AutismKB 2.0

Annotation Detail for SMCR7L


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Basic Information Top
Gene Symbol:SMCR7L ( FLJ20232,HSU79252,dJ1104E15.3 )
Gene Full Name: Smith-Magenis syndrome chromosome region, candidate 7-like
Band: 22q13
Quick LinksEntrez ID:54471; OMIM: NA; Uniprot ID:SMC7L_HUMAN; ENSEMBL ID: ENSG00000100335; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C075773 4-phenylbutyric acid 4-phenylbutyric acid results in decreased expression of SMCR7L mRNAdecreases expression 14583596
D001194 Asbestos Asbestos affects the expression of SMCR7L mRNAaffects expression 17297452
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with AHR gene mutant form] results in decreased expression of SMCR7L mRNAaffects cotreatment|decreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5911752688 15322242 14514962
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D050197 Atherosclerosis Asbestos 4.4518795166
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515340226 12621046 8697196 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9116354765 15340226 8697196 18606429 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Asbestos 2.8712111688
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.8711884234 19555203
MESH:D008654 Mesothelioma Asbestos 4.2216919927 18709470 16564556 18310086 16319530
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009369 Neoplasms 4-phenylbutyric acid 3.8919116145
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311399792 11896295 11118676 11222880
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
No data
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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