val482Met) single nucleotide variant Likely benign rs139146037 GRCh38 Chromosome 4, 154585985: 154585985
84 FGA NM_021871.3(FGA): c.450G> A (p.Gln150=) single nucleotide variant Uncertain significance rs368446857 GRCh37 Chromosome 4, 155508724: 155508724
85 FGA NM_021871.3(FGA): c.450G> A (p.Gln150=) single nucleotide variant Uncertain significance rs368446857 GRCh38 Chromosome 4, 154587572: 154587572
86 FGA NM_021871.3(FGA): c.1199C> T (p.Ser400Phe) single nucleotide variant Likely benign rs184635235 GRCh37 Chromosome 4, 155507382: 155507382
87 FGA NM_021871.3(FGA): c.1199C> T (p.Ser400Phe) single nucleotide variant Likely benign rs184635235 GRCh38 Chromosome 4, 154586230: 154586230
88 FGA NM_021871.3(FGA): c.1542T> C (p.Pro514=) single nucleotide variant Likely benign rs4766 GRCh37 Chromosome 4, 155507039: 155507039
89 FGA NM_021871.3(FGA): c.1542T> C (p.Pro514=) single nucleotide variant Likely benign rs4766 GRCh38 Chromosome 4, 154585887: 154585887
90 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh37 Chromosome 4, 155507965: 155507965
91 FGA NM_021871.3(FGA): c.616C> G (p.Gln206Glu) single nucleotide variant Uncertain significance rs560732073 GRCh38 Chromosome 4, 154586813: 154586813
92 B2M NM_004048.3(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh38 Chromosome 15, 44715641: 44715641
93 B2M NM_004048.3(B2M): c.286G> A (p.Asp96Asn) single nucleotide variant Pathogenic rs398122820 GRCh37 Chromosome 15, 45007839: 45007839
94 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh38 Chromosome 12, 69350215: 69350215
95 LYZ NM_000239.2(LYZ): c.244T> A (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
96 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh38 Chromosome 12, 69350194: 69350194
97 LYZ NM_000239.2(LYZ): c.223T> A (p.Phe75Ile) single nucleotide variant Pathogenic rs121913549 GRCh37 Chromosome 12, 69743974: 69743974
98 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh38 Chromosome 12, 69350215: 69350215
99 LYZ NM_000239.2(LYZ): c.244T> C (p.Trp82Arg) single nucleotide variant Pathogenic rs387906536 GRCh37 Chromosome 12, 69743995: 69743995
100 LYZ NM_000239.2(LYZ): c.199G> C (p.Asp67His) single nucleotide variant Pathogenic rs387906535 GRCh38 Chromosome 12, 69350170: 69350170
101 LYZ NM_000239.2(LYZ): c.199G> C (p.Asp67His) single nucleotide variant Pathogenic rs387906535 GRCh37 Chromosome 12, 69743950: 69743950
102 LYZ NM_000239.2(LYZ): c.221T> C (p.Ile74Thr) single nucleotide variant Pathogenic rs121913547 GRCh38 Chromosome 12, 69350192: 69350192
103 LYZ NM_000239.2(LYZ): c.221T> C (p.Ile74Thr) single nucleotide variant Pathogenic rs121913547 GRCh37 Chromosome 12, 69743972: 69743972
104 LYZ NM_000239.2(LYZ): c.*440T> A single nucleotide variant Uncertain significance rs886049806 GRCh38 Chromosome 12, 69353659: 69353659
105 LYZ NM_000239.2(LYZ): c.*440T> A single nucleotide variant Uncertain significance rs886049806 GRCh37 Chromosome 12, 69747439: 69747439
106 LYZ NM_000239.2(LYZ): c.*221C> T single nucleotide variant Uncertain significance rs886049804 GRCh38 Chromosome 12, 69353440: 69353440
107 LYZ NM_000239.2(LYZ): c.*221C> T single nucleotide variant Uncertain significance rs886049804 GRCh37 Chromosome 12, 69747220: 69747220
108 LYZ NM_000239.2(LYZ): c.415G> C (p.Val139Leu) single nucleotide variant Likely benign rs367623154 GRCh38 Chromosome 12, 69353187: 69353187
109 LYZ NM_000239.2(LYZ): c.415G> C (p.Val139Leu) single nucleotide variant Likely benign rs367623154 GRCh37 Chromosome 12, 69746967: 69746967
110 LYZ NM_000239.2(LYZ): c.269G> A (p.Gly90Glu) single nucleotide variant Uncertain significance rs141911537 GRCh38 Chromosome 12, 69350240: 69350240
111 LYZ NM_000239.2(LYZ): c.269G> A (p.Gly90Glu) single nucleotide variant Uncertain significance rs141911537 GRCh37 Chromosome 12, 69744020: 69744020
112 LYZ NM_000239.2(LYZ): c.263C> A (p.Thr88Asn) single nucleotide variant Benign rs1800973 GRCh38 Chromosome 12, 69350234: 69350234
113 LYZ NM_000239.2(LYZ): c.263C> A (p.Thr88Asn) single nucleotide variant Benign rs1800973 GRCh37 Chromosome 12, 69744014: 69744014
114 LYZ NM_000239.2(LYZ): c.156G> A (p.Trp52Ter) single nucleotide variant Likely benign rs764263034 GRCh37 Chromosome 12, 69743907: 69743907
115 LYZ NM_000239.2(LYZ): c.156G> A (p.Trp52Ter) single nucleotide variant Likely benign rs764263034 GRCh38 Chromosome 12, 69350127: 69350127
116 APOA1 NM_000039.2(APOA1): c.28G> A (p.Val10Met) single nucleotide variant Uncertain significance rs750125257 GRCh38 Chromosome 11, 116837360: 116837360
117 APOA1 NM_000039.2(APOA1): c.28G> A (p.Val10Met) single nucleotide variant Uncertain significance rs750125257 GRCh37 Chromosome 11, 116708076: 116708076
118 APOA1 NM_000039.2(APOA1): c.181G> A (p.Ala61Thr) single nucleotide variant Likely benign rs12718465 GRCh38 Chromosome 11, 116837020: 116837020
119 APOA1 NM_000039.2(APOA1): c.181G> A (p.Ala61Thr) single nucleotide variant Likely benign rs12718465 GRCh37 Chromosome 11, 116707736: 116707736
120 APOA1 NM_000039.2(APOA1): c.732C> G (p.Pro244=) single nucleotide variant Likely benign rs5080 GRCh38 Chromosome 11, 116835880: 116835880
121 APOA1 NM_000039.2(APOA1): c.732C> G (p.Pro244=) single nucleotide variant Likely benign rs5080 GRCh37 Chromosome 11, 116706596: 116706596
122 APOA1 NM_000039.2(APOA1): c.*19C> G single nucleotide variant Likely benign rs187335584 GRCh38 Chromosome 11, 116835789: 116835789
123 APOA1 NM_000039.2(APOA1): c.*19C> G single nucleotide variant Likely benign rs187335584 GRCh37 Chromosome 11, 116706505: 116706505
124 APOA1 NM_000039.2(APOA1): c.284T> A (p.Phe95Tyr) single nucleotide variant Likely benign rs138407155 GRCh38 Chromosome 11, 116836328: 116836328
125 APOA1 NM_000039.2(APOA1): c.284T> A (p.Phe95Tyr) single nucleotide variant Likely benign rs138407155 GRCh37 Chromosome 11, 116707044: 116707044
126 LYZ NM_000239.2(LYZ): c.*835C> T single nucleotide variant Benign rs1384 GRCh37 Chromosome 12, 69747834: 69747834
127 LYZ NM_000239.2(LYZ): c.*835C> T single nucleotide variant Benign rs1384 GRCh38 Chromosome 12, 69354054: 69354054
128 LYZ NM_000239.2(LYZ): c.*735delA deletion Likely benign rs148802204 GRCh37 Chromosome 12, 69747734: 69747734
129 LYZ NM_000239.2(LYZ): c.*735delA deletion Likely benign rs148802204 GRCh38 Chromosome 12, 69353954: 69353954
130 LYZ NM_000239.2(LYZ): c.*565G> T single nucleotide variant Uncertain significance rs886049808 GRCh38 Chromosome 12, 69353784: 69353784
131 LYZ NM_000239.2(LYZ): c.*565G> T single nucleotide variant Uncertain significance rs886049808 GRCh37 Chromosome 12, 69747564: 69747564
132 LYZ NM_000239.2(LYZ): c.*521G> A single nucleotide variant Likely benign rs567541896 GRCh38 Chromosome 12, 69353740: 69353740
133 LYZ NM_000239.2(LYZ): c.*521G> A single nucleotide variant Likely benign rs567541896 GRCh37 Chromosome 12, 69747520: 69747520
134 LYZ NM_000239.2(LYZ): c.*470C> T single nucleotide variant Uncertain significance rs554855169 GRCh38 Chromosome 12, 69353689: 69353689
135 LYZ NM_000239.2(LYZ): c.*470C> T single nucleotide variant Uncertain significance rs554855169 GRCh37 Chromosome 12, 69747469: 69747469
136 LYZ NM_000239.2(LYZ): c.*461G> A single nucleotide variant Likely benign rs531233279 GRCh38 Chromosome 12, 69353680: 69353680
137 LYZ NM_000239.2(LYZ): c.*461G> A single nucleotide variant Likely benign rs531233279 GRCh37 Chromosome 12, 69747460: 69747460
138 LYZ NM_000239.2(LYZ): c.*289_*290insTTTTTTTTTTTTT insertion Uncertain significance rs71094709 GRCh38 Chromosome 12, 69353508: 69353509
139 LYZ NM_000239.2(LYZ): c.*289_*290insTTTTTTTTTTTTT insertion Uncertain significance rs71094709 GRCh37 Chromosome 12, 69747288: 69747289
140 LYZ NM_000239.2(LYZ): c.*242C> A single nucleotide variant Likely benign rs576522577 GRCh38 Chromosome 12, 69353461: 69353461
141 LYZ NM_000239.2(LYZ): c.*242C> A single nucleotide variant Likely benign rs576522577 GRCh37 Chromosome 12, 69747241: 69747241
142 LYZ NM_000239.2(LYZ): c.*191A> G single nucleotide variant Likely benign rs183375295 GRCh38 Chromosome 12, 69353410: 69353410
143 LYZ NM_000239.2(LYZ): c.*191A> G single nucleotide variant Likely benign rs183375295 GRCh37 Chromosome 12, 69747190: 69747190
144 APOA1 NM_000039.2(APOA1): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs746314593 GRCh38 Chromosome 11, 116837085: 116837085
145 APOA1 NM_000039.2(APOA1): c.116C> T (p.Ala39Val) single nucleotide variant Uncertain significance rs746314593 GRCh37 Chromosome 11, 116707801: 116707801
146 APOA1 NM_000039.2(APOA1): c.498C> A (p.Ser166Arg) single nucleotide variant Uncertain significance rs757899657 GRCh38 Chromosome 11, 116836114: 116836114
147 APOA1 NM_000039.2(APOA1): c.498C> A (p.Ser166Arg) single nucleotide variant Uncertain significance rs757899657 GRCh37 Chromosome 11, 116706830: 116706830

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:

(showing 7, show less)
# 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:

(showing 10, show less)
# 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:

(showing 29, show less)
# 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:

(showing 10, show less)
# 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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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