Property Summary

NCBI Gene PubMed Count 3,120
PubMed Score 4846.77
PubTator Score 5901.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease Sources (7)

Disease Target Count
Hyperhomocysteinemia 34
Cleft Lip 91
Male infertility 170
Rheumatoid Arthritis 1171
Acute kidney injury 65
Adverse reaction to drug 54
Alopecia 55
Alzheimer's disease 644
Anemia 252
Arsenic Poisoning 59
Atrial Fibrillation 110
Autistic Disorder 320
Bipolar Disorder 266
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
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
Female infertility 28
Gastrointestinal Diseases 12
Gastrointestinal Stromal Tumors 8
Graft-vs-Host Disease 5
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY 1
Hearing Loss, Sudden 1
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 57
Lymphoma, Follicular 20
Lymphoma, Non-Hodgkin 22
Malnutrition 3
Mammary Neoplasms 410
Maxillofacial Abnormalities 1
Meningomyelocele 4
Methylenetetrahydrofolate reductase deficiency 1
Microsatellite Instability 12
Mthfr Deficiency, Thermolabile Type 1
Necrosis 51
Neoplasm Metastasis 138
Neural Tube Defects 31
Neural tube defect, folate-sensitive 4
Neutropenia 78
OROFACIAL CLEFT 1 2
Peripheral Neuropathy 303
Precursor Cell Lymphoblastic Leukemia Lymphoma 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
chronic lymphocytic leukemia 244
nervous system disorder 53
Disease Target Count P-value
non-small cell lung cancer 2798 1.31866777590262E-11
ovarian cancer 8492 2.84038778871969E-6
osteosarcoma 7933 4.19713134060322E-6
intraductal papillary-mucinous adenoma (IPMA) 2956 0.025535352572256
Disease Target Count Z-score Confidence
Homocystinuria 23 5.887 2.9
spina bifida 1064 4.842 2.4

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)

  Ortholog (12)

Species Source
Chimp OMA EggNOG
Macaque OMA EggNOG Inparanoid
Mouse OMA EggNOG Inparanoid
Rat OMA EggNOG Inparanoid
Dog OMA EggNOG Inparanoid
Cow OMA EggNOG Inparanoid
Opossum OMA EggNOG Inparanoid
Platypus OMA EggNOG Inparanoid
Chicken OMA EggNOG
Xenopus OMA EggNOG Inparanoid
C. elegans OMA Inparanoid
S.cerevisiae OMA EggNOG Inparanoid

 GO Component (2)

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
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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
//

Text Mined References (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.
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