AutismKB 2.0

Annotation Detail for MVK


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Basic Information Top
Gene Symbol:MVK ( FLJ96772,LRBP,MK,MVLK )
Gene Full Name: mevalonate kinase
Band: 12q24.11
Quick LinksEntrez ID:4598; OMIM: 251170; Uniprot ID:KIME_HUMAN; ENSEMBL ID: ENSG00000110921; HGNC ID: 7530
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-922mevalonate pathway I
PWY-5910superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate)
PWY66-5superpathway of cholesterol biosynthesis
Pathway IDPathway Name
hsa00900Terpenoid backbone biosynthesis
hsa01100Metabolic pathways
hsa04146Peroxisome
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
Pathway IDPathway Name
P00014Cholesterol biosynthesis
Pathway IDPathway Name
500825Cholesterol biosynthesis
Related Diseases/Disorders Top
Desease IDDesease Name
H00206Mevalonate kinase deficiency
Inherited disorders of lipid/glycolipid metabolism
Genetic disorders
Desease IDDesease Name
2120Rabies
2225Gram-Negative bacterial infection
Desease Name
HDL cholesterol
METABOLIC
mevalonate kinase deficiency
Desease Name
HDL cholesterol
Desease Name
Hyper-IgD syndrome
Mevalonic aciduria
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C003585 22-hydroxycholesterol 22-hydroxycholesterol results in decreased expression of MVK mRNAdecreases expression 19426978
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of MVK mRNAdecreases expression 18648102
C065250 4-hydroxy-equilenin 4-hydroxy-equilenin results in decreased expression of MVK mRNAdecreases expression 15135645
D000082 Acetaminophen Acetaminophen affects the expression of MVK mRNAaffects expression 17562736
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of MVK proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in decreased expression of MVK mRNAdecreases expression 20106945
C045651 epigallocatechin gallate epigallocatechin gallate results in decreased expression of MVK mRNAdecreases expression 16988119
D005419 Flavonoids Flavonoids results in decreased expression of MVK mRNAdecreases expression 18035473
D010852 Picrotoxin Picrotoxin results in increased expression of MVK mRNAincreases expression 15170462
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of MVK mRNAaffects binding|decreases expression|increases activity 19710929
D011374 Progesterone Progesterone results in increased expression of MVK mRNAincreases expression 18070364
D012643 Selenium Selenium results in increased expression of MVK mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of MVK mRNAincreases expression 18175754
C032910 triadimefon triadimefon results in increased expression of MVK mRNAincreases expression 19423681
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.783712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5616434500
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D001249 Asthma epigallocatechin gallate 3.4016516891
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001327 Autoimmune Diseases epigallocatechin gallate 5.1419761891
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1211289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2019483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4317868700
MESH:D001930 Brain Injuries Progesterone 4.3315665606 15380490 15845082
MESH:D001943 Breast Neoplasms Progesterone 2.4516175315 17614352 15562024
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.583581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.583084413
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 4.5821507988 12907637 12619106
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.707296757
MESH:D002386 Cataract Acetaminophen 2.6110977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.697505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.6912371664
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.629022650 19486331
MESH:D002779 Cholestasis Cyclosporine 13.6219486331
MESH:D002779 Cholestasis pirinixic acid 13.6219176532
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8215894690
MESH:D002972 Cleft Palate triadimefon 3.7516781842
MESH:D003092 Colitis Selenium 3.8517936198
MESH:D019465 Craniofacial Abnormalities triadimefon 2.8816875885 15834900
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.878156756 12868966 2524372 18759878 14531868 8970840 11298694 11906362
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.552952479 3621924
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8216285004
MESH:D003924 Diabetes Mellitus, Type 2 epigallocatechin gallate 3.2916988119
MESH:D003929 Diabetic Neuropathies Progesterone 4.5617187935
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 9.1218648102 18692083 9328219 18289764 7440962 9653073 6679447 6482804 11289319 8291058 9022650 1440618 16192314
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.1212540782 16081117 2444490 17522070 12594235 18071297 19923254 12705907 18713872 11287661 16393943 16781746 19420014 14986274 19085960 17906064 16177239 11834606 16485898 19739265 10774834 19416960 19370779 16109766 12392966 14725611 17562736 16227642 14550746 11461765 15619225 11421492 15968718 10915739 11529661 12958197 11739529 12153990 19164858 10663392 11743745
MESH:D056486 Drug-Induced Liver Injury Selenium 9.1215131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.1215131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004487 Edema pirinixic acid 2.5312083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8417692515
MESH:D004715 Endometriosis Progesterone 3.8216134523
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.123581430
MESH:D005234 Fatty Liver Cyclosporine 7.7419224547
MESH:D005234 Fatty Liver pirinixic acid 7.7420131406 19236843
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.126705139
MESH:D005355 Fibrosis Cyclosporine 3.2112639820 12168785
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.308708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.107505956
MESH:D006333 Heart Failure pirinixic acid 7.0620558911
MESH:D006333 Heart Failure Selenium 7.0617162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5015720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.586705139
MESH:D006529 Hepatomegaly pirinixic acid 9.1016221962 18467677 19176532 19772884
MESH:D006529 Hepatomegaly triadimefon 9.1017178688 17178689
MESH:D006930 Hyperalgesia Acetaminophen 2.7416870215
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
OMIM:260920 HYPER-IgD SYNDROME marker/mechanism
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0115034207
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4715869954
MESH:D007249 Inflammation Flavonoids 5.3617296493
MESH:D007249 Inflammation Progesterone 5.3615869954
MESH:D007251 Influenza, Human Selenium 4.2916624496
MESH:D007333 Insulin Resistance pirinixic acid 7.4216306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.4214714311
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.128074119 9022650
MESH:D007569 Jaw Abnormalities triadimefon 5.0115834900 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5415604871
MESH:D007674 Kidney Diseases Acetaminophen 5.8915629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 5.8918776723 10903974 8314463
MESH:D007676 Kidney Failure, Chronic Selenium 3.9416518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.426582329
MESH:D007680 Kidney Neoplasms Cyclosporine 7.4212371664
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.239327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental epigallocatechin gallate 2.7417481882
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.7415474484
MESH:D008107 Liver Diseases Acetaminophen 4.3519460945 16610002 11587558 16611625 19014921 12587719 19784758 12969438
MESH:D008107 Liver Diseases triadimefon 4.3519363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2917185352 16871587
MESH:D008113 Liver Neoplasms Aflatoxin B1 7.689163691 18177683 2125692 15890375
MESH:D008113 Liver Neoplasms pirinixic acid 7.6815890375 20007298 16377806
MESH:D008113 Liver Neoplasms triadimefon 7.6819028983
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 10.211399818 3712494 598648 6587162
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 10.218603461
MESH:D008114 Liver Neoplasms, Experimental triadimefon 10.2117178689
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8714755239
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1214737004
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 6.2411408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.2415318939
MESH:D008545 Melanoma epigallocatechin gallate 2.9917992120 11746506
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008654 Mesothelioma Selenium 2.8115107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.8816801185
MESH:D054078 Mevalonate Kinase Deficiency marker/mechanism 17596604 18008182
MESH:D009134 Muscular Atrophy, Spinal epigallocatechin gallate 5.5717962980
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.493581430
MESH:D009369 Neoplasms pirinixic acid 1.9717405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3318481113 19348381
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.956679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.474026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.123988306
MESH:D010051 Ovarian Neoplasms Progesterone 2.5416525653 17393432
MESH:D010146 Pain Acetaminophen 2.4316870215
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.557296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.576228378
MESH:D010954 Plasmacytoma Selenium 4.9915087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.2712371664
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3918760546
MESH:D011565 Psoriasis Cyclosporine 2.2416882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.413692021
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8718045962
MESH:D012640 Seizures Picrotoxin 4.038635557 8954991
MESH:D013119 Spinal Cord Injuries Progesterone 4.3616503802 15862959
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.666582329 7505956 3712494 6587162 1399818
MESH:D013964 Thyroid Neoplasms triadimefon 7.6617178689
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.298074119
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D014605 Uveitis Cyclosporine 4.081336536
MESH:D014985 Xerophthalmia Cyclosporine 4.5417120751
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:04146 Peroxisome
KEGG:00900 Terpenoid backbone biosynthesis
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB04695 - FARNESYL THIOPYROPHOSPHATE
No data
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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