AutismKB 2.0

Annotation Detail for GUCY2D


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Basic Information Top
Gene Symbol:GUCY2D ( CORD5,CORD6,CYGD,GUC1A4,GUC2D,LCA,LCA1,RCD2,RETGC-1,ROS-GC1,ROSGC,retGC )
Gene Full Name: guanylate cyclase 2D, membrane (retina-specific)
Band: 17p13.1
Quick LinksEntrez ID:3000; OMIM: 600179; Uniprot ID:GUC2D_HUMAN; ENSEMBL ID: ENSG00000132518; HGNC ID: 4689
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00230Purine metabolism
hsa04744Phototransduction
hsa04740Olfactory transduction
No data
Pathway IDPathway Name
200139Visual signal transduction: Rods
200078Visual signal transduction: Cones
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Cone-rod dystrophy 6
Leber congenital amaurosis 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of GUCY2D mRNAaffects expression 16483693
D002713 Chlorine [Ozone co-treated with Chlorine] affects the expression of GUCY2D mRNAaffects cotreatment|affects expression 18636392
D005419 Flavonoids Flavonoids results in decreased expression of GUCY2D mRNAdecreases expression 18035473
C419708 gefitinib gefitinib results in decreased expression of GUCY2D mRNAdecreases expression 16685379
D010126 Ozone [Ozone co-treated with Chlorine] affects the expression of GUCY2D mRNAaffects cotreatment|affects expression 18636392
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of GUCY2D mRNAaffects binding|increases activity|increases expression 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D055371 Acute Lung Injury Chlorine 10.3420601635
MESH:D055371 Acute Lung Injury pirinixic acid 10.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.9416434500
MESH:D000544 Alzheimer Disease Ozone 2.4915513908
MESH:D001172 Arthritis, Rheumatoid Ozone 2.6115570426
MESH:D001249 Asthma Ozone 2.7117854713 16373670
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.4719483382
MESH:D016535 Bronchial Hyperreactivity Ozone 3.9318315731 17626835 18417511 14754758 15516495 16777450 19059883
MESH:D002100 Cachexia Ozone 5.2016183385
MESH:D002289 Carcinoma, Non-Small-Cell Lung gefitinib 4.0319233551 18347146 16230376 20005069 17290066 15496427
MESH:D002779 Cholestasis pirinixic acid 3.0519176532
MESH:D015179 Colorectal Neoplasms gefitinib 3.2417594712
OMIM:600977 CONE-ROD DYSTROPHY 5 marker/mechanism
OMIM:601777 CONE-ROD DYSTROPHY 6 marker/mechanism
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5518249437
MESH:D004417 Dyspnea Chlorine 5.1420016425
MESH:D004487 Edema pirinixic acid 2.8012083418
MESH:D005234 Fatty Liver pirinixic acid 3.0920131406 19236843
MESH:D005739 Gas Poisoning Chlorine 5.5320016425
MESH:D006333 Heart Failure pirinixic acid 2.7120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4116221962 19772884 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.4920558911
MESH:D006976 Hypertension, Pulmonary gefitinib 4.9118424623
MESH:D017380 Hypertrophy, Right Ventricular gefitinib 6.7018424623
MESH:D007249 Inflammation Flavonoids 2.7917296493
MESH:D007333 Insulin Resistance pirinixic acid 2.8216306350
MESH:D007680 Kidney Neoplasms gefitinib 4.8118625569
MESH:D057130 Leber Congenital Amaurosis marker/mechanism
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9120007298 16377806 15890375
MESH:D008171 Lung Diseases Ozone 3.5719066396 8266340
MESH:D055370 Lung Injury Ozone 4.2620417186
MESH:D008175 Lung Neoplasms Ozone 2.107614698 8597069
MESH:D008325 Mammary Neoplasms, Experimental gefitinib 4.3118375820
MESH:D008679 Metaplasia Ozone 5.6310496685
MESH:D009135 Muscular Diseases pirinixic acid 3.9216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2519151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1916411023
MESH:D009369 Neoplasms pirinixic acid 2.0817405874
MESH:D009765 Obesity pirinixic acid 1.8720558911
MESH:D010538 Peritonitis Ozone 4.5516369182
MESH:D011014 Pneumonia Ozone 4.8618007984 18929643 18381685
MESH:D011471 Prostatic Neoplasms gefitinib 4.6016685379 17914592 15651060
MESH:D011658 Pulmonary Fibrosis gefitinib 4.1018424623
MESH:D015427 Reperfusion Injury pirinixic acid 2.5219058328
MESH:D012120 Respiration Disorders Chlorine 5.7318579056
MESH:D012174 Retinitis Pigmentosa marker/mechanism 16272259
MESH:D013964 Thyroid Neoplasms gefitinib 4.7116940797
Pathway ID Pathway Name
KEGG:04740 Olfactory transduction
KEGG:04744 Phototransduction
KEGG:00230 Purine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA187
  • No data
    No data
    Releated drug ID Related drug Name
    PA164744376adenosine monophosphate
    PA448478l-arginine
    PA164747225l-citrulline
    PA450635nitric oxide
    PA450191lecithin
    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