PedAM

Pediatric Disease Annotations & Medicines


	silicosis

Disease ID	415
Disease	silicosis
Definition	A form of pneumoconiosis resulting from inhalation of dust containing crystalline form of SILICON DIOXIDE, usually in the form of quartz. Amorphous silica is relatively nontoxic.
Synonym	nodular silicosis pneumoconiosis caused by silica pneumoconiosis caused by silica (disorder) pneumoconiosis due to other silica or silicates pneumoconiosis due to silica pneumoconiosis due to silica (disorder) pneumoconiosis due to silica, nos silica pneumocon nec silica pneumoconiosis nos silica pneumoconiosis nos (disorder) silicatosis silicoses silicosis (disorder) silicosis [disease/finding] silicosis, nos silicotic fibrosis of lung
DOID	DOID:10325
UMLS	C0037116
MeSH	D012829
SNOMED-CT	SNOMEDCT_US_2016_09_01:805002
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:32) C0041296 \| tuberculosis \| 7 C0032326 \| pneumothorax \| 6 C0242379 \| lung cancer \| 3 C0024115 \| pulmonary disease \| 3 C0041327 \| pulmonary tuberculosis \| 2 C0013990 \| emphysema \| 2 C0021053 \| immune disease \| 2 C0011570 \| depression \| 2 C0009782 \| connective tissue disorder \| 2 C0003467 \| anxiety \| 2 C0151332 \| active tuberculosis \| 1 C0029456 \| osteoporosis \| 1 C0006267 \| bronchiectasis \| 1 C0006840 \| candidiasis \| 1 C0041327 \| lung tuberculosis \| 1 C0034072 \| cor pulmonale \| 1 C0004936 \| mental disorders \| 1 C0009782 \| connective tissue disorders \| 1 C0026946 \| mycosis \| 1 C0024115 \| pulmonary diseases \| 1 C0034069 \| lung fibrosis \| 1 C0018801 \| heart failure \| 1 C0041327 \| respiratory tuberculosis \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0238074 \| chronic pulmonary heart disease \| 1 C0034069 \| pulmonary fibrosis \| 1 C0031048 \| constrictive pericarditis \| 1 C0034050 \| alveolar proteinosis \| 1 C0034072 \| pulmonary heart disease \| 1 C0009782 \| connective tissue disease \| 1 C0018799 \| heart disease \| 1 C0024117 \| chronic obstructive pulmonary disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) CCL2 \| 6347 \| CTD_human IL1B \| 3553 \| CTD_human NOS2 \| 4843 \| CTD_human ARG1 \| 383 \| CTD_human AHR \| 196 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:13) 355 \| FAS \| infer 356 \| FASLG \| infer 3115 \| HLA-DPB1 \| infer 3119 \| HLA-DQB1 \| infer 3123 \| HLA-DRB1 \| infer 3590 \| IL11RA \| infer 3593 \| IL12B \| infer 3552 \| IL1A \| infer 3553 \| IL1B \| infer 3557 \| IL1RN \| infer 4790 \| NFKB1 \| infer 7124 \| TNF \| infer 7133 \| TNFRSF1B \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:152) 4706 \| NDUFAB1 \| DISEASES 7132 \| TNFRSF1A \| DISEASES 266629 \| SEC14L3 \| DISEASES 1511 \| CTSG \| DISEASES 4792 \| NFKBIA \| DISEASES 1522 \| CTSZ \| DISEASES 1472 \| CST4 \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 1512 \| CTSH \| DISEASES 8797 \| TNFRSF10A \| DISEASES 7040 \| TGFB1 \| DISEASES 973 \| CD79A \| DISEASES 6348 \| CCL3 \| DISEASES 6347 \| CCL2 \| DISEASES 7448 \| VTN \| DISEASES 969 \| CD69 \| DISEASES 4633 \| MYL2 \| DISEASES 55856 \| ACOT13 \| DISEASES 3565 \| IL4 \| DISEASES 6556 \| SLC11A1 \| DISEASES 5967 \| REG1A \| DISEASES 5657 \| PRTN3 \| DISEASES 1509 \| CTSD \| DISEASES 1958 \| EGR1 \| DISEASES 718 \| C3 \| DISEASES 5300 \| PIN1 \| DISEASES 148022 \| TICAM1 \| DISEASES 968 \| CD68 \| DISEASES 7251 \| TSG101 \| DISEASES 9119 \| KRT75 \| DISEASES 55915 \| LANCL2 \| DISEASES 1401 \| CRP \| DISEASES 1830 \| DSG3 \| DISEASES 1828 \| DSG1 \| DISEASES 301 \| ANXA1 \| DISEASES 3569 \| IL6 \| DISEASES 3557 \| IL1RN \| DISEASES 4322 \| MMP13 \| DISEASES 8634 \| RTCA \| DISEASES 4069 \| LYZ \| DISEASES 999 \| CDH1 \| DISEASES 4092 \| SMAD7 \| DISEASES 4087 \| SMAD2 \| DISEASES 27033 \| ZBTB32 \| DISEASES 5052 \| PRDX1 \| DISEASES 3552 \| IL1A \| DISEASES 3553 \| IL1B \| DISEASES 55717 \| WDR11 \| DISEASES 1991 \| ELANE \| DISEASES 2247 \| FGF2 \| DISEASES 5443 \| POMC \| DISEASES 7375 \| USP4 \| DISEASES 7157 \| TP53 \| DISEASES 3001 \| GZMA \| DISEASES 3578 \| IL9 \| DISEASES 7356 \| SCGB1A1 \| DISEASES 2206 \| MS4A2 \| DISEASES 10398 \| MYL9 \| DISEASES 3606 \| IL18 \| DISEASES 1636 \| ACE \| DISEASES 2019 \| EN1 \| DISEASES 11167 \| FSTL1 \| DISEASES 84666 \| RETNLB \| DISEASES 213 \| ALB \| DISEASES 7123 \| CLEC3B \| DISEASES 2171 \| FABP5 \| DISEASES 116844 \| LRG1 \| DISEASES 2990 \| GUSB \| DISEASES 3603 \| IL16 \| DISEASES 260434 \| PYDC1 \| DISEASES 3596 \| IL13 \| DISEASES 7275 \| TUB \| DISEASES 5066 \| PAM \| DISEASES 28998 \| MRPL13 \| DISEASES 160065 \| PATE1 \| DISEASES 836 \| CASP3 \| DISEASES 358 \| AQP1 \| DISEASES 4327 \| MMP19 \| DISEASES 8685 \| MARCO \| DISEASES 9322 \| TRIP10 \| DISEASES 84985 \| FAM83A \| DISEASES 27036 \| SIGLEC7 \| DISEASES 10250 \| SRRM1 \| DISEASES 55803 \| ADAP2 \| DISEASES 4088 \| SMAD3 \| DISEASES 114548 \| NLRP3 \| DISEASES 112744 \| IL17F \| DISEASES 10011 \| SRA1 \| DISEASES 23583 \| SMUG1 \| DISEASES 78989 \| COLEC11 \| DISEASES 27159 \| CHIA \| DISEASES 3605 \| IL17A \| DISEASES 3767 \| KCNJ11 \| DISEASES 50488 \| MINK1 \| DISEASES 355 \| FAS \| DISEASES 5265 \| SERPINA1 \| DISEASES 3240 \| HP \| DISEASES 55124 \| PIWIL2 \| DISEASES 1510 \| CTSE \| DISEASES 841 \| CASP8 \| DISEASES 3123 \| HLA-DRB1 \| DISEASES 58484 \| NLRC4 \| DISEASES 7150 \| TOP1 \| DISEASES 10724 \| MGEA5 \| DISEASES 5743 \| PTGS2 \| DISEASES 356 \| FASLG \| DISEASES 383 \| ARG1 \| DISEASES 9447 \| AIM2 \| DISEASES 1520 \| CTSS \| DISEASES 5016 \| OVGP1 \| DISEASES 8771 \| TNFRSF6B \| DISEASES 959 \| CD40LG \| DISEASES 7803 \| PTP4A1 \| DISEASES 5236 \| PGM1 \| DISEASES 27022 \| FOXD3 \| DISEASES 3725 \| JUN \| DISEASES 6441 \| SFTPD \| DISEASES 4318 \| MMP9 \| DISEASES 27286 \| SRPX2 \| DISEASES 80149 \| ZC3H12A \| DISEASES 2739 \| GLO1 \| DISEASES 7295 \| TXN \| DISEASES 1896 \| EDA \| DISEASES 3399 \| ID3 \| DISEASES 11240 \| PADI2 \| DISEASES 50943 \| FOXP3 \| DISEASES 10097 \| ACTR2 \| DISEASES 5251 \| PHEX \| DISEASES 1543 \| CYP1A1 \| DISEASES 1059 \| CENPB \| DISEASES 4093 \| SMAD9 \| DISEASES 3456 \| IFNB1 \| DISEASES 8878 \| SQSTM1 \| DISEASES 23521 \| RPL13A \| DISEASES 220988 \| HNRNPA3 \| DISEASES 655 \| BMP7 \| DISEASES 8563 \| THOC5 \| DISEASES 4776 \| NFATC4 \| DISEASES 81542 \| TMX1 \| DISEASES 7124 \| TNF \| DISEASES 3106 \| HLA-B \| DISEASES 4615 \| MYD88 \| DISEASES 3115 \| HLA-DPB1 \| DISEASES 834 \| CASP1 \| DISEASES 3586 \| IL10 \| DISEASES 5515 \| PPP2CA \| DISEASES 2638 \| GC \| DISEASES 100423062 \| IGLL5 \| DISEASES 56 \| ACRV1 \| DISEASES 727897 \| MUC5B \| DISEASES 199713 \| NLRP7 \| DISEASES
Locus	(Waiting for update.)

Disease ID	415
Disease	silicosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0002107 \| Collapsed lung \| 6 HP:0002108 \| Spontaneous pneumothorax \| 2 HP:0000739 \| Anxiety \| 2 HP:0002960 \| Autoimmune condition \| 2 HP:0002097 \| Pulmonary emphysema \| 2 HP:0000716 \| Depression \| 2 HP:0006517 \| Alveolar proteinosis \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0012735 \| Coughing \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0002563 \| Constrictive pericarditis \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0001648 \| Cor pulmonale \| 1 HP:0001667 \| Right ventricular hypertrophy \| 1

Disease ID	415
Disease	silicosis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:77) C2712340 \| dyspnea C2632116 \| stenosis C2239136 \| laryngocele C2187990 \| impotence C2073625 \| pleural effusion C1998122 \| chronic respiratory insufficiency C1963220 \| pulmonary hypertension C1963215 \| pneumothorax C1698398 \| eosinophilic bronchitis C1611280 \| allergy C1535535 \| pleurisy C1510420 \| cavities C1377913 \| pleural mesothelioma C1274865 \| pseudoscleroderma C1136085 \| monoclonal gammopathies C0854327 \| bacillus infection C0796095 \| c syndrome C0684249 \| lung cancers C0684249 \| lung cancer C0684249 \| carcinoma of the lung C0549493 \| alveolitis C0542142 \| recurrent laryngeal nerve palsy C0520538 \| tracheobronchopathia osteochondroplastica C0497156 \| adenopathy C0340170 \| progressive massive fibrosis C0302148 \| thrombus C0263313 \| pemphigus foliaceus C0242379 \| pulmonary cancer C0240859 \| rales C0240035 \| interstitial fibrosis C0238074 \| cor pulmonale C0238074 \| chronic cor pulmonale C0235527 \| right-sided heart failure C0221367 \| broncholithiasis C0221236 \| chronic interstitial pneumonia C0154251 \| lipid metabolism disorders C0151313 \| sensory neuropathy C0149781 \| spontaneous pneumothorax C0086132 \| depressive symptoms C0043092 \| wegener's granulomatosis C0041327 \| pulmonary tuberculosis C0041296 \| tuberculosis C0035229 \| respiratory insufficiency C0035204 \| respiratory disorders C0034069 \| pulmonary fibrosis C0034069 \| lung fibrosis C0034067 \| pulmonary emphysema C0034067 \| emphysema C0034050 \| pulmonary alveolar proteinosis C0032285 \| pneumonia C0032226 \| pleural disease C0030920 \| peptic ulcer C0030809 \| pemphigus vulgaris C0030805 \| pemphigoid C0030805 \| bullous pemphigoid C0027051 \| myocardial infarct C0026069 \| middle lobe syndrome C0024205 \| adenitis C0024141 \| disseminated lupus erythematosus C0024115 \| lung diseases C0023795 \| lipoproteinosis C0022658 \| nephropathy C0018801 \| cardiac insufficiency C0017661 \| iga nephropathy C0011633 \| polymyositis/dermatomyositis C0008677 \| chronic bronchitis C0007121 \| bronchogenic carcinoma C0007121 \| bronchial cancer C0006266 \| bronchospasms C0006266 \| bronchospasm C0004364 \| autoimmune disorders C0004364 \| autoimmune diseases C0004364 \| autoimmune disease C0003864 \| arthritis C0002963 \| prinzmetal's angina C0002940 \| aneurysms C0001883 \| airway obstruction
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:13) C0041296 \| tuberculosis \| 7 C0032326 \| pneumothorax \| 6 C0242379 \| lung cancer \| 3 C0041327 \| pulmonary tuberculosis \| 2 C0004364 \| autoimmune disease \| 2 C0013990 \| emphysema \| 2 C0149781 \| spontaneous pneumothorax \| 2 C0034069 \| lung fibrosis \| 1 C0340170 \| progressive massive fibrosis \| 1 C0034072 \| cor pulmonale \| 1 C0032227 \| pleural effusion \| 1 C0034069 \| pulmonary fibrosis \| 1 C0001883 \| airway obstruction \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:3)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs17235409	17223386	7473	WNT3	umls:C0037116	BeFree	The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and NRAMP1 (SLC11A1) in susceptibility to silicosis and pulmonary tuberculosis (PTB), and to analyze the interaction of dust exposure and genetic susceptibility to silicosis, interactions of TNF-alpha-308 and Natural Resistance-associated Macrophage Protein 1 (NRAMP1) INT4, D543N polymorphisms to PTB.	0.000271442	2007	SLC11A1	2	218395009	G	A,C
rs17235409	17223386	6556	SLC11A1	umls:C0037116	BeFree	No association of other polymorphisms (NRAMP1 D543N, TNF-alpha-308) and susceptibility to silicosis or PTB in Chinese miners was found.	0.000271442	2007	SLC11A1	2	218395009	G	A,C
rs17235409	17223386	92105	INTS4	umls:C0037116	BeFree	The aim of this study is to investigate the roles of AMs response-related genes TNF-alpha, iNOS, and NRAMP1 (SLC11A1) in susceptibility to silicosis and pulmonary tuberculosis (PTB), and to analyze the interaction of dust exposure and genetic susceptibility to silicosis, interactions of TNF-alpha-308 and Natural Resistance-associated Macrophage Protein 1 (NRAMP1) INT4, D543N polymorphisms to PTB.	0.000271442	2007	SLC11A1	2	218395009	G	A,C

GWASdb Annotation(Total Genotypes:0)
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GWASdb Snp Trait(Total Genotypes:0)
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Mapped by lexical matching(Total Items:0)
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Mapped by homologous gene(Total Items:0)
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Chemical(Total Drugs:0)
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FDA approved drug and dosage information(Total Drugs:0)
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FDA labeling changes(Total Drugs:0)
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