AutismKB 2.0

Annotation Detail for NEFH


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Basic Information Top
Gene Symbol:NEFH ( NFH )
Gene Full Name: neurofilament, heavy polypeptide
Band: 22q12.2
Quick LinksEntrez ID:4744; OMIM: 162230; Uniprot ID:NFH_HUMAN; ENSEMBL ID: ENSG00000100285; HGNC ID: 7737
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05014Amyotrophic lateral sclerosis (ALS)
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Nervous system diseases
Neurodegenerative diseases
H00058Amyotrophic lateral sclerosis
Desease IDDesease Name
1821Spinal cord disease
2134Amyotrophic lateral sclerosis
Desease Name
motor neuron disease
NEUROLOGICAL
No data
Desease Name
Amyotrophic lateral sclerosis, susceptibility to
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of NEFH mRNAincreases expression 16788091
D000448 Aldicarb Aldicarb results in increased phosphorylation of NEFH proteinincreases phosphorylation 16256972
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NEFH mRNAaffects expression 16483693
D000643 Ammonium Chloride Ammonium Chloride affects the expression of NEFH proteinaffects expression 16483693
D001151 Arsenic Arsenic metabolite affects the expression of NEFH mRNAaffects expression 17553662
D012721 Carbaryl Carbaryl results in increased phosphorylation of NEFH proteinincreases phosphorylation 16256972
D002246 Carbon Disulfide Carbon Disulfide results in decreased expression of NEFH proteindecreases expression 17120161
16474999
D002246 Carbon Disulfide Carbon Disulfide results in increased expression of NEFH mRNAincreases expression 17120161
D003513 Cycloheximide Cycloheximide results in decreased expression of NEFH mRNAdecreases expression 19146868
C014347 decitabine decitabine affects the expression of NEFH mRNAaffects expression 17145863
D003976 Diazinon Diazinon results in decreased expression of NEFH proteindecreases expression 17239417
D003976 Diazinon Diazinon affects the expression of NEFH mRNAaffects expression 17452286
D004026 Dieldrin Dieldrin results in decreased expression of NEFH mRNAdecreases expression 18812211
D004958 Estradiol Estradiol affects the expression of NEFH mRNAaffects expression 14699072
D008550 Melatonin Melatonin analog results in decreased phosphorylation of NEFH proteindecreases phosphorylation 18231852
D008550 Melatonin Melatonin results in decreased phosphorylation of NEFH proteindecreases phosphorylation 18231852
C014655 methamidophos methamidophos affects the expression of NEFH proteinaffects expression 15938848
D008942 Mitoxantrone NEFH protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
C091888 monoisoamyl-2,3-dimercaptosuccinate monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of NEFH mRNA]decreases expression|decreases reaction 19615344
C091888 monoisoamyl-2,3-dimercaptosuccinate monoisoamyl-2,3-dimercaptosuccinate results in decreased expression of NEFH mRNAdecreases expression 19615344
D009020 Morphine Morphine results in increased expression of NEFH mRNAincreases expression 15183518
D010269 Paraquat Paraquat results in decreased expression of NEFH mRNAdecreases expression 19146868
D010278 Parathion Parathion results in decreased expression of NEFH mRNAdecreases expression 19146868
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of NEFH mRNAaffects binding|decreases expression|increases activity 19710929
D011374 Progesterone Progesterone results in decreased expression of NEFH mRNAdecreases expression 18070364
C017947 sodium arsenite monoisoamyl-2,3-dimercaptosuccinate inhibits the reaction [sodium arsenite results in decreased expression of NEFH mRNA]decreases expression|decreases reaction 19615344
C017947 sodium arsenite sodium arsenite results in decreased expression of NEFH mRNAdecreases expression 19615344
D013629 Tamoxifen Tamoxifen affects the expression of NEFH mRNAaffects expression 14699072
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.4214745880
MESH:D000138 Acidosis Ammonium Chloride 3.4318287403
MESH:D055371 Acute Lung Injury pirinixic acid 2.9918653653
MESH:D000230 Adenocarcinoma Estradiol 2.0711473722
MESH:D000236 Adenoma Melatonin 4.2917195641
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.3516434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.5715276417
MESH:D018246 Adrenocortical Adenoma Arsenic 13.3617306315
MESH:D018246 Adrenocortical Adenoma sodium arsenite 13.3617306315 16712894
MESH:D000382 Agricultural Workers' Diseases Diazinon 13.8916487989
MESH:D000382 Agricultural Workers' Diseases Paraquat 13.8911874814
MESH:D000382 Agricultural Workers' Diseases Parathion 13.8911874814 17119214
MESH:C531617 Amyotrophic lateral sclerosis 1 marker/mechanism
MESH:D020261 Arsenic Poisoning Arsenic 2.8312569548 16835338 18414634 16251483
MESH:D050197 Atherosclerosis Arsenic 7.2412928151 19371607
MESH:D050197 Atherosclerosis Carbon Disulfide 7.2410658303 10367350
MESH:D001321 Autistic Disorder Melatonin 3.4216897403 16919138
MESH:D001342 Autonomic Nervous System Diseases methamidophos 6.6411527224
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.0319483382
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.2117868700
MESH:D001930 Brain Injuries Progesterone 4.1315665606 15845082 15380490
MESH:D002545 Brain Ischemia Morphine 5.0119211983
MESH:D001943 Breast Neoplasms decitabine 2.9218320071 19208741
MESH:D001943 Breast Neoplasms Dieldrin 2.9215770527 11859874
MESH:D001943 Breast Neoplasms Estradiol 2.9219861407 12948864 17289903 17018787 18497071 16675129 14630087 17261762
MESH:D001943 Breast Neoplasms Parathion 2.9212762645
MESH:D001943 Breast Neoplasms Progesterone 2.9217614352 15562024 16175315
MESH:D001943 Breast Neoplasms Tamoxifen 2.9217261762 20065188 19288272 16273361 18351453 21138602 18855134 20859285 19011961 19289846 20544844 19200415 17049068 16202921 11161223 19059307 17893378 21152245 20390343 19142967 19189212 17242785 19221464 16873071 19189210 20005174 20135344 19066611 18629630 17440819 19115204 18425577 19084267 18984771 15668708 19244106 19155303 16818667 18815881 19410462 15565566 19103187 19487384 18821012 18997820
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.3316111702
MESH:D002252 Carbon Tetrachloride Poisoning Melatonin 5.1815700767
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.5215504454 17687452
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.3819066611
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.4317306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.4316924424
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 6.4315276417 17306315 16507464
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 6.4316924424
MESH:D002294 Carcinoma, Squamous Cell Arsenic 7.4117687452 15504454 18922899
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.4119215824
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.4118572023
MESH:D002295 Carcinoma, Transitional Cell Arsenic 9.1118640142
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 9.1117572228
MESH:D002318 Cardiovascular Diseases Arsenic 3.3617938729 15738583 19152805
MESH:D002340 Carotid Artery Diseases Arsenic 4.2018022660 16973168
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.4418566989
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 6.4420056578 19524636
MESH:D002779 Cholestasis pirinixic acid 2.7319176532
MESH:D003110 Colonic Neoplasms decitabine 2.3117616700
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D003711 Demyelinating Diseases Tamoxifen 4.2319031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.3718249437
MESH:D003928 Diabetic Nephropathies Estradiol 8.4719279558
MESH:D003928 Diabetic Nephropathies Tamoxifen 8.4719279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.3617187935
MESH:D003967 Diarrhea Morphine 4.392540324
MESH:D004417 Dyspnea Diazinon 4.6716487989
MESH:D004487 Edema pirinixic acid 2.3612083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 8.7417692515
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 8.7419031437
MESH:D004701 Endocrine Gland Neoplasms decitabine 4.9919294695
MESH:D016889 Endometrial Neoplasms Estradiol 7.1119148513 11473722 18566989
MESH:D016889 Endometrial Neoplasms Tamoxifen 7.1120544844 17893378 19155303 16202921
MESH:D004715 Endometriosis Progesterone 3.6516134523
MESH:D005234 Fatty Liver pirinixic acid 7.2719236843 20131406
MESH:D005234 Fatty Liver Tamoxifen 7.2714986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.1616709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.4014745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.0519069698
MESH:D005517 Foodborne Diseases methamidophos 7.0111527224
MESH:D005534 Foot Diseases Arsenic 5.436392382
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.5516452187
MESH:D005911 Gliosis Paraquat 5.0411124998
MESH:D006258 Head and Neck Neoplasms decitabine 3.4019215824
MESH:D006331 Heart Diseases Mitoxantrone 4.0616019553
MESH:D006333 Heart Failure pirinixic acid 2.4620558911
MESH:D006505 Hepatitis Diazinon 4.4516487989
MESH:D006529 Hepatomegaly pirinixic acid 2.8719176532 19772884 18467677 16221962
MESH:D006558 Herpes Genitalis Estradiol 4.9015709030
MESH:D006689 Hodgkin Disease sodium arsenite 3.0412676792
MESH:D019584 Hot Flashes Estradiol 3.6217088409
MESH:D006943 Hyperglycemia pirinixic acid 3.0720558911
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.3417050553
MESH:D006973 Hypertension Arsenic 2.8216076760 11953799 9931084
MESH:D006987 Hypesthesia Arsenic 5.4316093927
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.2715869954
MESH:D007247 Infertility, Female Dieldrin 4.8110630421
MESH:D007248 Infertility, Male decitabine 25.2717581917
MESH:D007248 Infertility, Male Diazinon 25.2716466525 12948887
MESH:D007248 Infertility, Male methamidophos 25.2710828210
MESH:D007248 Infertility, Male Paraquat 25.274850670
MESH:D007248 Infertility, Male Parathion 25.2716029889
MESH:D007248 Infertility, Male sodium arsenite 25.2712646999 15346721
MESH:D007249 Inflammation Progesterone 4.9415869954
MESH:D007249 Inflammation Tamoxifen 4.9419457130
MESH:D007333 Insulin Resistance Estradiol 6.9116393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 6.9116306350
MESH:D007642 Keratosis Arsenic 4.8616930632 12749816
MESH:D007674 Kidney Diseases Estradiol 5.8615618244
MESH:D007674 Kidney Diseases sodium arsenite 5.8620008137
MESH:D007680 Kidney Neoplasms Estradiol 7.0315610895
MESH:D007680 Kidney Neoplasms Tamoxifen 7.0318625569
MESH:D007938 Leukemia decitabine 3.0119235587 18980019
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.7318172266
MESH:D007951 Leukemia, Myeloid decitabine 3.8819117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.3619387464 18460780 18704418 19010910 18206229 17679729
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.3318055864
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.4717339181
MESH:D008064 Lipidoses Tamoxifen 3.0617567588 15342952
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 4.8914659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Melatonin 4.8916703270 15298665 15925388
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 4.8915474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 4.8918564211
MESH:D008107 Liver Diseases Arsenic 2.5111134558
MESH:D008113 Liver Neoplasms Arsenic 13.7416368122
MESH:D008113 Liver Neoplasms Dieldrin 13.749539021 8742319
MESH:D008113 Liver Neoplasms pirinixic acid 13.7416377806 15890375 20007298
MESH:D008113 Liver Neoplasms sodium arsenite 13.7415276417 16712894
MESH:D008113 Liver Neoplasms Tamoxifen 13.7416684651
MESH:D008171 Lung Diseases sodium arsenite 3.0819095001
MESH:D008175 Lung Neoplasms Arsenic 4.8317306315 19168569 17976673
MESH:D008175 Lung Neoplasms Melatonin 4.8317195641
MESH:D008175 Lung Neoplasms sodium arsenite 4.8317077188 15276417 17306315 19931552 16712894
MESH:D008175 Lung Neoplasms Tamoxifen 4.8318625569
MESH:D008180 Lupus Erythematosus, Systemic Melatonin 3.8816373423
MESH:D008223 Lymphoma decitabine 3.3319470736
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.6319428831
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 9.4816891317 11807958 11408345 17203775
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 9.4817203775 11408345
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 9.4819196722 11731420 19196723 14580682 16827153
MESH:D020149 Manganese Poisoning Estradiol 12.2219453300
MESH:D020149 Manganese Poisoning Tamoxifen 12.2219453300
MESH:D008545 Melanoma decitabine 5.0016505122 17785578
MESH:D008545 Melanoma sodium arsenite 5.0019082730 16487513
MESH:D008545 Melanoma Tamoxifen 5.0019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.0515990972
MESH:D009101 Multiple Myeloma decitabine 3.2518172295
MESH:D018908 Muscle Weakness methamidophos 6.6417849254
MESH:D009135 Muscular Diseases pirinixic acid 3.3816239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.3119010910 19157545 18608210 16882708
MESH:D009203 Myocardial Infarction pirinixic acid 2.0919151258
MESH:D017202 Myocardial Ischemia Arsenic 3.8815371236
MESH:D015428 Myocardial Reperfusion Injury Estradiol 7.9116810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 7.9116411023
MESH:D009336 Necrosis Melatonin 5.3312195237
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.4919393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.4719410462
MESH:D009369 Neoplasms decitabine 15.0817925555 19116145 19470736
MESH:D009369 Neoplasms Dieldrin 15.088820588
MESH:D009369 Neoplasms Mitoxantrone 15.0816640825
MESH:D009369 Neoplasms pirinixic acid 15.0817405874
MESH:D009369 Neoplasms sodium arsenite 15.0811559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.5420056578
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 3.8719200415 19189210 19196722
MESH:D009389 Neovascularization, Pathologic Estradiol 3.6017289903
MESH:D009410 Nerve Degeneration Paraquat 3.6116893418
MESH:D009422 Nervous System Diseases Carbon Disulfide 10.4210669001
MESH:D009422 Nervous System Diseases methamidophos 10.4215938848 2238440
MESH:D009421 Nervous System Malformations Estradiol 3.5216427766 11399458
MESH:D009436 Neural Tube Defects Arsenic 7.1816620997
MESH:D009436 Neural Tube Defects sodium arsenite 7.1812854658
MESH:D020078 Neurogenic Inflammation Arsenic 4.2517056641
MESH:D020258 Neurotoxicity Syndromes Aldicarb 8.7315081274
MESH:D020258 Neurotoxicity Syndromes Carbon Disulfide 8.7315315294
MESH:D009765 Obesity pirinixic acid 1.7820558911
MESH:D010051 Ovarian Neoplasms Arsenic 14.5517306315
MESH:D010051 Ovarian Neoplasms decitabine 14.5519259094 19331143
MESH:D010051 Ovarian Neoplasms Estradiol 14.5519401270
MESH:D010051 Ovarian Neoplasms Progesterone 14.5516525653 17393432
MESH:D010051 Ovarian Neoplasms sodium arsenite 14.5517306315 15276417
MESH:D010146 Pain Morphine 4.0815215642 16273134 6776300 20225289 18699797 15275824
MESH:D010190 Pancreatic Neoplasms decitabine 2.7219294695
MESH:D010300 Parkinson Disease Dieldrin 5.6216809432 17291500 16112328 11181820 11445065
MESH:D010300 Parkinson Disease Paraquat 5.6211124998 11445065 16140633 12911755 11181820 15451049 16510128 15824117
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.3016190885
MESH:D020734 Parkinsonian Disorders Carbon Disulfide 9.9015019297
MESH:D020734 Parkinsonian Disorders Melatonin 9.9015574749
MESH:D010523 Peripheral Nervous System Diseases marker/mechanism 10447555
MESH:D010523 Peripheral Nervous System Diseases Arsenic 10.1716093927
MESH:D010523 Peripheral Nervous System Diseases methamidophos 10.1710447555 7654138 2170085
MESH:D016491 Peripheral Vascular Diseases Arsenic 4.8616905509 6392382 15371236
MESH:D010538 Peritonitis Melatonin 5.1815707874
MESH:D011014 Pneumonia Paraquat 4.3212504350
MESH:D011041 Poisoning Diazinon 9.2017603234
MESH:D011041 Poisoning methamidophos 9.2017849254 16119251
MESH:D011115 Polyneuropathies methamidophos 5.957654138
MESH:D055728 Primary Myelofibrosis decitabine 4.6017616702
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.7620887781
MESH:D011471 Prostatic Neoplasms Arsenic 2.1016140617
MESH:D011471 Prostatic Neoplasms Estradiol 2.1016740699
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.1016039940
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.1015067354
MESH:D011507 Proteinuria Arsenic 3.8821343184
MESH:D011658 Pulmonary Fibrosis Paraquat 2.8616324872 17997886
MESH:D015427 Reperfusion Injury Morphine 6.6819211983
MESH:D015427 Reperfusion Injury pirinixic acid 6.6819058328
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 3.7811700416
MESH:D012135 Respiratory Sounds Paraquat 9.7511874814
MESH:D012135 Respiratory Sounds Parathion 9.7511874814 17119214
MESH:D012140 Respiratory Tract Diseases Parathion 5.4217119214
MESH:D012162 Retinal Degeneration Paraquat 3.7716458197
MESH:D012208 Rhabdomyosarcoma decitabine 4.2819155313
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8118045962
MESH:D012871 Skin Diseases Arsenic 2.7119834688 17050553 17938729 17548696 16702368 18709164 16353154 16759981 15952646 17453740 6392382
MESH:D012878 Skin Neoplasms Arsenic 5.7517976673 17050553 16251483 17029826 19538983 15504454
MESH:D012878 Skin Neoplasms sodium arsenite 5.7519524636 18572023
MESH:D012893 Sleep Disorders Melatonin 5.3316919138 18182647 16897403
MESH:D020178 Sleep Disorders, Circadian Rhythm Melatonin 6.5018078449 19452292
MESH:D007319 Sleep Initiation and Maintenance Disorders Melatonin 5.1218078449
MESH:D013088 Spermatocele Tamoxifen 4.1616709447
MESH:D013119 Spinal Cord Injuries Progesterone 10.4316503802 15862959
MESH:D013119 Spinal Cord Injuries Tamoxifen 10.4319457130
MESH:D016135 Spinal Dysraphism sodium arsenite 3.6912854658
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D013276 Stomach Ulcer Melatonin 4.3811523592 16150113 12500499
MESH:D013964 Thyroid Neoplasms decitabine 3.2317967635
MESH:D013978 Tibial Fractures Estradiol 4.5619048282
MESH:D001749 Urinary Bladder Neoplasms Arsenic 11.5517306315 11144890 19322015 18640142 15987713 17976673 19429237
MESH:D001749 Urinary Bladder Neoplasms decitabine 11.5517616700 19087683
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 11.5516452187 17306315 11723127 16712894
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 11.558653321 16712894 17572228
MESH:D014570 Urologic Diseases Diazinon 5.1516487989
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.6511813266
MESH:D014604 Uveal Neoplasms decitabine 4.7817785578
MESH:D014652 Vascular Diseases Arsenic 11.4117056641
MESH:D014652 Vascular Diseases sodium arsenite 11.4117056641
Pathway ID Pathway Name
KEGG:05014 Amyotrophic lateral sclerosis (ALS)
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  (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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