AutismKB 2.0

Annotation Detail for NLRP1


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Basic Information Top
Gene Symbol:NLRP1 ( CARD7,CLR17.1,DEFCAP,DEFCAP-L/S,DKFZp586O1822,KIAA0926,NAC,NALP1,PP1044,SLEV1,VAMAS1 )
Gene Full Name: NLR family, pyrin domain containing 1
Band: 17p13
Quick LinksEntrez ID:22861; OMIM: 606636; Uniprot ID:NALP1_HUMAN; ENSEMBL ID: ENSG00000091592; HGNC ID: 14374
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04621NOD-like receptor signaling pathway
No data
Pathway IDPathway Name
200179Cellular roles of Anthrax toxin
Pathway IDPathway Name
P00020FAS signaling pathway
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Vitiligo-associated multiple autoimmune disease susceptibility 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of NLRP1 mRNAincreases expression 20382639
D002117 Calcitriol Calcitriol results in increased expression of NLRP1 mRNAincreases expression 16002434
D014635 Valproic Acid Valproic Acid results in increased expression of NLRP1 mRNAincreases expression 19101580
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 1.9818940202 20603192 18177632 17157402 19232924 17507914 17688650 18316065 18558336 15238991 18985861 19460635 18396377 16609825 18775368
MESH:D001714 Bipolar Disorder Valproic Acid 3.2620046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.668888407
MESH:D001943 Breast Neoplasms Calcitriol 2.5611237771
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.7211237771
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0120889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8320734317
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.261733752 19641884
MESH:D004421 Dystonia Valproic Acid 4.581851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 4.5215138306
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 6254150 7562514
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.957750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.813659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1520426865
MESH:D005234 Fatty Liver Valproic Acid 3.7819224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.7516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.7118558336 8888407
MESH:D006849 Hydrocephalus Valproic Acid 5.6117688650
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 5.1317228818
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:D009436 Neural Tube Defects Valproic Acid 3.3916359493 8888407
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.5720603192
MESH:D011470 Prostatic Hyperplasia Calcitriol 5.5215572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.4812479363 15754350 16289102 18247401 16644109
MESH:D019310 Pseudolymphoma Valproic Acid 5.4112752131 11422049
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.7019155313
MESH:D012559 Schizophrenia Valproic Acid 2.1115737665 19110320
MESH:D012640 Seizures Valproic Acid 3.023137016 15475178 11044598 16876388 14763951 17978042 1511512 11738929
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
OMIM:606579 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 marker/mechanism
Pathway ID Pathway Name
KEGG:04621 NOD-like receptor signaling pathway
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA162397797
  • No data
    Releated disease ID Related disease Name
    PA446047Vitiligo
    Releated drug ID Related drug Name
    PA450635nitric oxide
    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