AutismKB 2.0

Annotation Detail for PDCD1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PDCD1 ( CD279,PD1,SLEB2,hPD-1,hPD-l )
Gene Full Name: programmed cell death 1
Band: 2q37.3
Quick LinksEntrez ID:5133; OMIM: 600244; Uniprot ID:PDCD1_HUMAN; ENSEMBL ID: ENSG00000188389; HGNC ID: 8760
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04514Cell adhesion molecules (CAMs)
hsa04660T cell receptor signaling pathway
Pathway IDPathway Name
Signaling in Immune system
No data
No data
Pathway IDPathway Name
500488PD-1 signaling
Related Diseases/Disorders Top
Desease IDDesease Name
H00080Systemic lupus erythematosus
Immune system diseases
Allergies and autoimmune diseases
Desease IDDesease Name
1739Oral cancer
1767Immunologic deficiency syndrome
1800Lupus vulgaris
1807Autoimmune disease
1809HIV infection
1871Hepatitis
2032Kidney disease
2093Viremia
2125Bladder cancer
2146Lupus erythematosus
2161Hodgkin's disease
2192Lung disease
2206Sicca syndrome
2231Arthritis
Desease Name
Lupus Erythematosus, Systemic
rheumatoid arthritis
diabetes, type 1
Lupus Nephritis
multiple sclerosis
systemic lupus erythematosus
IMMUNE
Graves' disease
ankylosing spondylitis
lupus erythematosus
Lupus
No data
Desease Name
Systemic lupus erythematosus, susceptibility to, 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001149 Arsenates [Atrazine co-treated with Arsenates] results in increased expression of PDCD1 mRNAaffects cotreatment|increases expression 18585445
D001280 Atrazine [Atrazine co-treated with Arsenates] results in increased expression of PDCD1 mRNAaffects cotreatment|increases expression 18585445
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PDCD1 mRNAaffects expression 17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PDCD1 mRNAaffects binding|decreases expression|increases activity 19710929
D013629 Tamoxifen Tamoxifen affects the expression of PDCD1 mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.1614745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000382 Agricultural Workers' Diseases Atrazine 4.7611874814
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Tamoxifen 2.1719288272 18997820 19189212 16873071 20544844 17049068 18815881 20065188 15668708 17242785 17893378 21152245 19084267 19142967 19011961 19103187 18351453 19244106 20390343 19200415 18629630 18425577 15565566 18855134 19155303 19289846 19115204 16202921 20135344 21138602 19221464 16818667 20859285 18821012 11161223 19059307 19189210 17261762 19066611 17440819 19487384 20005174 18984771 19410462 16273361
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9919066611
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 1.8516924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9617572228
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6216919318 11677210 17681005 17110522 16105132 15861022 17333356
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D003711 Demyelinating Diseases Tamoxifen 4.8519031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8019279558
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.4512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.4519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2620544844 16202921 19155303 17893378
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.3115345470
MESH:D005234 Fatty Liver pirinixic acid 15.3120131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 15.3114986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4316709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.0714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.7219069698
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 18467677 16221962 19772884
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Atrazine 7.6612948887
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.6617937319
MESH:D007249 Inflammation Tamoxifen 2.5119457130
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007680 Kidney Neoplasms Tamoxifen 3.3518625569
MESH:D008064 Lipidoses Tamoxifen 3.4015342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4015474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.4018564211
MESH:D008113 Liver Neoplasms pirinixic acid 4.8016377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tamoxifen 4.8016684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D008180 Lupus Erythematosus, Systemic marker/mechanism
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8314580682 19196722 11731420 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 5.1619453300
MESH:D008545 Melanoma Tamoxifen 1.9212393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.7215990972
MESH:D008654 Mesothelioma Atrazine 3.641916698
MESH:D009103 Multiple Sclerosis marker/mechanism
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6619393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.6119196722 19189210 19200415
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D010300 Parkinson Disease Atrazine 3.3817218051
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012135 Respiratory Sounds Atrazine 5.0011874814
MESH:D013088 Spermatocele Ethinyl Estradiol 13.6916709447
MESH:D013088 Spermatocele Tamoxifen 13.6916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.468653321 16712894 17572228
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9114671159 15869587
Pathway ID Pathway Name
KEGG:04514 Cell adhesion molecules (CAMs)
REACT:6900 Signaling in Immune system
KEGG:04660 T cell receptor signaling pathway
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved