AutismKB 2.0

Annotation Detail for KLHL7


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Basic Information Top
Gene Symbol:KLHL7 ( KLHL6,SBBI26 )
Gene Full Name: kelch-like 7 (Drosophila)
Band: 7p15.3
Quick LinksEntrez ID:55975; OMIM: 611119; Uniprot ID:KLHL7_HUMAN; ENSEMBL ID: ENSG00000122550; HGNC ID: 15646
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1934Cancer
No data
No data
Desease Name
Retinitis pigmentosa-42
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of KLHL7 mRNAaffects expression 21346803
D006710 Homocysteine Homocysteine results in decreased expression of KLHL7 mRNAdecreases expression 17326132
D005472 Fluorouracil KLHL7 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
C006253 pirinixic acid pirinixic acid results in increased expression of KLHL7 mRNAincreases expression 18301758
D018038 Sodium Selenite Sodium Selenite results in decreased expression of KLHL7 mRNAdecreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4917638652
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000740 Anemia Fluorouracil 4.0616511603 17963324 15504547
MESH:D001321 Autistic Disorder Homocysteine 3.0220468076 16297937
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Fluorouracil 2.4415136595 16110121 19217205 16557594 18608205 18357371 16595493
MESH:D002276 Carcinoid Tumor Fluorouracil 5.2816051944
MESH:D002277 Carcinoma Fluorouracil 3.8517121937
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 3.2116705839
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2118930000 17045692 17971768 16332177 16799960 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1518695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5717066447 16757204 18986760 16280240
MESH:D002779 Cholestasis pirinixic acid 3.0819176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.2415894690
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2817169374 15001691 16340194 17725105 18772588 16510598 17172411 17018589 17287894 17016597
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017094418 16524972 18288408 17454858 17594712 17695437 15289873 15148649 17255274 16303861 17016601 18448328 14970324 18509181 18949393 16282729 16331619 16391804 17401013 18802399 20501625 18383874
MESH:D003324 Coronary Artery Disease Homocysteine 3.8516379339
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D007644 Darier Disease Fluorouracil 5.3316733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 4.1016285004
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 4.2518551238 21346803
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 4.2515131321
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.5216337965 16481741 15173087 16785472 17638652
MESH:D017889 Exfoliation Syndrome Homocysteine 6.2416504073
MESH:D005234 Fatty Liver pirinixic acid 3.1419236843 20131406
MESH:D005901 Glaucoma Homocysteine 5.6916504073
MESH:D005910 Glioma Fluorouracil 2.9816145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.6115102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Homocysteine 4.1719638421
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 16221962 19772884 18467677
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D020138 Hyperhomocysteinemia Homocysteine 5.0317369066 18234410 17292331
MESH:D007333 Insulin Resistance pirinixic acid 8.0416306350
MESH:D007333 Insulin Resistance Sodium Selenite 8.0414714311
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.5116705839
MESH:D007680 Kidney Neoplasms Fluorouracil 8.5116985049
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms Fluorouracil 4.9017045692 18383874 16603448 15113037
MESH:D008113 Liver Neoplasms pirinixic acid 4.9020007298 15890375 16377806
MESH:D008175 Lung Neoplasms Fluorouracil 2.0115246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.3315086387
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.4614737004
MESH:D008591 Meningomyelocele Homocysteine 6.0216602021
MESH:D009062 Mouth Neoplasms Fluorouracil 3.9016757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction Homocysteine 6.4017412321
MESH:D009203 Myocardial Infarction pirinixic acid 6.4019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009369 Neoplasms Fluorouracil 5.4916928823 18600527 18239605
MESH:D009369 Neoplasms pirinixic acid 5.4917405874
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6616436463
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7812819281 16049721
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7616929163 16500647 19003803 15113037
MESH:D010300 Parkinson Disease Homocysteine 3.6816275827
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3118626508 19082440
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3118760546
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3415538739 18722050 16160472 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012174 Retinitis Pigmentosa marker/mechanism
MESH:D012559 Schizophrenia Homocysteine 3.1416641680
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0017522103 18567086 18396642 17498489 16424979 17172411 16951190 19015929 15786421 19084572
MESH:D014062 Tongue Neoplasms Fluorouracil 4.3416280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3916049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.2316803524
No data
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Syndromic Genes

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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


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