AutismKB 2.0

Annotation Detail for USH1C


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Basic Information Top
Gene Symbol:USH1C ( AIE-75,DFNB18,NY-CO-37,NY-CO-38,PDZ-45,PDZ-73,PDZ-73/NY-CO-38,PDZ73,ush1cpst )
Gene Full Name: Usher syndrome 1C (autosomal recessive, severe)
Band: 11p15.1
Quick LinksEntrez ID:10083; OMIM: 605242; Uniprot ID:USH1C_HUMAN; ENSEMBL ID: ENSG00000006611; HGNC ID: 12597
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2207Deafness
No data
No data
Desease Name
Usher syndrome, type 1C
Deafness, autosomal recessive 18
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D008727 Methotrexate USH1C protein affects the susceptibility to Methotrexateaffects response to substance 16217747
C079198 S 1 (combination) USH1C protein results in increased susceptibility to S 1 (combination)increases response to substance 16734730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 5.1312039119
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1817286800
MESH:D001943 Breast Neoplasms Methotrexate 3.0616978400
MESH:D002289 Carcinoma, Non-Small-Cell Lung S 1 (combination) 4.1918212800 18347146
MESH:D002294 Carcinoma, Squamous Cell S 1 (combination) 3.9515984520
MESH:D019465 Craniofacial Abnormalities Methotrexate 2.679562676 12039119
MESH:D003550 Cystic Fibrosis Methotrexate 4.7419747007
OMIM:602092 DEAFNESS, AUTOSOMAL RECESSIVE 18 marker/mechanism
MESH:D003882 Dermatomyositis Methotrexate 5.8020191521
MESH:D005706 Gallbladder Neoplasms S 1 (combination) 6.4419093184
MESH:D006086 Graft vs Host Disease Methotrexate 5.9116518429
MESH:D006258 Head and Neck Neoplasms S 1 (combination) 5.0618607998 15984520
MESH:D007805 Language Development Disorders Methotrexate 5.719562676
MESH:D008103 Liver Cirrhosis Methotrexate 3.9314986274
MESH:D017563 Lung Diseases, Interstitial Methotrexate 6.0918516814
MESH:D008223 Lymphoma Methotrexate 4.2917352296
MESH:D052016 Mucositis Methotrexate 6.1717488658
MESH:D011565 Psoriasis Methotrexate 3.5617410198
MESH:D051437 Renal Insufficiency Methotrexate 5.4717352296
MESH:D013274 Stomach Neoplasms S 1 (combination) 3.3716557585 18553229 18506536
MESH:D013576 Syndactyly Methotrexate 5.719562676
OMIM:276904 USHER SYNDROME, TYPE IC marker/mechanism
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37226
  • No data
    Releated disease ID Related disease Name
    PA443840Deafness
    No data
    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