AutismKB 2.0

Annotation Detail for MTHFR


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Basic Information Top
Gene Symbol:MTHFR ( - )
Gene Full Name: methylenetetrahydrofolate reductase (NAD(P)H)
Band: 1p36.22
Quick LinksEntrez ID:4524; OMIM: 607093; Uniprot ID:MTHR_HUMAN; ENSEMBL ID: ENSG00000177000; HGNC ID: 7436
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-2201folate transformations
Pathway IDPathway Name
hsa00670One carbon pool by folate
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of vitamins and cofactors
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Inherited disorders of amino acid metabolism
Genetic disorders
H00183Homocystinuria
Desease IDDesease Name
1701Antiphospholipid syndrome
1706Thrombophilia
1709Parkinson disease
1740Alzheimer's disease
1742Moyamoya disease
1745Huntington disease
1755Cleft palate
1781Rheumatoid arthritis
1799Epilepsy
1806Arteriopathy
1842Sickle cell disease
1856Obesity
1872Chronic simple glaucoma
1894Abortion
1902Kidney failure
1904Diabetes mellitus
1907Depression
1909Migraine
1914Cerebrovascular disorder
1934Cancer
1983Down syndrome
1996Abruption placentae
1999Thalassemia
2008Liver disease
2040Hyperglycemia
2045Bipolar disorder
2049Hyperuricemia
2060Glaucoma
2064Spinal dysraphism
2069Schizophrenia
2074Asthma
1823Infertility, Male
2039Hyperhomocysteinemia
2094Ulcerative colitis
2100Hepatitis C
2102Polycystic ovary syndrome
2117Folic acid deficiency
2138Osteoporosis
2174Chronic rejection of renal transplant
2190Attention deficit hyperactivity disorder
2199Takayasu's arteritis
2232Aseptic necrosis of bone
2233Cirrhosis
2236Cardiovascular disease
2241Infertility
Desease Name
HEMATOLOGICAL
rheumatoid arthritis
diabetic nephropathy
heart anomalies, congenital
cardiovascular disease
Atrial Fibrillation
Thrombosis
Venous Thrombosis
sickle cell anemia
omphalocele
kidney transplant complications
risk of cervical dysplasia
atherosclerosis, coronary
late-onset Alzheimer's disease.
Abruptio Placentae
colorectal cancer
CARDIOVASCULAR
Coronary Artery Disease
myocardial infarct
Osteoporosis
CHEMDEPENDENCY
liver cancer
Drug Hypersensitivity
coke-oven toxicity
plasma homocysteine
homocysteine
Alzheimer's disease
mild hyperhomocysteinaemia
recurrent early fetal loss
cervical artery dissection, spontaneous
abdominal aortic aneurysm homocysteine hypertension
reduced risk of osteoporotic fractures case control study
CANCER
PSYCH
stroke, ischemic
stomach cancer
systolic blood pressure
folate pool
PHARMACOGENOMIC
folate homocysteine vitamin B12
acute leukemia
Vitamin B 12 Deficiency
hyperhomocysteinemia and cardiovascular disease
neural tube defects and preeclampsia
bladder cancer
esophageal cancer
Budd-Chiari syndrome liver transplant portal vein thrombosis
RENAL
arsenic metabolism
spinal bone mineral density
breast cancer
methotrexate toxicity
pregnancy loss
multiple sclerosis
Brain Ischemia
Longer telomeres at low folate nutritional status
gastric cardia cancer
abdominal aortic aneurysm
neural tube defects
hemorrhagic and ischemic stroke
cardiovascular
IMMUNE
Eclampsia
NEUROLOGICAL
alcohol
non-Hodgkin's lymphoma
pregnancy loss, recurrent
migraine risk
schizophrenia
idiopathic deep venous thrombosis
Hyperhomocysteinemia
METABOLIC
Infertility, Male
Stroke
VISION
Nervous System Diseases
Anemia
lung cancer
obesity
preeclampsia
Cardiovascular Diseases
Gastritis, Atrophic
leukemia
DEVELOPMENTAL
plasma homocysteine levels
thrombosis, deep vein
thromboembolism, venous
cerebrovascular disease
cholangiocarcinoma homocysteine
REPRODUCTION
diabetes, type 2
Glaucoma, Open-Angle
folate homocysteine
congenital cardiac malformations
Glaucoma, Angle-Closure
carotid atherosclerosis
Virilism
smoking
Down Syndrome
oxidative stress
Desease Name
Plasma homocysteine
Systolic blood pressure
Atrial fibrillation
Desease Name
Neural tube defects, susceptibility to
Vascular disease, susceptibility to
Cleft lip/palate, susceptibility to
Thromboembolism, susceptibility to
Schizophrenia, susceptibility to
Homocystinuria due to MTHFR deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C013123 5,10-methylenetetrahydrofolate MTHFR protein results in increased metabolism of 5,10-methylenetetrahydrofolateincreases metabolic processing 16187112
C013123 5,10-methylenetetrahydrofolate MTHFR protein results in increased reduction of 5,10-methylenetetrahydrofolateincreases reduction 7647779
C005984 5-methyltetrahydrofolate MTHFR protein results in increased chemical synthesis of 5-methyltetrahydrofolateincreases chemical synthesis 9719624
7647779
D006710 Homocysteine MTHFR protein affects the metabolism of Homocysteineaffects metabolic processing 20547447
D006710 Homocysteine MTHFR protein mutant form results in increased abundance of Homocysteineincreases abundance 7647779
D006710 Homocysteine MTHFR protein affects the abundance of Homocysteine metaboliteaffects abundance 19204075
D006710 Homocysteine [MTHFR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionineincreases chemical synthesis|increases methylation 18234410
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MTHFR mRNAaffects expression 16483693
D003504 Ancitabine MTHFR protein affects the susceptibility to Ancitabineaffects response to substance 18202788
D001151 Arsenic MTHFR gene polymorphism affects the metabolism of and affects the susceptibility to Arsenicaffects metabolic processing|affects response to substance 17365577
17548696
D001151 Arsenic MTHFR gene polymorphism affects the metabolism of Arsenicaffects metabolic processing 17637926
D001151 Arsenic MTHFR polymorphism affects the metabolism of Arsenicaffects metabolic processing 17365577
D001151 Arsenic MTHFR polymorphism affects the methylation of Arsenicaffects methylation 17440589
D003024 Clozapine MTHFR gene polymorphism affects the susceptibility to Clozapineaffects response to substance 20547447
D003024 Clozapine MTHFR protein affects the susceptibility to Clozapineaffects response to substance 20547447
D003561 Cytarabine MTHFR protein affects the susceptibility to Cytarabineaffects response to substance 18202788
D005467 Floxuridine MTHFR protein affects the susceptibility to Floxuridineaffects response to substance 18202788
D005472 Fluorouracil MTHFR gene polymorphism affects the susceptibility to Fluorouracilaffects response to substance 16785472
19203896
17047490
16399440
D005472 Fluorouracil MTHFR gene polymorphism results in increased susceptibility to Fluorouracilincreases response to substance 15735113
18034621
D005472 Fluorouracil MTHFR gene polymorphism results in increased susceptibility to [Fluorouracil co-treated with Leucovorin]affects cotreatment|increases response to substance 18633250
D005472 Fluorouracil MTHFR protein affects the susceptibility to Fluorouracilaffects response to substance 15735113
18034621
D005472 Fluorouracil MTHFR protein affects the susceptibility to Fluorouracil analogaffects response to substance 15608557
D005472 Fluorouracil MTHFR protein results in increased metabolism of Fluorouracilincreases metabolic processing 18034621
D005492 Folic Acid Folic Acid affects the expression of MTHFR mRNAaffects expression 17311948
D005492 Folic Acid [Folic Acid co-treated with MTHFR gene SNP] affects the methylation of MGMT promoteraffects cotreatment|affects methylation 17301267
D005492 Folic Acid Folic Acid inhibits the reaction [MTHFR gene polymorphism results in increased activity of ACHE protein]decreases reaction|increases activity 16375580
D005492 Folic Acid MTHFR gene mutant form results in decreased abundance of Folic Aciddecreases abundance 17115185
D005492 Folic Acid MTHFR gene polymorphism affects the abundance of Folic Acidaffects abundance 16690736
16621645
D005492 Folic Acid MTHFR gene polymorphism affects the reaction [Folic Acid affects the methylation of CDKN2A promoter]affects methylation|affects reaction 16646054
D005492 Folic Acid MTHFR protein affects the metabolism of Folic Acidaffects metabolic processing 20547447
D002955 Leucovorin MTHFR gene polymorphism results in increased susceptibility to [Fluorouracil co-treated with Leucovorin]affects cotreatment|increases response to substance 18633250
D008715 Methionine [MTHFR protein results in increased methylation of Homocysteine] which results in increased chemical synthesis of Methionineincreases chemical synthesis|increases methylation 18234410
D008727 Methotrexate MTHFR gene SNP affects the susceptibility to Methotrexateaffects response to substance 17488658
C076029 olanzapine MTHFR gene polymorphism affects the susceptibility to olanzapineaffects response to substance 20547447
C076029 olanzapine MTHFR protein affects the susceptibility to olanzapineaffects response to substance 20547447
C006253 pirinixic acid pirinixic acid results in increased expression of MTHFR mRNAincreases expression 18301758
D020849 Raloxifene Raloxifene results in decreased expression of MTHFR mRNAdecreases expression 15849065
C017947 sodium arsenite sodium arsenite results in decreased expression of MTHFR proteindecreases expression 19766132
D013629 Tamoxifen Tamoxifen results in decreased expression of MTHFR mRNAdecreases expression 15849065
D012256 Riboflavin MTHFR gene polymorphism affects the susceptibility to Riboflavinaffects response to substance 17303386
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4714745880
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 4.1612039119
MESH:D000138 Acidosis Ammonium Chloride 3.4718287403
MESH:D058186 Acute Kidney Injury Folic Acid 4.2516595132 16316344 17003819
MESH:D055371 Acute Lung Injury pirinixic acid 3.0318653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4117638652
MESH:D000236 Adenoma Folic Acid 3.7416963246
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.4016434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.6215276417
MESH:D018246 Adrenocortical Adenoma Arsenic 13.5217306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 13.5216712894 17306315
MESH:D000380 Agranulocytosis Clozapine 4.9714617031 16160616 12649775
MESH:D000419 Albuminuria Raloxifene 4.5117308373 17451421
MESH:D000544 Alzheimer Disease marker/mechanism 17192785
MESH:D000544 Alzheimer Disease Folic Acid 4.5317116317
MESH:D000544 Alzheimer Disease Raloxifene 4.5315800139
MESH:D000740 Anemia Fluorouracil 3.6315504547 16511603 17963324
MESH:D020261 Arsenic Poisoning Arsenic 2.8416251483 12569548 18414634 16835338
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.0817286800
MESH:D050197 Atherosclerosis Arsenic 3.2012928151 19371607
MESH:D001321 Autistic Disorder marker/mechanism 19267885
MESH:D001321 Autistic Disorder 5-methyltetrahydrofolate 3.6318461502
MESH:D001321 Autistic Disorder Folic Acid 3.6321388746
MESH:D001321 Autistic Disorder Homocysteine 3.6316297937 20468076
MESH:D001321 Autistic Disorder Methionine 3.6319267885 16917939 19056591
MESH:D001321 Autistic Disorder olanzapine 3.6318685284 17069543
MESH:D001714 Bipolar Disorder marker/mechanism 17074966
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.0619483382
MESH:D025861 Blood Coagulation Disorders, Inherited marker/mechanism 17493413
MESH:D001930 Brain Injuries Raloxifene 4.3916580743
MESH:D001943 Breast Neoplasms marker/mechanism 16777985 17595805
MESH:D001943 Breast Neoplasms Fluorouracil 2.3516595493 15136595 16557594 19217205 16110121 18608205 18357371
MESH:D001943 Breast Neoplasms Folic Acid 2.3516777985
MESH:D001943 Breast Neoplasms Methotrexate 2.3516978400
MESH:D001943 Breast Neoplasms Raloxifene 2.3515758505 17440819 15775269 17952589 17893378 17595753 15572757 17242785 17049068 16912660 17261762 16837676
MESH:D001943 Breast Neoplasms Tamoxifen 2.3520065188 15565566 20859285 15668708 21152245 20005174 18815881 11161223 17261762 20135344 19103187 19155303 18997820 19115204 18821012 19289846 19011961 19084267 17440819 19221464 19066611 20544844 19487384 16202921 17893378 18629630 19059307 19189210 19288272 18984771 17049068 18855134 16818667 18425577 16873071 19142967 19244106 19189212 16273361 18351453 21138602 17242785 19200415 20390343 19410462
MESH:D002276 Carcinoid Tumor Fluorouracil 4.5916051944
MESH:D002277 Carcinoma Fluorouracil 3.4917121937
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.5415504454 17687452
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.4219066611
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.5017306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.5016799960 17045692 18930000 16332177 17971768 17088986
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 6.5016507464 17306315 15276417
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.5016924424
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 2.9818695887
MESH:D002294 Carcinoma, Squamous Cell Arsenic 7.4717687452 18922899 15504454
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 7.4718986760 16280240 17066447 16757204
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.4718572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 15.4618640142
MESH:D002295 Carcinoma, Transitional Cell Raloxifene 15.4617572228
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 15.4617572228
MESH:D002318 Cardiovascular Diseases marker/mechanism 16958597
MESH:D002318 Cardiovascular Diseases Arsenic 11.9819152805 15738583 17938729
MESH:D002318 Cardiovascular Diseases Folic Acid 11.9816755160
MESH:D002318 Cardiovascular Diseases Raloxifene 11.9815775269
MESH:D002340 Carotid Artery Diseases Arsenic 4.2316973168 18022660
MESH:D002389 Catatonia olanzapine 6.1718071103 16772815
MESH:D002471 Cell Transformation, Neoplastic Cytarabine 7.098243401
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 7.0919524636 20056578
MESH:D018290 Cervical Intraepithelial Neoplasia marker/mechanism 17303386
MESH:D002659 Child Development Disorders, Pervasive Methionine 4.2919267885
MESH:D015362 Child Nutrition Disorders Riboflavin 6.8616153327
MESH:D002779 Cholestasis pirinixic acid 2.7619176532
MESH:D002971 Cleft Lip marker/mechanism 16470725
MESH:D002971 Cleft Lip Folic Acid 3.9321254359
MESH:D002972 Cleft Palate Folic Acid 3.5321254359 8946559
MESH:D003025 Clubfoot marker/mechanism 16936070
MESH:D003072 Cognition Disorders Clozapine 11.3917123785
MESH:D003072 Cognition Disorders Raloxifene 11.3915800139
MESH:D003110 Colonic Neoplasms marker/mechanism 16284371
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2218772588 17018589 15001691 17287894 16510598 17016597 17725105 17172411 17169374 16340194
MESH:D015179 Colorectal Neoplasms marker/mechanism 15608557 17047490 18676755 16512993 16985020 17087956 17245555 17350979
MESH:D015179 Colorectal Neoplasms Floxuridine 4.9615040806
MESH:D015179 Colorectal Neoplasms Fluorouracil 4.9620501625 18448328 17695437 14970324 17401013 17454858 16524972 15289873 16282729 18288408 18802399 17255274 16331619 18509181 15148649 16303861 17016601 17594712 18949393 16391804 18383874 17094418
MESH:D015179 Colorectal Neoplasms Folic Acid 4.9617245555 17116713 17087956 16963246 16985020
MESH:D015179 Colorectal Neoplasms Leucovorin 4.9617255274 16303861 17594712 17454858 20501625 17401013
MESH:D003324 Coronary Artery Disease Homocysteine 3.7216379339
MESH:D023903 Coronary Restenosis marker/mechanism 16489563
MESH:D019465 Craniofacial Abnormalities Leucovorin 3.5816925845
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.5812039119 9562676
MESH:D003550 Cystic Fibrosis Methotrexate 4.1619747007
MESH:D007644 Darier Disease Fluorouracil 4.7116733453
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2819031437
MESH:D003866 Depressive Disorder marker/mechanism 17074966
MESH:D003865 Depressive Disorder, Major Raloxifene 4.0817474826
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3818249437
MESH:D003882 Dermatomyositis Methotrexate 5.0420191521
MESH:D002658 Developmental Disabilities olanzapine 4.6317069543
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.9716402076
MESH:D003924 Diabetes Mellitus, Type 2 Folic Acid 4.9716886840
MESH:D003925 Diabetic Angiopathies marker/mechanism 16681562
MESH:D003928 Diabetic Nephropathies Raloxifene 8.7817451421 15920148 17308373
MESH:D003928 Diabetic Nephropathies Tamoxifen 8.7819279558
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.4715331141
MESH:D004314 Down Syndrome marker/mechanism 16353284 16489479 16845273 17431899
MESH:D003875 Drug Eruptions marker/mechanism 14723717
MESH:D050171 Dyslipidemias Clozapine 4.1216402076
MESH:D004487 Edema pirinixic acid 6.6212083418
MESH:D004487 Edema Raloxifene 6.6215860553
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Raloxifene 8.9615845917
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.9619031437
MESH:D016889 Endometrial Neoplasms marker/mechanism 17301261
MESH:D016889 Endometrial Neoplasms Folic Acid 7.5817301261
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.5817893378 16202921 19155303 20544844
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4317638652 16481741 16785472 16337965 15173087
MESH:D017889 Exfoliation Syndrome Folic Acid 13.1016504073
MESH:D017889 Exfoliation Syndrome Homocysteine 13.1016504073
MESH:D005234 Fatty Liver pirinixic acid 12.6720131406 19236843
MESH:D005234 Fatty Liver Raloxifene 12.6717473493
MESH:D005234 Fatty Liver Tamoxifen 12.6714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.1816709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4414745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.1019069698
MESH:D005534 Foot Diseases Arsenic 5.486392382
MESH:D005756 Gastritis Folic Acid 5.0117171786
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.5916452187
MESH:D005901 Glaucoma Folic Acid 11.5716504073
MESH:D005901 Glaucoma Homocysteine 11.5716504073
MESH:D005910 Glioma Fluorouracil 2.8316145905
MESH:D006086 Graft vs Host Disease marker/mechanism 16518429
MESH:D006086 Graft vs Host Disease Methotrexate 5.0616518429
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.3315162350 15102660 18337622
MESH:D003639 Hearing Loss, Sudden marker/mechanism 16275406
MESH:D006330 Heart Defects, Congenital marker/mechanism 16524890
MESH:D006330 Heart Defects, Congenital Folic Acid 7.3317286298 16524890
MESH:D006330 Heart Defects, Congenital Homocysteine 7.3319638421
MESH:D006331 Heart Diseases Raloxifene 3.4711110106
MESH:D006333 Heart Failure pirinixic acid 2.4820558911
MESH:D006529 Hepatomegaly pirinixic acid 2.9118467677 16221962 19772884 19176532
MESH:D006679 HIV Seropositivity Folic Acid 5.4117209195
MESH:D006689 Hodgkin Disease Cytarabine 7.6016200630
MESH:D006689 Hodgkin Disease sodium arsenite 7.6012676792
MESH:D006712 Homocystinuria 5-methyltetrahydrofolate 6.7417413090
OMIM:236250 HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY marker/mechanism
MESH:D006943 Hyperglycemia pirinixic acid 3.1020558911
MESH:D020138 Hyperhomocysteinemia marker/mechanism 19204075 10459572 18234410 16317120 16397167 16411416 16575899
MESH:D020138 Hyperhomocysteinemia Folic Acid 9.5816865747 16395265 16397167 16755160 16433478
MESH:D020138 Hyperhomocysteinemia Homocysteine 9.5817292331 18234410 17369066
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.3817050553
MESH:D006948 Hyperkinesis Clozapine 4.8216046005
MESH:D006963 Hyperphagia olanzapine 6.1417933447
MESH:D006967 Hypersensitivity marker/mechanism 16766537
MESH:D006973 Hypertension Arsenic 5.4716076760 9931084 11953799
MESH:D006973 Hypertension Raloxifene 5.4715787275 17577099
MESH:D006987 Hypesthesia Arsenic 5.4816093927
MESH:D007247 Infertility, Female marker/mechanism 16679164
MESH:D007248 Infertility, Male marker/mechanism 16861746
MESH:D007248 Infertility, Male sodium arsenite 2.9315346721 12646999
MESH:D007249 Inflammation Tamoxifen 2.3119457130
MESH:D007333 Insulin Resistance pirinixic acid 2.5716306350
MESH:D007642 Keratosis Arsenic 4.9016930632 12749816
MESH:D007674 Kidney Diseases sodium arsenite 2.7520008137
MESH:D007680 Kidney Neoplasms Fluorouracil 7.2616985049
MESH:D007680 Kidney Neoplasms Tamoxifen 7.2618625569
MESH:D007805 Language Development Disorders Methotrexate 5.029562676
MESH:D007889 Leiomyoma Raloxifene 4.4116973256
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell marker/mechanism 16706930
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.4917339181
MESH:D008064 Lipidoses Clozapine 7.8717567588
MESH:D008064 Lipidoses Tamoxifen 7.8717567588 15342952
MESH:D008103 Liver Cirrhosis Methotrexate 3.6514986274
MESH:D008106 Liver Cirrhosis, Experimental Methionine 3.6315158331
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6315474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6318564211
MESH:D008107 Liver Diseases marker/mechanism 16877991
MESH:D008107 Liver Diseases Arsenic 4.5111134558
MESH:D008107 Liver Diseases Folic Acid 4.5116877991
MESH:D008113 Liver Neoplasms Arsenic 13.9016368122
MESH:D008113 Liver Neoplasms Fluorouracil 13.9017045692 18383874 15113037 16603448
MESH:D008113 Liver Neoplasms pirinixic acid 13.9015890375 20007298 16377806
MESH:D008113 Liver Neoplasms sodium arsenite 13.9016712894 15276417
MESH:D008113 Liver Neoplasms Tamoxifen 13.9016684651
MESH:D008133 Long QT Syndrome olanzapine 4.6620210726
MESH:D008171 Lung Diseases sodium arsenite 3.1119095001
MESH:D017563 Lung Diseases, Interstitial Methotrexate 4.9418516814
MESH:D008175 Lung Neoplasms marker/mechanism 17389614
MESH:D008175 Lung Neoplasms Arsenic 4.8117306315 17976673 19168569
MESH:D008175 Lung Neoplasms Fluorouracil 4.8115246190
MESH:D008175 Lung Neoplasms sodium arsenite 4.8117306315 17077188 16712894 15276417 19931552
MESH:D008175 Lung Neoplasms Tamoxifen 4.8118625569
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.7115086387
MESH:D008180 Lupus Erythematosus, Systemic Folic Acid 3.3117718048
MESH:D008223 Lymphoma marker/mechanism 16799656
MESH:D008223 Lymphoma Methotrexate 3.8917352296
MESH:D008224 Lymphoma, Follicular marker/mechanism 16410450
MESH:D008228 Lymphoma, Non-Hodgkin marker/mechanism 17488658
MESH:D044342 Malnutrition marker/mechanism 16709328
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6719428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.5711731420 19196722 14580682 19196723 16827153
MESH:D020149 Manganese Poisoning Tamoxifen 4.4719453300
MESH:D019767 Maxillofacial Abnormalities marker/mechanism 16832597
MESH:D019767 Maxillofacial Abnormalities Folic Acid 5.6116832597
MESH:D008545 Melanoma sodium arsenite 3.2719082730 16487513
MESH:D008545 Melanoma Tamoxifen 3.2712393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.1015990972
MESH:D008591 Meningomyelocele marker/mechanism 16602021
MESH:D008591 Meningomyelocele Homocysteine 5.4516602021
MESH:D001523 Mental Disorders Clozapine 8.3116856516
MESH:D001523 Mental Disorders olanzapine 8.3116856516
MESH:D008659 Metabolic Diseases olanzapine 5.3119142110
MESH:D024821 Metabolic Syndrome X Clozapine 4.3419142101
MESH:D053842 Microsatellite Instability marker/mechanism 17350979
MESH:D017566 Microvascular Angina marker/mechanism 17491230
MESH:D008881 Migraine Disorders Riboflavin 5.5318803445
MESH:D018200 Mixed Tumor, Mullerian Raloxifene 5.4715863610
MESH:D009062 Mouth Neoplasms Fluorouracil 3.5618986760 16757204
MESH:D052016 Mucositis marker/mechanism 17488658
MESH:D052016 Mucositis Methotrexate 5.1917488658
MESH:D009101 Multiple Myeloma Raloxifene 3.3716497877
MESH:D009135 Muscular Diseases pirinixic acid 3.4216239165
MESH:D009203 Myocardial Infarction Homocysteine 5.8717412321
MESH:D009203 Myocardial Infarction pirinixic acid 5.8719151258
MESH:D017202 Myocardial Ischemia Arsenic 3.9115371236
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.8816411023
MESH:D009232 Myxoma Raloxifene 5.4716343187
MESH:D009336 Necrosis marker/mechanism 14723717
MESH:D009362 Neoplasm Metastasis marker/mechanism 17704422
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.5119393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4919410462
MESH:D009369 Neoplasms Fluorouracil 8.0118600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 8.0117405874
MESH:D009369 Neoplasms sodium arsenite 8.0111559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.5820056578
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.9219196722 19200415 19189210
MESH:D009436 Neural Tube Defects 5-methyltetrahydrofolate 17.0317413090
MESH:D009436 Neural Tube Defects Arsenic 17.0316620997
MESH:D009436 Neural Tube Defects Folic Acid 17.0317438019
MESH:D009436 Neural Tube Defects sodium arsenite 17.0312854658
OMIM:601634 NEURAL TUBE DEFECTS, FOLATE-SENSITIVE marker/mechanism
MESH:D020078 Neurogenic Inflammation Arsenic 4.2917056641
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.3816436463
MESH:D009503 Neutropenia Folic Acid 4.4216322990
MESH:D009765 Obesity Clozapine 7.5418515891 19142110
MESH:D009765 Obesity olanzapine 7.5418515891
MESH:D009765 Obesity pirinixic acid 7.5420558911
OMIM:119530 OROFACIAL CLEFT 1 marker/mechanism
MESH:D010024 Osteoporosis Raloxifene 3.3419059307 17882678 15775268
MESH:D015663 Osteoporosis, Postmenopausal Raloxifene 4.1415758505 17823083 15579764 17893378
MESH:D010051 Ovarian Neoplasms Arsenic 4.9417306315
MESH:D010051 Ovarian Neoplasms sodium arsenite 4.9415276417 17306315
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.6319003803 16929163 15113037 16500647
MESH:D010300 Parkinson Disease Homocysteine 3.5416275827
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.0916093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 4.906392382 15371236 16905509
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma marker/mechanism 16706930
MESH:D054198 Precursor Cell Lymphoblastic Leukemia-Lymphoma Cytarabine 4.3921297632
MESH:D011471 Prostatic Neoplasms marker/mechanism 17967524
MESH:D011471 Prostatic Neoplasms Arsenic 1.8816140617
MESH:D011471 Prostatic Neoplasms Fluorouracil 1.8818626508 19082440
MESH:D011471 Prostatic Neoplasms Raloxifene 1.8816536755 15731164 16220300
MESH:D011471 Prostatic Neoplasms sodium arsenite 1.8816039940
MESH:D011471 Prostatic Neoplasms Tamoxifen 1.8815067354
MESH:D011507 Proteinuria Arsenic 3.9221343184
MESH:D011565 Psoriasis Methotrexate 3.4017410198
MESH:D011595 Psychomotor Agitation olanzapine 5.5018685284
MESH:D011618 Psychotic Disorders Clozapine 4.1215331141
MESH:D011693 Purpura Raloxifene 5.4715770314
MESH:D012004 Rectal Neoplasms Fluorouracil 3.9318286688 18722050 16160472 15538739
MESH:D051437 Renal Insufficiency Folic Acid 10.4115728788
MESH:D051437 Renal Insufficiency Methotrexate 10.4117352296
MESH:D015427 Reperfusion Injury Leucovorin 6.9117295595
MESH:D015427 Reperfusion Injury pirinixic acid 6.9119058328
MESH:D012559 Schizophrenia marker/mechanism 18583979 16641680 17074966
MESH:D012559 Schizophrenia Clozapine 10.5211763009 20168265 20452607 20521320 20521326 16141801 17726453 18855531 20107430 11151749 20580759 17123785 18806925 17667964 19369910
MESH:D012559 Schizophrenia Folic Acid 10.5216641680
MESH:D012559 Schizophrenia Homocysteine 10.5216641680
MESH:D012559 Schizophrenia Methionine 10.5215737665
MESH:D012559 Schizophrenia olanzapine 10.5220107430 20521326 17726453
MESH:D012851 Sinus Thrombosis, Intracranial marker/mechanism 18941937
MESH:D012871 Skin Diseases marker/mechanism 17548696
MESH:D012871 Skin Diseases Arsenic 8.2716353154 6392382 17548696 16702368 16759981 19834688 15952646 17050553 17453740 18709164 17938729
MESH:D012871 Skin Diseases Folic Acid 8.2718709164
MESH:D012871 Skin Diseases Riboflavin 8.2718709164
MESH:D012878 Skin Neoplasms Arsenic 5.8117976673 17050553 17029826 19538983 15504454 16251483
MESH:D012878 Skin Neoplasms sodium arsenite 5.8119524636 18572023
MESH:D013088 Spermatocele Tamoxifen 4.2116709447
MESH:D013118 Spinal Cord Diseases marker/mechanism 16361298
MESH:D013118 Spinal Cord Diseases Folic Acid 5.4116361298
MESH:D013119 Spinal Cord Injuries Tamoxifen 3.9519457130
MESH:D016135 Spinal Dysraphism sodium arsenite 3.7312854658
MESH:D013274 Stomach Neoplasms marker/mechanism 18505952
MESH:D013274 Stomach Neoplasms Fluorouracil 2.8219084572 16951190 17522103 18396642 15786421 16424979 17498489 18567086 17172411 19015929
MESH:D013274 Stomach Neoplasms Folic Acid 2.8217171786
MESH:D020521 Stroke marker/mechanism 16681562
MESH:D020521 Stroke Folic Acid 14.4216517955
MESH:D020521 Stroke Raloxifene 14.4216837676
MESH:D020521 Stroke Riboflavin 14.4216517955
MESH:D013576 Syndactyly Methotrexate 4.959562676
MESH:D017180 Tachycardia, Ventricular olanzapine 5.2520210726
MESH:D019851 Thrombophilia marker/mechanism 17493413
MESH:D013971 Thyrotoxicosis marker/mechanism 18941937
MESH:D013978 Tibial Fractures Raloxifene 5.1319048282
MESH:D014062 Tongue Neoplasms Fluorouracil 3.9116280240
MESH:D001749 Urinary Bladder Neoplasms Arsenic 11.6919429237 11144890 18640142 19322015 15987713 17976673 17306315
MESH:D001749 Urinary Bladder Neoplasms Raloxifene 11.6917572228
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 11.6917306315 11723127 16452187 16712894
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 11.6917572228 8653321 16712894
MESH:D002583 Uterine Cervical Neoplasms marker/mechanism 17303386
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.2216803524
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 9.2211813266
MESH:D014652 Vascular Diseases Arsenic 11.5617056641
MESH:D014652 Vascular Diseases sodium arsenite 11.5617056641
MESH:D054556 Venous Thromboembolism Raloxifene 5.1316837676
MESH:D014846 Vulvar Neoplasms Raloxifene 5.4716343187
MESH:D015430 Weight Gain Clozapine 10.0920521320 20564506 16141801 17502770 16402076 20107430
MESH:D015430 Weight Gain olanzapine 10.0919434072 17933447 20107430
MESH:D015431 Weight Loss Clozapine 4.9917933447
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:11193 Metabolism of vitamins and cofactors
KEGG:00670 One carbon pool by folate
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA245
    • Releated gene ID Related gene Name
    PA245MTHFR
    PA36679TP53
    Releated disease ID Related disease Name
    PA443425Arteriosclerosis
    PA444320Graft vs Host Disease
    PA445601Osteosarcoma
    PA443223Congenital Abnormalities
    PA445707Spinal Cord Diseases
    PA446975Neurotoxicity Syndromes
    PA444368Heart Diseases
    PA445454Psychophysiologic Disorders
    PA134850558Macular Degeneration
    PA443635Cardiovascular Diseases
    PA443433Arthritis, Juvenile Rheumatoid
    PA446169Leukemia, Lymphocytic, Chronic, B-Cell
    PA444845Lymphoma, Non-Hodgkin
    PA165817398Myelosuppression
    PA164925725Toxic liver disease
    PA443314Alopecia
    PA443937Drug Toxicity
    PA445846Thrombocytopenia
    PA445742Stomach Neoplasms
    PA447054Stroke
    PA443797Coronary Disease
    PA445105Neurologic Manifestations
    PA446171Leukemia, Myelogenous, Chronic, BCR-ABL Positive
    PA134850491Transplantation
    PA446180Leukemia, Promyelocytic, Acute
    PA446166Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
    PA446892Hyperhomocysteinemia
    PA445204Ovarian Neoplasms
    PA443269Adenoma
    PA446108Colorectal Neoplasms
    PA444750Leukemia
    PA444818Lung Neoplasms
    PA443756Colonic Neoplasms
    PA128407012cancer or viral infections
    PA443434Arthritis, Rheumatoid
    PA444938Metabolic Diseases
    PA447216Schizophrenia
    PA444552Hypertension
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA444487Homocystinuria
    PA443560Breast Neoplasms
    PA445095Neural Tube Defects
    PA444880Marfan Syndrome
    PA446974Choroidal Neovascularization
    PA445062Neoplasms
    PA443899Diarrhea
    PA445113Neutropenia
    PA443319Alzheimer Disease
    PA162370415metabolic syndrome
    PA445503Rectal Neoplasms
    PA446286Spina Bifida Cystica
    PA443622Carcinoma, Non-Small-Cell Lung
    PA444367Heart Defects, Congenital
    Releated drug ID Related drug Name
    PA449167cyclosporine
    PA449247dexamethasone
    PA449014cisplatin
    PA151917012dactinomycin
    PA451846valproic acid
    PA452621antineoplastic agents
    PA131285527oxaliplatin
    PA164713220Pyrimidine analogues
    PA164712308Ace Inhibitors, Plain
    PA164712331Alkylating Agents
    PA452622antimetabolites
    PA452229antidepressants
    PA448771capecitabine
    PA451089pravastatin
    PA449789glycine
    PA451330l-serine
    PA451892cyanocobalamin
    PA451897pyridoxine
    PA449165cyclophosphamide
    PA449383docetaxel
    PA449412doxorubicin
    PA450761paclitaxel
    PA451729topotecan
    PA131625240raltitrexed
    PA451547sulfasalazine
    PA448492asparaginase
    PA449177cytarabine
    PA449212daunorubicin
    PA449552etoposide
    PA450198leucovorin
    PA450379mercaptopurine
    PA450428methotrexate
    PA451100prednisone
    PA451879vincristine
    PA143485705antiepileptics
    PA449692folic acid
    PA451871verteporfin
    PA128406956fluorouracil
    PA450085irinotecan
    PA450645nitrous oxide
    PA452233antipsychotics
    PA448803carboplatin
    PA10810pemetrexed
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00116 - Tetrahydrofolic acid Dietary supplement;Micronutrient
    Drugbank ID Action Drug Name Description
    DB00114 - Pyridoxal Phosphate Dietary supplement;Micronutrient;Vitamin B Complex
    DB00115 - Liver-Stomach Concentrate with Intrinsic Factor Antianemic Agents;Essential Vitamin;Vitamins (Vitamin B Complex)
    DB00116 - Tetrahydrofolic acid Dietary supplement;Micronutrient
    DB00118 - S-Adenosylmethionine Dietary supplement;Micronutrient
    DB00134 - L-Methionine Dietary supplement;Micronutrient;Essential Amino Acids
    DB00140 - Riboflavin Vitamins (Vitamin B Complex);Radiation-Sensitizing Agents;Photosensitizing Agents;Vitamin B Complex
    DB00158 - Folic Acid Dietary supplement;Micronutrient;Vitamin B Complex;Hematinics
    DB00165 - Pyridoxine Essential Vitamin;Vitamins (Vitamin B Complex);Anti-inflammatory Agents;Vitamin B Complex
    DB00170 - Menadione Dietary supplement;Micronutrient;Antifibrinolytic Agents;Vitamins/minerals;Vitamins
    DB00293 - Raltitrexed Antineoplastic Agents;Antimetabolites;Enzyme Inhibitors;Folic Acid Antagonists;Antimetabolites, Antineoplastic
    DB00542 substrate Lotrel Antihypertensive Agents;Angiotensin-converting Enzyme Inhibitors
    DB00563 - Methotrexate Antineoplastic Agents;Antirheumatic Agents;Antimetabolites;Enzyme Inhibitors;Folic Acid Antagonists;Dermatologic Agents;Immunosuppressive Agents;Nucleic Acid Synthesis Inhibitors;Abortifacient Agents, Nonsteroidal;Abortifacient Agents;Antimetabolites, Antineoplastic
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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