AutismKB 2.0

Annotation Detail for NLRC4


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Basic Information Top
Gene Symbol:NLRC4 ( CARD12,CLAN,CLAN1,CLANA,CLANB,CLANC,CLAND,CLR2.1,IPAF )
Gene Full Name: NLR family, CARD domain containing 4
Band: 2p22.3
Quick LinksEntrez ID:58484; OMIM: 606831; Uniprot ID:NLRC4_HUMAN; ENSEMBL ID: ENSG00000091106; HGNC ID: 16412
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
200101Direct p53 effectors
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D007501 Iron Iron deficiency results in increased expression of NLRC4 mRNAincreases expression 20368581
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D019896 alpha 1-Antitrypsin Deficiency Iron 6.7416640825
MESH:D000544 Alzheimer Disease Iron 3.0916640825 16563566
MESH:D000740 Anemia Iron 4.9416566752 16434484
MESH:D018798 Anemia, Iron-Deficiency Iron 5.2217147795 16569441 17163184 17162259 17375513
MESH:D000756 Anemia, Sideroblastic Iron 5.4416910769
MESH:D001145 Arrhythmias, Cardiac Iron 4.9416604332
MESH:D001260 Ataxia Telangiectasia Iron 6.5415336622
MESH:D050197 Atherosclerosis Iron 3.9916632123 16640825
MESH:D001321 Autistic Disorder Iron 2.7617352947
MESH:D001424 Bacterial Infections Iron 6.2816640825
MESH:D009202 Cardiomyopathies Iron 4.3716640825
MESH:D002311 Cardiomyopathy, Dilated Iron 3.5916604332
MESH:D003110 Colonic Neoplasms Iron 2.9516640825
MESH:D003920 Diabetes Mellitus Iron 4.9816604332 16640825
MESH:D003922 Diabetes Mellitus, Type 1 Iron 3.4816506275
MESH:D003924 Diabetes Mellitus, Type 2 Iron 3.1816506275
MESH:D005234 Fatty Liver Iron 4.7116640825
MESH:D005621 Friedreich Ataxia Iron 6.3416640825 16604332
MESH:D006432 Hemochromatosis Iron 4.8716574947 16604332 16640825 17053826 17236123 17255318
MESH:D006486 Hemosiderosis Iron 6.6316604332
MESH:D006525 Hepatitis, Viral, Human Iron 6.8916640825
MESH:D006527 Hepatolenticular Degeneration Iron 5.8517182432
MESH:D006529 Hepatomegaly Iron 5.2216890145
MESH:D015658 HIV Infections Iron 3.9016597321
MESH:D007006 Hypogonadism Iron 4.7616640825
MESH:D007037 Hypothyroidism Iron 5.9916640825
MESH:D019189 Iron Metabolism Disorders Iron 5.7317163184
MESH:D020961 Lewy Body Disease Iron 6.3416563566
MESH:D008103 Liver Cirrhosis Iron 3.9816640825
MESH:D008108 Liver Diseases, Alcoholic Iron 5.9116737972 17207112
MESH:D008113 Liver Neoplasms Iron 3.2920302851 16640825
MESH:D008175 Lung Neoplasms Iron 2.6716640825
MESH:D008268 Macular Degeneration Iron 4.2316640825
MESH:D020528 Multiple Sclerosis, Chronic Progressive Iron 7.0917086897
MESH:D009181 Mycoses Iron 6.8916640825
MESH:D017202 Myocardial Ischemia Iron 4.9016604332
MESH:D015428 Myocardial Reperfusion Injury Iron 4.6916604332
MESH:D009404 Nephrotic Syndrome Iron 5.0417178036
MESH:D019636 Neurodegenerative Diseases Iron 4.7316604332 17296847
MESH:D010003 Osteoarthritis Iron 4.2516640825
MESH:D010024 Osteoporosis Iron 4.1516640825 16648989
MESH:D010212 Papilloma Iron 5.3912065085
MESH:D020447 Parasomnias Iron 7.4317352947
MESH:D010300 Parkinson Disease Iron 3.4716640825 16563566
MESH:D010900 Pituitary Diseases Iron 7.0916604332
MESH:D011041 Poisoning Iron 4.9816604332
MESH:D017119 Porphyria Cutanea Tarda Iron 5.7716640825
MESH:D011225 Pre-Eclampsia Iron 4.8516640825
MESH:D011528 Protozoan Infections Iron 7.4316640825
MESH:D012148 Restless Legs Syndrome Iron 4.9516930377
MESH:D012878 Skin Neoplasms Iron 3.6712065085
MESH:D013398 Sudden Infant Death Iron 6.5416640825
MESH:D014376 Tuberculosis Iron 4.3916597321
Pathway ID Pathway Name
KEGG:04621 NOD-like receptor signaling pathway
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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


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