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	silicosis

Disease ID	757
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:30) C0041296 \| tuberculosis \| 6 C0032326 \| pneumothorax \| 6 C0024115 \| pulmonary disease \| 3 C0013990 \| emphysema \| 2 C0009782 \| connective tissue disorder \| 2 C0011570 \| depression \| 2 C0021053 \| immune disease \| 2 C0003467 \| anxiety \| 2 C0041327 \| pulmonary tuberculosis \| 2 C0242379 \| lung cancer \| 2 C0024117 \| chronic obstructive pulmonary disease \| 1 C0009782 \| connective tissue disorders \| 1 C0004936 \| mental disorders \| 1 C0018801 \| heart failure \| 1 C0024115 \| pulmonary diseases \| 1 C0009782 \| connective tissue disease \| 1 C0026946 \| mycosis \| 1 C0034050 \| alveolar proteinosis \| 1 C0151332 \| active tuberculosis \| 1 C0034069 \| pulmonary fibrosis \| 1 C0041327 \| lung tuberculosis \| 1 C0032273 \| pneumoconiosis \| 1 C0006267 \| bronchiectasis \| 1 C0034069 \| lung fibrosis \| 1 C0006840 \| candidiasis \| 1 C0029456 \| osteoporosis \| 1 C0041327 \| respiratory tuberculosis \| 1 C0600260 \| obstructive pulmonary disease \| 1 C0034072 \| cor pulmonale \| 1 C0031048 \| constrictive pericarditis \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:5) 3553 \| IL1B \| CTD_human 383 \| ARG1 \| CTD_human 4843 \| NOS2 \| CTD_human 6347 \| CCL2 \| CTD_human 196 \| AHR \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:17) 355 \| FAS \| CIPHER 356 \| FASLG \| CIPHER 3115 \| HLA-DPB1 \| CIPHER 3119 \| HLA-DQB1 \| CIPHER 3123 \| HLA-DRB1 \| CIPHER 3590 \| IL11RA \| CIPHER 3593 \| IL12B \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER;CTD_human 3557 \| IL1RN \| CIPHER 4790 \| NFKB1 \| CIPHER 7124 \| TNF \| CIPHER 7133 \| TNFRSF1B \| CIPHER 4843 \| NOS2 \| CTD_human 196 \| AHR \| CTD_human 6347 \| CCL2 \| CTD_human 383 \| ARG1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:72) 56 \| ACRV1 \| 2.898 \| DISEASES 10097 \| ACTR2 \| 1.865 \| DISEASES 55803 \| ADAP2 \| 2.472 \| DISEASES 9447 \| AIM2 \| 1.892 \| DISEASES 383 \| ARG1 \| 1.438 \| DISEASES 655 \| BMP7 \| 2.192 \| DISEASES 834 \| CASP1 \| 2.172 \| DISEASES 841 \| CASP8 \| 1.564 \| DISEASES 959 \| CD40LG \| 1.654 \| DISEASES 1059 \| CENPB \| 1.236 \| DISEASES 27159 \| CHIA \| 1.267 \| DISEASES 78989 \| COLEC11 \| 2.489 \| DISEASES 1510 \| CTSE \| 1.464 \| DISEASES 1520 \| CTSS \| 1.912 \| DISEASES 1543 \| CYP1A1 \| 1.212 \| DISEASES 1896 \| EDA \| 1.073 \| DISEASES 84985 \| FAM83A \| 2.565 \| DISEASES 355 \| FAS \| 2.186 \| DISEASES 356 \| FASLG \| 3.113 \| DISEASES 27022 \| FOXD3 \| 1.126 \| DISEASES 50943 \| FOXP3 \| 1.092 \| DISEASES 2638 \| GC \| 1.261 \| DISEASES 2739 \| GLO1 \| 1.904 \| DISEASES 3106 \| HLA-B \| 1.032 \| DISEASES 3115 \| HLA-DPB1 \| 1.529 \| DISEASES 3123 \| HLA-DRB1 \| 1.246 \| DISEASES 220988 \| HNRNPA3 \| 2.126 \| DISEASES 3240 \| HP \| 1.492 \| DISEASES 3399 \| ID3 \| 1.071 \| DISEASES 3456 \| IFNB1 \| 1.137 \| DISEASES 100423062 \| IGLL5 \| 1.065 \| DISEASES 3586 \| IL10 \| 1.803 \| DISEASES 3605 \| IL17A \| 1.524 \| DISEASES 112744 \| IL17F \| 1.961 \| DISEASES 3725 \| JUN \| 1.413 \| DISEASES 3767 \| KCNJ11 \| 1.138 \| DISEASES 10724 \| MGEA5 \| 1.853 \| DISEASES 50488 \| MINK1 \| 1.471 \| DISEASES 4318 \| MMP9 \| 1.863 \| DISEASES 727897 \| MUC5B \| 1.049 \| DISEASES 4615 \| MYD88 \| 1.309 \| DISEASES 4776 \| NFATC4 \| 1.618 \| DISEASES 58484 \| NLRC4 \| 2.29 \| DISEASES 114548 \| NLRP3 \| 3.073 \| DISEASES 199713 \| NLRP7 \| 1.684 \| DISEASES 5016 \| OVGP1 \| 1.922 \| DISEASES 11240 \| PADI2 \| 1.22 \| DISEASES 5236 \| PGM1 \| 1.915 \| DISEASES 5251 \| PHEX \| 1.658 \| DISEASES 55124 \| PIWIL2 \| 2.85 \| DISEASES 5515 \| PPP2CA \| 1.236 \| DISEASES 5743 \| PTGS2 \| 1.006 \| DISEASES 7803 \| PTP4A1 \| 1.927 \| DISEASES 23521 \| RPL13A \| 1.756 \| DISEASES 5265 \| SERPINA1 \| 1.997 \| DISEASES 6441 \| SFTPD \| 2.454 \| DISEASES 27036 \| SIGLEC7 \| 2.201 \| DISEASES 4088 \| SMAD3 \| 1.283 \| DISEASES 4093 \| SMAD9 \| 1.78 \| DISEASES 23583 \| SMUG1 \| 1.467 \| DISEASES 8878 \| SQSTM1 \| 1.848 \| DISEASES 10011 \| SRA1 \| 1.035 \| DISEASES 27286 \| SRPX2 \| 1.016 \| DISEASES 10250 \| SRRM1 \| 1.688 \| DISEASES 8563 \| THOC5 \| 2.585 \| DISEASES 81542 \| TMX1 \| 3.116 \| DISEASES 7124 \| TNF \| 3.913 \| DISEASES 8771 \| TNFRSF6B \| 2.563 \| DISEASES 7150 \| TOP1 \| 2.067 \| DISEASES 9322 \| TRIP10 \| 1.752 \| DISEASES 7295 \| TXN \| 1.034 \| DISEASES 80149 \| ZC3H12A \| 3.925 \| DISEASES
Locus	(Waiting for update.)

Disease ID	757
Disease	silicosis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:18) HP:0002107 \| Collapsed lung \| 6 HP:0002960 \| Autoimmune condition \| 2 HP:0000739 \| Anxiety \| 2 HP:0002097 \| Pulmonary emphysema \| 2 HP:0002108 \| Spontaneous pneumothorax \| 2 HP:0000716 \| Depression \| 2 HP:0012735 \| Coughing \| 1 HP:0002202 \| Pleural effusion \| 1 HP:0001635 \| Congestive heart failure \| 1 HP:0006510 \| Chronic obstructive pulmonary disease \| 1 HP:0000939 \| Osteoporosis \| 1 HP:0002206 \| Pulmonary fibrosis \| 1 HP:0001714 \| Ventricular hypertrophy \| 1 HP:0002563 \| Constrictive pericarditis \| 1 HP:0001648 \| Cor pulmonale \| 1 HP:0001667 \| Right ventricular hypertrophy \| 1 HP:0006517 \| Alveolar proteinosis \| 1 HP:0002110 \| Bronchiectasis \| 1

Disease ID	757
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:12) C0041296 \| tuberculosis \| 7 C0032326 \| pneumothorax \| 6 C0242379 \| lung cancer \| 3 C0041327 \| pulmonary tuberculosis \| 2 C0013990 \| emphysema \| 2 C0149781 \| spontaneous pneumothorax \| 2 C0004364 \| autoimmune disease \| 2 C0034072 \| cor pulmonale \| 1 C0032227 \| pleural effusion \| 1 C0340170 \| progressive massive fibrosis \| 1 C0034069 \| lung fibrosis \| 1 C0034069 \| pulmonary fibrosis \| 1

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

Text Mining Genotype(Total 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)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Disease ID	757
Disease	silicosis
Case	(Waiting for update.)

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