AutismKB 2.0

Annotation Detail for ALMS1


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Basic Information Top
Gene Symbol:ALMS1 ( ALSS,DKFZp686A118,DKFZp686D1828,KIAA0328 )
Gene Full Name: Alstrom syndrome 1
Band: 2p13.1
Quick LinksEntrez ID:7840; OMIM: 606844; Uniprot ID:ALMS1_HUMAN; ENSEMBL ID: ENSG00000116127; HGNC ID: 428
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Cell Cycle, Mitotic
No data
No data
Pathway IDPathway Name
500383Loss of proteins required for interphase microtubule organization from the centrosome
500380Centrosome maturation
500381Recruitment of mitotic centrosome proteins and complexes
500384Loss of Nlp from mitotic centrosomes
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00417Alstrom syndrome
Genetic disorders
No data
No data
No data
Desease Name
Alstrom syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of ALMS1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of ALMS1 mRNAaffects expression 21346803
C035208 2-amino-4,6-dinitrotoluene 2-amino-4,6-dinitrotoluene affects the expression of ALMS1 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ALMS1 mRNAdecreases expression 20106945
20064835
D016572 Cyclosporine Cyclosporine results in increased expression of ALMS1 mRNAincreases expression 20106945
D002117 Calcitriol Calcitriol results in increased expression of ALMS1 mRNAincreases expression 16002434
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of ALMS1 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 2-amino-4,6-dinitrotoluene 10.217525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.2111752688 14514962 15322242
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0420127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.806695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D056769 Alstrom Syndrome marker/mechanism
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4319183758
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8517474063 20146248
MESH:D001943 Breast Neoplasms Calcitriol 1.8511237771
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.0616705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0616705839
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9120419170
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 4.9111237771
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.196135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 8697196 15340226 16354765 12621046
MESH:D000013 Congenital Abnormalities 2-amino-4,6-dinitrotoluene 10.4015095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 10.4017141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.1218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.6221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.6221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2-amino-4,6-dinitrotoluene 9.6221346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.2615138306
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0616530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 3.1419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 9.7012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8811294989 10048152
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 16959395 16354765 18606429 15340226
MESH:D006973 Hypertension Cyclosporine 5.2410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2418850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.488314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.7616705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.7616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.7612371664
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.887678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 7.8821137059 20195826
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8816984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.276135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2520464547 20135361 18520028 18569708 17053015 6695378 20869020 18816296 20064080
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2519555203 11884234
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4016381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.7018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.707678174 18551238
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2811141357
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.7812819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.7816049721
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911399792 11118676 11896295 11222880
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.1815572423
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.2217292933
MESH:D011471 Prostatic Neoplasms Calcitriol 3.2216289102 18247401 12479363 15754350 16644109
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,4-dinitrotoluene 6.4718551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.4718551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.8116049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8116049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.8117053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.3510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.3510091137
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
Pharmacogenomics Knowledge Base Top
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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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