AutismKB 2.0

Annotation Detail for MCFD2


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Basic Information Top
Gene Symbol:MCFD2 ( DKFZp686G21263,F5F8D,LMAN1IP,SDNSF )
Gene Full Name: multiple coagulation factor deficiency 2
Band: 2p21
Quick LinksEntrez ID:90411; OMIM: 607788; Uniprot ID:MCFD2_HUMAN; ENSEMBL ID: ENSG00000180398; HGNC ID: 18451
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Circulatory system diseases
Hematologic diseases
H00221Combined deficiency of factors V and VIII
No data
No data
No data
Desease Name
Factor V and factor VIII, combined deficiency of
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of MCFD2 mRNAincreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of MCFD2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of MCFD2 mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A results in increased expression of MCFD2 mRNAincreases expression 17912697
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of MCFD2 mRNAdecreases expression 15003993
D002995 Clofibric Acid Clofibric Acid affects the expression of MCFD2 mRNAaffects expression 17602206
D016572 Cyclosporine Cyclosporine results in increased expression of MCFD2 mRNAincreases expression 20106945
D004958 Estradiol Estradiol affects the expression of MCFD2 mRNAaffects expression 15598610
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of MCFD2 mRNAincreases expression 17912697
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of MCFD2 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of MCFD2 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of MCFD2 mRNAdecreases expression 17108234
C025299 polyphenols polyphenols results in decreased expression of MCFD2 mRNAdecreases expression 16293270
D013629 Tamoxifen Tamoxifen affects the expression of MCFD2 mRNAaffects expression 17555576
D014501 Uranium Uranium affects the expression of MCFD2 mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of MCFD2 mRNAaffects expression 15672453
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.6814745880
MESH:D000138 Acidosis Ammonium Chloride 3.6818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0817505938
MESH:D000230 Adenocarcinoma Estradiol 4.2811473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.2814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.803712494
MESH:D000799 Angioedema Acetaminophen 3.9810982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7115885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1511289319 1440618
MESH:D001862 Bone Resorption bisphenol A 3.9411985600
MESH:D001943 Breast Neoplasms bisphenol A 1.9117123778
MESH:D001943 Breast Neoplasms Estradiol 1.9117261762 12948864 19861407 17289903 18497071 14630087 16675129 17018787
MESH:D001943 Breast Neoplasms Tamoxifen 1.9120065188 19084267 16273361 17893378 16873071 11161223 18984771 18855134 16818667 19221464 19289846 21152245 19103187 19115204 19288272 18815881 20005174 18629630 19410462 20135344 17049068 17261762 19487384 19142967 18997820 15565566 18351453 15668708 17242785 19189212 20859285 19011961 19059307 16202921 21138602 20544844 17440819 19189210 18425577 19200415 18821012 19155303 19066611 19244106 20390343
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5816111702
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6119066611
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.657296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.653084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.6516924424
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.6516924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.1117123778
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.717296757
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.6917572228
MESH:D002386 Cataract Acetaminophen 2.6310977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.477505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 11.4712371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.4718566989
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 13.7419486331 9022650
MESH:D002779 Cholestasis Cyclosporine 13.7419486331
MESH:D002779 Cholestasis Ethinyl Estradiol 13.7415861022 16919318 17333356 16105132 17110522 11677210 17681005
MESH:D003110 Colonic Neoplasms polyphenols 2.6816293270
MESH:D003711 Demyelinating Diseases Tamoxifen 4.4719031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.908156756 11906362 18759878 8970840 11298694 2524372 14531868 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.583621924 2952479
MESH:D003928 Diabetic Nephropathies Estradiol 9.0819279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 9.0819279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.4118692083 1440618 6482804 9328219 11289319 16192314 18289764 9653073 9022650 8291058 7440962 18648102 6679447
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4116081117 12958197 11834606 12705907 14986274 10663392 16227642 19739265 19923254 11287661 19085960 11529661 12594235 14725611 19164858 15968718 18713872 16781746 2444490 17522070 12392966 19416960 16393943 11461765 12153990 18071297 12540782 10915739 15619225 17906064 14550746 11421492 11743745 10774834 17562736 16109766 16485898 16177239 19420014 19370779 11739529
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.4119370779
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2319426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.2612538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.2619031437
MESH:D016889 Endometrial Neoplasms Estradiol 7.5618566989 11473722 19148513
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.5620544844 19155303 17893378 16202921
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.123581430
OMIM:227300 FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 marker/mechanism
MESH:D005234 Fatty Liver Cyclosporine 13.5419224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.5415345470
MESH:D005234 Fatty Liver Tamoxifen 13.5414986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.2816709447
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.156705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6414745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3019069698
MESH:D005355 Fibrosis Cyclosporine 3.2412639820 12168785
MESH:D005756 Gastritis Acetaminophen 3.8116983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.127505956
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.616705139
MESH:D006558 Herpes Genitalis Estradiol 5.1715709030
MESH:D019584 Hot Flashes Estradiol 3.8917088409
MESH:D006930 Hyperalgesia Acetaminophen 2.7616870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0415034207
MESH:D006973 Hypertension Cyclosporine 2.1210903974
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9116569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5417937319
MESH:D007249 Inflammation polyphenols 5.4616366677
MESH:D007249 Inflammation Tamoxifen 5.4619457130
MESH:D007333 Insulin Resistance bisphenol A 7.6116393666
MESH:D007333 Insulin Resistance Estradiol 7.6116393666 16627594
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.159022650 8074119
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Acetaminophen 10.2415629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 10.248314463 10903974 18776723
MESH:D007674 Kidney Diseases Estradiol 10.2415618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.336582329
MESH:D007680 Kidney Neoplasms Cyclosporine 18.3312371664
MESH:D007680 Kidney Neoplasms Estradiol 18.3315610895
MESH:D007680 Kidney Neoplasms Tamoxifen 18.3318625569
MESH:D008064 Lipidoses Tamoxifen 3.2115342952 17567588
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2415034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 2.4614659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.4618564211
MESH:D008107 Liver Diseases Acetaminophen 4.2211587558 19460945 16611625 19784758 16610002 19014921 12587719 12969438
MESH:D008107 Liver Diseases polyphenols 4.2216698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3117185352 16871587
MESH:D008113 Liver Neoplasms Clofibric Acid 4.8517602206
MESH:D008113 Liver Neoplasms Tamoxifen 4.8516684651
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.586587162 598648 1399818 3712494
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.8819428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.1416891317 11807958 17203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.1416827153 11731420 19196722 14580682 19196723
MESH:D020149 Manganese Poisoning Estradiol 13.1019453300
MESH:D020149 Manganese Poisoning Tamoxifen 13.1019453300
MESH:D008545 Melanoma Tamoxifen 1.8912393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3015990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6719513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.3416810080
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.793581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.7919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5419410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1319189210 19196722 19200415
MESH:D009389 Neovascularization, Pathologic Estradiol 3.8517289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations bisphenol A 10.0616427766 11399458
MESH:D009421 Nervous System Malformations Estradiol 10.0611399458 16427766
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.966679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9418514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.506482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.153988306
MESH:D010049 Ovarian Diseases bisphenol A 5.1111985600
MESH:D010051 Ovarian Neoplasms Estradiol 2.2419401270
MESH:D010146 Pain Acetaminophen 2.4616870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7711578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.597296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.606228378
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.0710548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.8320887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.8320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.5516740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.5516740699
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5515067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.4315861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D011629 Puberty, Precocious bisphenol A 4.9010548101
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.433692021
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.728532709
MESH:D013088 Spermatocele Ethinyl Estradiol 12.0116709447
MESH:D013088 Spermatocele Tamoxifen 12.0116709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.1519457130
MESH:D019966 Substance-Related Disorders bisphenol A 4.1016684133 16045194
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.3917997062
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7111994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2215669648
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.951399818 3712494 6587162 6582329 7505956
MESH:D013978 Tibial Fractures Estradiol 4.8219048282
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.138074119
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.1317572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.0610982225
MESH:D014591 Uterine Diseases bisphenol A 5.1414652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3914692618
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6215869587 14671159
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
REACT:17015 Metabolism of proteins
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00025 - Antihemophilic Factor Coagulants;Thrombotic Agents
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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