AutismKB 2.0

Annotation Detail for USH2A


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Basic Information Top
Gene Symbol:USH2A ( RP39,US2,USH2,dJ1111A8.1 )
Gene Full Name: Usher syndrome 2A (autosomal recessive, mild)
Band: 1q41
Quick LinksEntrez ID:7399; OMIM: 608400; Uniprot ID:USH2A_HUMAN; ENSEMBL ID: ENSG00000042781; HGNC ID: 12601
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CHEMDEPENDENCY
smoking cessation
No data
Desease Name
Usher syndrome, type 2A
Retinitis pigmentosa-39
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000643 Ammonium Chloride Ammonium Chloride affects the expression of USH2A mRNAaffects expression 16483693
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of USH2A mRNA]affects reaction|decreases expression 15016801
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.4418287403
MESH:D000230 Adenocarcinoma Fluorouracil 2.5117638652
MESH:D000740 Anemia Fluorouracil 4.2217963324 16511603 15504547
MESH:D001943 Breast Neoplasms Fluorouracil 2.4219217205 18608205 15136595 18357371 16595493 16557594 16110121
MESH:D002276 Carcinoid Tumor Fluorouracil 5.7416051944
MESH:D002277 Carcinoma Fluorouracil 3.9717121937
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1217971768 17045692 17088986 18930000 16799960 16332177
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.2018695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5916757204 18986760 17066447 16280240
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2917172411 17725105 17287894 18772588 16510598 17018589 17169374 15001691 17016597 16340194
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0115148649 17594712 15289873 14970324 16303861 18802399 18509181 16391804 17454858 16331619 18383874 16282729 17401013 17695437 16524972 17094418 18288408 20501625 17016601 17255274 18448328 18949393
MESH:D007644 Darier Disease Fluorouracil 5.6816733453
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5415173087 16337965 16481741 17638652 16785472
MESH:D005910 Glioma Fluorouracil 3.0216145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.7015162350 18337622 15102660
MESH:D007680 Kidney Neoplasms Fluorouracil 3.7416985049
MESH:D008113 Liver Neoplasms Fluorouracil 2.6218383874 15113037 16603448 17045692
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.6815086387
MESH:D009062 Mouth Neoplasms Fluorouracil 4.0216757204 18986760
MESH:D009369 Neoplasms Fluorouracil 2.8018600527 16928823 18239605
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.7516436463
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7919003803 15113037 16500647 16929163
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3419082440 18626508
MESH:D012004 Rectal Neoplasms Fluorouracil 4.4815538739 18722050 18286688 16160472
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0016424979 16951190 17522103 19015929 18567086 17172411 15786421 19084572 17498489 18396642
MESH:D014062 Tongue Neoplasms Fluorouracil 4.5016280240
MESH:D052245 Usher Syndromes marker/mechanism
OMIM:276901 USHER SYNDROME, TYPE IIA marker/mechanism
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.3816803524
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37228
  • No data
    No data
    Releated drug ID Related drug Name
    PA450626nicotine
    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