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GRD1
MCID: GRV008
MIFTS: 54

Graves Disease 1 (GRD1)

Categories: Endocrine diseases, Immune diseases, Rare diseases
Genes Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Graves Disease 1

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MalaCards integrated aliases for Graves Disease 1:

Name: Graves Disease 1 57
Thyrotoxicosis 57 12 44 15 17 70
Graves Disease, Susceptibility to, 1 57 13
Hyperthyroidism, Autoimmune 57
Grd1 57
Grd 57

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive vs. dominant with relative sex limitation to females and reduced penetrance postulated, but more likely multifactorial


HPO:

31
graves disease 1:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Endocrine diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 32


Sources

Summaries for Graves Disease 1

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OMIM® : 57 Graves disease is an autoimmune disorder in which antibodies to the thyrotropin receptor (TSHR; 603372) result in constitutive activation of the receptor and increased levels of thyroid hormone. Wilkin (1990) reviewed endocrine disorders of hormone excess and hormone deficiency resulting from receptor autoimmunity. (275000) (Updated 05-Apr-2021)

MalaCards based summary : Graves Disease 1, also known as thyrotoxicosis, is related to thyrotoxic periodic paralysis and neonatal thyrotoxicosis. An important gene associated with Graves Disease 1 is GRD1 (Graves Disease, Susceptiblity To, 1), and among its related pathways/superpathways are Aldosterone synthesis and secretion and Angiopoietin Like Protein 8 Regulatory Pathway. The drugs Iodine and Cadexomer iodine have been mentioned in the context of this disorder. Affiliated tissues include thyroid, heart and bone, and related phenotypes are hyperreflexia and hyperhidrosis

Disease Ontology : 12 A thyroid gland disease that is characterized by excess thyroid hormone.

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Related Diseases for Graves Disease 1

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Diseases in the Graves' Disease family:

Graves Disease 1 Graves Disease 2

Diseases related to Graves Disease 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 651)
# Related Disease Score Top Affiliating Genes
1 thyrotoxic periodic paralysis 32.3 TSHR SCN4A KCNJ18
2 neonatal thyrotoxicosis 32.1 TSHR SLC16A2 DIO3 DIO2
3 subacute thyroiditis 31.8 TSHR TPO TG SHBG SERPINA7
4 thyroid crisis 31.7 TSHR TPO TG SERPINA7 POMC
5 hypokalemic periodic paralysis, type 1 31.7 SCN4A KCNJ18 INS
6 exophthalmos 31.2 TSHR TPO TG
7 thyroiditis 30.7 TSHR TPO TG SERPINA7 INS CALCA
8 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 30.6 TSHR TPO TG INS
9 myxedema 30.5 TSHR TPO TG SERPINA7 POMC
10 plummer's disease 30.5 TSHR TPO TG SHBG SERPINA7 PTH
11 exophthalmic ophthalmoplegia 30.5 POMC KCNJ18
12 adenoma 30.4 TSHR TRH TG PTH POMC
13 postsurgical hypothyroidism 30.3 TPO TG PTH
14 thyroid carcinoma 30.3 TSHR TPO TG SLC5A5 CALCA
15 differentiated thyroid carcinoma 30.2 TSHR TPO TG
16 hashimoto thyroiditis 30.2 TSHR TPO TG SERPINA7 DIO2 CALCA
17 struma ovarii 30.1 TSHR TG
18 hyperparathyroidism 30.1 PTH CALCA ALB
19 nodular goiter 30.0 TSHR TPO TG SLC5A5 CALCA
20 hypopituitarism 30.0 TRH SHBG POMC INS
21 athyreosis 30.0 TSHR TG
22 thyroid hormone resistance, selective pituitary 30.0 TXNRD2 TRH THRB
23 hypoparathyroidism 30.0 TPO PTH INS CALCA
24 toxic diffuse goiter 30.0 TSHR TPO TG SERPINA7 DIO2
25 uvulitis 29.9 KCNJ18 INS
26 acromegaly 29.9 TRH SHBG POMC INS
27 acute thyroiditis 29.9 TPO TG SERPINA7 CALCA
28 papillary carcinoma 29.9 TSHR TPO TG CALCA
29 hypothyroidism, congenital, nongoitrous, 1 29.9 TSHR TG PTH
30 graves' disease 29.8 TSHR TPO THRB TG SERPINA7 GRD1
31 sheehan syndrome 29.8 TRH POMC INS
32 hypokalemia 29.8 SCN4A POMC KCNJ18 INS ALB
33 endogenous depression 29.8 TRH POMC INS
34 endemic goiter 29.8 TSHR TPO TG SERPINA7 PTH CALCA
35 hyperthyroxinemia 29.7 TSHR TRH TPO THRB SERPINA7 ALB
36 amenorrhea 29.7 TRH SHBG POMC INS
37 hyperpituitarism 29.6 TRH POMC INS
38 bone resorption disease 29.6 PTH INS CALCA ALB
39 hyperthyroidism 29.6 TSHR TRH TPO THRB TG SLC16A2
40 neurotic disorder 29.5 POMC INS
41 secondary hyperparathyroidism 29.5 PTH CALCA ALB
42 iodine hypothyroidism 29.5 TSHR TPO TG ALB
43 follicular adenoma 29.5 TSHR TPO TG DIO2 CALCA
44 thyroid gland anaplastic carcinoma 29.4 TSHR TPO TG SLC5A5 CALCA
45 multinodular goiter 29.4 TSHR TPO TG PTH CALCA
46 glucose intolerance 29.4 SHBG POMC INS ALB
47 substernal goiter 29.4 TG PTH CALCA
48 hyperuricemia 29.3 PTH INS ALB
49 pseudohypoparathyroidism 29.2 TRH PTH CALCA
50 primary hyperparathyroidism 29.1 PTH POMC INS CALCA ALB

Graphical network of the top 20 diseases related to Graves Disease 1:



Diseases related to Graves Disease 1
Sources

Symptoms & Phenotypes for Graves Disease 1

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Human phenotypes related to Graves Disease 1:

31 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hyperreflexia 31 HP:0001347
2 hyperhidrosis 31 HP:0000975
3 muscle weakness 31 HP:0001324
4 congestive heart failure 31 HP:0001635
5 irritability 31 HP:0000737
6 proptosis 31 HP:0000520
7 weight loss 31 HP:0001824
8 goiter 31 HP:0000853
9 abnormality of metabolism/homeostasis 31 HP:0001939
10 hyperactivity 31 HP:0000752
11 onycholysis 31 HP:0001806
12 polyphagia 31 HP:0002591
13 graves disease 31 HP:0100647
14 pretibial myxedema 31 HP:0200028
15 abnormal abdomen morphology 31 HP:0001438

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neuro:
hyperreflexia

Misc:
irritability
weight loss
hyperactivity
nervousness
hyperpyrexia

Skin:
pretibial myxedema
increased sweating

Endocrine:
thyrotoxicosis

G I:
increased appetite
gi hypermotility

Lab:
high t4 and t3
high rai
low serum tsh

Muscle:
muscle weakness

Neck:
goiter

Eyes:
exophthalmos

Nails:
oncholysis

Cardiac:
high output congestive heart failure

Clinical features from OMIM®:

275000 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Graves Disease 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.7 ALB DIO2 INS POMC PTH SLC5A5
2 homeostasis/metabolism MP:0005376 9.5 ALB DIO2 DIO3 INS POMC PTH
Sources

Drugs & Therapeutics for Graves Disease 1

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Drugs for Graves Disease 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Iodine Approved, Investigational Phase 4 7553-56-2 807
2
Cadexomer iodine Experimental Phase 4 94820-09-4
3 Lugol's solution Phase 4
4 Pharmaceutical Solutions Phase 4
5
tannic acid Approved Phase 3 1401-55-4
6
Carbimazole Approved, Investigational Phase 3 22232-54-8 31072
7
Propylthiouracil Approved, Investigational Phase 3 51-52-5 657298
8
Benzocaine Approved, Investigational Phase 3 1994-09-7, 94-09-7 2337
9 Antimetabolites Phase 3
10 Hormone Antagonists Phase 3
11 Hormones Phase 3
12 Antithyroid Agents Phase 3
13
Methimazole Approved Phase 2 60-56-0 1349907
14
Selenium Approved, Investigational, Vet_approved Phase 2 7782-49-2
15 Trace Elements Phase 2
16 Nutrients Phase 2
17 Micronutrients Phase 2
18 Protective Agents Phase 2
19 Antioxidants Phase 2
20 Autoantibodies Phase 2
21
Xylometazoline Approved, Investigational 526-36-3 5709
22
Amiodarone Approved, Investigational 1951-25-3 2157
23
Folic acid Approved, Nutraceutical, Vet_approved 59-30-3 6037
24
Thiamine Approved, Investigational, Nutraceutical, Vet_approved 70-16-6, 59-43-8 1130
25 Vitamin B9
26 Vitamins
27 Vitamin B Complex
28 Folate
29 Thiamin

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Randomized Clinical Trial, Blinded for the Researcher and Multicenter, to Evaluate the Efficacy and Safety of Preoperative Preparation With Lugol Solution in Euthyroid Patients With Graves-Basedow Disease. Recruiting NCT03980132 Phase 4 Lugols Strong Iodine
2 A Randomised Study of Two Anti-thyroid Drug Treatment Regimens in Young People Completed NCT01436994 Phase 3 carbimazole;propylthiouracil;thyroxine
3 Neuropsychologic and Immunological Evaluation in Treatment of Thyroid Diseases. Is Selenium Efficient? Completed NCT01247077 Phase 2
4 Clinical Application of Continuous Monitoring Data for the Pulse Rate, Exercise, and Calorie Intake by Wearable Activity Trackers in the Patients With Thyrotoxicosis Completed NCT03009357
5 Cardiac Effects of Thyrotropin Over-Suppression With Levothyroxine in Young Women With Differentiated Thyroid Cancer Completed NCT02645786
6 Differential Diagnosis Value of Peak Systolic Velocity of Thyroid Superior Artery Using Color Flow Doppler Sonography in Transient Thyrotoxicosis Caused by Thyroiditis and Graves Disease Completed NCT01227499
7 Preoperative Therapeutic Plasma Exchange and Surgical Treatment in Thyrotoxicosis Patients: a Single-centre Retrospective Cohort Study Completed NCT04485975
8 Efficacy of Thiamine Supplement for Improve Cardiovascular Function in Patients With Severe Hyperthyroidism Completed NCT02767245 Thiamine
9 Prevention of Iodinated Contrast Media Induced Hyperthyroidism in Patients With Euthyroid Goiter Completed NCT04304794 Prophylactic administration of antithyroid drugs before iodinated contrast media exposure
10 The Relationship of Vascular Cell Adhesion Molecule 1, C-reactive Protein, Brain-derived Neurotrophic Factor, Orexin and Depressive Symptoms in the Subjects With Thyroid Disease Recruiting NCT02886949
11 Clinical Application of Continuous Monitoring Data for the Pulse Rate, Exercise, and Symptom Survey by Wearable Device in the Patients With Thyroid Dysfunction Recruiting NCT04806269
12 Pilot Study for Treatment of Amiodarone-Induced Thyroiditis With Radiofrequency Ablation Terminated NCT03720210

Search NIH Clinical Center for Graves Disease 1

Inferred drug relations via UMLS 70 / NDF-RT 51 :


levothyroxine
Levothyroxine Sodium
liothyronine
liothyronine sodium
Potassium Iodide
POTASSIUM IODIDE GRANULES
Thyroglobulin
THYROID (BEEF)
thyroid (USP)
THYROID PWDR

Cochrane evidence based reviews: thyrotoxicosis

Sources

Genetic Tests for Graves Disease 1

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Anatomical Context for Graves Disease 1

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MalaCards organs/tissues related to Graves Disease 1:

40
Thyroid, Heart, Bone, Liver, Pituitary, Brain, Cortex
Sources

Publications for Graves Disease 1

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Articles related to Graves Disease 1:

(show top 50) (show all 7930)
# Title Authors PMID Year
1
The thyrotropin receptor autoantigen in Graves disease is the culprit as well as the victim. 57 61
12813025 2003
2
Thyroid-stimulating immunoglobulins and thyroid function tests in two siblings with neonatal thyrotoxicosis. 61 57
2874029 1986
3
Graves' disease associated with familial deficiency of thyroxine-binding globulin. 61 57
402376 1977
4
Humoral and genetic factors in thyrotoxic Graves disease and neonatal thyrotoxicosis. 61 57
946443 1976
5
The hereditary and familial aspects of toxic nodular goitre (secondary thyrotoxicosis). 57 61
14883303 1951
6
A genome-wide association study identifies two new risk loci for Graves' disease. 57
21841780 2011
7
Association of the thyroid stimulating hormone receptor gene (TSHR) with Graves' disease. 57
19244275 2009
8
Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. 57
17535987 2007
9
Association of the TSHR gene with Graves' disease: the first disease specific locus. 57
16106256 2005
10
Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' disease. 57
15741259 2005
11
Regression mapping of association between the human leukocyte antigen region and Graves disease. 57
15558498 2005
12
Choanal atresia associated with prenatal methimazole exposure: three new patients. 57
15266622 2004
13
Intercellular adhesion molecule 1 gene polymorphisms in Graves' disease. 57
14557478 2003
14
Retinal microvascular abnormalities in patients treated with external radiation for graves ophthalmopathy. 57
12742842 2003
15
Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. 57
12724780 2003
16
Association study of autoimmune thyroid disease at 5q23-q33 in Japanese patients. 57
12768441 2003
17
Plasma concentration of asymmetric dimethylarginine, an endogenous inhibitor of nitric oxide synthase, is elevated in hyperthyroid patients. 57
12466365 2002
18
A polymorphism within the vitamin D-binding protein gene is associated with Graves' disease but not with Hashimoto's thyroiditis. 57
12050214 2002
19
Comparison of the effectiveness and tolerability of intravenous or oral glucocorticoids associated with orbital radiotherapy in the management of severe Graves' ophthalmopathy: results of a prospective, single-blind, randomized study. 57
11502779 2001
20
Vitamin D receptor gene polymorphism is associated with Graves' disease in the Japanese population. 57
11134121 2000
21
The human leukocyte antigen HLA DRB3*020/DQA1*0501 haplotype is associated with Graves' disease in African Americans. 57
10770195 2000
22
HLA-DRB1*08, DRB1*03/DRB3*0101, and DRB3*0202 are susceptibility genes for Graves' disease in North American Caucasians, whereas DRB1*07 is protective. 57
10487684 1999
23
The cytotoxic T lymphocyte antigen-4 is a major Graves' disease locus. 57
10369864 1999
24
Linkage disequilibrium between the human leukocyte antigen class II region of the major histocompatibility complex and Graves' disease: replication using a population case control and family-based study. 57
9768636 1998
25
Linkage analysis of candidate genes in autoimmune thyroid disease. II. Selected gender-related genes and the X-chromosome. International Consortium for the Genetics of Autoimmune Thyroid Disease. 57
9745443 1998
26
Mapping of a major susceptibility locus for Graves' disease (GD-1) to chromosome 14q31. 57
9141566 1997
27
CTLA4 alanine-17 confers genetic susceptibility to Graves' disease and to type 1 diabetes mellitus. 57
8989248 1997
28
Analysis of the thyrotropin receptor as a candidate gene in familial Graves' disease. 57
8855789 1996
29
Induction of Graves-like disease in mice by immunization with fibroblasts transfected with the thyrotropin receptor and a class II molecule. 57
8855311 1996
30
Pathogenesis of Graves' ophthalmopathy. 57
8413459 1993
31
Receptor autoimmunity in endocrine disorders. 57
2170843 1990
32
Relative predispositional effects (RPEs) of marker alleles with disease: HLA-DR alleles and Graves disease. 57
2491013 1989
33
Two major genes, linked to HLA and Gm, control susceptibility to Graves' disease. 57
6894965 1981
34
A study of human leukocyte D locus related antigens in Graves' disease. 57
105012 1979
35
Genetics of Graves' disease. 57
4678502 1972
36
The hereditary and familial aspects of exophthalmic goitre and nodular goitre. 57
21011421 1945
37
50 Years Ago in TheJournalofPediatrics: Advances in Neonatal Thyrotoxicosis. 61
33766296 2021
38
Pathological thyroid findings in amiodarone-induced thyrotoxicosis. 61
33726888 2021
39
A 33-year-old man with COVID-19 presented with subacute thyroiditis: A rare case report. 61
33777402 2021
40
Subacute thyroiditis in a patient infected with SARS-COV-2: an endocrine complication linked to the COVID-19 pandemic. 61
32676935 2021
41
Testing, Monitoring, and Treatment of Thyroid Dysfunction in Pregnancy. 61
33349844 2021
42
Severe hyperthyroidism without symptoms due to nonthyroidal illness in a child with acute hepatitis: case report and literature review. 61
32965700 2021
43
Emergency Presentations of Immune Checkpoint Inhibitor-Related Endocrinopathies. 61
33795170 2021
44
Proteomic analysis of thyroid tissue reveals enhanced catabolic activity in Graves' disease compared to toxic multinodular goitre. 61
33728674 2021
45
Graves' disease in a five-month-old boy with an unusual treatment course. 61
33675208 2021
46
Unexpected 99mTcO4- Uptake by Lung Adenocarcinoma. 61
33782313 2021
47
A case of postpartum thyroiditis following SARS-CoV-2 infection. 61
33177251 2021
48
Iodine supplementation for pregnant women: a cross-sectional national interventional study. 61
33704696 2021
49
Prevalence and course of thyroid dysfunction in neonates at high risk of Graves' disease or with non-autoimmune hyperthyroidism. 61
33465046 2021
50
Therapeutic Plasma Exchange in Refractory Hyperthyroidism. 61
33777824 2021
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Variations for Graves Disease 1

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Expression for Graves Disease 1

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Search GEO for disease gene expression data for Graves Disease 1.
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Pathways for Graves Disease 1

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Pathways related to Graves Disease 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Aldosterone synthesis and secretion 36
Show member pathways
 12.33 TSHR TPO TG SLC5A5 SERPINA7 POMC
2
Angiopoietin Like Protein 8 Regulatory Pathway 1
Show member pathways
 12.24 THRB SLC16A2 INS DIO2
3
Folate Metabolism 1
Show member pathways
 11.99 TXNRD2 INS DIO3 DIO2 ALB
4
G alpha (s) signalling events 65
11.83 TSHR PTH POMC CALCA
5
Thyroid hormone signaling pathway 36
11.71 THRB SLC16A2 DIO3 DIO2
6
Transcription_Role of VDR in regulation of genes involved in osteoporosis 23
11.26 THRB PTH CALCA
7
Amine-derived hormones 65
Show member pathways
 11.06 TPO SLC5A5 DIO3 DIO2
8
thyronamine and iodothyronamine metabolism 1
Show member pathways
 10.01 DIO3 DIO2
9
Thyroxine (Thyroid Hormone) Production 1
9.8 TSHR TRH TPO TG SLC5A5
Sources

GO Terms for Graves Disease 1

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Cellular components related to Graves Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.56 TPO TG SERPINA7 PTH POMC INS
2 extracellular region GO:0005576 9.28 TRH TG SHBG SERPINA7 PTH POMC

Biological processes related to Graves Disease 1 according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.73 TSHR TRH PTH POMC INS CALCA
2 cellular oxidant detoxification GO:0098869 9.69 TXNRD2 TPO ALB
3 hormone-mediated signaling pathway GO:0009755 9.63 TSHR TRH THRB
4 positive regulation of glycogen biosynthetic process GO:0045725 9.54 PTH INS
5 retinal cone cell development GO:0046549 9.52 THRB DIO3
6 thyroid hormone transport GO:0070327 9.49 SLC16A2 SERPINA7
7 negative regulation of feeding behavior GO:2000252 9.48 TRH INS
8 hormone biosynthetic process GO:0042446 9.46 TPO TG DIO3 DIO2
9 iodide transport GO:0015705 9.43 TG SLC5A5
10 retinal cone cell apoptotic process GO:0097474 9.4 THRB DIO3
11 negative regulation of eye photoreceptor cell development GO:0042480 9.37 THRB DIO3
12 thyroid hormone catabolic process GO:0042404 9.32 DIO3 DIO2
13 thyroid hormone metabolic process GO:0042403 9.26 TG SLC16A2 DIO3 DIO2
14 thyroid hormone generation GO:0006590 9.02 TPO TG SLC5A5 DIO3 DIO2

Molecular functions related to Graves Disease 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 thyroxine 5'-deiodinase activity GO:0004800 9.16 DIO3 DIO2
2 hormone activity GO:0005179 9.1 TRH TG PTH POMC INS CALCA
3 thyroxine 5-deiodinase activity GO:0033798 8.96 DIO3 DIO2
Sources

Sources for Graves Disease 1

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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