MCID: VTM002
MIFTS: 48

Vitamin B12 Deficiency

Categories: Blood diseases, Metabolic diseases

Aliases & Classifications for Vitamin B12 Deficiency

MalaCards integrated aliases for Vitamin B12 Deficiency:

Name: Vitamin B12 Deficiency 12 55 15
Cobalamin Deficiency 12 29 6
Vitamin B 12 Deficiency 73
Hypocobalaminemia 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0050731
UMLS 73 C0042847

Summaries for Vitamin B12 Deficiency

Disease Ontology : 12 A vitamin metabolic disorder that results from low blood levels of vitamin B12.

MalaCards based summary : Vitamin B12 Deficiency, also known as cobalamin deficiency, is related to pernicious anemia and transcobalamin ii deficiency. An important gene associated with Vitamin B12 Deficiency is AMN (Amnion Associated Transmembrane Protein), and among its related pathways/superpathways are Metabolism and Metabolism of water-soluble vitamins and cofactors. The drugs Hydroxocobalamin and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and testes, and related phenotypes are Increased shRNA abundance and homeostasis/metabolism

Wikipedia : 76 Vitamin B12 deficiency, also known as cobalamin deficiency, is the medical condition of low blood levels... more...

Related Diseases for Vitamin B12 Deficiency

Diseases related to Vitamin B12 Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 206)
# Related Disease Score Top Affiliating Genes
1 pernicious anemia 33.2 TCN1 TCN2
2 transcobalamin ii deficiency 32.3 MTHFR MTR TCN1 TCN2
3 megaloblastic anemia 31.7 AMN MTHFR MTR TCN1 TCN2
4 iron metabolism disease 30.6 EPO TF
5 deficiency anemia 30.6 EPO PON1 TF
6 iron deficiency anemia 30.2 EPO TF
7 homocystinuria 30.2 MTHFR MTR TCN2
8 neural tube defects, folate-sensitive 30.1 MTHFR MTR
9 hemoglobin h disease 29.9 EPO TF
10 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 29.9 MTHFR MTR TCN2
11 megaloblastic anemia 1 11.7
12 congenital intrinsic factor deficiency 11.6
13 atrophic gastritis 11.5
14 diphyllobothriasis 11.2
15 blind loop syndrome 11.2
16 autoimmune atrophic gastritis 11.2
17 bothriocephalosis 11.2
18 neuropathy 10.6
19 pancytopenia 10.4
20 dementia 10.4
21 peripheral nervous system disease 10.4
22 diabetes mellitus 10.4
23 optic nerve disease 10.4
24 diabetes mellitus, noninsulin-dependent 10.3
25 multiple sclerosis 10.2
26 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.2 MTHFR MTR
27 phenylketonuria 10.2
28 thrombotic thrombocytopenic purpura 10.2
29 purpura 10.2
30 gastritis 10.2
31 ariboflavinosis 10.2 MTHFR TF
32 acquired polycythemia 10.2 EPO TF
33 adult acute lymphocytic leukemia 10.2 MTHFR MTR
34 folic acid deficiency anemia 10.2 EPO TF
35 plethora of newborn 10.2 EPO TF
36 pure red-cell aplasia 10.2 EPO TF
37 crohn's disease 10.2
38 thrombosis 10.2
39 amino acid metabolic disorder 10.2 MTHFR MTR
40 central nervous system lymphoma 10.1 MTR TCN2
41 west syndrome 10.1
42 hemolytic anemia 10.1
43 choreatic disease 10.1
44 glossitis 10.1
45 intestinal disease 10.1
46 lipoid nephrosis 10.1 CD79A TF
47 nutritional deficiency disease 10.1 EPO MTHFR TF
48 kwashiorkor 10.1 GPT TF
49 cerebrovascular disease 10.1 MTHFR MTR PON1
50 vascular disease 10.1 MTHFR MTR PON1

Graphical network of the top 20 diseases related to Vitamin B12 Deficiency:



Diseases related to Vitamin B12 Deficiency

Symptoms & Phenotypes for Vitamin B12 Deficiency

GenomeRNAi Phenotypes related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance GR00327-A 8.92 CD79A EPO MTHFR MTR

MGI Mouse Phenotypes related to Vitamin B12 Deficiency:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.23 ACADVL CD79A CGA EPO MTHFR MTR

Drugs & Therapeutics for Vitamin B12 Deficiency

Drugs for Vitamin B12 Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 81)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydroxocobalamin Approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13422-51-0 11953898 44475014
2
Methylcobalamin Approved, Experimental, Investigational Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13422-55-4
3
Iron Approved Phase 4,Not Applicable 7439-89-6 23925
4
Omeprazole Approved, Investigational, Vet_approved Phase 4,Not Applicable 73590-58-6 4594
5
Tocopherol Approved, Investigational Phase 4 1406-66-2 14986
6
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 11103-57-4, 68-26-8 445354
7
Folic Acid Approved, Nutraceutical, Vet_approved Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 59-30-3 6037
8
Cyanocobalamin Approved, Nutraceutical Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 68-19-9 44176380
9
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
10
Pyridoxine Approved, Investigational, Nutraceutical, Vet_approved Phase 4,Phase 3,Not Applicable 65-23-6 1054
11
Thiamine Approved, Investigational, Nutraceutical, Vet_approved Phase 4 59-43-8, 70-16-6 1130
12
Cobalamin Experimental Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1 13408-78-1 6438156
13 Tocotrienol Investigational Phase 4 6829-55-6
14 Trace Elements Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
15 Micronutrients Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
16 Vitamins Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
17 Vitamin B9 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
18 Retinol palmitate Phase 4
19 Vitamin B 12 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
20 Vitamin B Complex Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
21 Folate Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
22 retinol Phase 4
23 Hematinics Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
24 Vitamin B12 Phase 4,Phase 2,Phase 3,Not Applicable,Early Phase 1
25 Antacids Phase 4
26 Anti-Ulcer Agents Phase 4
27 Proton Pump Inhibitors Phase 4,Not Applicable
28 Gastrointestinal Agents Phase 4
29 Tocopherols Phase 4
30 Tocotrienols Phase 4
31 Antioxidants Phase 4,Phase 2
32 Protective Agents Phase 4
33 Vitamin B 6 Phase 4,Phase 3,Not Applicable
34 Thiamin Phase 4
35
Pyridoxal Experimental, Nutraceutical Phase 4,Phase 3,Not Applicable 66-72-8 1050
36
leucovorin Approved Phase 2, Phase 3,Phase 3,Not Applicable 58-05-9 6006 143
37
Levodopa Approved Phase 2, Phase 3 59-92-7 6047
38 Vaccines Phase 2, Phase 3
39 Ubiquinone Phase 2
40
Metformin Approved ,Not Applicable 657-24-9 14219 4091
41
Acetylcysteine Approved, Investigational 616-91-1 12035
42
Nitrous oxide Approved, Vet_approved Not Applicable 10024-97-2 948
43
Quinidine Approved, Investigational 56-54-2 441074
44
Memantine Approved, Investigational 19982-08-2 4054
45
Dextromethorphan Approved 125-71-3 5360696 5362449
46
Vitamin D Approved, Nutraceutical, Vet_approved ,Not Applicable 1406-16-2
47
Ergocalciferol Approved, Nutraceutical Not Applicable 50-14-6 5280793
48 Neurotransmitter Uptake Inhibitors Not Applicable
49 Neurotransmitter Agents Not Applicable
50 Psychotropic Drugs Not Applicable

Interventional clinical trials:

(show top 50) (show all 65)
# Name Status NCT ID Phase Drugs
1 Vitamin Deficiencies and Suppletion in Morbid Obesity Unknown status NCT02270749 Phase 4 Hydroxocobalamin;FitForMe vitamin B12
2 How Many Patients Are in Need of Vitamin B12 Injections? Unknown status NCT00326833 Phase 4 vitamin B12
3 Evaluation of the Efficacy in Decreasing Iron Absorption in Patients With Congenital Dyserythropoietic Anemia Type I by Treatment With LOSEC Unknown status NCT01795794 Phase 4 omeprazole
4 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
5 Vitamin B12 Acceptance and Biomarker Response Study Completed NCT01832129 Phase 4 Oral administration of vitamin B12;i.m. injection of vitamin B12
6 Vitamin B12 Supplement to Prevent Cognitive Decline Completed NCT02457507 Phase 4
7 Postoperative Vitamin Supplementation in Morbidly Obese Patient (VITAAL Study) Completed NCT01609387 Phase 4
8 Megadose of Hydroxocobalamin for the Treatment of Pernicious Anemia Recruiting NCT03372447 Phase 4 Hydroxocobalamin 10,000mcg, Thiamin 100mg, Pyridoxine 50mg
9 Vitamin B12 Supplementation During Pregnancy Completed NCT01795131 Phase 2, Phase 3
10 Study of Pylopass Versus Placebo in Subjects Who Are Helicobacter Pylori Carriers and With Mild Indigestion Completed NCT02051348 Phase 2, Phase 3
11 WENBIT - Western Norway B Vitamin Intervention Trial Completed NCT00354081 Phase 3 folic acid, vitamin B12 (cyanocobalamin), vitamin B6 (pyridoxine);folic acid, vitamin B12 (cyanocobalamin);vitamin B6 (pyridoxine);placebo
12 Vitamin B12 Supplementation During Pregnancy on Cognitive Development Recruiting NCT03071666 Phase 2, Phase 3
13 Vitamin B12, Neurodevelopment and Growth in Nepal Active, not recruiting NCT02272842 Phase 2, Phase 3
14 Vitamin B12 Status and Response to Vitamin B12 Supplementation in Patients With Parkinson's Disease Terminated NCT00208611 Phase 2, Phase 3
15 Oral Vitamin B12 Administration for Vitamin B12 Deficiency After Total Gastrectomy Completed NCT00699478 Phase 2 mecobalamin
16 Can Recombinant Human Intrinsic Factor Be Used for Evaluation of the Vitamin B12 Absorption? Completed NCT00279552 Phase 2 Recombinant human intrinsic factor
17 EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment Completed NCT01793090 Phase 2 Epi-743
18 Comparison of Vitamin B12 Supplementation to Selective Serotonin Reuptake Inhibitor (SSRI) Versus SSRI Antidepressant Treatment Alone Unknown status NCT00939718 Not Applicable
19 Resting Energy Expenditure and Nutritional Status in IBD Unknown status NCT02275676
20 Autoantibodies to Gastric Parietal Cells in Rheumatoid Arthritis Patients Completed NCT01876329
21 Long-term Use of Proton Pump Inhibitors May Cause Vitamin B12 Deficiency in the Institutionalized Elderly Completed NCT00843453 Not Applicable treatment (cyanocobalamin nasal spray)
22 Oral/Intramuscular B12 to Treat Cobalamin Deficiency Completed NCT01476007 Not Applicable oral Cobalamin (vitamin B12);intramuscular Cobalamin (vitamin B12)
23 Metformin Use and Vitamin B12 Deficiency Completed NCT01136512
24 Vitamin B12 Supplementation Study Completed NCT00826657 Not Applicable
25 Impact of Vitamin B12 Replacement on Epogen Dosing and Improvement of Quality of Life in Hemodialysis Patients Completed NCT01876732 Not Applicable Vitamin B12
26 Cobalamin Status in Young Children With Gastrointestinal Symptoms or Feeding Problems Completed NCT00710359 Not Applicable
27 Cobalamin Status in Young Children With Developmental Delay Completed NCT00710138 Not Applicable
28 Study to Identify Adequate Biomarker to Detect Vitamin B12 Deficiency in Type 2 Diabetic Patients Treated With Metformin Completed NCT02111967
29 The Association Between Religious Origin and Age, and Vitamin B12 and Folic Acid Plasma Levels in Non Jewish Population in Western Galilee Completed NCT01297361 Not Applicable
30 Cobalamin Supplementation During Infancy; Effect on B-vitamin Status, Growth and Psychomotor Development Completed NCT00479479 Not Applicable Hydroxycobalamin (Vitamin B12 Depot, Nycomed Pharma)
31 Relative Bioavailability of Folic Acid and L-5-Methlytetrahydrofolate Completed NCT01584050 Not Applicable
32 Efficacy and Safety Study of Oral Eligen® B12 in Subjects With Low Serum Cobalamin Completed NCT01312831 Not Applicable
33 Holotranscobalamin Remains Unchanged During Pregnancy Completed NCT00467623
34 Supplementary Vitamin B12 Effects on Elevated Homocysteine Levels of Vegetarians - Clinical Trial Completed NCT01661309 Not Applicable
35 Comparison of Two Pharmacist-led Population Management Approaches to Increase Monitoring of Vitamin B12 and Serum Creatinine Levels for Patients on Metformin Completed NCT02076347 Not Applicable
36 Effect of Toothpaste Fortified With Cyanocobalamin on Vitamin B12 Status Completed NCT02679833 Not Applicable
37 Study of the Association of Muscle Strength, Balance and Other Factors With Vitamin Levels Among Elderly Diabetics Completed NCT03376490
38 Cobalamin Absorption From Fortified Food Completed NCT01399164 Not Applicable
39 Effect of Vitamin B12 Supplementation on Glycaemic Control in Uncontrolled Hyperhomocysteinemic Type 2 Diabetic Patients Completed NCT02540642 Not Applicable
40 Supplementation of Critical Nutrients in a Plant-based Diet Completed NCT03542591
41 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
42 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873 Not Applicable
43 Oral Vitamin B12 Supplementation and Cognitive Performance in Elderly People Completed NCT00111267 Not Applicable
44 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573 Not Applicable
45 NAC-003 P.L.U.S. Program (Progress Through Learning Understanding & Support) Completed NCT01370954
46 The Bread Trial: Effects of Bread Fortified With Folic Acid and Vitamin B12 Completed NCT00353353 Not Applicable
47 Acid Suppressive Therapy - Review of Appropriateness Completed NCT02259270
48 Interaction of Cobalamin Status With Nitrous Oxide in Relation to Postoperative Cognitive Changes in the Elderly Completed NCT00212147 Not Applicable general anesthesia
49 Homocysteine After Laparoscopic Roux-enY Gastric Bypass Completed NCT03489538
50 B Vitamin Status in Premature and Small for Gestational Age(SGA) Infants Completed NCT01201005 Not Applicable

Search NIH Clinical Center for Vitamin B12 Deficiency

Genetic Tests for Vitamin B12 Deficiency

Genetic tests related to Vitamin B12 Deficiency:

# Genetic test Affiliating Genes
1 Cobalamin Deficiency 29

Anatomical Context for Vitamin B12 Deficiency

MalaCards organs/tissues related to Vitamin B12 Deficiency:

41
Heart, Bone, Testes, Tongue, Spinal Cord, Liver, Brain

Publications for Vitamin B12 Deficiency

Articles related to Vitamin B12 Deficiency:

(show top 50) (show all 1230)
# Title Authors Year
1
Vitamin B12 Deficiency and the Role of Gender: A Cross-Sectional Study of a Large Cohort. ( 29597190 )
2018
2
Identification of vitamin B12 deficiency in vegetarian Indians. ( 29446340 )
2018
3
Vitamin B12 deficiency and impaired expression of amnionless during aging. ( 29159972 )
2018
4
Comparison of the efficacy of parenteral and oral treatment for nutritional vitamin B12 deficiency in children. ( 29577819 )
2018
5
Invited commentary in response to: 'Identification of vitamin B12 deficiency in vegetarian Indians'. ( 29661265 )
2018
6
Evaluation of diffusion tensor imaging changes and neurocognitive effects of asymptomatic vitamin B12 deficiency. ( 29663261 )
2018
7
Thrombotic Microangiopathy-Like Hemolysis in Vitamin B12 Deficiency-Related Macrocytic Anemia. ( 29739088 )
2018
8
Vitamin B12 deficiency and clinical laboratory: Lessons revisited and clarified in seven questions. ( 29741251 )
2018
9
The influence of thyroid diseases, diabetes mellitus, primary hyperparathyroidism, vitamin B12 deficiency and other comorbid autoimmune diseases on treatment outcome in patients with rheumatoid arthritis: An exploratory cohort study. ( 29794789 )
2018
10
Factors correlating to the propensity of general practitioners to substitute borderline vitamin B12 deficiency. ( 29933709 )
2018
11
Mixed neuropsychiatric clinical manifestations associated with vitamin B12 deficiency. ( 29886402 )
2018
12
Computer-assisted interventions in the clinical laboratory process improve the diagnosis and treatment of severe vitamin B12 deficiency. ( 29715174 )
2018
13
Evaluation of Vitamin B12 Deficiency and Associated Factors in Patients With Systemic Sclerosis. ( 29384828 )
2018
14
Vitamin B12 Deficiency as a Cause of Neurotrophic Keratopathy. ( 29541277 )
2018
15
CA 15-3 predicting breast cancer relapse: beware of vitamin B12 deficiency. ( 29745746 )
2018
16
Vitamin B12 deficiency associated with hyperbilirubinemia and cholestasis in infants. ( 30034445 )
2018
17
The Evaluation of Ophthalmic Findings in Women Patients With Iron and Vitamin B12 Deficiency Anemia. ( 30159209 )
2018
18
The association of metformin use with vitamin B12 deficiency and peripheral neuropathy in Saudi individuals with type 2 diabetes mellitus. ( 30321183 )
2018
19
Reversible neurogenic dysphagia: A rare presentation of vitamin b12 deficiency. ( 30505958 )
2018
20
The association between serum vitamin B12 deficiency and tension-type headache in Turkish children. ( 29520674 )
2018
21
Neuropathy by folic acid supplementation in a patient with anaemia and an untreated cobalamin deficiency: a case report. ( 29852529 )
2018
22
Vitamin B12 deficiency presenting with hyperpigmentation and pancytopenia. ( 30112325 )
2018
23
Simultaneous pulmonary thromboembolism and superior mesenteric venous thrombosis associated with hyperhomocysteinemia secondary to pernicious anemia-induced vitamin B12 deficiency. ( 30057976 )
2018
24
Thalassemia minor presenting with vitamin B12 deficiency, paraparesis, and microcytosis. ( 30214334 )
2018
25
Microangiopathic haemolytic anaemia with thrombocytopenia induced by vitamin B12 deficiency long term after gastrectomy. ( 30232206 )
2018
26
Prevalence of vitamin B12 deficiency in healthy Indian school-going adolescents from rural and urban localities and its relationship with various anthropometric indices: a cross-sectional study. ( 29468754 )
2018
27
Do the benefits of folic acid fortification outweigh the risk of masking vitamin B12 deficiency? ( 29496696 )
2018
28
Vitamin B12 deficiency - detection and treatment considerations. ( 30007795 )
2018
29
Vitamin B12 Deficiency in Children With Infantile Spasms: A Case-Control Study. ( 30032694 )
2018
30
Subclinical atherosclerosis and impaired cardiac autonomic control in pediatric patients with Vitamin B12 deficiency. ( 30074003 )
2018
31
Association of metformin use with vitamin B12 deficiency in the institutionalized elderly. ( 30114554 )
2018
32
Diagnostic value of oral "beefy red" patch in vitamin B12 deficiency. ( 30122939 )
2018
33
Uncommon manifestations of Vitamin B12 deficiency. ( 30166687 )
2018
34
Spontaneous Left Anterior Descending Artery Dissection in a Middle-Aged Woman with Vitamin B12 Deficiency Treated with Coronary Artery Bypass Grafting. ( 30186709 )
2018
35
Simultaneous acute presentation of generalized chorea and subacute combined degeneration secondary to vitamin B12 deficiency. ( 30220555 )
2018
36
Vitamin B12 Deficiency Induces Imbalance in Melanocytes Homeostasis-A Cellular Basis of Hypocobalaminemia Pigmentary Manifestations. ( 30235895 )
2018
37
Expert comment to "Simultaneous acute presentation of generalized chorea and subacute combined degeneration of the spinal cord secondary to vitamin B12 deficiency". ( 30236827 )
2018
38
Systematic Review and Pragmatic Clinical Approach to Oral and Nasal Vitamin B12 (Cobalamin) Treatment in Patients with Vitamin B12 Deficiency Related to Gastrointestinal Disorders. ( 30261596 )
2018
39
Vitamin B12 deficiency-induced pseudothrombotic microangiopathy without macrocytosis presenting with acute renal failure: a case report. ( 30285873 )
2018
40
Neuropathology of vitamin B12 deficiency in the Cd320-/- mouse. ( 30303736 )
2018
41
Dermatologic findings of vitamin B12 deficiency in infants. ( 30307060 )
2018
42
Prevalence of vitamin B12 deficiency in South Indians with different grades of glucose tolerance. ( 30317438 )
2018
43
Psychomotor regression due to vitamin B12 deficiency. ( 30374398 )
2018
44
Corrigendum to "Association of metformin use with vitamin B12 deficiency in the institutionalized elderly" [Arch. Gerontol. Geriatrics 79 (November-December) (2018) 57-62]. ( 30401584 )
2018
45
Ileocaecal tuberculosis: an under-recognised cause of vitamin B12 deficiency. ( 30541387 )
2018
46
Systemic Scedosporium prolificans infection in an 11-month-old Border collie with cobalamin deficiency secondary to selective cobalamin malabsorption (canine Imerslund-Gräsbeck syndrome). ( 28390190 )
2018
47
Frontotemporal Atrophy: Presenting Sign in Infantile Cobalamin Deficiency. ( 29170924 )
2018
48
Cobalamin deficiency presenting with thrombotic microangiopathy (TMA) features: A systematic review. ( 29454538 )
2018
49
The wider implications of suspected cobalamin deficiency myelopathy. ( 29474664 )
2018
50
Cobalamin Deficiency Results in Increased Production of Formate Secondary to Decreased Mitochondrial Oxidation of One-Carbon Units in Rats. ( 29546303 )
2018

Variations for Vitamin B12 Deficiency

ClinVar genetic disease variations for Vitamin B12 Deficiency:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 AMN NM_030943.3(AMN): c.149T> C (p.Phe50Ser) single nucleotide variant Uncertain significance rs772475317 GRCh38 Chromosome 14, 102923816: 102923816
2 AMN NM_030943.3(AMN): c.149T> C (p.Phe50Ser) single nucleotide variant Uncertain significance rs772475317 GRCh37 Chromosome 14, 103390153: 103390153
3 AMN NM_030943.3(AMN): c.320_321dup (p.Asp108Leufs) duplication Pathogenic GRCh38 Chromosome 14, 102928782: 102928783
4 AMN NM_030943.3(AMN): c.320_321dup (p.Asp108Leufs) duplication Pathogenic GRCh37 Chromosome 14, 103395119: 103395120

Expression for Vitamin B12 Deficiency

Search GEO for disease gene expression data for Vitamin B12 Deficiency.

Pathways for Vitamin B12 Deficiency

Pathways related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 ACADVL AMN CGA GPT MTHFR MTR
2
Show member pathways
11.96 AMN MTHFR MTR TCN1 TCN2
3
Show member pathways
11.9 GPT MTHFR MTR
4
Show member pathways
11.79 MTHFR MTR TCN1 TCN2
5
Show member pathways
11.69 MTHFR MTR TCN2
6
Show member pathways
11.4 AMN MTR TCN2
7 11.11 EPO TF
8 10.25 AMN MTR TCN1 TCN2

GO Terms for Vitamin B12 Deficiency

Cellular components related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.23 AMN CGA EPO GPT PON1 TCN1

Biological processes related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular amino acid biosynthetic process GO:0008652 9.43 GPT MTR
2 blood circulation GO:0008015 9.4 EPO MTHFR
3 response to interleukin-1 GO:0070555 9.37 EPO MTHFR
4 response to axon injury GO:0048678 9.32 EPO MTR
5 methionine biosynthetic process GO:0009086 9.26 MTHFR MTR
6 cobalt ion transport GO:0006824 9.16 TCN1 TCN2
7 cobalamin transport GO:0015889 9.13 AMN TCN1 TCN2
8 cobalamin metabolic process GO:0009235 8.92 AMN MTR TCN1 TCN2

Molecular functions related to Vitamin B12 Deficiency according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cobalamin binding GO:0031419 8.8 MTR TCN1 TCN2

Sources for Vitamin B12 Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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