DOID:3082
|
interstitial lung disease
|
HGNC:10801
|
Homo sapiens (human)
|
6439
|
SFTPB
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
HGNC:8583
|
Homo sapiens (human)
|
5054
|
SERPINE1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
HGNC:6001
|
Homo sapiens (human)
|
3558
|
IL2
|
|
direct assay evidence used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
HGNC:6015
|
Homo sapiens (human)
|
3566
|
IL4R
|
|
direct assay evidence used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
HGNC:10802
|
Homo sapiens (human)
|
6440
|
SFTPC
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:15756222
- PMID:16423270
- PMID:19443464
|
DOID:3082
|
interstitial lung disease
|
HGNC:4893
|
Homo sapiens (human)
|
3082
|
HGF
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
HGNC:7176
|
Homo sapiens (human)
|
4318
|
MMP9
|
|
direct assay evidence used in manual assertion
|
|
DOID:3082
|
interstitial lung disease
|
RGD:2890
|
Rattus norvegicus (Norway rat)
|
24493
|
Il1a
|
|
mutant phenotype evidence used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:2505
|
Homo sapiens (human)
|
1493
|
CTLA4
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:7176
|
Homo sapiens (human)
|
4318
|
MMP9
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:18619044
- PMID:20160424
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:10798
|
Homo sapiens (human)
|
653509
|
SFTPA1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11589345
- PMID:19797132
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:7646
|
Homo sapiens (human)
|
10
|
NAT2
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:12884528
- PMID:17442289
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:3538
|
Homo sapiens (human)
|
2150
|
F2RL1
|
|
mutant phenotype evidence used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:285
|
Homo sapiens (human)
|
153
|
ADRB1
|
|
mutant phenotype evidence used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:2766
|
Homo sapiens (human)
|
1672
|
DEFB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11829455
- PMID:15569478
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:4187
|
Homo sapiens (human)
|
2638
|
GC
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:10803
|
Homo sapiens (human)
|
6441
|
SFTPD
|
|
direct assay evidence used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:1884
|
Homo sapiens (human)
|
1080
|
CFTR
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:16
|
Homo sapiens (human)
|
12
|
SERPINA3
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:10849024
- PMID:8244391
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:6693
|
Homo sapiens (human)
|
53353
|
LRP1B
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:2596
|
Homo sapiens (human)
|
1544
|
CYP1A2
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:1959
|
Homo sapiens (human)
|
1138
|
CHRNA5
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:29993116
- PMID:33419953
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:10801
|
Homo sapiens (human)
|
6439
|
SFTPB
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:11589345
- PMID:15315329
- PMID:15817713
- PMID:18550614
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:11766
|
Homo sapiens (human)
|
7040
|
TGFB1
|
|
inference by association of genotype from phenotype used in manual assertion
|
|
DOID:3083
|
chronic obstructive pulmonary disease
|
HGNC:2595
|
Homo sapiens (human)
|
1543
|
CYP1A1
|
|
inference by association of genotype from phenotype used in manual assertion
|
- PMID:19507017
- PMID:20080081
|