AutismKB 2.0

Annotation Detail for PLD4


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Basic Information Top
Gene Symbol:PLD4 ( C14orf175 )
Gene Full Name: phospholipase D family, member 4
Band: 14q32.33
Quick LinksEntrez ID:122618; OMIM: NA; Uniprot ID:PLD4_HUMAN; ENSEMBL ID: ENSG00000166428; HGNC ID: 23792
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
LIPASYN-PWYphospholipases
PWY-3561choline biosynthesis III
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D007501 Iron Iron deficiency results in decreased expression of PLD4 mRNAdecreases expression 20368581
D018038 Sodium Selenite Sodium Selenite results in increased expression of PLD4 mRNAincreases expression 18175754
D014807 Vitamin D Vitamin D affects the expression of PLD4 mRNAaffects expression 20368581
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D019896 alpha 1-Antitrypsin Deficiency Iron 6.3916640825
MESH:D000544 Alzheimer Disease Iron 3.0716640825 16563566
MESH:D000740 Anemia Iron 4.8216434484 16566752
MESH:D018798 Anemia, Iron-Deficiency Iron 5.0917162259 17147795 16569441 17375513 17163184
MESH:D000756 Anemia, Sideroblastic Iron 5.3016910769
MESH:D001145 Arrhythmias, Cardiac Iron 4.8216604332
MESH:D001260 Ataxia Telangiectasia Iron 6.1915336622
MESH:D050197 Atherosclerosis Iron 3.9416632123 16640825
MESH:D001321 Autistic Disorder Iron 2.7617352947
MESH:D001424 Bacterial Infections Iron 5.9416640825
MESH:D009202 Cardiomyopathies Iron 4.3116640825
MESH:D002311 Cardiomyopathy, Dilated Iron 3.5716604332
MESH:D019457 Chromosome Breakage Sodium Selenite 5.4115894690
MESH:D003110 Colonic Neoplasms Iron 2.9416640825
MESH:D003920 Diabetes Mellitus Iron 10.8916640825 16604332
MESH:D003920 Diabetes Mellitus Sodium Selenite 10.8916285004
MESH:D003922 Diabetes Mellitus, Type 1 Iron 3.4616506275
MESH:D003924 Diabetes Mellitus, Type 2 Iron 3.1716506275
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 2.3715131321
MESH:D005234 Fatty Liver Iron 4.5716640825
MESH:D005621 Friedreich Ataxia Iron 6.0816640825 16604332
MESH:D006432 Hemochromatosis Iron 4.8017053826 16640825 17236123 16574947 16604332 17255318
MESH:D006486 Hemosiderosis Iron 6.0816604332
MESH:D006525 Hepatitis, Viral, Human Iron 6.3416640825
MESH:D006527 Hepatolenticular Degeneration Iron 5.5917182432
MESH:D006529 Hepatomegaly Iron 4.9716890145
MESH:D015658 HIV Infections Iron 3.8716597321
MESH:D007006 Hypogonadism Iron 4.7016640825
MESH:D007037 Hypothyroidism Iron 5.7316640825
MESH:D007333 Insulin Resistance Sodium Selenite 3.5414714311
MESH:D019189 Iron Metabolism Disorders Iron 5.5717163184
MESH:D015470 Leukemia, Myeloid, Acute Vitamin D 3.8520368581
MESH:D020961 Lewy Body Disease Iron 6.0816563566
MESH:D008103 Liver Cirrhosis Iron 3.9316640825
MESH:D008108 Liver Diseases, Alcoholic Iron 5.6617207112 16737972
MESH:D008113 Liver Neoplasms Iron 3.2616640825 20302851
MESH:D008175 Lung Neoplasms Iron 2.6716640825
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.5914737004
MESH:D008268 Macular Degeneration Iron 4.1916640825
MESH:D020528 Multiple Sclerosis, Chronic Progressive Iron 6.5417086897
MESH:D009181 Mycoses Iron 6.3416640825
MESH:D017202 Myocardial Ischemia Iron 4.8116604332
MESH:D015428 Myocardial Reperfusion Injury Iron 4.6116604332
MESH:D009404 Nephrotic Syndrome Iron 4.9317178036
MESH:D019636 Neurodegenerative Diseases Iron 4.6316604332 17296847
MESH:D010003 Osteoarthritis Iron 4.2016640825
MESH:D010024 Osteoporosis Iron 8.8716640825 16648989
MESH:D010024 Osteoporosis Vitamin D 8.8717882678
MESH:D010212 Papilloma Iron 5.1312065085
MESH:D020447 Parasomnias Iron 6.8917352947
MESH:D010300 Parkinson Disease Iron 3.4516563566 16640825
MESH:D010900 Pituitary Diseases Iron 6.5416604332
MESH:D011041 Poisoning Iron 4.8216604332
MESH:D017119 Porphyria Cutanea Tarda Iron 5.5716640825
MESH:D011225 Pre-Eclampsia Iron 4.7716640825
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3318760546
MESH:D011528 Protozoan Infections Iron 6.8916640825
MESH:D012148 Restless Legs Syndrome Iron 4.8716930377
MESH:D012878 Skin Neoplasms Iron 3.6412065085
MESH:D013398 Sudden Infant Death Iron 6.1916640825
MESH:D014376 Tuberculosis Iron 4.3316597321
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Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00122 - Choline Dietary supplement;Micronutrient;Nootropic Agents;Lipotropic Agents
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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