AutismKB 2.0

Annotation Detail for L1CAM


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Basic Information Top
Gene Symbol:L1CAM ( CAML1,CD171,HSAS,HSAS1,MASA,MIC5,N-CAML1,S10,SPG1 )
Gene Full Name: L1 cell adhesion molecule
Band: Xq28
Quick LinksEntrez ID:3897; OMIM: 308840; Uniprot ID:L1CAM_HUMAN; ENSEMBL ID: ENSG00000198910; HGNC ID: 6470
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04360Axon guidance
hsa04514Cell adhesion molecules (CAMs)
Pathway IDPathway Name
Axon guidance
Hemostasis
No data
No data
Pathway IDPathway Name
500097L1CAM interactions
500098Recycling pathway of L1
500099Interaction between L1 and Ankyrins
500100Signal transduction by L1
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1901Endometriosis
1934Cancer
2202Kidney tubular necrosis, acute
2159Hydrocephalus
Desease Name
ovarian cancer
CANCER
PSYCH
schizophrenia
No data
Desease Name
MASA syndrome
CRASH syndrome
Hydrocephalus with congenital idiopathic intestinal pseudoobstruction
Hydrocephalus due to aqueductal stenosis
Hydrocephalus with Hirschsprung disease and cleft palate
Corpus callosum, partial agenesis of
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C526209 3-azibutanol 3-azibutanol binds to and results in decreased activity of L1CAM proteinaffects binding|decreases activity 18165316
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of L1CAM mRNAdecreases expression 20018196
C006780 bisphenol A bisphenol A results in decreased expression of L1CAM mRNAdecreases expression 16474171
C006780 bisphenol A bisphenol A results in increased expression of L1CAM mRNAincreases expression 16902998
C459604 candoxin candoxin results in decreased expression of L1CAM mRNAdecreases expression 16309724
D004958 Estradiol Estradiol results in decreased expression of L1CAM mRNAdecreases expression 16474171
D000431 Ethanol Ethanol binds to and results in decreased activity of L1CAM proteinaffects binding|decreases activity 18165316
D000431 Ethanol Ethanol results in decreased activity of L1CAM proteindecreases activity 8609170
D000431 Ethanol Octanols analog inhibits the reaction [Ethanol binds to and results in decreased activity of L1CAM protein]affects binding|decreases activity|decreases reaction 18165316
D005472 Fluorouracil Fluorouracil results in decreased expression of L1CAM proteindecreases expression 15352031
D005472 Fluorouracil L1CAM protein affects the susceptibility to Fluorouracilaffects response to substance 15352031
D019833 Genistein Genistein results in decreased expression of L1CAM mRNAdecreases expression 16474171
D016685 Mitomycin L1CAM protein affects the susceptibility to Mitomycinaffects response to substance 16217747
D000442 Octanols Octanols analog binds to L1CAM proteinaffects binding 18165316
D000442 Octanols Octanols analog inhibits the reaction [Ethanol binds to and results in decreased activity of L1CAM protein]affects binding|decreases activity|decreases reaction 18165316
C006253 pirinixic acid pirinixic acid results in decreased expression of L1CAM mRNAdecreases expression 17426115
D011078 Polychlorinated Biphenyls Polychlorinated Biphenyls analog results in decreased expression of L1CAM mRNAdecreases expression 16474171
D011374 Progesterone Progesterone results in decreased expression of L1CAM mRNAdecreases expression 18070364
C017947 sodium arsenite sodium arsenite results in decreased expression of L1CAM mRNAdecreases expression 12016162
D014302 Trinitrobenzenesulfonic Acid Trinitrobenzenesulfonic Acid results in increased expression of L1CAM mRNAincreases expression 17982090
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 3.9718926900 17676605
MESH:D000138 Acidosis Ethanol 4.5511192467
MESH:D055371 Acute Lung Injury pirinixic acid 3.1518653653
MESH:D000230 Adenocarcinoma Estradiol 7.1911473722
MESH:D000230 Adenocarcinoma Fluorouracil 7.1917638652
MESH:D000230 Adenocarcinoma Genistein 7.1911473722
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5316434500
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.7615276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 4.9616712894 17306315
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.3815451040 15451039
MESH:D000740 Anemia Fluorouracil 3.7415504547 17963324 16511603
MESH:D000853 Anophthalmos Ethanol 4.8615513904
MESH:D001008 Anxiety Disorders Ethanol 4.0311141031
MESH:D001037 Aphasia marker/mechanism 7920660
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1719483382
MESH:D001862 Bone Resorption bisphenol A 3.8911985600
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.4017868700
MESH:D001930 Brain Injuries Progesterone 4.3015665606 15380490 15845082
MESH:D001943 Breast Neoplasms bisphenol A 2.3617123778
MESH:D001943 Breast Neoplasms Estradiol 2.3618497071 12948864 14630087 17289903 19861407 16675129 17261762 17018787
MESH:D001943 Breast Neoplasms Fluorouracil 2.3618608205 18357371 19217205 16110121 16557594 16595493 15136595
MESH:D001943 Breast Neoplasms Genistein 2.3616541309 16873071 17200150
MESH:D001943 Breast Neoplasms Progesterone 2.3616175315 15562024 17614352
MESH:D002056 Burns Ethanol 4.6916374292
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.5116111702
MESH:D002276 Carcinoid Tumor Fluorouracil 4.7316051944
MESH:D002277 Carcinoma Fluorouracil 3.5917121937
MESH:D006528 Carcinoma, Hepatocellular Estradiol 8.9416924424
MESH:D006528 Carcinoma, Hepatocellular Ethanol 8.9418788625 15289165 15763234
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 8.9417088986 17045692 18930000 16332177 16799960 17971768
MESH:D006528 Carcinoma, Hepatocellular Genistein 8.9416924424
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 8.9415276417 16507464 17306315
MESH:D002278 Carcinoma in Situ bisphenol A 5.0417123778
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0318695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.7918986760 16757204 16280240 17066447
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 4.7918572023
MESH:D006332 Cardiomegaly Ethanol 3.4519332462
MESH:D002318 Cardiovascular Diseases Genistein 3.3216332659
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.3120889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.3118566989
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 11.3119524636 20056578
MESH:D002779 Cholestasis pirinixic acid 2.8519176532
MESH:D002971 Cleft Lip Ethanol 3.6015513904
MESH:D002972 Cleft Palate Ethanol 3.1815513904
MESH:D003092 Colitis Trinitrobenzenesulfonic Acid 4.5916782535 11698051 17936198 16804969 18023891 18200517 17991707 16474422 16867261
MESH:D003093 Colitis, Ulcerative Trinitrobenzenesulfonic Acid 3.4517276891
MESH:D003110 Colonic Neoplasms Fluorouracil 3.8717169374 15001691 17018589 17725105 17287894 16510598 18772588 16340194 17172411 17016597
MESH:D003110 Colonic Neoplasms Genistein 3.8717182828
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.8716303861 18288408 18383874 17255274 17401013 18949393 17695437 17594712 18509181 14970324 17454858 17016601 20501625 15289873 17094418 16391804 18802399 18448328 15148649 16524972 16331619 16282729
MESH:D015179 Colorectal Neoplasms Polychlorinated Biphenyls 2.8715531428
OMIM:304100 CORPUS CALLOSUM, PARTIAL AGENESIS OF, X-LINKED marker/mechanism
MESH:D019465 Craniofacial Abnormalities Ethanol 2.3315451039 15451040 19302082 11873399 10194807 15513904 11198716
MESH:D007644 Darier Disease Fluorouracil 4.8416733453
MESH:D003704 Dementia Polychlorinated Biphenyls 4.7316140633
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4418249437
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 2.4916647724
MESH:D003928 Diabetic Nephropathies Estradiol 3.4419279558
MESH:D003929 Diabetic Neuropathies Progesterone 4.5317187935
MESH:D056486 Drug-Induced Liver Injury Ethanol 2.6111566570
MESH:D004487 Edema pirinixic acid 2.5112083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 3.8217692515
MESH:D004714 Endometrial Hyperplasia Genistein 4.6416402032
MESH:D016889 Endometrial Neoplasms Estradiol 7.5711473722 19148513 18566989
MESH:D016889 Endometrial Neoplasms Genistein 7.5711473722
MESH:D004715 Endometriosis Progesterone 3.7916134523
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.3720426865
MESH:D004938 Esophageal Neoplasms Ethanol 7.3716704527
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.3715173087 16785472 16337965 16481741 17638652
MESH:D005234 Fatty Liver Ethanol 7.9819236843 18620774 16409862
MESH:D005234 Fatty Liver pirinixic acid 7.9820131406 19236843
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.7317920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.3516946407 15451040 10194807 15513904
MESH:D005355 Fibrosis Trinitrobenzenesulfonic Acid 4.3917994277
MESH:D020233 Gait Disorders, Neurologic marker/mechanism 7920660
MESH:D005756 Gastritis Ethanol 4.7615046732
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.7316452187
MESH:D005909 Glioblastoma Genistein 3.2816598420
MESH:D005910 Glioma Fluorouracil 2.8816145905
MESH:D006228 Hand Deformities, Congenital marker/mechanism 7920660
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4018337622 15162350 15102660
MESH:D006333 Heart Failure pirinixic acid 2.5520558911
MESH:D006529 Hepatomegaly pirinixic acid 3.0416221962 19176532 19772884 18467677
MESH:D006558 Herpes Genitalis Estradiol 5.0915709030
MESH:D006627 Hirschsprung Disease marker/mechanism
MESH:D006689 Hodgkin Disease sodium arsenite 3.1812676792
MESH:D019584 Hot Flashes Estradiol 3.8117088409
OMIM:307000 HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS marker/mechanism
MESH:C536078 Hydrocephalus, X-linked marker/mechanism 7920659 7920660
MESH:D006930 Hyperalgesia Ethanol 3.7418783367
MESH:D006943 Hyperglycemia pirinixic acid 3.2120558911
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.4415869954
MESH:D007248 Infertility, Male sodium arsenite 3.0115346721 12646999
MESH:D007249 Inflammation Progesterone 2.6115869954
MESH:D015212 Inflammatory Bowel Diseases Trinitrobenzenesulfonic Acid 3.5918200517
MESH:D007333 Insulin Resistance bisphenol A 12.4216393666
MESH:D007333 Insulin Resistance Estradiol 12.4216393666 16627594
MESH:D007333 Insulin Resistance pirinixic acid 12.4216306350
MESH:D007410 Intestinal Diseases Trinitrobenzenesulfonic Acid 4.6517994277
MESH:D007569 Jaw Abnormalities Ethanol 4.4315513904
MESH:D007674 Kidney Diseases Estradiol 6.1615618244
MESH:D007674 Kidney Diseases sodium arsenite 6.1620008137
MESH:D007680 Kidney Neoplasms Estradiol 7.5615610895
MESH:D007680 Kidney Neoplasms Fluorouracil 7.5616985049
MESH:D007859 Learning Disorders Ethanol 4.2515451040
MESH:D007938 Leukemia Genistein 3.0417468513 18980019
MESH:D017880 Limb Deformities, Congenital Ethanol 3.8317676605
MESH:D008103 Liver Cirrhosis Ethanol 3.3915289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.1518295389
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.0114716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 5.0118166357
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.0117823541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0115474484
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.6917347304 17207112
MESH:D008113 Liver Neoplasms Fluorouracil 10.8517045692 15113037 16603448 18383874
MESH:D008113 Liver Neoplasms Mitomycin 10.8515113037
MESH:D008113 Liver Neoplasms pirinixic acid 10.8520007298 15890375 16377806
MESH:D008113 Liver Neoplasms sodium arsenite 10.8516712894 15276417
MESH:D008114 Liver Neoplasms, Experimental Polychlorinated Biphenyls 3.621423854
MESH:D008171 Lung Diseases sodium arsenite 3.1919095001
MESH:D008175 Lung Neoplasms Fluorouracil 2.5915246190
MESH:D008175 Lung Neoplasms sodium arsenite 2.5916712894 19931552 17077188 15276417 17306315
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.8415086387
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.1211408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Genistein 10.1214578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 10.1217203775 11408345
MESH:D020149 Manganese Poisoning Estradiol 4.5519453300
MESH:C536029 MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome marker/mechanism 7920659 7920660
MESH:D008545 Melanoma sodium arsenite 2.0319082730 16487513
MESH:D008569 Memory Disorders Ethanol 4.2218411066 15451040
MESH:D009062 Mouth Neoplasms Fluorouracil 3.6516757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.5516239165
MESH:D009203 Myocardial Infarction Genistein 5.7117141266
MESH:D009203 Myocardial Infarction pirinixic acid 5.7119151258
MESH:D015428 Myocardial Reperfusion Injury Estradiol 14.3016810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 14.3017141266
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 14.3016411023
MESH:D009369 Neoplasms Fluorouracil 8.3418600527 18239605 16928823
MESH:D009369 Neoplasms pirinixic acid 8.3417405874
MESH:D009369 Neoplasms sodium arsenite 8.3411559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.7120056578
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7817289903
MESH:D009421 Nervous System Malformations bisphenol A 16.6911399458 16427766
MESH:D009421 Nervous System Malformations Estradiol 16.6911399458 16427766
MESH:D009421 Nervous System Malformations Genistein 16.6916427766
MESH:D009436 Neural Tube Defects sodium arsenite 3.1612854658
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.4516436463
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D010024 Osteoporosis Genistein 3.2719401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.1216169203
MESH:D010049 Ovarian Diseases bisphenol A 5.0411985600
MESH:D010051 Ovarian Neoplasms Estradiol 11.3819401270
MESH:D010051 Ovarian Neoplasms Genistein 11.3819005980
MESH:D010051 Ovarian Neoplasms Progesterone 11.3817393432 16525653
MESH:D010051 Ovarian Neoplasms sodium arsenite 11.3817306315 15276417
MESH:D010190 Pancreatic Neoplasms Ethanol 8.9012384795
MESH:D010190 Pancreatic Neoplasms Fluorouracil 8.9016500647 16929163 15113037 19003803
MESH:D010190 Pancreatic Neoplasms Mitomycin 8.9015113037
MESH:D010195 Pancreatitis Trinitrobenzenesulfonic Acid 4.2317698068
MESH:D010300 Parkinson Disease Polychlorinated Biphenyls 3.4016702228
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.0010548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 10.6520887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 10.6520887781
MESH:D011471 Prostatic Neoplasms bisphenol A 1.9016740699
MESH:D011471 Prostatic Neoplasms Estradiol 1.9016740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 1.9019082440 18626508
MESH:D011471 Prostatic Neoplasms Genistein 1.9016925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Polychlorinated Biphenyls 1.9015721890
MESH:D011471 Prostatic Neoplasms sodium arsenite 1.9016039940
MESH:D011629 Puberty, Precocious bisphenol A 4.8410548101
MESH:D012004 Rectal Neoplasms Fluorouracil 4.0416160472 18722050 15538739 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.4019058328
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.8618045962
MESH:D012640 Seizures Ethanol 3.199754883
MESH:D012878 Skin Neoplasms sodium arsenite 2.7119524636 18572023
MESH:D013119 Spinal Cord Injuries Progesterone 4.3315862959 16503802
MESH:D016135 Spinal Dysraphism sodium arsenite 3.8212854658
MESH:D013274 Stomach Neoplasms Ethanol 2.7018456281
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7017172411 16951190 18396642 18567086 17522103 19084572 16424979 19015929 17498489 15786421
MESH:D013276 Stomach Ulcer Ethanol 3.569211565 11906479 17189318 16755016 9562338 17918041
MESH:D019966 Substance-Related Disorders bisphenol A 4.0316684133 16045194
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.289754883
MESH:D013978 Tibial Fractures Estradiol 4.7519048282
MESH:D014062 Tongue Neoplasms Fluorouracil 4.0216280240
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.5216712894 16452187 17306315 11723127
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 9.5716803524
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 9.5711813266
MESH:D014591 Uterine Diseases bisphenol A 5.0714652134
MESH:D014652 Vascular Diseases sodium arsenite 4.4717056641
Pathway ID Pathway Name
KEGG:04360 Axon guidance
REACT:18266 Axon guidance
KEGG:04514 Cell adhesion molecules (CAMs)
REACT:604 Hemostasis
Pharmacogenomics Knowledge Base Top
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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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