AutismKB 2.0

Annotation Detail for LRRC40


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Basic Information Top
Gene Symbol:LRRC40 ( FLJ20331,dJ677H15.1 )
Gene Full Name: leucine rich repeat containing 40
Band: 1p31.1
Quick LinksEntrez ID:55631; OMIM: NA; Uniprot ID:LRC40_HUMAN; ENSEMBL ID: ENSG00000066557; HGNC ID: 26004
Relate to Another Database: SFARIGene; denovo-db
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Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of LRRC40 mRNAdecreases expression 20106945
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of LRRC40 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of LRRC40 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.238875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4119490988
MESH:D000550 Amblyopia Valproic Acid 6.1017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9417497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9818396377 17157402 16609825 18985861 18940202 18316065 18775368 17507914 19460635 15238991 19232924 20603192 18177632 18558336 17688650
MESH:D001714 Bipolar Disorder Valproic Acid 3.2620046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 8888407 16575769
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2619641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.8117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.783922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1220417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 4.006426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D005234 Fatty Liver Cyclosporine 9.4119224547
MESH:D005234 Fatty Liver Valproic Acid 9.4114986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.7118558336 8888407
MESH:D005355 Fibrosis Cyclosporine 3.7912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.2816612254
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5618776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D008881 Migraine Disorders Valproic Acid 3.5018765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.518888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3717596541
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.3916359493 8888407
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.4111422049 12752131
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1119110320 15737665
MESH:D012640 Seizures Valproic Acid 3.0211044598 16876388 1511512 14763951 3137016 11738929 17978042 15475178
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1319490988
MESH:D013226 Status Epilepticus Valproic Acid 5.4112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.1017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.263119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.308888407
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
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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