AutismKB 2.0

Annotation Detail for C9orf30


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Basic Information Top
Gene Symbol:C9orf30 ( FLJ34973,MGC17337 )
Gene Full Name: chromosome 9 open reading frame 30
Band: 9q31.1
Quick LinksEntrez ID:91283; OMIM: NA; Uniprot ID:CI030_HUMAN; ENSEMBL ID: ENSG00000066697; HGNC ID:
Relate to Another Database: SFARIGene; denovo-db
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of C9ORF30 proteinaffects expression 20106945
D016572 Cyclosporine Cyclosporine results in increased expression of C9ORF30 mRNAincreases expression 20106945
D004958 Estradiol Estradiol results in increased expression of C9ORF30 mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Estradiol 2.1811473722
MESH:D001943 Breast Neoplasms Estradiol 2.1012948864 17018787 18497071 19861407 16675129 17289903 17261762 14630087
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 5.2116111702
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 3.1912619106 21507988 12907637
MESH:D006528 Carcinoma, Hepatocellular Estradiol 3.1916924424
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.5612371664
MESH:D002471 Cell Transformation, Neoplastic Estradiol 7.5618566989
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D003928 Diabetic Nephropathies Estradiol 3.8319279558
MESH:D016889 Endometrial Neoplasms Estradiol 3.2518566989 19148513 11473722
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006558 Herpes Genitalis Estradiol 5.9015709030
MESH:D019584 Hot Flashes Estradiol 4.6217088409
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007333 Insulin Resistance Estradiol 3.2316627594 16393666
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 6.698314463 18776723 10903974
MESH:D007674 Kidney Diseases Estradiol 6.6915618244
MESH:D007680 Kidney Neoplasms Cyclosporine 8.5912371664
MESH:D007680 Kidney Neoplasms Estradiol 8.5915610895
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 1.6914659978 14716833
MESH:D008113 Liver Neoplasms Aflatoxin B1 2.472125692 9163691 15890375 18177683
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 2.998603461
MESH:D008175 Lung Neoplasms Aflatoxin B1 1.8814755239
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 2.8217203775 11807958 16891317 11408345
MESH:D020149 Manganese Poisoning Estradiol 5.3519453300
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D015428 Myocardial Reperfusion Injury Estradiol 3.6216810080
MESH:D009389 Neovascularization, Pathologic Estradiol 4.4717289903
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009421 Nervous System Malformations Estradiol 4.2316427766 11399458
MESH:D010051 Ovarian Neoplasms Estradiol 2.3219401270
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 4.3720887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.0216740699
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D013978 Tibial Fractures Estradiol 5.5519048282
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
No data
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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