PedAM

Pediatric Disease Annotations & Medicines


	pulmonary emphysema

Disease ID	845
Disease	pulmonary emphysema
Definition	Enlargement of air spaces distal to the TERMINAL BRONCHIOLES where gas-exchange normally takes place. This is usually due to destruction of the alveolar wall. Pulmonary emphysema can be classified by the location and distribution of the lesions.
Synonym	emphysema (disorder) emphysema of lung emphysema of lung, nos emphysema pulm emphysema pulmonary emphysema, pulmonary emphysema/copd emphysemas pulm emphysemas, pulmonary lung emphysema pulm emphysema pulm emphysemas pulmonary emphysema (disorder) pulmonary emphysema [disease/finding] pulmonary emphysema, nos pulmonary emphysemas
DOID	DOID:9675
UMLS	C0034067
MeSH	D011656
SNOMED-CT	SNOMEDCT_US_2016_09_01:87433001
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:25) C0034069 \| pulmonary fibrosis \| 5 C1800706 \| idiopathic pulmonary fibrosis \| 3 C0032326 \| pneumothorax \| 3 C0024117 \| chronic obstructive pulmonary disease \| 2 C0010495 \| cutis laxa \| 2 C0032285 \| pulmonary inflammation \| 2 C0032285 \| pneumonia \| 2 C1145670 \| respiratory failure \| 1 C0020538 \| hypertension \| 1 C0152021 \| congenital heart disease \| 1 C0024115 \| pulmonary disease \| 1 C0006277 \| bronchitis \| 1 C0006267 \| bronchiectasis \| 1 C0020542 \| pulmonary hypertension \| 1 C0242379 \| lung cancers \| 1 C0221757 \| aat deficiency \| 1 C0041296 \| tuberculosis \| 1 C0032273 \| pneumoconiosis \| 1 C0018799 \| heart disease \| 1 C0085261 \| proteus syndrome \| 1 C0010674 \| cystic fibrosis \| 1 C0878544 \| cardiomyopathy \| 1 C0007193 \| dilated cardiomyopathy \| 1 C0242379 \| lung cancer \| 1 C0600260 \| obstructive pulmonary disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:7) TGFB1 \| 7040 \| CTD_human EPHX1 \| 2052 \| CTD_human HMOX1 \| 3162 \| CTD_human CYP2A6 \| 1548 \| CTD_human SERPINA1 \| 5265 \| CTD_human ITGB6 \| 3694 \| CTD_human MMP12 \| 4321 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 5265 \| SERPINA1 \| infer 12 \| SERPINA3 \| infer 5270 \| SERPINE2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:138) 497258 \| BDNF-AS \| DISEASES 928 \| CD9 \| DISEASES 1634 \| DCN \| DISEASES 50508 \| NOX3 \| DISEASES 9817 \| KEAP1 \| DISEASES 8646 \| CHRD \| DISEASES 990 \| CDC6 \| DISEASES 3162 \| HMOX1 \| DISEASES 64781 \| CERK \| DISEASES 1511 \| CTSG \| DISEASES 51382 \| ATP6V1D \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 23594 \| ORC6 \| DISEASES 10423 \| CDIPT \| DISEASES 26258 \| BLOC1S6 \| DISEASES 4849 \| CNOT3 \| DISEASES 6348 \| CCL3 \| DISEASES 6347 \| CCL2 \| DISEASES 9450 \| LY86 \| DISEASES 4015 \| LOX \| DISEASES 566 \| AZU1 \| DISEASES 5657 \| PRTN3 \| DISEASES 4317 \| MMP8 \| DISEASES 8074 \| FGF23 \| DISEASES 5273 \| SERPINB10 \| DISEASES 8655 \| DYNLL1 \| DISEASES 11034 \| DSTN \| DISEASES 5326 \| PLAGL2 \| DISEASES 2006 \| ELN \| DISEASES 83667 \| SESN2 \| DISEASES 9104 \| RGN \| DISEASES 3569 \| IL6 \| DISEASES 3658 \| IREB2 \| DISEASES 9394 \| HS6ST1 \| DISEASES 4316 \| MMP7 \| DISEASES 4087 \| SMAD2 \| DISEASES 7077 \| TIMP2 \| DISEASES 3553 \| IL1B \| DISEASES 1991 \| ELANE \| DISEASES 975 \| CD81 \| DISEASES 5000 \| ORC4 \| DISEASES 2247 \| FGF2 \| DISEASES 56302 \| TRPV5 \| DISEASES 644 \| BLVRA \| DISEASES 6636 \| SNRPF \| DISEASES 2252 \| FGF7 \| DISEASES 11057 \| ABHD2 \| DISEASES 81631 \| MAP1LC3B \| DISEASES 3930 \| LBR \| DISEASES 2052 \| EPHX1 \| DISEASES 7356 \| SCGB1A1 \| DISEASES 636 \| BICD1 \| DISEASES 2321 \| FLT1 \| DISEASES 3694 \| ITGB6 \| DISEASES 23643 \| LY96 \| DISEASES 1234 \| CCR5 \| DISEASES 1990 \| CELA1 \| DISEASES 213 \| ALB \| DISEASES 6374 \| CXCL5 \| DISEASES 64399 \| HHIP \| DISEASES 4846 \| NOS3 \| DISEASES 115825 \| WDFY2 \| DISEASES 81620 \| CDT1 \| DISEASES 1548 \| CYP2A6 \| DISEASES 1632 \| ECI1 \| DISEASES 51435 \| SCARA3 \| DISEASES 54541 \| DDIT4 \| DISEASES 1444 \| CSHL1 \| DISEASES 30008 \| EFEMP2 \| DISEASES 836 \| CASP3 \| DISEASES 8425 \| LTBP4 \| DISEASES 6440 \| SFTPC \| DISEASES 6569 \| SLC34A1 \| DISEASES 3039 \| HBA1 \| DISEASES 4312 \| MMP1 \| DISEASES 2 \| A2M \| DISEASES 4642 \| MYO1D \| DISEASES 2200 \| FBN1 \| DISEASES 9622 \| KLK4 \| DISEASES 4094 \| MAF \| DISEASES 23545 \| ATP6V0A2 \| DISEASES 5104 \| SERPINA5 \| DISEASES 1665 \| DHX15 \| DISEASES 9369 \| NRXN3 \| DISEASES 6590 \| SLPI \| DISEASES 3605 \| IL17A \| DISEASES 10516 \| FBLN5 \| DISEASES 5265 \| SERPINA1 \| DISEASES 55124 \| PIWIL2 \| DISEASES 50485 \| SMARCAL1 \| DISEASES 1510 \| CTSE \| DISEASES 6525 \| SMTN \| DISEASES 6364 \| CCL20 \| DISEASES 81031 \| SLC2A10 \| DISEASES 11169 \| WDHD1 \| DISEASES 415116 \| PIM3 \| DISEASES 25937 \| WWTR1 \| DISEASES 2530 \| FUT8 \| DISEASES 9374 \| PPT2 \| DISEASES 1382 \| CRABP2 \| DISEASES 4582 \| MUC1 \| DISEASES 1520 \| CTSS \| DISEASES 1791 \| DNTT \| DISEASES 7422 \| VEGFA \| DISEASES 6441 \| SFTPD \| DISEASES 4318 \| MMP9 \| DISEASES 9469 \| CHST3 \| DISEASES 9935 \| MAFB \| DISEASES 7633 \| ZNF79 \| DISEASES 5292 \| PIM1 \| DISEASES 7099 \| TLR4 \| DISEASES 57134 \| MAN1C1 \| DISEASES 23013 \| SPEN \| DISEASES 51032 \| CELA2B \| DISEASES 9365 \| KL \| DISEASES 1992 \| SERPINB1 \| DISEASES 114609 \| TIRAP \| DISEASES 12 \| SERPINA3 \| DISEASES 9255 \| AIMP1 \| DISEASES 2919 \| CXCL1 \| DISEASES 4052 \| LTBP1 \| DISEASES 154810 \| AMOTL1 \| DISEASES 146664 \| MGAT5B \| DISEASES 23705 \| CADM1 \| DISEASES 4125 \| MAN2B1 \| DISEASES 7124 \| TNF \| DISEASES 54900 \| LAX1 \| DISEASES 5270 \| SERPINE2 \| DISEASES 5515 \| PPP2CA \| DISEASES 10189 \| ALYREF \| DISEASES 2920 \| CXCL2 \| DISEASES 90161 \| HS6ST2 \| DISEASES 727897 \| MUC5B \| DISEASES 5228 \| PGF \| DISEASES 1506 \| CTRL \| DISEASES 104564225 \| MHRT \| DISEASES 4555 \| MT-TD \| DISEASES
Locus	(Waiting for update.)

Disease ID	845
Disease	pulmonary emphysema
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:17) HP:0002206 \| Pulmonary fibrosis \| 5 HP:0002107 \| Collapsed lung \| 3 HP:0000973 \| Dermatomegaly \| 2 HP:0002090 \| Pneumonia \| 2 HP:0006510 \| Chronic obstructive pulmonary disease \| 2 HP:0100750 \| Pulmonary atelectasis \| 1 HP:0000822 \| Hypertension \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0001640 \| Increased heart size \| 1 HP:0002786 \| Tracheobronchomalacia \| 1 HP:0001638 \| Cardiomyopathy \| 1 HP:0002108 \| Spontaneous pneumothorax \| 1 HP:0002110 \| Bronchiectasis \| 1 HP:0002878 \| Respiratory failure \| 1 HP:0004469 \| Chronic bronchitis \| 1 HP:0001644 \| Congestive cardiomyopathy \| 1 HP:0012387 \| Bronchitis \| 1

Disease ID	845
Disease	pulmonary emphysema
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:6) C0149781 \| spontaneous pneumothorax \| 1 C0275891 \| tuberculous pneumonia \| 1 C0006277 \| bronchitis \| 1 C0020542 \| pulmonary hypertension \| 1 C0340231 \| tracheobronchomalacia \| 1 C0242379 \| lung cancer \| 1

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

All Snps(Total Genotypes:17)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs10947233	24383474	6636	SNRPF	umls:C0034067	BeFree	Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.	0.000271442	2014	PPT2;PPT2-EGFL8	6	32156647	G	C,T
rs10947233	24383474	9374	PPT2	umls:C0034067	BeFree	Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.	0.000271442	2014	PPT2;PPT2-EGFL8	6	32156647	G	C,T
rs11046966	21330457	6660	SOX5	umls:C0034067	BeFree	The most significant SNP in the BEOCOPD replication was rs11046966 (National Emphysema Treatment Trial-Normative Aging Study P = 6.0 × 10(-4), BEOCOPD P = 1.5 × 10(-5), combined P = 1.7 × 10(-7)), located 3' to the gene SOX5.	0.000271442	2011	NA	12	23524758	T	C
rs12130495	24383474	57134	MAN1C1	umls:C0034067	BeFree	Among African Americans, a locus near a third α-mannosidase-related gene, MAN1C1 (rs12130495; P = 9.9 × 10(-6); MAF, 13.3%) was associated with percent emphysema.	0.000271442	2014	MAN1C1	1	25758907	G	T
rs12130495	24383474	4094	MAF	umls:C0034067	BeFree	Among African Americans, a locus near a third α-mannosidase-related gene, MAN1C1 (rs12130495; P = 9.9 × 10(-6); MAF, 13.3%) was associated with percent emphysema.	0.000271442	2014	MAN1C1	1	25758907	G	T
rs161976	25154699	636	BICD1	umls:C0034067	BeFree	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1).	0.003181358	2014	BICD1	12	32215232	A	G
rs161976	25154699	10144	FAM13A	umls:C0034067	BeFree	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1).	0.000271442	2014	BICD1	12	32215232	A	G
rs1800470	20233420	7040	TGFB1	umls:C0034067	BeFree	Of the genotypes examined, membership in cluster 1 (emphysema-predominant) was associated with TGFB1 SNP rs1800470.	0.123452799	2010	TGFB1	19	41353016	G	C,A
rs1980057	24563194	64399	HHIP	umls:C0034067	BeFree	We found strong genetic associations between the mild upper zone emphysema group and rs1980057 near HHIP, and between the severe emphysema group and rs8034191 in the chromosome 15q region (p<0.001).	0.000271442	2014	NA	4	144564586	C	T
rs2277698	23734748	7077	TIMP2	umls:C0034067	BeFree	The TIMP2 rs2277698 SNP was associated with overall (p = 0.022) and paraseptal (p = 0.010) emphysema, as well as with FEV₁/FVC ratio (p = 0.035) and MEF50 (p = 0.008).	0.000542884	2013	TIMP2	17	78870935	C	T
rs35949016	22011814	2530	FUT8	umls:C0034067	BeFree	Association of fucosyltransferase 8 (FUT8) polymorphism Thr267Lys with pulmonary emphysema.	0.001357209	2011	FUT8	14	65669445	C	A
rs734556	25517131	5270	SERPINE2	umls:C0034067	BeFree	SNP rs734556 was associated with decreased lung tissue expression of SERPINE2, a susceptibility gene for emphysema.	0.003181358	2015	NA	2	223696612	C	T
rs7671167	25154699	10144	FAM13A	umls:C0034067	BeFree	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1).	0.000271442	2014	FAM13A	4	88962828	C	T
rs7671167	25154699	636	BICD1	umls:C0034067	BeFree	The emphysema-predominant GOLD 1 cluster was nominally associated with rs7671167 (FAM13A) and rs161976 (BICD1).	0.003181358	2014	FAM13A	4	88962828	C	T
rs7957346	24383474	6636	SNRPF	umls:C0034067	BeFree	Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.	0.000271442	2014	SNRPF;CCDC38	12	95866696	C	A
rs7957346	24383474	9374	PPT2	umls:C0034067	BeFree	Among 7,914 participants, we identified regions at genome-wide significance for percent emphysema in or near SNRPF (rs7957346; P = 2.2 × 10(-8)) and PPT2 (rs10947233; P = 3.2 × 10(-8)), both of which replicated in an additional 6,023 individuals of European ancestry.	0.000271442	2014	SNRPF;CCDC38	12	95866696	C	A
rs8034191	24563194	64399	HHIP	umls:C0034067	BeFree	We found strong genetic associations between the mild upper zone emphysema group and rs1980057 near HHIP, and between the severe emphysema group and rs8034191 in the chromosome 15q region (p<0.001).	0.000271442	2014	HYKK	15	78513681	T	C

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:19)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
5	30661573	rs9292394	G	T	rs9292394	20709820	2.00E-06	quantitative	1.83	[NA] HU increase	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs9292394-T	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
5	144070311	rs10065677	C	T	rs10065677	20709820	7.60E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
7	52472450	rs1012036	C	T	rs1012036	20709820	5.00E-06	qualitative	1.47	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs1012036-C	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
8	2734202	rs341672	T	C	rs341672	20709820	8.50E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
8	2740502	rs641525	T	G	rs641525	20709820	5.00E-07	qualitative	2.19	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs641525-T	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
10	1630821	rs2999399	C	T	rs2999399	20709820	6.00E-06	qualitative	1.47	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs2999399-T	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
10	34231275	rs7905537	A	C	rs7905537	20709820	8.00E-07	quantitative	1.85	[NA] HU increase	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs7905537-A	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
10	45307205	rs10900114	T	C	rs10900114	20709820	8.40E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
10	45319654	rs7911712	G	A	rs7911712	20709820	6.00E-06	quantitative	2.05	[NA] HU increase	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs7911712-A	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
10	54410202	rs1348350	C	A	rs1348350	20709820	3.10E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
11	80110511	rs2448276	C	T	rs2448276	20709820	5.20E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	32380501	rs10844154	A	C	rs10844154	20709820	6.00E-07	qualitative	1.46	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	rs10844154-C	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	32394104	rs326633	C	T	rs326633	20709820	1.10E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	32418251	rs161981	T	C	rs161981	20709820	6.10E-07	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	32422835	rs261869	A	G	rs261869	20709820	8.10E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	32426389	rs2129590	A	G	rs2129590	20709820	4.80E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
12	126661071	rs7977375	C	T	rs7977375	20709820	4.00E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
14	94795492	rs4905179	A	G	rs4905179	20709820	9.80E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't
14	104807712	rs8016091	G	A	rs8016091	20709820	4.10E-06	NA	NA	NA	Up to 2,380 Caucasian individuals (including 1,455 Caucasian cases)	Caucasian(2380)	ALL(2380)	EUR(2380)	ALL(2380)	Emphysema-related traits	HPOID:0002097	Emphysema	DOID:9675	pulmonary emphysema	D004646	Emphysema	NA	NA	Emphysema	NA	Clinical Trial	Research Support, N.I.H., Extramural	Research Support, Non-U.S. Gov't

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

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

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)