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MCID: MCR017
MIFTS: 44

Macrocytic Anemia

Categories: Blood diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Macrocytic Anemia

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MalaCards integrated aliases for Macrocytic Anemia:

Name: Macrocytic Anemia 12 29 6 15
Anemia, Macrocytic 43 71
Anemia Macrocytic 12 54
Macrocytic Anaemia 12

Classifications:

MalaCards categories:
Anatomical: Blood diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 12 DOID:2361
MeSH 43 D000748
NCIt 49 C34381
SNOMED-CT 67 83414005
UMLS 71 C0002886
Sources

Summaries for Macrocytic Anemia

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MalaCards based summary : Macrocytic Anemia, also known as anemia, macrocytic, is related to chromosome 5q deletion syndrome and diamond-blackfan anemia 1. An important gene associated with Macrocytic Anemia is SFXN4 (Sideroflexin 4), and among its related pathways/superpathways are Metabolism and Gene Expression. The drugs leucovorin and Iron have been mentioned in the context of this disorder. Affiliated tissues include liver, bone marrow and bone, and related phenotypes are Decreased viability and Decreased viability

Wikipedia : 74 The term macrocytic is from Greek words meaning "large cell". A macrocytic class of anemia is an anemia... more...

Sources

Related Diseases for Macrocytic Anemia

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Diseases related to Macrocytic Anemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 153)
# Related Disease Score Top Affiliating Genes
1 chromosome 5q deletion syndrome 34.0 RPS28 RPS14
2 diamond-blackfan anemia 1 32.7 RPS19 RPL5
3 diamond-blackfan anemia 15 with mandibulofacial dysostosis 32.2 TSR2 RPS28 RPS26
4 anemia, x-linked, with or without neutropenia and/or platelet abnormalities 31.8 RPS19 ALAS2
5 pure red-cell aplasia 30.4 RPS26 RPS19 RPS17 RPL35A
6 diamond-blackfan anemia 28.2 TSR2 RPS29 RPS28 RPS27 RPS26 RPS24
7 combined oxidative phosphorylation deficiency 18 11.7
8 megaloblastic anemia 11.6
9 microcytic anemia 11.6
10 anemia, congenital dyserythropoietic, type ia 11.5
11 diamond-blackfan anemia 3 11.4
12 diamond-blackfan anemia 4 11.4
13 diamond-blackfan anemia 5 11.4
14 diamond-blackfan anemia 6 11.4
15 diamond-blackfan anemia 7 11.4
16 diamond-blackfan anemia 8 11.4
17 diamond-blackfan anemia 9 11.4
18 diamond-blackfan anemia 10 11.4
19 diamond-blackfan anemia 11 11.4
20 diamond-blackfan anemia 12 11.4
21 anemia, congenital dyserythropoietic, type ib 11.4
22 anemia, congenital dyserythropoietic, type iii 11.2
23 overhydrated hereditary stomatocytosis 11.2
24 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.2
25 diamond-blackfan anemia 2 11.2
26 diamond-blackfan anemia 13 11.2
27 diamond-blackfan anemia 16 11.2
28 diamond-blackfan anemia 17 11.2
29 diamond-blackfan anemia 18 11.2
30 diamond-blackfan anemia 19 11.2
31 diamond-blackfan anemia 20 11.2
32 deficiency anemia 11.1
33 pernicious anemia 10.7
34 myelodysplastic syndrome 10.5
35 vitamin b12 deficiency 10.5
36 hypothyroidism 10.4
37 iron metabolism disease 10.4
38 hemolytic anemia 10.4
39 alcohol dependence 10.3
40 liver disease 10.3
41 dyskeratosis congenita, x-linked 10.3 RPS19 RPL5
42 acute leukemia 10.3
43 thrombocytopenia 10.3
44 thrombocytosis 10.3
45 gastritis 10.3
46 tropical sprue 10.2
47 acute erythroid leukemia 10.2
48 orofacial cleft 10.2 RPS19 RPL5 RPL35A RPL11
49 pierre robin syndrome 10.2 RPL27 RPL26 RPL15 RPL11
50 aplastic anemia 10.1

Graphical network of the top 20 diseases related to Macrocytic Anemia:



Diseases related to Macrocytic Anemia
Sources

Symptoms & Phenotypes for Macrocytic Anemia

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GenomeRNAi Phenotypes related to Macrocytic Anemia according to GeneCards Suite gene sharing:

26 (show all 27)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00106-A-0 11.11 RPL5 RPS14 RPS17 RPS19 RPS29
2 Decreased viability GR00240-S-1 11.11 RPL15 RPL26 RPS14 RPS28
3 Decreased viability GR00249-S 11.11 ALAS2 RPL11 RPL27 RPL35A RPS10 RPS14
4 Decreased viability GR00381-A-1 11.11 CDIN1 RPL11 RPL15 RPL27 RPL35A RPS14
5 Decreased viability GR00386-A-1 11.11 RPL11 RPL15 RPL26 RPL27 RPL35A RPL5
6 Decreased viability GR00402-S-2 11.11 CDIN1 RPL11 RPL15 RPL26 RPL27 RPL35A
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.21 RPS17
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.21 RPS17
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-126 10.21 RPS29
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 10.21 RPS17
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-159 10.21 RPS17
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.21 RPS17
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 10.21 RPS17
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-168 10.21 RPS19
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-206 10.21 RPS17
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-3 10.21 RPS29
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-37 10.21 RPS17
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-41 10.21 RPS17
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.21 RPS17
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.21 RPS17
21 Decreased Hepatitis C virus replication GR00180-A-1 9.88 RPS14 RPS19 RPS24 RPS26 RPS28 RPS29
22 Cytoplasmic 40S maturation defects GR00209-A-2 9.76 RPS10 RPS17 RPS26 RPS29
23 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.76 RPL11 RPL15 RPL27 RPL35A RPS17 RPS19
24 Decreased cell number GR00303-A 9.73 RPL11 RPL5 RPS19 RPS29
25 HIV Rev nuclear localization GR00247-A-3 9.43 RPL11 RPL15 RPS24
26 Nuclear 60S biogenesis defects GR00209-A-3 9.35 RPL11 RPL26 RPL27 RPL35A RPL5
27 S arrest GR00098-A-2 9.17 RPL11 RPL27 RPL35A RPS19 RPS24 RPS26
Sources

Drugs & Therapeutics for Macrocytic Anemia

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Drugs for Macrocytic Anemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 2 58-05-9 6006 143
2
Iron Approved, Experimental Phase 1, Phase 2 15438-31-0, 7439-89-6 27284 23925
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4 Vitamins Phase 2
5 Micronutrients Phase 2
6 Antidotes Phase 2
7 Vitamin B Complex Phase 2
8 Folate Phase 2
9 Nutrients Phase 2
10 Protective Agents Phase 2
11 Trace Elements Phase 2
12 Vitamin B9 Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Experimental Treatment of Transfusion Dependent 5q Minus Syndrome With Leucovorin Completed NCT00004997 Phase 2 Leucovorin
2 Treatment of Refractory Diamond-Blackfan Anemia With Eltrombopag Recruiting NCT04269889 Phase 1, Phase 2 Eltrombopag
3 Assessment of Nutritional Consequences of Sleeve Gastrectomy Unknown status NCT01475903

Search NIH Clinical Center for Macrocytic Anemia

Cochrane evidence based reviews: anemia, macrocytic

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Genetic Tests for Macrocytic Anemia

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Genetic tests related to Macrocytic Anemia:

# Genetic test Affiliating Genes
1 Macrocytic Anemia 29
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Anatomical Context for Macrocytic Anemia

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MalaCards organs/tissues related to Macrocytic Anemia:

40
Liver, Bone Marrow, Bone, Testes, Small Intestine, Myeloid, Thyroid
Sources

Publications for Macrocytic Anemia

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Articles related to Macrocytic Anemia:

(show top 50) (show all 765)
# Title Authors PMID Year
1
Ribosomopathies: human disorders of ribosome dysfunction. 61 54
20194897 2010
2
Combined megaloblastic and immunohemolytic anemia associated--a case report. 61 54
19388472 2008
3
Identification of a new in-frame deletion of six amino acids in ribosomal protein S19 in a patient with Diamond-Blackfan anemia. 61 54
16531079 2006
4
Impact of HLA-H mutations on iron stores in healthy elderly men and women. 54 61
9410471 1997
5
The molecular basis of the sideroblastic anemias. 54 61
9372069 1996
6
The effects on hematopoiesis of recombinant stem cell factor (ligand for c-kit) administered in vivo to mice either alone or in combination with granulocyte colony-stimulating factor. 61 54
1714329 1991
7
Tumor development in rats and cancer cachexia are reduced by treatment with botryosphaeran by increasing apoptosis and improving the metabolic profile. 61
32289434 2020
8
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency. 61
32543069 2020
9
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
10
Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Ring Sideroblasts and Thrombocytosis with Cooccurrent SF3B1 and MPL Gene Mutations: A Case Report and Brief Review of the Literature. 61
31858134 2020
11
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. 61
30933022 2020
12
THE CLINICAL SPECTRUM OF RESISTANCE TO THYROID HORMONE ΑLPHA IN CHILDREN AND ADULTS. 61
32349464 2020
13
Distribution of hemoglobin levels and prevalence of anemia according to sex, age group, and region in 13 Korean cities. 61
32048801 2020
14
Type of Anemia, Chronic Non-cardiovascular Illnesses, and Outcomes of Patients with ST-segment Elevation Myocardial Infarction. 61
32374259 2020
15
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2020
16
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with iron deficiency. 61
32256999 2020
17
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2020
18
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with vitamin B12 deficiency. 61
32256998 2020
19
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 61
32293259 2020
20
Severe megaloblastic anemia: Vitamin deficiency and other causes. 61
32127439 2020
21
Diamond-Blackfan Anemia: 2 Cases With a Twist. 61
32118814 2020
22
Profile of anemia in acute lymphoblastic leukemia patients on maintenance therapy and the effect of micronutrient supplementation. 61
31134344 2020
23
Screening for Anemia in Children with Down Syndrome. 61
31593027 2020
24
Prevalence of anemia and its relationship with neurological status in patients undergoing surgery for degenerative cervical myelopathy and radiculopathy: A retrospective study of 2 spine centers. 61
31911107 2020
25
Human radical scavenger α1-microglobulin protects against hemolysis in vitro and α1-microglobulin knockout mice exhibit a macrocytic anemia phenotype. 61
32092412 2020
26
Cytogenetic Findings in a Case of Blastic Plasmacytoid Dendritic Cell Neoplasm (BPDCN). 61
32161188 2020
27
Factors affecting occurrence of demodecosis by Demodex bovis in Sindhi cattle (Bos indicus). 61
31975182 2020
28
[Identification of the target molecule of autoantibodies in acquired autoimmune hemolytic anemia]. 61
32507814 2020
29
Successful Treatment of Hereditary Folate Malabsorption With Intramuscular Folinic Acid. 61
31371121 2020
30
Anemia, hematinic deficiencies, and gastric parietal cell antibody positivity in atrophic glossitis patients with or without hyperhomocysteinemia. 61
31444017 2020
31
Double Robertsonian translocations in an infertile patient with macrocytic anemia: a case report. 61
32322307 2020
32
Therapy-Related Acute Myeloid Leukemia 2 Months after Chemoradiotherapy for Esophageal Cancer: A Case Report. 61
32308595 2020
33
P2X1 ion channel deficiency causes massive bleeding in inflamed intestine and increases thrombosis. 61
31448510 2020
34
A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia. 61
31844630 2019
35
Severe Cobalamin Deficiency Disguised as Schistocytes: A Case Report. 61
31734686 2019
36
Crude extract of cyanobacterium Radiocystis fernandoi strain R28 induces anemia and oxidative stress in fish erythrocytes. 61
31421159 2019
37
Noncommunicable Diseases Burden and Risk Factors in a Cohort of HIV+ Elderly Patients in Malawi. 61
31468993 2019
38
The doctor who stared at schistocytes: an intriguing case of suspected thrombotic microangiopathic anemia. 61
31667698 2019
39
Does aging have an impact on hemoglobin? Study in elderly population at rural teaching hospital. 61
31742166 2019
40
MMP9 inhibition increases erythropoiesis in RPS14-deficient del(5q) MDS models through suppression of TGF-β pathways. 61
31540902 2019
41
Laurence-Moon-Bardet-Biedl Syndrome: A Case Report. 61
31696011 2019
42
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. 61
31350873 2019
43
Bone marrow adipose tissue-derived stem cell factor mediates metabolic regulation of hematopoiesis. 61
30792196 2019
44
Prenatal onset of mitochondrial disease is associated with sideroflexin 4 deficiency. 61
31059822 2019
45
The splicing factor Sf3b1 regulates erythroid maturation and proliferation via TGFβ signaling in zebrafish. 61
31300417 2019
46
Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient. 61
31277601 2019
47
ZRSR2 mutation in a child with refractory macrocytic anemia and Down Syndrome. 61
31361176 2019
48
NUP98-HBO1-fusion generates phenotypically and genetically relevant chronic myelomonocytic leukemia pathogenesis. 61
30944097 2019
49
Roles of folate in skeletal muscle cell development and functions. 61
30599056 2019
50
Evolution of Anemia Types During Antiretroviral Therapy-Implications for Treatment Outcomes and Quality of Life Among HIV-Infected Adults. 61
30935133 2019
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Variations for Macrocytic Anemia

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ClinVar genetic disease variations for Macrocytic Anemia:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TERT NM_198253.3(TERT):c.2812C>T (p.Arg938Trp)SNV Likely pathogenic 916674 5:1264550-1264550 5:1264435-1264435
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Expression for Macrocytic Anemia

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Search GEO for disease gene expression data for Macrocytic Anemia.
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Pathways for Macrocytic Anemia

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Pathways related to Macrocytic Anemia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism 65
Show member pathways
 14.01 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
2
Gene Expression 65
Show member pathways
 13.71 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3
Metabolism of proteins 65
Show member pathways
 13.67 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
4
Viral mRNA Translation 65
Show member pathways
 13.6 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
5
HIV Life Cycle 65
Show member pathways
 13.43 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
6
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.63 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
7
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S 65
Show member pathways
 12.29 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
8
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.14 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
Sources

GO Terms for Macrocytic Anemia

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Cellular components related to Macrocytic Anemia according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.31 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 nucleoplasm GO:0005654 10.27 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3 extracellular exosome GO:0070062 10.18 RPS29 RPS28 RPS26 RPS19 RPS14 RPL5
4 focal adhesion GO:0005925 9.95 RPS29 RPS19 RPS17 RPS14 RPS10 RPL5
5 rough endoplasmic reticulum GO:0005791 9.76 RPS29 RPS28 RPS26 RPL27
6 polysomal ribosome GO:0042788 9.67 RPS29 RPS28 RPS26 RPL11
7 cytosolic large ribosomal subunit GO:0022625 9.63 RPL5 RPL35A RPL27 RPL26 RPL15 RPL11
8 small ribosomal subunit GO:0015935 9.62 RPS29 RPS28 RPS26 RPS24
9 cytosolic small ribosomal subunit GO:0022627 9.61 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
10 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.56 RPS29 RPS28 RPS26 RPL27
11 ribosome GO:0005840 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19

Biological processes related to Macrocytic Anemia according to GeneCards Suite gene sharing:

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 viral transcription GO:0019083 10.2 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 rRNA processing GO:0006364 10.15 TSR2 RPS28 RPS27 RPS24 RPS19 RPS17
3 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.13 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
4 translational initiation GO:0006413 10.03 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
5 cytoplasmic translation GO:0002181 9.95 RPS29 RPS28 RPS26 RPL35A RPL26 RPL15
6 ribosomal small subunit assembly GO:0000028 9.83 RPS28 RPS27 RPS19 RPS14 RPS10
7 translation GO:0006412 9.83 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
8 erythrocyte differentiation GO:0030218 9.8 RPS19 RPS14 CDIN1 ALAS2
9 ribosomal large subunit biogenesis GO:0042273 9.78 RPL5 RPL35A RPL26 RPL11
10 ribosomal small subunit biogenesis GO:0042274 9.76 RPS28 RPS24 RPS19 RPS17
11 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.7 TSR2 RPS19 RPS14
12 maturation of SSU-rRNA GO:0030490 9.69 RPS28 RPS19 RPS14
13 ribosomal large subunit assembly GO:0000027 9.58 RPL5 RPL11
14 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.57 RPL5 RPL11
15 erythrocyte homeostasis GO:0034101 9.56 RPS24 RPS17
16 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL5 RPL11
17 negative regulation of protein neddylation GO:2000435 9.54 RPL5 RPL11
18 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19

Molecular functions related to Macrocytic Anemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.83 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 structural constituent of ribosome GO:0003735 9.5 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3 mRNA 5'-UTR binding GO:0048027 9.33 RPS14 RPL5 RPL26
4 5S rRNA binding GO:0008097 9.32 RPL5 RPL11
5 ubiquitin ligase inhibitor activity GO:1990948 9.26 RPL5 RPL11
Sources

Sources for Macrocytic Anemia

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 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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