AutismKB 2.0

Annotation Detail for OCRL


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Basic Information Top
Gene Symbol:OCRL ( INPP5F,LOCR,NPHL2,OCRL1 )
Gene Full Name: oculocerebrorenal syndrome of Lowe
Band: Xq26.1
Quick LinksEntrez ID:4952; OMIM: 300535; Uniprot ID:OCRL_HUMAN; ENSEMBL ID: ENSG00000122126; HGNC ID: 8108
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6364D-myo-inositol (1,3,4)-trisphosphate biosynthesis
PWY-6358superpathway of D-myo-inositol (1,4,5)-trisphosphate metabolism
PWY-6363D-myo-inositol (1,4,5)-trisphosphate degradation
PWY-63621D-myo-inositol hexakisphosphate biosynthesis II (mammalian)
PWY-63683-phosphoinositide degradation
Pathway IDPathway Name
hsa00562Inositol phosphate metabolism
hsa01100Metabolic pathways
hsa04070Phosphatidylinositol signaling system
Pathway IDPathway Name
Membrane Trafficking
Signaling by Rho GTPases
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
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No data
Desease Name
Lowe syndrome
Dent disease 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of OCRL mRNAaffects expression 21346803
D004041 Dietary Fats Dietary Fats results in decreased expression of OCRL mRNAdecreases expression 18042831
C041786 palm oil palm oil results in decreased expression of OCRL mRNAdecreases expression 18042831
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of OCRL mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D001161 Arteriosclerosis Dietary Fats 4.4515238619
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001943 Breast Neoplasms Dietary Fats 2.2420435547
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 1.7916705839
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 3.036135515
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.5818551238
MESH:C538212 Dent disease 1 marker/mechanism
OMIM:300555 DENT DISEASE 2 marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 2.0521346803 18551238
MESH:D050171 Dyslipidemias Dietary Fats 3.7318367378
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D005234 Fatty Liver Dietary Fats 9.1517967931 19004024 18296743 19551842
MESH:D005234 Fatty Liver pirinixic acid 9.1519236843 20131406
MESH:D005355 Fibrosis Dietary Fats 4.0818296743
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5519176532 16221962 18467677 19772884
MESH:D006937 Hypercholesterolemia Dietary Fats 4.0221332399
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006949 Hyperlipidemias Dietary Fats 4.0821332399
MESH:D007249 Inflammation Dietary Fats 2.6020412841
MESH:D007333 Insulin Resistance Dietary Fats 8.0618457598 11836018
MESH:D007333 Insulin Resistance pirinixic acid 8.0616306350
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.3216705839
MESH:D008103 Liver Cirrhosis Dietary Fats 3.0718296743
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.817678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.8116377806 15890375 20007298
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.772876784 6135515 2876786
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.497678174 18551238
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009765 Obesity Dietary Fats 4.6918674790 21332399 16723640 17217161 19632207 11836018 20132043 18457598 20518802
MESH:D009765 Obesity pirinixic acid 4.6920558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.8316049721
MESH:D009800 Oculocerebrorenal Syndrome marker/mechanism
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7918551238
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.4116049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.9510091137
MESH:D015430 Weight Gain Dietary Fats 4.1116723640
Pathway ID Pathway Name
KEGG:00562 Inositol phosphate metabolism
REACT:11123 Membrane Trafficking
KEGG:01100 Metabolic pathways
KEGG:04070 Phosphatidylinositol signaling system
REACT:11044 Signaling by Rho GTPases
Pharmacogenomics Knowledge Base Top
Drug Bank 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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