eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine

HOME
QUERY
- DISEASE
- GENOTYPE
NETWORK
- PHENOTYPE
- GENE
- COMMON
- DISEASE PAIR
DOWNLOAD
SUBMIT CASE
HELP&FAQ
- HELP&FAQ
- CONTACT US


	diffuse panbronchiolitis

Disease ID	1277
Disease	diffuse panbronchiolitis
Definition	Diffuse panbronchiolitis (DPB) is an inflammatory lung disease of unknown cause. It is a severe, progressive form of bronchiolitis, an inflammatory condition of the bronchioles (small air passages in the lungs). The term diffuse signifies that lesions appear throughout both lungs, while panbronchiolitis refers to inflammation found in all layers of the respiratory bronchioles (those involved in gas exchange). DPB causes severe inflammation and nodule-like lesions of terminal bronchioles, chronic sinusitis, and intense coughing with large amounts of sputum production. - Wikipedia Reference: https://en.wikipedia.org/wiki/diffuse panbronchiolitis
Synonym	diffuse panbronchiolitis (disorder) dpb panbronchiolitis, diffuse pblt
Orphanet	ORPHANET:171700
OMIM	OMIM:604809
UMLS	C0878555
SNOMED-CT	SNOMEDCT_US_2016_09_01:430476004
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:12) C0024115 \| lung disease \| 1 C0006271 \| bronchiolitis \| 1 C0205969 \| malignant thymoma \| 1 C0013384 \| dyskinesia \| 1 C0278846 \| invasive thymoma \| 1 C0040100 \| thymoma \| 1 C0004096 \| asthma \| 1 C0020542 \| pulmonary hypertension \| 1 C0020538 \| hypertension \| 1 C0009447 \| common variable immunodeficiency \| 1 C0008780 \| primary ciliary dyskinesia \| 1 C0079774 \| peripheral t cell lymphoma \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:2) 135656 \| DPCR1 \| CTD_human;ORPHANET;UNIPROT 727897 \| MUC5B \| ORPHANET
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) 135656 \| DPCR1 \| CTD_human
Text Mined Gene	(Waiting for update.)
Locus	Symbol \| Locus(Total Locus:2) MUC5B \| 11p15.5 DPCR1 \| 6p21.33

Disease ID	1277
Disease	diffuse panbronchiolitis
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:7) HP:0012265 \| Ciliary dyskinesia \| 1 HP:0100522 \| Thymoma \| 1 HP:0002099 \| Asthma \| 1 HP:0011950 \| Bronchiolitis \| 1 HP:0000822 \| Hypertension \| 1 HP:0002092 \| Pulmonary artery hypertension \| 1 HP:0100660 \| Dyskinesis \| 1

Disease ID	1277
Disease	diffuse panbronchiolitis
Manually Symptom	UMLS \| Name(Total Manually Symptoms:14) C2697391 \| rheumatoid arthritis C1963215 \| pneumothorax C1096584 \| chlamydia pneumoniae infection C0876973 \| pulmonary infection C0684249 \| lung cancer C0343192 \| microscopic polyangiitis C0275583 \| pulmonary nocardiosis C0264372 \| bronchiolectasis C0231819 \| air trapping C0149725 \| lower respiratory tract infection C0085129 \| bronchial hyperresponsiveness C0035243 \| respiratory infections C0024305 \| non-hodgkin lymphoma C0008728 \| allergic granulomatous angiitis (churg-strauss)
Text Mined Symptom	(Waiting for update.)

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

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

All Snps(Total Genotypes:0)
(Waiting for update.)

GWASdb Annotation(Total Genotypes:10)
Chr	Pos	SNP_Id	RefGene	EnsemblGene	ENCODE_Factor	ENCODE_TFBS	Chromosome_interaction	GTEx_eQTL	SNP_TFBS_affinity_GWAS3D	SNP_miRNA_target_affinity_PolymiRTS	SNP_splicing_effect_Skippy	SNP_splicing_effect_MutPred_Splice	SNP_ns_protein_effect_dbNSFP	SNP_syn_effect_Silva	SNP_phosphorylation_effect_PhosSNP	PhastCons_score	PhyloP_score	GERP++_RS	Segway_state	Ancestral_allele	ESP_AF	ESP_AFR	ESP_AFR	ESP_EUR	TG_ASN	TG_AMR	TG_AFR	TG_EUR	Type	Consequence	bStatistic	EncH3K27Ac	EncH3K4Me1	EncH3K4Me3	EncNucleo	OMIM	Clinvar
6	30912414	rs9501035	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	NA	NA	chr6,30910001,30920000,chr6,30490001,30500000,5,Hi-C	NA	Homez_1063,77.2533	PFF0200c,1.7076	Rhox11_1765,1.9903	Rhox11_2205,2.1107	Stp2-primary,2.5696	NA	NA	NA	NA	NA	NA	0.221	0.446	1.23	R1	G	NA	NA	NA	0.290	0.490	0.360	0.130	0.220	Intergenic	DOWNSTREAM	917	3.52
6	30913458	rs3132581	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	NA	NA	chr6,30910001,30920000,chr6,30490001,30500000,5,Hi-C	NA	Aft1-primary,40.131	Asg1-DBD-primary,1.6335	Asg1-DBD-primary,1.7572	Gal4-primary,1.3155	Gal4-primary,1.3155	NA	NA	NA	NA	NA	NA	0.006	0.202	0.158	R3	G	NA	NA	NA	0.060	0.020	0.030	0.060	0.100	Intergenic	DOWNSTREAM	917
6	30914751	rs2517451	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	TFP.FOXA1	MCV-2	NA	chr6,30910001,30920000,chr6,30490001,30500000,5,Hi-C	NA	Barx1_2877,1.8061	Mbp1-primary,9.4329	Pbf1-primary,1.5162	Pbf2-primary,1.3062	Pho4-primary,2.6271	NA	NA	NA	NA	NA	NA	0.000	-0.883	-3.46	R2	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript	INTRONIC
6	30914843	rs3130782	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	TFP.FOXA1	MCV-2	NA	chr6,30910001,30920000,chr6,30490001,30500000,5,Hi-C	NA	Ceh-22,1.5435	Evx2_2645,1.4753	Nkx2-9_3082,2.0558	Nkx3-1_2923,3.0542	Tcf2_0913,2.2643	NA	NA	NA	NA	NA	NA	0.000	0.021	-0.148	R1	C	NA	NA	NA	NA	NA	NA	NA	NA	Transcript	INTRONIC
6	30919391	rs3094086	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	NA	NA	chr6,30910001,30920000,chr6,30490001,30500000,5,Hi-C	NA	LM19,1.4355	LM48,2.9728	LM103,17.8257	LM113,1.8761	LM124,1.9775	NA	NA	NA	NA	NA	NA	0.000	-1.076	-5.96	R5	G	0.116	0.071	0.135	0.060	0.020	0.030	0.060	0.110	CodingTranscript	SYNONYMOUS
6	30920124	rs3132580	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	TFP.NFKB1	NA	chr6,30920001,30930000,chr6,30900001,30910000,25,Hi-C	chr6,30920001,30930000,chr6,57690001,57700000,25,Hi-C	chr6,30920001,30930000,chr6,31270001,31280000,4,Hi-C	chr6,30920001,30930000,chr10,57240001,57250000,5,Hi-C	NA	Cep3-primary,1.4026	Met32-primary,1.6489	Rpn4-primary,1.7268	LM161,3.3179	ELF5,1.5551	NA	NA	NA	DPCR1,G,A,E,K,0.003,1,0.560614,0.002335	DPCR1,G,C,E,Q,0.082,1,0.564415,0.000723	DPCR1,G,T,E,X,0.527352,0.829446,0.737452,1	NA	NM_080870,TypeIII+,GAG->AAG,E->K,3.4	NM_080870,TypeIII-,GAG->AAG,E->K,2.211	NM_080870,TypeIII-,GAG->AAG,E->K,3.444	NM_080870,TypeIII-,GAG->AAG,E->K,2.38	NM_080870,TypeIII-,GAG->AAG,E->K,2.313	NM_080870,TypeIII-,GAG->AAG,E->K,3.118	NM_080870,TypeIII-,GAG->AAG,E->K,3.06	NM_080870,TypeIII-,GAG->AAG,E->K,3.264	NM_080870,TypeIII-,GAG->AAG,E->K,4	NM_080870,TypeIII-,GAG->AAG,E->K,5	NM_080870,TypeIII-,GAG->AAG,E->K,3.667
6	30920890	rs2240804	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	MCV-1	NA	chr6,30920001,30930000,chr6,30900001,30910000,25,Hi-C	chr6,30920001,30930000,chr6,57690001,57700000,25,Hi-C	chr6,30920001,30930000,chr6,31270001,31280000,4,Hi-C	chr6,30920001,30930000,chr10,57240001,57250000,5,Hi-C	NA	LM16,2.2174	LM56,1.3968	LM91,1.7111	LM128,1.8022	LM135,6.6279	NA	NA	NA	DPCR1,G,A,R,Q,0.967,1,0.811807,0.000764	DPCR1,G,C,R,P,0.985,1,0.854221,0.289388	DPCR1,G,T,R,L,0.985,1,0.854221,0.289388	NA	NM_080870,TypeIII+,CGG->CAG,R->Q,3.278	NM_080870,TypeIII-,CGG->CAG,R->Q,5.5	NM_080870,TypeIII-,CGG->CAG,R->Q,3	NM_080870,TypeIII-,CGG->CAG,R->Q,5	0.018	-0.364	-1.63	R5	G	0.272	0.098
6	30920957	rs2240803	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	MCV-1	NA	chr6,30920001,30930000,chr6,30900001,30910000,25,Hi-C	chr6,30920001,30930000,chr6,57690001,57700000,25,Hi-C	chr6,30920001,30930000,chr6,31270001,31280000,4,Hi-C	chr6,30920001,30930000,chr10,57240001,57250000,5,Hi-C	NA	Hal9-primary,18.9882	Hal9-primary,18.9882	Mcm1-primary,2.0051	Pbf1-primary,1.3288	Pbf2-primary,1.506	hsa-miR-218-1-3p,-0.220000	hsa-miR-29b-1-5p,-0.093000	hsa-miR-627-5p,-0.149000	hsa-miR-924,-0.127000	NA	NA	NA	NA	NA	0.000	-0.195	-1.42	R1	G	NA	NA	NA	0.240
6	30921364	rs12190030	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	NA	NA	chr6,30920001,30930000,chr6,30900001,30910000,25,Hi-C	chr6,30920001,30930000,chr6,57690001,57700000,25,Hi-C	chr6,30920001,30930000,chr6,31270001,31280000,4,Hi-C	chr6,30920001,30930000,chr10,57240001,57250000,5,Hi-C	NA	Gsc_2327,1.4074	Oaf1-DBD-primary,1.4981	Pbf1-primary,1.3582	Pbf2-primary,1.6503	hsa-miR-4699-3p,0.058000	NA	NA	NA	NA	NA	0.001	-0.099	-0.334	R0	C	NA	NA	NA	NA	NA	NA	NA	NA
6	30921882	rs3757340	NM_080870,DPCR1	ENST00000462446,ENSG00000168631	ENST00000450344,ENSG00000168631	ENST00000419481,ENSG00000233529	ENST00000304311,ENSG00000168631	MCV-1	NA	chr6,30920001,30930000,chr6,30900001,30910000,25,Hi-C	chr6,30920001,30930000,chr6,57690001,57700000,25,Hi-C	chr6,30920001,30930000,chr6,31270001,31280000,4,Hi-C	chr6,30920001,30930000,chr10,57240001,57250000,5,Hi-C	NA	Ceh-22,5.9398	Meox1_2310,1.5731	Rds1-primary,2.2604	Skn7-primary,3.5578	Skn7-primary,61.3526	hsa-miR-4476,-0.078000	hsa-miR-6077,-0.182000	hsa-miR-6876-5p,-0.078000	NA	NA	NA	NA	NA	0.000	-0.401	-2.44	R1	T	NA	NA	NA	NA	NA

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	1277
Disease	diffuse panbronchiolitis
Case	(Waiting for update.)

Web Analytics Made Easy - StatCounter