AutismKB 2.0

Annotation Detail for PAX7


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Basic Information Top
Gene Symbol:PAX7 ( FLJ37460,HUP1,PAX7B,RMS2 )
Gene Full Name: paired box 7
Band: 1p36.13
Quick LinksEntrez ID:5081; OMIM: 167410; Uniprot ID:PAX7_HUMAN; ENSEMBL ID: ENSG00000009709; HGNC ID: 8621
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Cancers
H00037Alveolar rhabdomyosarcoma
Cancers of soft tissues and bone
Desease IDDesease Name
1982Myopathy
2237Neoplasm metastasis
No data
No data
Desease Name
Rhabdomyosarcoma 2, alveolar
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of PAX7 mRNAdecreases expression 17606305
C051890 irinotecan irinotecan analog results in decreased expression of PAX7 mRNAdecreases expression 18927307
D009151 Mustard Gas Mustard Gas results in increased expression of PAX7 mRNAincreases expression 15674843
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of PAX7 mRNAaffects binding|decreases expression|increases activity 19710929
D014212 Tretinoin SHH protein inhibits the reaction [Tretinoin results in increased expression of PAX7 protein]decreases reaction|increases expression 15996115
D014212 Tretinoin Tretinoin results in increased expression of PAX7 proteinincreases expression 15996115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
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:D000505 Alopecia Tretinoin 3.9015955085
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.8815885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.8816412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3316292516
MESH:D001249 Asthma Mustard Gas 5.2710378619
MESH:D001249 Asthma Tretinoin 5.2716456186
MESH:D001471 Barrett Esophagus Tretinoin 4.8416935849
MESH:D001768 Blister Mustard Gas 5.7019167455
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.2419483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 10.2416206674 16197459
MESH:D001943 Breast Neoplasms Tretinoin 2.2316443354 16166294 16873071
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.7015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.5910378619 17687719
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 5.1316813970
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.7716168501
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 1.911917145
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3716051514 16096774
MESH:D002386 Cataract Tretinoin 3.2817460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 5.1316129372
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6211677210 17681005 15861022 16919318 17110522 16105132 17333356
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D002822 Choriocarcinoma Tretinoin 5.7716461808
MESH:D002972 Cleft Palate Tretinoin 2.799407595
MESH:D003092 Colitis Tretinoin 4.1917035595
MESH:D003110 Colonic Neoplasms irinotecan 2.6417287894 17725105
MESH:D015179 Colorectal Neoplasms irinotecan 2.3616303861 15273666 18259882 16391804 18509181 17454858 17159606
MESH:D019465 Craniofacial Abnormalities Tretinoin 1.8314991402 16925845 9125849 10589399 8800419 9224671 9664655 9211117 9142499 17551590
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D004487 Edema Mustard Gas 8.1411428647 9260866 11402378 11428631
MESH:D004487 Edema pirinixic acid 8.1412083418
MESH:D004489 Edema, Cardiac Tretinoin 5.0818230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D016889 Endometrial Neoplasms Tretinoin 3.3216569247
MESH:D004890 Erythema Mustard Gas 5.709357497
MESH:D005124 Eye Abnormalities Tretinoin 3.849664655 16938888
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.8115345470
MESH:D005234 Fatty Liver pirinixic acid 8.8119236843 20131406
MESH:D005355 Fibrosis Tretinoin 3.9917994277
MESH:D005909 Glioblastoma Tretinoin 3.2217312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.4116096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.7716084493
MESH:D006330 Heart Defects, Congenital Tretinoin 3.059664655 14991402
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4816221962 19772884 19176532 18467677
MESH:D006930 Hyperalgesia Tretinoin 3.5016870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 5.0516778211
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Mustard Gas 2.948975870 11428631 17524151 9357497 11428647 11402378 9260866 11428620 16001271
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007410 Intestinal Diseases Tretinoin 4.2517994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.2717551590 15992940
MESH:D007938 Leukemia Tretinoin 2.9217143497
MESH:D007951 Leukemia, Myeloid Tretinoin 4.0716482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1216294345 17596541 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.3716891316 15748426 17294898 17368321 16788101 12679006 19075265 19642359 17361223 19225113 9834237 17301526 19035177 16935935 17339181 16766008 17649720 19029980 17107899 17217047 16823087 17712046 16331271 16140955 17506722
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.559224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4315474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.4316248980 18397230
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 20007298 16377806
MESH:D008171 Lung Diseases Mustard Gas 3.6718161513 18702808
MESH:D008175 Lung Neoplasms Mustard Gas 2.178781369 3148597
MESH:D008527 Medulloblastoma Tretinoin 2.9017453147
MESH:D008545 Melanoma Tretinoin 1.9816752155
MESH:D008591 Meningomyelocele Tretinoin 4.9116940565
MESH:D052016 Mucositis irinotecan 5.5517159606
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.2617596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009362 Neoplasm Metastasis irinotecan 3.2818259882
MESH:D009369 Neoplasms pirinixic acid 5.4217405874
MESH:D009369 Neoplasms Tretinoin 5.4216946489 16594593
MESH:D009421 Nervous System Malformations Tretinoin 4.229125849
MESH:D009436 Neural Tube Defects Tretinoin 3.279142499
MESH:D009447 Neuroblastoma irinotecan 3.648761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.278761367
MESH:D009503 Neutropenia Mustard Gas 4.3716761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010051 Ovarian Neoplasms Tretinoin 2.4316936753
MESH:D010146 Pain Tretinoin 3.2016870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5615976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D011041 Poisoning Mustard Gas 4.2015727166
MESH:D011507 Proteinuria Tretinoin 4.0116636307
MESH:D011537 Pruritus Ethinyl Estradiol 11.3915861022 16919318
MESH:D011537 Pruritus Mustard Gas 11.3918058305
MESH:D011625 Pterygium Tretinoin 5.3316723453
MESH:D011658 Pulmonary Fibrosis Mustard Gas 3.0310334151 17266442 17620002 17720292 17894541
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.5016116481 16283617
MESH:D018232 Rhabdomyosarcoma, Alveolar marker/mechanism
MESH:D012871 Skin Diseases Mustard Gas 2.7816961503 12880345 15451306
MESH:D012878 Skin Neoplasms Tretinoin 2.7516467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D013274 Stomach Neoplasms irinotecan 2.7115723263
MESH:D013274 Stomach Neoplasms Tretinoin 2.7117261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013964 Thyroid Neoplasms Tretinoin 3.2917045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 4.1416051514
MESH:D014376 Tuberculosis Tretinoin 3.4316040207
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 4.0216129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D014604 Uveal Neoplasms Tretinoin 5.2216752155
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9115869587 14671159
MESH:D014820 Vitiligo Tretinoin 4.5016761959
MESH:D009396 Wilms Tumor Tretinoin 4.2916287080
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