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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 44 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 44 D000748
NCIt 50 C34381
SNOMED-CT 67 83414005
UMLS 71 C0002886
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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 anemia, congenital dyserythropoietic, type ib. An important gene associated with Macrocytic Anemia is TERT (Telomerase Reverse Transcriptase), and among its related pathways/superpathways are Metabolism and Viral mRNA Translation. The drugs leucovorin and Levoleucovorin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, small intestine and skin, 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...

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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 157)
# Related Disease Score Top Affiliating Genes
1 chromosome 5q deletion syndrome 32.9 RPS28 RPS14
2 anemia, congenital dyserythropoietic, type ib 32.0 CDIN1 CDAN1
3 diamond-blackfan anemia 1 32.0 RPS24 RPS19 RPS10 RPL5 RPL11
4 diamond-blackfan anemia 15 with mandibulofacial dysostosis 31.9 RPS28 RPS26
5 anemia, congenital dyserythropoietic, type iii 31.9 CDIN1 CDAN1
6 deficiency anemia 31.4 TCN2 RPS26 RPS19 RPL11 CDAN1 ALAS2
7 pure red-cell aplasia 30.2 RPS26 RPS19 RPS17 RPL35A
8 diamond-blackfan anemia 28.7 TERT RPS29 RPS28 RPS27 RPS26 RPS24
9 anemia, congenital dyserythropoietic, type ia 11.3
10 megaloblastic anemia 11.2
11 combined oxidative phosphorylation deficiency 18 11.2
12 diamond-blackfan anemia 3 11.2
13 diamond-blackfan anemia 4 11.2
14 diamond-blackfan anemia 5 11.2
15 diamond-blackfan anemia 6 11.2
16 diamond-blackfan anemia 7 11.2
17 diamond-blackfan anemia 8 11.2
18 diamond-blackfan anemia 9 11.2
19 diamond-blackfan anemia 10 11.2
20 diamond-blackfan anemia 11 11.2
21 diamond-blackfan anemia 12 11.2
22 microcytic anemia 11.1
23 overhydrated hereditary stomatocytosis 11.0
24 diamond-blackfan anemia 14 with mandibulofacial dysostosis 11.0
25 vexas syndrome 11.0
26 diamond-blackfan anemia 2 11.0
27 diamond-blackfan anemia 13 11.0
28 diamond-blackfan anemia 16 11.0
29 diamond-blackfan anemia 17 11.0
30 diamond-blackfan anemia 18 11.0
31 diamond-blackfan anemia 19 11.0
32 diamond-blackfan anemia 20 11.0
33 pernicious anemia 10.5
34 vitamin b12 deficiency 10.4
35 myelodysplastic syndrome 10.3
36 iron metabolism disease 10.3
37 hypothyroidism 10.3
38 hemolytic anemia 10.3
39 pierre robin syndrome 10.3 RPL26 RPL15 RPL11
40 thrombocytosis 10.2
41 gastritis 10.2
42 anemia, congenital dyserythropoietic, type ii 10.2 CDIN1 CDAN1
43 dyskeratosis congenita, x-linked 10.2 TERT RPS19 RPL5
44 alcohol dependence 10.2
45 acute erythroid leukemia 10.2
46 tropical sprue 10.2
47 acute leukemia 10.2
48 thrombocytopenia 10.2
49 liver disease 10.2
50 liver cirrhosis 10.2

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



Diseases related to Macrocytic Anemia
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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 11.09 RPL5 RPS14 RPS17 RPS19 RPS29
2 Decreased viability GR00240-S-1 11.09 RPL15 RPL26 RPS14 RPS28
3 Decreased viability GR00249-S 11.09 ALAS2 RPL11 RPL35A RPS10 RPS14 RPS17
4 Decreased viability GR00381-A-1 11.09 CDAN1 CDIN1 RPL11 RPL15 RPL35A RPS14
5 Decreased viability GR00386-A-1 11.09 RPL11 RPL15 RPL26 RPL35A RPL5 RPS10
6 Decreased viability GR00402-S-2 11.09 CDIN1 RPL11 RPL15 RPL26 RPL35A RPL5
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 Decreased cell number GR00303-A 9.73 RPL11 RPL5 RPS19 RPS29
24 Negative genetic interaction between KRASG13D/+ and KRAS+/- GR00255-A-5 9.7 RPL11 RPL15 RPL35A RPS17 RPS19 RPS26
25 HIV Rev nuclear localization GR00247-A-3 9.43 RPL11 RPL15 RPS24
26 Nuclear 60S biogenesis defects GR00209-A-3 9.26 RPL11 RPL26 RPL35A RPL5
27 S arrest GR00098-A-2 9.1 RPL11 RPL35A RPS19 RPS24 RPS26 RPS29
Sources

Drugs & Therapeutics for Macrocytic Anemia

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

(show all 23)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
leucovorin Approved Phase 2 58-05-9 6006
2
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
3
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
4 Vitamin B Complex Phase 2
5 Micronutrients Phase 2
6 Trace Elements Phase 2
7 Vitamins Phase 2
8 Folate Phase 2
9 Vitamin B9 Phase 2
10 Nutrients Phase 2
11 Protective Agents Phase 2
12 Antidotes Phase 2
13
Neostigmine Approved, Vet_approved 59-99-4 4456
14
Methylcobalamin Approved, Investigational 13422-55-4
15
Ethanol Approved 64-17-5 702
16
Hydroxocobalamin Approved 13422-51-0 11953898 15589840
17
Cyanocobalamin Approved, Nutraceutical 68-19-9 44176380
18
Cobalamin Experimental 13408-78-1 6857388
19 Pharmaceutical Solutions
20 Hematinics
21 Vitamin B 12
22 Vitamin B12
23
Glycopyrrolate 596-51-0 3494

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 Novel Skin Preparation Approaches for Transdermal Delivery by Iontophoresis of a Low Molecular Weight, Positively Charged Compound (Vitamin B12) to the Systemic Circulation Completed NCT04027959

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
Bone Marrow, Small Intestine, Skin, Myeloid, Thyroid, Breast, Spinal Cord
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Publications for Macrocytic Anemia

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Articles related to Macrocytic Anemia:

(show top 50) (show all 794)
# 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. 54 61
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. 54 61
1714329 1991
7
Stathmin 1 deficiency induces erythro-megakaryocytic defects leading to macrocytic anemia and thrombocythemia in Stathmin 1 knock out mice. 61
33260083 2021
8
Potential contributors to low dose methotrexate toxicity in a patient with rheumatoid arthritis and pernicious anemia: case report. 61
33573706 2021
9
Human radical scavenger α1-microglobulin protects against hemolysis in vitro and α1-microglobulin knockout mice exhibit a macrocytic anemia phenotype. 61
32092412 2021
10
Combined sclerosis of the spinal cord revealing Biermer's anemia: about a case. 61
33480010 2020
11
[Iron deficiency in adults : to understand what biological evaluation should be carried out]. 61
33331703 2020
12
Botryosphaeran, a (1 â†’ 3)(1 â†’ 6)-β-D-glucan, reduces tumor development and cachexia syndrome in obese male rats by increasing insulin sensitivity and FOXO3a activity. 61
32991890 2020
13
Test utilization for the diagnosis of vitamin B12 and folate deficiency in local clinics in Korea. 61
33156552 2020
14
Bcor deficiency perturbs erythro-megakaryopoiesis and cooperates with Dnmt3a loss in acute erythroid leukemia onset in mice. 61
33159179 2020
15
Treatable Cause of Pancytopenia, Recurrent Infections and Refractory Epilepsy: Secondary to Hereditary Folate Malabsorption (HFM) Due to Novel Pathogenic Variant. 61
33146883 2020
16
AA amyloidosis associated with morbid obesity (clinical case). 61
30527964 2020
17
Hematologic presentation and the role of untargeted metabolomics analysis in monitoring treatment for riboflavin transporter deficiency. 61
32909658 2020
18
Clinical Manifestations of Copper Deficiency: A Case Report and Review of the Literature. 61
33037701 2020
19
Pyoderma gangrenosum in a cesarean section wound in a woman with myelodysplastic syndrome: A case report. 61
32963967 2020
20
Prevalence of left ventricular hypertrabeculation/noncompaction among patients with congenital dyserythropoietic anemia Type 1 (CDA1). 61
32512057 2020
21
Atezolizumab-induced hemolytic anemia - A case report. 61
32951522 2020
22
The Role of α1-Microglobulin (A1M) in Erythropoiesis and Erythrocyte Homeostasis-Therapeutic Opportunities in Hemolytic Conditions. 61
33008134 2020
23
Van Wyk-Grumbach syndrome and oligosyndactyly in a 6-year-old girl: a case report. 61
32933589 2020
24
Enhancing mitochondrial function in vivo rescues MDS-like anemia induced by pRb deficiency. 61
32629063 2020
25
[Related factors of atrophic glossitis in 124 consecutive cases]. 61
33089295 2020
26
Clinical Appropriateness of Serum Folate ordering pattern in a tertiary care hospital in Saudi Arabia. 61
32792834 2020
27
Factors affecting occurrence of demodecosis by Demodex bovis in Sindhi cattle (Bos indicus). 61
31975182 2020
28
Case Report: Nutritional and Toxic Optic Neuropathy: A Diagnostic Dilemma. 61
32697552 2020
29
Tumor development in rats and cancer cachexia are reduced by treatment with botryosphaeran by increasing apoptosis and improving the metabolic profile. 61
32289434 2020
30
A Case of Valproate-Induced Hyperammonemic Encephalopathy. 61
32789057 2020
31
Coexistence of diverse heavy metal pollution magnitudes: Health risk assessment of affected cattle and human population in some rural regions, Qena, Egypt. 61
32607368 2020
32
An Exceedingly Rare Presentation of Severe Folate Deficiency-Induced Non-Immune Hemolytic Anemia. 61
32670706 2020
33
Laboratory approach to investigation of anemia with a focus on pyruvate kinase deficiency. 61
32543069 2020
34
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
35
A Novel Deletion in the RPL5 Gene in a Lebanese Child With Diamond Blackfan Anemia Unresponsive to Steroid Treatment. 61
30933022 2020
36
Distribution of hemoglobin levels and prevalence of anemia according to sex, age group, and region in 13 Korean cities. 61
32048801 2020
37
Type of Anemia, Chronic Non-cardiovascular Illnesses, and Outcomes of Patients with ST-segment Elevation Myocardial Infarction. 61
32374259 2020
38
Anemia, hematinic deficiencies, hyperhomocysteinemia, and serum gastric parietal cell antibody positivity in 884 patients with burning mouth syndrome. 61
31679908 2020
39
THE CLINICAL SPECTRUM OF RESISTANCE TO THYROID HORMONE ΑLPHA IN CHILDREN AND ADULTS. 61
32349464 2020
40
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with vitamin B12 deficiency. 61
32256998 2020
41
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in burning mouth syndrome patients with iron deficiency. 61
32256999 2020
42
Anemia, hematinic deficiencies, hyperhomocysteinemia, and gastric parietal cell antibody positivity in atrophic glossitis patients with vitamin B12 deficiency. 61
31630933 2020
43
Characterization of the interactions between Codanin-1 and C15Orf41, two proteins implicated in congenital dyserythropoietic anemia type I disease. 61
32293259 2020
44
Severe megaloblastic anemia: Vitamin deficiency and other causes. 61
32127439 2020
45
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
46
Screening for Anemia in Children with Down Syndrome. 61
31593027 2020
47
Diamond-Blackfan Anemia: 2 Cases With a Twist. 61
32118814 2020
48
Profile of anemia in acute lymphoblastic leukemia patients on maintenance therapy and the effect of micronutrient supplementation. 61
31134344 2020
49
[Identification of the target molecule of autoantibodies in acquired autoimmune hemolytic anemia]. 61
32507814 2020
50
Dietary patterns and anemia morphology in young men and women in Shandong province, China. 61
32990611 2020
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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
 13.99 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
2
Viral mRNA Translation 65
Show member pathways
 13.69 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3
Gene Expression 65
Show member pathways
 13.65 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
4
Metabolism of proteins 65
Show member pathways
 13.59 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
5
HIV Life Cycle 65
Show member pathways
 13.5 TCN2 RPS29 RPS28 RPS27 RPS26 RPS24
6
rRNA processing in the nucleus and cytosol 65
Show member pathways
 12.6 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
 12.19 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
8
Influenza Viral RNA Transcription and Replication 65
Show member pathways
 12.11 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 12)
# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 10.27 TERT RPS29 RPS28 RPS27 RPS26 RPS24
2 nucleoplasm GO:0005654 10.25 TERT RPS29 RPS28 RPS27 RPS26 RPS24
3 extracellular exosome GO:0070062 10.13 RPS29 RPS28 RPS26 RPS19 RPS14 RPL5
4 nucleolus GO:0005730 10.05 TERT RPS19 RPS14 RPS10 RPL5 RPL26
5 focal adhesion GO:0005925 9.93 RPS29 RPS19 RPS17 RPS14 RPS10 RPL5
6 rough endoplasmic reticulum GO:0005791 9.67 RPS29 RPS28 RPS26
7 polysomal ribosome GO:0042788 9.62 RPS29 RPS28 RPS26 RPL11
8 cytosolic small ribosomal subunit GO:0022627 9.61 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
9 cytoplasmic side of rough endoplasmic reticulum membrane GO:0098556 9.58 RPS29 RPS28 RPS26
10 small ribosomal subunit GO:0015935 9.56 RPS29 RPS28 RPS26 RPS24
11 cytosolic large ribosomal subunit GO:0022625 9.55 RPL5 RPL35A RPL26 RPL15 RPL11
12 ribosome GO:0005840 9.47 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 10.17 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
2 SRP-dependent cotranslational protein targeting to membrane GO:0006614 10.1 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
3 rRNA processing GO:0006364 10.07 RPS28 RPS27 RPS24 RPS19 RPS17 RPS14
4 translational initiation GO:0006413 10 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 erythrocyte differentiation GO:0030218 9.8 RPS19 RPS14 CDIN1 ALAS2
8 translation GO:0006412 9.8 RPS29 RPS28 RPS27 RPS26 RPS24 RPS19
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 GO:0030490 9.69 RPS28 RPS19 RPS14
12 maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) GO:0000462 9.58 RPS19 RPS14
13 ribosomal large subunit assembly GO:0000027 9.57 RPL5 RPL11
14 negative regulation of ubiquitin-dependent protein catabolic process GO:2000059 9.56 RPL5 RPL11
15 negative regulation of ubiquitin protein ligase activity GO:1904667 9.55 RPL5 RPL11
16 erythrocyte homeostasis GO:0034101 9.54 RPS24 RPS17
17 negative regulation of protein neddylation GO:2000435 9.52 RPL5 RPL11
18 nuclear-transcribed mRNA catabolic process, nonsense-mediated decay GO:0000184 9.47 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 TERT RPS29 RPS28 RPS27 RPS26 RPS24
2 structural constituent of ribosome GO:0003735 9.47 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
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-Mar-2021)
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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