AutismKB 2.0

Annotation Detail for CRELD1


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Basic Information Top
Gene Symbol:CRELD1 ( AVSD2,CIRRIN,DKFZp566D213 )
Gene Full Name: cysteine-rich with EGF-like domains 1
Band: 3p25.3
Quick LinksEntrez ID:78987; OMIM: 607170; Uniprot ID:CREL1_HUMAN; ENSEMBL ID: ENSG00000163703; HGNC ID: 14630
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Atrioventricular septal defect, partial, with heterotaxy syndrome
Atrioventricular septal defect, susceptibility to, 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CRELD1 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of CRELD1 mRNAaffects expression 21346803
D004041 Dietary Fats Dietary Fats results in decreased expression of CRELD1 mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of CRELD1 mRNAdecreases expression 18042831
D012643 Selenium Selenium results in increased expression of CRELD1 mRNAincreases expression 19244175
D014303 Trinitrotoluene Trinitrotoluene affects the expression of CRELD1 mRNAaffects expression 21346803
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 10.567525203
MESH:D000014 Abnormalities, Drug-Induced Trinitrotoluene 10.567525203
MESH:D001161 Arteriosclerosis Dietary Fats 4.3115238619
OMIM:606217 ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2;AVSD2 ATRIOVENTRICULAR SEPTAL DEFECT, PARTIAL, WITH HETEROTAXY SYNDROME, marker/mechanism
MESH:D001943 Breast Neoplasms Dietary Fats 2.2520435547
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 1.7816705839
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 8.4514694615
MESH:D002386 Cataract Trinitrotoluene 8.4514694615 15817613
MESH:D003092 Colitis Selenium 4.2017936198
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 10.6515095906
MESH:D000013 Congenital Abnormalities Trinitrotoluene 10.6515095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.6618551238
MESH:D003490 Cyanosis Trinitrotoluene 12.6618551238
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.7218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 9.7221346803
MESH:D056486 Drug-Induced Liver Injury Selenium 9.7215131321
MESH:D056486 Drug-Induced Liver Injury Trinitrotoluene 9.7221346803 18551238
MESH:D050171 Dyslipidemias Dietary Fats 3.6718367378
MESH:D005234 Fatty Liver Dietary Fats 3.5617967931 18296743 19551842 19004024
MESH:D005355 Fibrosis Dietary Fats 3.9418296743
MESH:D006333 Heart Failure Selenium 3.2517162251
MESH:D006529 Hepatomegaly Trinitrotoluene 4.6515817613
MESH:D006937 Hypercholesterolemia Dietary Fats 3.9221332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.9721332399
MESH:D007248 Infertility, Male Trinitrotoluene 3.8712150543
MESH:D007249 Inflammation Dietary Fats 2.5720412841
MESH:D007251 Influenza, Human Selenium 4.7216624496
MESH:D007333 Insulin Resistance Dietary Fats 3.3011836018 18457598
MESH:D007676 Kidney Failure, Chronic Selenium 4.2116518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2416705839
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0318296743
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9515318939
MESH:D008654 Mesothelioma Selenium 2.8915107826
MESH:D009336 Necrosis 2,4-dinitrotoluene 12.2718551238
MESH:D009336 Necrosis Trinitrotoluene 12.2718551238
MESH:D009765 Obesity Dietary Fats 2.3416723640 21332399 17217161 11836018 19632207 20132043 20518802 18457598 18674790
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 17.1216049721 12819281
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 17.1214694615
MESH:D009784 Occupational Diseases Trinitrotoluene 17.1212819281 14694615 17852074
MESH:D010954 Plasmacytoma Selenium 5.4115087411
MESH:D012640 Seizures 2,4-dinitrotoluene 6.8918551238
MESH:D012640 Seizures Trinitrotoluene 6.8918551238
MESH:D013163 Splenomegaly Trinitrotoluene 5.6215817613
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3816049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D015430 Weight Gain Dietary Fats 4.0216723640
No data
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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