AutismKB 2.0

Annotation Detail for MKS1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MKS1 ( BBS13,FLJ20345,MES,MKS,POC12 )
Gene Full Name: Meckel syndrome, type 1
Band: 17q22
Quick LinksEntrez ID:54903; OMIM: 609883; Uniprot ID:MKS1_HUMAN; ENSEMBL ID: ENSG00000011143; HGNC ID: 7121
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Desease IDDesease Name
Other genetic disorders
H00418Bardet-Biedl syndrome
Genetic disorders
No data
No data
No data
Desease Name
Meckel syndrome, type 1
Bardet-Biedl syndrome 13
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of MKS1 mRNAaffects cotreatment|increases expression 17183730
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of MKS1 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.378875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.4819490988
MESH:D000550 Amblyopia Valproic Acid 6.3017688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9817497229
MESH:D001321 Autistic Disorder Valproic Acid 1.9819460635 17507914 18396377 20603192 17157402 18316065 18940202 18985861 19232924 18558336 18775368 15238991 16609825 17688650 18177632
MESH:D020788 Bardet-Biedl Syndrome marker/mechanism 18327255
MESH:D001714 Bipolar Disorder Valproic Acid 3.2820046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.698888407
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8420734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9117688650 8888407 16575769
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2719641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.661851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.9217275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.983922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.1420417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 4.066426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 5.067750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.953659116
MESH:D005234 Fatty Liver Valproic Acid 3.8514986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.9616575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.818888407 18558336
MESH:D006849 Hydrocephalus Valproic Acid 5.7517688650
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.3916612254
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2116294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.3317228818
OMIM:249000 MECKEL SYNDROME, TYPE 1 marker/mechanism
MESH:D008881 Migraine Disorders Valproic Acid 3.5318803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.588888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.4017596541
MESH:D009436 Neural Tube Defects Valproic Acid 3.4216359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.7120603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.6112752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7819155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.0511738929 15475178 16876388 1511512 17978042 3137016 14763951 11044598
MESH:D016135 Spinal Dysraphism Valproic Acid 4.1719490988
MESH:D013226 Status Epilepticus Valproic Acid 5.6112833885
MESH:D014178 Translocation, Genetic Valproic Acid 6.3017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.413119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.418888407
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA30840
    • No data
    Releated disease ID Related disease Name
    PA152407979Familial aplasia of the vermis
    PA143414733Meckel syndrome (MKS)
    No data
    Drug Bank Top

    Simple Query:


      (e.g. CHD8)

    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved