Property Summary

NCBI Gene PubMed Count 3,120
Grant Count 410
R01 Count 234
Funding $70,122,337.83
PubMed Score 4846.77
PubTator Score 5901.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Relevance (113)

Disease Z-score Confidence
Hyperhomocysteinemia 34 7.701 3.9
Thrombophilia 36 6.361 3.2
Homocystinuria 23 5.887 2.9
Cerebrovascular disease 231 5.463 2.7
Cancer 2,346 5.19 2.6
Coronary artery disease 240 4.994 2.5
Placental abruption 15 4.949 2.5
spina bifida 1,064 4.842 2.4
Hypertension 287 4.84 2.4
Blood protein disease 10 4.734 2.4
Vitamin B12 deficiency 20 4.718 2.4
Protein C deficiency 19 4.451 2.2
Cleft Lip 91 4.45 2.2
Down syndrome 548 4.291 2.1
Pulmonary Embolism 45 4.237 2.1
Antithrombin III deficiency 9 4.224 2.1
Peripheral vascular disease 90 4.169 2.1
Atherosclerosis 275 4.153 2.1
Migraine 79 4.145 2.1
Portal vein thrombosis 9 4.027 2.0
Cleft palate 125 3.984 2.0
Schizophrenia 500 3.967 2.0
Male infertility 170 3.884 1.9
Hepatic vein thrombosis 8 3.874 1.9
diabetes mellitus 1,663 3.867 1.9
Antiphospholipid syndrome 18 3.856 1.9
Colorectal adenoma 15 3.833 1.9
Kidney disease 396 3.739 1.9
Heart disease 279 3.716 1.9
Rheumatoid Arthritis 1,157 3.704 1.9
Infertility 163 3.505 1.8
Dementia 129 3.385 1.7
Osteonecrosis 25 3.251 1.6
Acute kidney injury 65
Adverse reaction to drug 54
Alopecia 55
Alzheimer's disease 644
Anemia 252
Anencephaly 2
Arsenic Poisoning 59
Atrial Fibrillation 110
Autistic Disorder 320
Bipolar Disorder 265
Bladder Neoplasm 109
Blood Coagulation Disorders, Inherited 1
Blood pressure finding 56
Brain Ischemia 87
Cardiovascular Diseases 50
Cerebrovascular accident 44
Cervical Intraepithelial Neoplasia 2
Chronic Lymphocytic Leukemia 242
Colonic Neoplasms 126
Colorectal Neoplasms 217
Congenital Heart Defects 37
Congenital clubfoot 4
Coronary Restenosis 8
Coronary heart disease 59
Depressive disorder 48
Dermatologic disorders 65
Diabetic Angiopathies 7
Drug Eruptions 18
Drug-Induced Liver Injury 118
Endometrial Neoplasms 50
Essential Hypertension 82 2.0
Female infertility 28
Gastrointestinal Diseases 12
Gastrointestinal Stromal Tumors 8
Graft-vs-Host Disease 5
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,... 1 
Hearing Loss, Sudden 1
Heart conduction disease 65 2.0
Hematological Disease 8
Hypersensitivity 63
Inflammatory disease of mucous membrane 8
Kidney Diseases 86
Leukoencephalopathies 7
Leukopenia 42
Liver diseases 66
Lung Neoplasms 171
Lymphoma 56
Lymphoma, Follicular 20
Lymphoma, Non-Hodgkin 22
Malnutrition 3
Mammary Neoplasms 410
Maxillofacial Abnormalities 1
Meningomyelocele 4
Methylenetetrahydrofolate reductase defi... 1 
Microsatellite Instability 12
Microvascular Angina 1
Mthfr Deficiency, Thermolabile Type 1
Necrosis 51
Neoplasm Metastasis 138
Neural Tube Defects 27
Neural tube defect, folate-sensitive 4
Neutropenia 78
OROFACIAL CLEFT 1 2
Peripheral Neuropathy 303
Precursor Cell Lymphoblastic Leukemia Ly... 42 
Prostatic Neoplasms 471
Sinus Thrombosis, Intracranial 2
Spinal Cord Diseases 3
Stomach Neoplasms 282
Systemic arterial pressure 56
Thrombocytopenia 105
Thyrotoxicosis 38
Uterine Cervical Neoplasm 21
Vascular Diseases 16
Venous Thrombosis 21
intraductal papillary-mucinous adenoma (... 2,956 
nervous system disorder 53
non-small cell lung cancer 2,798
osteosarcoma 7,933
ovarian cancer 8,484

Expression

  Differential Expression (4)

Disease log2 FC p
osteosarcoma 2.233 0.000
non-small cell lung cancer -1.037 0.000
intraductal papillary-mucinous adenoma (... 1.200 0.026
ovarian cancer -1.100 0.000

Synonym

Gene

PANTHER Protein Class (2)

 GO Component (2)

Protein-protein Interaction (1)

Gene RIF (3877)

PMID Text
27089387 MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms are associated with Geographical and Ethnic differences.
27068821 Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy.
27062459 In this study population, no evidence of main or joint effects of polymorphisms and DNA methylation in the MTHFR gene on affecting colorectal adenoma risk was observed.
27017713 we established increased carotid stiffness and higher frequency of procoagulant gene mutations in migraineurs
26990189 MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping
26983014 MTHFR 677 C>T polymorphism does not affect PCOS risk in India. The association seen in the meta-analysis is due to an outlier study and studies showing deviation from the Hardy Weinberg equilibrium
26928923 Mutations in the MTHFR gene were not found to be significantly more frequent in JIA patients intolerant to MTX.
26926955 MTHFR epimutations are likely to contribute to the increased genomic instability observed in cells from mothers of Down syndrome individuals.
26926881 The MTHFR 677 T allele codes a thermolabile and less active enzyme, which is associated with decreased folate and increased homocysteine levels.
26857559 The combination of MTHFR, DRD3 and MDR1 polymorphisms associated with a slow ATV metabolizer phenotype
More...

AA Sequence

MVNEARGNSSLNPCLEGSASSGSESSKDSSRCSTPGLDPERHERLREKMRRRLESGDKWFSLEFFPPRTA      1 - 70
EGAVNLISRFDRMAAGGPLYIDVTWHPAGDPGSDKETSSMMIASTAVNYCGLETILHMTCCRQRLEEITG     71 - 140
HLHKAKQLGLKNIMALRGDPIGDQWEEEEGGFNYAVDLVKHIRSEFGDYFDICVAGYPKGHPEAGSFEAD    141 - 210
LKHLKEKVSAGADFIITQLFFEADTFFRFVKACTDMGITCPIVPGIFPIQGYHSLRQLVKLSKLEVPQEI    211 - 280
KDVIEPIKDNDAAIRNYGIELAVSLCQELLASGLVPGLHFYTLNREMATTEVLKRLGMWTEDPRRPLPWA    281 - 350
LSAHPKRREEDVRPIFWASRPKSYIYRTQEWDEFPNGRWGNSSSPAFGELKDYYLFYLKSKSPKEELLKM    351 - 420
WGEELTSEESVFEVFVLYLSGEPNRNGHKVTCLPWNDEPLAAETSLLKEELLRVNRQGILTINSQPNING    421 - 490
KPSSDPIVGWGPSGGYVFQKAYLEFFTSRETAEALLQVLKKYELRVNYHLVNVKGENITNAPELQPNAVT    491 - 560
WGIFPGREIIQPTVVDPVSFMFWKDEAFALWIERWGKLYEEESPSRTIIQYIHDNYFLVNLVDNDFPLDN    561 - 630
CLWQVVEDTLELLNRPTQNARETEAP                                                631 - 656
//

Publication (3127)

PMID Year Title
27089387 2016 Geographical and Ethnic Distributions of the MTHFR C677T, A1298C and MTRR A66G Gene Polymorphisms in Chinese Populations: A Meta-Analysis.
27068821 2016 Polymorphisms in the MTHFR gene influence embryo viability and the incidence of aneuploidy.
27062459 2016 Genetic and epigenetic variation in the DNMT3B and MTHFR genes and colorectal adenoma risk.
27017713 2015 MIGRAINE, CAROTID STIFFNESS AND GENETIC POLYMORPHISM.
26990189 2016 Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.
26983014 2016 Is MTHFR 677 C>T Polymorphism Clinically Important in Polycystic Ovarian Syndrome (PCOS)? A Case-Control Study, Meta-Analysis and Trial Sequential Analysis.
26928923 2016 Mutations in the MTHFR gene are not associated with Methotrexate intolerance in patients with juvenile idiopathic arthritis.
26926955 2016 Increased MTHFR promoter methylation in mothers of Down syndrome individuals.
26926881 2016 Distinct effects of folate pathway genes MTHFR and MTHFD1L on ruminative response style: a potential risk mechanism for depression.
26857559 2016 A pharmacogenetic pilot study reveals MTHFR, DRD3, and MDR1 polymorphisms as biomarker candidates for slow atorvastatin metabolizers.
More...