MCID: VTM002
MIFTS: 47

Vitamin B12 Deficiency

Categories: 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 megaloblastic anemia 1. An important gene associated with Vitamin B12 Deficiency is AMN (Amnion Associated Transmembrane Protein), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Folate Metabolism. The drugs Hydroxocobalamin and Iron have been mentioned in the context of this disorder. Affiliated tissues include heart, tongue and bone, 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 189)
# Related Disease Score Top Affiliating Genes
1 pernicious anemia 32.8 GIF TCN1 TCN2
2 megaloblastic anemia 1 32.4 AMN GIF
3 congenital intrinsic factor deficiency 32.3 AMN GIF
4 transcobalamin ii deficiency 31.1 GIF MTHFR MTR TCN1 TCN2
5 neural tube defects, folate-sensitive 30.7 MTHFR MTR
6 iron metabolism disease 30.4 EPO TF
7 homocystinuria 30.2 MTHFR MTR TCN2
8 homocysteinemia 30.2 MTHFR MTR
9 hemoglobin h disease 30.0 EPO TF
10 iron deficiency anemia 29.9 EPO TF
11 megaloblastic anemia 29.6 AMN GIF MTHFR MTR TCN1 TCN2
12 neural tube defects 29.3 MTHFR MTR TCN2
13 atrophic gastritis 11.4
14 diphyllobothriasis 11.0
15 blind loop syndrome 11.0
16 autoimmune atrophic gastritis 11.0
17 bothriocephalosis 11.0
18 homocystinuria due to deficiency of n -methylenetetrahydrofolate reductase activity 10.7 MTHFR MTR
19 ariboflavinosis 10.6 MTHFR TF
20 amino acid metabolic disorder 10.6 MTHFR MTR
21 ophthalmia neonatorum 10.6 CD79A MTR
22 yellow nail syndrome 10.5 CD79A TF
23 gamma heavy chain disease 10.5 CD79A GIF
24 marasmus 10.5 CD79A TF
25 small intestine lymphoma 10.5 CD79A GIF
26 central nervous system lymphoma 10.5 MTR TCN2
27 neuropathy 10.4
28 lipoid nephrosis 10.4 CD79A TF
29 dysentery 10.4 CD79A TF
30 pure red-cell aplasia 10.4 EPO TF
31 protein-energy malnutrition 10.4 CD79A TF
32 vernal conjunctivitis 10.3 CD79A TF
33 analbuminemia 10.3 EPO TF
34 galactosemia 10.3 GIF TF
35 stomach disease 10.3 CD79A GIF
36 hepatic infarction 10.3 ADAM17 MTHFR
37 hemosiderosis 10.3 EPO TF
38 methylmalonic aciduria, cblb type 10.3 MTHFR MTR TCN2
39 dementia 10.3
40 hepatic vascular disease 10.3 ADAM17 MTHFR
41 aging 10.2
42 pancytopenia 10.2
43 peripheral nervous system disease 10.2
44 optic nerve disease 10.2
45 vein disease 10.2 ADAM17 MTHFR
46 deficiency anemia 10.2
47 hemoglobinopathy 10.2 EPO TF
48 diabetes mellitus 10.2
49 microcytic anemia 10.1 EPO TF
50 parasitic protozoa infectious disease 10.1 CD79A TCN2

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 9.56 ACADVL ADAM17 CD79A EPO GIF MTHFR
2 mortality/aging MP:0010768 9.23 ACADVL ADAM17 AMN EPO GIF MTHFR

Drugs & Therapeutics for Vitamin B12 Deficiency

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

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

Interventional clinical trials:

(show top 50) (show all 62)
# 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 The Vitamin B Status in Type 2 Diabetes (VITA) Study Completed NCT03447275
41 Cracking the Egg Potential: Improving Young Child Nutrition in Ecuador Completed NCT02446873 Not Applicable
42 Oral Vitamin B12 Supplementation and Cognitive Performance in Elderly People Completed NCT00111267 Not Applicable
43 Evaluation of Holotranscobalamin as an Indicator of Vitamin B12 Absorption Completed NCT00235573 Not Applicable
44 NAC-003 P.L.U.S. Program (Progress Through Learning Understanding & Support) Completed NCT01370954
45 The Bread Trial: Effects of Bread Fortified With Folic Acid and Vitamin B12 Completed NCT00353353 Not Applicable
46 Acid Suppressive Therapy - Review of Appropriateness Completed NCT02259270
47 Interaction of Cobalamin Status With Nitrous Oxide in Relation to Postoperative Cognitive Changes in the Elderly Completed NCT00212147 Not Applicable general anesthesia
48 Homocysteine After Laparoscopic Roux-enY Gastric Bypass Completed NCT03489538
49 B Vitamin Status in Premature and Small for Gestational Age(SGA) Infants Completed NCT01201005 Not Applicable
50 Natural Versus Synthetic Vitamin B Complexes in Human Completed NCT03444155 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, Tongue, Bone, Spinal Cord, Testes, Colon, Brain

Publications for Vitamin B12 Deficiency

Articles related to Vitamin B12 Deficiency:

(show top 50) (show all 669)
# 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
Characteristics of Vitamin B12 Deficiency in Patients With Plasma Cell Disorders. ( 28757000 )
2017
17
Prevalence of Vitamin B12 Deficiency in Patients with Type II Diabetes Mellitus on Metformin: A Study from Khyber Pakhtunkhwa. ( 29057189 )
2017
18
Efficacy of oral methylcobalamin in treatment of vitamin B12 deficiency anemia in children. ( 28667789 )
2017
19
Behavioral alterations are associated with vitamin B12 deficiency in the transcobalamin receptor/CD320 KO mouse. ( 28545069 )
2017
20
Metformin Use and Vitamin B12 Deficiency: Untangling the Association. ( 28864375 )
2017
21
Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency. ( 28798917 )
2017
22
Perspectives on Peripheral Neuropathy as a Consequence of Metformin-Induced Vitamin B12 Deficiency in T2DM. ( 28932240 )
2017
23
Vitamin B12 Deficiency: Recognition and Management. ( 28925645 )
2017
24
Investigation of the vitamin B12 deficiency with peripheral neuropathy in patients with type 2 diabetes mellitus treated using metformin. ( 29270571 )
2017
25
Correction: Vitamin B12 deficiency. ( 28726793 )
2017
26
Pseudothrombotic microangiopathy and vitamin B12 deficiency in pernicious anemia. ( 28670082 )
2017
27
Oxidative Stress, Hepcidin and Nesfatin-I Status in Childhood Iron and Vitamin B12 Deficiency Anemias. ( 28691407 )
2017
28
The risks of folic acid to the nervous system in vitamin B12 deficiency: rediscovered in the era of folic acid fortification policies. ( 28596250 )
2017
29
Association between the MTHFR C677T polymorphism, blood folate and vitamin B12 deficiency, and elevated serum total homocysteine in healthy individuals in Yunnan Province, China. ( 28094233 )
2017
30
Vitamin B12-Loaded Buccoadhesive Films as a Noninvasive Supplement in Vitamin B12 Deficiency: InA Vitro Evaluation and InA Vivo Comparative Study With Intramuscular Injection. ( 28400198 )
2017
31
The Efficacy of Oral Vitamin B12 Replacement for Nutritional Vitamin B12 Deficiency. ( 29189512 )
2017
32
Vitamin B12 deficiency might be related to sarcopenia in older adults. ( 28549839 )
2017
33
Nitrous oxide-induced vitamin B12 deficiency. ( 28405070 )
2017
34
Re: Vitamin B12 Deficiency in Patients after Enterocystoplasty. ( 28618704 )
2017
35
Vitamin B12 deficiency after esophagectomy with gastric tube reconstruction for esophageal cancer. ( 29800266 )
2017
36
Methylcobalamin in Vitamin B12 Deficiency: To Give or not to Give? ( 28405134 )
2017
37
The histopathological evaluation of small fiber neuropathy in patients with vitamin B12 deficiency. ( 29052170 )
2017
38
Microangiopathic Hemolytic Anemia - A Rare Presentation of Vitamin B12 Deficiency. ( 29071581 )
2017
39
Vitamin B12 deficiency. ( 28660905 )
2017
40
Vitamin B12 deficiency. ( 28660890 )
2017
41
Vitamin B12 deficiency in inflammatory bowel disease: a prospective observational pilot study. ( 28953003 )
2017
42
High Serum Folate Is Associated with Brain Atrophy in Older Diabetic People with Vitamin B12 Deficiency. ( 29083449 )
2017
43
Recurrent anaemia in a patient with lymphocytic gastritis and vitamin B12 deficiency. ( 28943131 )
2017
44
Response to 'Vitamin B12 deficiency may coexist with endocrine causes of hyperpigmentation'. ( 29025026 )
2017
45
Reversible Vitamin B12 Deficiency Presenting with Acute Dementia, Paraparesis, and Normal Hemoglobin. ( 28070432 )
2016
46
Pseudo-Thrombotic Thrombocytopenic Purpura due to Severe Vitamin B12 Deficiency. ( 28045688 )
2016
47
Subclinical vitamin B12 deficiency and heart rate variability across life cycle. ( 26864037 )
2016
48
Experimental vitamin B12 deficiency in a human subject: a longitudinal investigation of the performance of the holotranscobalamin (HoloTC, Active-B12) immunoassay. ( 27026880 )
2016
49
Vitamin B12 Deficiency Induced by the Use of Gastric Acid Inhibitors: Calcium Supplements as a Potential Effect Modifier. ( 27102797 )
2016
50
Prevalence of vitamin B12 deficiency in type 2 diabetic patients using metformin: a cross-sectional study. ( 27276084 )
2016

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
12.04 AMN GIF MTHFR MTR TCN1 TCN2
2
Show member pathways
11.89 GIF MTHFR MTR TCN1 TCN2
3
Show member pathways
11.69 MTHFR MTR TCN2
4
Show member pathways
11.53 AMN GIF MTR TCN2
5 11.11 EPO TF
6 10.78 GIF TCN2
7 10.34 AMN GIF MTR TCN1 TCN2
8
Show member pathways
10.17 AMN GIF

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 9.43 AMN EPO GIF TCN1 TCN2 TF
2 apical plasma membrane GO:0016324 8.92 ADAM17 AMN GIF TF

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

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.71 GIF TCN1 TCN2 TF
2 blood circulation GO:0008015 9.43 EPO MTHFR
3 response to hypoxia GO:0001666 9.43 ADAM17 EPO MTHFR
4 response to interleukin-1 GO:0070555 9.37 EPO MTHFR
5 cobalt ion transport GO:0006824 9.33 GIF TCN1 TCN2
6 response to axon injury GO:0048678 9.32 EPO MTR
7 cobalamin transport GO:0015889 9.26 AMN GIF TCN1 TCN2
8 cobalamin metabolic process GO:0009235 9.02 AMN GIF 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 8.92 GIF 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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