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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   granulomatosis with polyangiitis
  

Disease ID 42
Disease granulomatosis with polyangiitis
Definition
multisystem disease chiefly affecting males, characterized by necrotizing granulomatous vasculitis involving the upper and lower respiratory tracts, glomerulonephritis, and variable degrees of systemic small vessel vasculitis; considered an aberrant hypersensitivity reaction to an unknown antigen.
Synonym
granulomatosis - wegener's
granulomatosis wegener
granulomatosis wegener's
granulomatosis wegeners
granulomatosis with polyangiitides
granulomatosis with polyangiitis (disorder)
granulomatosis with polyangiitis [disease/finding]
granulomatosis, necrotizing respiratory
granulomatosis, wegener
granulomatosis, wegener's
necrotising respiratory granulomatosis
necrotizing respiratory granulomatosis
polyangiitides, granulomatosis with
polyangiitis, granulomatosis with
wegener granulomatosis
wegener syndrome
wegener's granulomatosis
wegener's granulomatosis (disorder)
wegener's granulomatosis (disorder) [ambiguous]
wegener's syndrome
wegener's syndrome (disorder)
wegeners granulomatosis
wg
with polyangiitides, granulomatosis
with polyangiitis, granulomatosis
Orphanet
OMIM
DOID
UMLS
C3495801
MeSH
SNOMED-CT
Comorbidity
UMLS | Disease | Sentences' Count(Total Sentences:98)
C0042384  |  vasculitis  |  13
C0003873  |  rheumatoid arthritis  |  6
C0003864  |  arthritis  |  5
C0017658  |  glomerulonephritis  |  5
C0022568  |  keratitis  |  4
C0022116  |  ischemia  |  3
C0040583  |  tracheal stenosis  |  3
C0039263  |  takayasu arteritis  |  3
C0022660  |  acute renal failure  |  2
C0011847  |  diabetes  |  2
C0409974  |  lupus erythematosus  |  2
C0021053  |  immune disease  |  2
C0027697  |  nephritis  |  2
C0031154  |  peritonitis  |  2
C0442874  |  neuropathy  |  2
C0031036  |  polyarteritis nodosa  |  2
C0030305  |  pancreatitis  |  2
C0032326  |  pneumothorax  |  2
C0036416  |  scleritis  |  2
C0026946  |  fungal infection  |  2
C0035078  |  renal failure  |  2
C0005684  |  bladder cancer  |  1
C0036202  |  sarcoidosis  |  1
C0036220  |  kaposi's sarcoma  |  1
C0020255  |  hydrocephalus  |  1
C0851578  |  sleep disorders  |  1
C0023418  |  leukemia  |  1
C0029882  |  otitis media  |  1
C0021845  |  intestinal perforation  |  1
C0020542  |  pulmonary hypertension  |  1
C0021845  |  bowel perforation  |  1
C0025064  |  mediastinitis  |  1
C0154733  |  multiple cranial nerve palsies  |  1
C1527336  |  sjogren's syndrome  |  1
C0034065  |  pulmonary embolism  |  1
C0008325  |  cholecystitis  |  1
C0010414  |  cryptococcosis  |  1
C0010051  |  coronary artery aneurysms  |  1
C1261473  |  sarcoma  |  1
C0015230  |  rash  |  1
C0035302  |  retinal artery occlusion  |  1
C0038220  |  status epilepticus  |  1
C0004153  |  atherosclerosis  |  1
C0151744  |  myocardial ischemia  |  1
C0027051  |  myocardial infarct  |  1
C0206178  |  cytomegalovirus retinitis  |  1
C0018202  |  granulomatous vasculitis  |  1
C0031039  |  pericardial effusion  |  1
C0033860  |  psoriasis  |  1
C0019158  |  hepatitis  |  1
C0029132  |  optic neuropathy  |  1
C0004623  |  bacterial infection  |  1
C0035455  |  rhinitis  |  1
C0270612  |  leukoencephalopathy  |  1
C0028432  |  nasal disease  |  1
C0687720  |  pituitary diabetes insipidus  |  1
C0027059  |  myocarditis  |  1
C0023890  |  cirrhosis  |  1
C0007688  |  central retinal artery occlusion  |  1
C0011848  |  diabetes insipidus  |  1
C1145670  |  respiratory failure  |  1
C0017160  |  gastroenteritis  |  1
C0018801  |  heart failure  |  1
C0042384  |  angiitis  |  1
C0029134  |  optic neuritis  |  1
C0027813  |  neuritis  |  1
C0001339  |  acute pancreatitis  |  1
C0003504  |  aortic regurgitation  |  1
C1744558  |  t cell deficiency  |  1
C0334121  |  inflammatory pseudotumour  |  1
C0019196  |  hepatitis c  |  1
C0005716  |  blastomycosis  |  1
C0026986  |  myelodysplastic syndrome  |  1
C0042769  |  virus infection  |  1
C0008526  |  choroiditis  |  1
C0024141  |  systemic lupus erythematosus  |  1
C0035078  |  kidney failure  |  1
C0015469  |  facial nerve paralysis  |  1
C0026718  |  mucormycosis  |  1
C0334268  |  schneiderian papilloma  |  1
C0242343  |  panhypopituitarism  |  1
C0024894  |  mastitis  |  1
C0151436  |  leukocytoclastic vasculitis  |  1
C0030809  |  pemphigus vulgaris  |  1
C0030499  |  parasitosis  |  1
C0339204  |  staphyloma  |  1
C0035333  |  retinitis  |  1
C0002986  |  fabry's disease  |  1
C1704275  |  pyomyositis  |  1
C0155765  |  microangiopathy  |  1
C0015469  |  facial paralysis  |  1
C0014118  |  endocarditis  |  1
C0030807  |  pemphigus  |  1
C0018784  |  sensorineural hearing loss  |  1
C0040053  |  thrombosis  |  1
C0221239  |  rapidly progressive glomerulonephritis  |  1
C0027051  |  myocardial infarction  |  1
C0010051  |  coronary artery aneurysm  |  1
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
3115  |  HLA-DPB1  |  GWASCAT;GHR
5657  |  PRTN3  |  CTD_human;UNIPROT
2215  |  FCGR3B  |  CTD_human
Inferring Gene
Entrez_id | Symbol | Resource(Total Genes:37)
5657  |  PRTN3  |  CIPHER;CTD_human
1636  |  ACE  |  CIPHER
2205  |  FCER1A  |  CIPHER
3115  |  HLA-DPB1  |  CIPHER
3586  |  IL10  |  CIPHER
4193  |  MDM2  |  CIPHER
2206  |  MS4A2  |  CIPHER
64127  |  NOD2  |  CIPHER
5133  |  PDCD1  |  CIPHER
5054  |  SERPINE1  |  CIPHER
7040  |  TGFB1  |  CIPHER
7157  |  TP53  |  CIPHER
5465  |  PPARA  |  CIPHER
5468  |  PPARG  |  CIPHER
6257  |  RXRB  |  CIPHER
727  |  C5  |  CIPHER
6366  |  CCL21  |  CIPHER
6352  |  CCL5  |  CIPHER
1234  |  CCR5  |  CIPHER
958  |  CD40  |  CIPHER
1021  |  CDK6  |  CIPHER
1493  |  CTLA4  |  CIPHER
3119  |  HLA-DQB1  |  CIPHER
3458  |  IFNG  |  CIPHER
59067  |  IL21  |  CIPHER
3560  |  IL2RB  |  CIPHER
3798  |  KIF5A  |  CIPHER
11278  |  KLF12  |  CIPHER
79258  |  MMEL1  |  CIPHER
5588  |  PRKCQ  |  CIPHER
26191  |  PTPN22  |  CIPHER
6775  |  STAT4  |  CIPHER
7124  |  TNF  |  CIPHER
7128  |  TNFAIP3  |  CIPHER
7185  |  TRAF1  |  CIPHER
474168  |  WG  |  CTD_human
2215  |  FCGR3B  |  CTD_human
Text Mined Gene
Entrez_id | Symbol | Score | Resource(Total Genes:50)
538  |  ATP7A  |  2.292  |  DISEASES
51374  |  ATRAID  |  1.809  |  DISEASES
57126  |  CD177  |  3.308  |  DISEASES
959  |  CD40LG  |  3.177  |  DISEASES
1043  |  CD52  |  2.706  |  DISEASES
1041  |  CDSN  |  1.064  |  DISEASES
10321  |  CRISP3  |  1.346  |  DISEASES
51428  |  DDX41  |  2.538  |  DISEASES
1606  |  DGKA  |  1.638  |  DISEASES
1847  |  DUSP5  |  1.204  |  DISEASES
1854  |  DUT  |  1.049  |  DISEASES
51077  |  FCF1  |  1.384  |  DISEASES
2209  |  FCGR1A  |  1.217  |  DISEASES
50943  |  FOXP3  |  1.036  |  DISEASES
2359  |  FPR3  |  1.884  |  DISEASES
3115  |  HLA-DPB1  |  2.74  |  DISEASES
3586  |  IL10  |  1.632  |  DISEASES
9235  |  IL32  |  1.165  |  DISEASES
3684  |  ITGAM  |  1.955  |  DISEASES
11278  |  KLF12  |  1.609  |  DISEASES
3850  |  KRT3  |  1.055  |  DISEASES
3920  |  LAMP2  |  1.02  |  DISEASES
4049  |  LTA  |  1.116  |  DISEASES
79258  |  MMEL1  |  1.418  |  DISEASES
727897  |  MUC5B  |  1.44  |  DISEASES
342538  |  NACA2  |  2.006  |  DISEASES
5359  |  PLSCR1  |  2.263  |  DISEASES
26191  |  PTPN22  |  1.182  |  DISEASES
83695  |  RHNO1  |  1.637  |  DISEASES
22999  |  RIMS1  |  1.457  |  DISEASES
6015  |  RING1  |  1.789  |  DISEASES
6257  |  RXRB  |  3.822  |  DISEASES
6401  |  SELE  |  3.084  |  DISEASES
5265  |  SERPINA1  |  3.595  |  DISEASES
1992  |  SERPINB1  |  3.303  |  DISEASES
114836  |  SLAMF6  |  1.12  |  DISEASES
6605  |  SMARCE1  |  1.28  |  DISEASES
23583  |  SMUG1  |  1.264  |  DISEASES
6775  |  STAT4  |  1.854  |  DISEASES
6818  |  SULT1A3  |  2.029  |  DISEASES
445329  |  SULT1A4  |  2.053  |  DISEASES
7056  |  THBD  |  2.374  |  DISEASES
117145  |  THEM4  |  1.747  |  DISEASES
55858  |  TMEM165  |  1.849  |  DISEASES
56674  |  TMEM9B  |  3.545  |  DISEASES
7124  |  TNF  |  3.643  |  DISEASES
7133  |  TNFRSF1B  |  3.973  |  DISEASES
7293  |  TNFRSF4  |  1.018  |  DISEASES
10673  |  TNFSF13B  |  1.321  |  DISEASES
27229  |  TUBGCP4  |  1.279  |  DISEASES
Locus
Symbol | Locus(Total Locus:4)
PRTN3  |  19p13.3
CTLA4  |  2q33.2
PTPN22  |  1p13.2
HLA-DPB1  |  6p21.32
Disease ID 42
Disease granulomatosis with polyangiitis
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:66)
HP:0000520  |  Proptosis
HP:0002239  |  Gastrointestinal hemorrhage
HP:0012378  |  Fatigue
HP:0000071  |  Ureteral stenosis
HP:0001733  |  Pancreatitis
HP:0000246  |  Sinusitis
HP:0000873  |  Diabetes insipidus
HP:0006510  |  Chronic obstructive pulmonary disease
HP:0002027  |  Abdominal pain
HP:0002960  |  Autoimmunity
HP:0001824  |  Weight loss
HP:0002637  |  Cerebral ischemia
HP:0006535  |  Recurrent intrapulmonary hemorrhage
HP:0001287  |  Meningitis
HP:0000366  |  Abnormality of the nose
HP:0000093  |  Proteinuria
HP:0012649  |  Increased inflammatory response
HP:0000083  |  Renal insufficiency
HP:0002205  |  Recurrent respiratory infections
HP:0002829  |  Arthralgia
HP:0002102  |  Pleuritis
HP:0002091  |  Restrictive lung disease
HP:0003326  |  Myalgia
HP:0003565  |  Elevated erythrocyte sedimentation rate
HP:0005214  |  Intestinal obstruction
HP:0100820  |  Glomerulopathy
HP:0100533  |  Inflammatory abnormality of the eye
HP:0000126  |  Hydronephrosis
HP:0002206  |  Pulmonary fibrosis
HP:0009830  |  Peripheral neuropathy
HP:0002113  |  Pulmonary infiltrates
HP:0000822  |  Hypertension
HP:0002017  |  Nausea and vomiting
HP:0200034  |  Papule
HP:0200042  |  Skin ulcer
HP:0000979  |  Purpura
HP:0000790  |  Hematuria
HP:0000407  |  Sensorineural hearing impairment
HP:0002105  |  Hemoptysis
HP:0001681  |  Angina pectoris
HP:0001250  |  Seizures
HP:0000388  |  Otitis media
HP:0002633  |  Vasculitis
HP:0000763  |  Sensory neuropathy
HP:0002955  |  Granulomatosis
HP:0002093  |  Respiratory insufficiency
HP:0000163  |  Abnormality of the oral cavity
HP:0002301  |  Hemiplegia
HP:0004936  |  Venous thrombosis
HP:0011675  |  Arrhythmia
HP:0000389  |  Chronic otitis media
HP:0001945  |  Fever
HP:0012735  |  Cough
HP:0001701  |  Pericarditis
HP:0000988  |  Skin rash
HP:0000864  |  Abnormality of the hypothalamus-pituitary axis
HP:0000421  |  Epistaxis
HP:0000505  |  Visual impairment
HP:0000488  |  Retinopathy
HP:0100749  |  Chest pain
HP:0000024  |  Prostatitis
HP:0006824  |  Cranial nerve paralysis
HP:0011227  |  Elevated C-reactive protein level
HP:0100758  |  Gangrene
HP:0100539  |  Periorbital edema
HP:0002315  |  Headache
Text Mined Phenotype
HPO | Name | Sentences' Count(Total Phenotypes:82)
HP:0002955  |  Granulomatosis  |  191
HP:0002633  |  Vasculitis  |  14
HP:0001370  |  Rheumatoid arthritis  |  7
HP:0001607  |  Subglottic stenosis  |  7
HP:0001369  |  Arthritis  |  6
HP:0000099  |  Glomerular nephritis  |  5
HP:0000491  |  Corneal inflammation  |  4
HP:0002777  |  Tracheal stenosis  |  3
HP:0001733  |  Pancreatic inflammation  |  2
HP:0002960  |  Autoimmune condition  |  2
HP:0012384  |  Nasal inflammation  |  2
HP:0012378  |  Fatigue  |  2
HP:0001297  |  Cerebral vascular events  |  2
HP:0002108  |  Spontaneous pneumothorax  |  2
HP:0002107  |  Collapsed lung  |  2
HP:0002586  |  Peritonitis  |  2
HP:0006824  |  Cranial nerve palsy  |  2
HP:0000123  |  Nephritis  |  2
HP:0030250  |  Pulmonary granulomatosis  |  2
HP:0012115  |  Liver inflammation  |  2
HP:0100532  |  Scleritis  |  2
HP:0002617  |  Aneurysmal dilatation  |  1
HP:0200029  |  Cutaneous vasculitis  |  1
HP:0001082  |  Cholecystitis  |  1
HP:0001659  |  Aortic insufficiency  |  1
HP:0012089  |  Arteritis  |  1
HP:0012123  |  Posterior uveitis  |  1
HP:0010628  |  Facial palsy, unilateral or bilateral  |  1
HP:0005206  |  Pancreatic pseudocyst  |  1
HP:0002138  |  Subarachnoid hemorrhage  |  1
HP:0002625  |  Blood clot in a deep vein  |  1
HP:0100614  |  Muscle inflammation  |  1
HP:0002098  |  Respiratory distress  |  1
HP:0002863  |  Myelodysplastic syndrome  |  1
HP:0002027  |  Abdominal pain  |  1
HP:0012819  |  Myocarditis  |  1
HP:0001909  |  Leukemia  |  1
HP:0002584  |  Intestinal hemorrhage  |  1
HP:0009725  |  Bladder neoplasm  |  1
HP:0001698  |  Pericardial effusions  |  1
HP:0100726  |  Kaposi's sarcoma  |  1
HP:0000071  |  Narrowing of the ureter  |  1
HP:0003765  |  Psoriasis  |  1
HP:0006859  |  Posterior leukoencephalopathy  |  1
HP:0001735  |  Acute pancreatitis  |  1
HP:0000421  |  Bloody nose  |  1
HP:0001114  |  Fatty deposits on eyelids  |  1
HP:0001945  |  Fever  |  1
HP:0002725  |  Systemic lupus erythematosus  |  1
HP:0000388  |  Otitis media  |  1
HP:0001658  |  Myocardial infarction  |  1
HP:0002133  |  Status epilepticus  |  1
HP:0100653  |  Optic neuritis  |  1
HP:0100584  |  Endocarditis  |  1
HP:0001609  |  Hoarseness  |  1
HP:0012223  |  Ruptured spleen  |  1
HP:0004894  |  Laryngotracheal stenosis  |  1
HP:0200026  |  Ocular pain  |  1
HP:0030854  |  Scleral staphyloma  |  1
HP:0002092  |  Pulmonary artery hypertension  |  1
HP:0100773  |  Cartilage destruction  |  1
HP:0001919  |  Acute renal failure  |  1
HP:0100806  |  Sepsis  |  1
HP:0002621  |  Atherosclerosis  |  1
HP:0100533  |  Ocular inflammation  |  1
HP:0000407  |  sensorineural hearing loss  |  1
HP:0001138  |  Damaged optic nerve  |  1
HP:0001342  |  Intracerebral hemorrhage  |  1
HP:0001635  |  Congestive heart failure  |  1
HP:0002352  |  Leukoencephalopathy  |  1
HP:0000155  |  Oral ulcer  |  1
HP:0012531  |  Pain  |  1
HP:0001394  |  Hepatic cirrhosis  |  1
HP:0100242  |  Sarcoma  |  1
HP:0007209  |  Facial paresis  |  1
HP:0002239  |  Gastrointestinal hemorrhage  |  1
HP:0030171  |  Perirenal hematoma  |  1
HP:0000238  |  Nonsyndromal hydrocephalus  |  1
HP:0000871  |  Panhypopituitarism  |  1
HP:0100280  |  Morbus Crohn  |  1
HP:0000083  |  Renal insufficiency  |  1
HP:0002878  |  Respiratory failure  |  1
Disease ID 42
Disease granulomatosis with polyangiitis
Manually Symptom(Waiting for update.)
Text Mined Symptom
UMLS | Name | Sentences' Count(Total Symptoms:37)
C0042384  |  vasculitis  |  8
C0009814  |  stenosis  |  8
C0017658  |  glomerulonephritis  |  4
C1562901  |  peripheral ulcerative keratitis  |  3
C0022116  |  ischemia  |  2
C0019158  |  hepatitis  |  2
C0019080  |  hemorrhage  |  2
C0040583  |  tracheal stenosis  |  2
C0035302  |  retinal artery occlusion  |  1
C0267373  |  intestinal bleeding  |  1
C0155210  |  xanthelasma  |  1
C0154733  |  multiple cranial nerve palsies  |  1
C0007688  |  central retinal artery occlusion  |  1
C1384666  |  hearing loss  |  1
C0748164  |  multiple pulmonary nodules  |  1
C0549143  |  pulmonary renal syndrome  |  1
C0014118  |  endocarditis  |  1
C0016169  |  fistula  |  1
C0149745  |  oral ulcer  |  1
C0005684  |  bladder cancer  |  1
C0042384  |  angiitis  |  1
C0027051  |  myocardial infarct  |  1
C0021845  |  intestinal perforation  |  1
C0010346  |  crohn's disease  |  1
C0018784  |  sensorineural hearing loss  |  1
C0032326  |  pneumothorax  |  1
C0027547  |  necrotizing scleritis  |  1
C0748159  |  pulmonary involvement  |  1
C1318520  |  necrotizing vasculitis  |  1
C0021308  |  infarction  |  1
C0149781  |  spontaneous pneumothorax  |  1
C0009450  |  infection  |  1
C0002940  |  aneurysms  |  1
C0023890  |  cirrhosis  |  1
C0206178  |  cytomegalovirus retinitis  |  1
C0035333  |  retinitis  |  1
C0151744  |  myocardial ischemia  |  1
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:1)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs9277554237407753115HLA-DPB1umls:C3495801GWASCATAssociation of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis.0.1223670322013HLA-DPB1633087761CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:12)
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
2134540328rs7585252AGrs7585252237407751.74E-05NA1.26[1.13-1.40]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs7585252-GResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
4183751029rs4862110TCrs4862110237407752.00E-06NA1.44[1.24-1.67]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs4862110-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
5115759490rs26595GArs26595237407752.00E-08NA1.35[1.22-1.49]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs26595-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
5152636793rs10515687CTrs10515687237407753.01E-04NA1.35[1.15-1.59]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs10515687-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
633039625rs9277341TCrs9277341237407752.18E-39NA3.03[2.56-3.57]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs9277341-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
633055538rs9277554CTrs9277554237407752.00E-50NA4.17[3.33-5.00]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs9277554-CResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
751537887rs1949829CTrs1949829237407754.00E-07NA1.78[1.42-2.24]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs1949829-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
9138468394rs705669CTrs705669237407752.52E-05NA1.3[1.15-1.47]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs705669-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tA
1160592276rs595018TCrs595018237407752.00E-07NA1.46[1.27-1.69]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs595018-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
176141677rs7503953ACrs7503953237407752.00E-07NA1.5[1.29-1.76]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs7503953-AResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tC
20955412rs6140836TCrs6140836237407757.09E-04NA1.33[1.12-1.58]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs6140836-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tT
2053458805rs6023640TGrs6023640237407752.73E-05NA1.29[1.14-1.45]459 European ancestry cases; 1,503 European ancestry controlsEuropean(1962)ALL(1962)EUR(1962)ALL(1962)Wegener's granulomatosisHPOID:0002955GranulomatosisDOID:12132Wegener's granulomatosisD014890Wegener GranulomatosisNANAVasculitisrs6023640-TResearch Support, N.I.H., ExtramuralResearch Support, Non-U.S. Gov'tG
Mapped by lexical matching(Total Items:21)
HP ID HP Name MP ID MP Name Annotation
HP:0011227Elevated C-reactive protein levelMP:0008721abnormal chemokine leveldeviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes
HP:0100533Inflammatory abnormality of the eyeMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0000388Otitis mediaMP:0009873abnormal aorta tunica media morphologyany structural anomaly of the middle layer of the aorta wall, containing the smooth muscle layer and elastic fibers
HP:0000163Abnormality of the oral cavityMP:0009657failure of chorioallantoic fusionfailure to initiate and/or complete the formation of a highly vascularized extra-embryonic fetal membrane by fusion of the chorion and allantois
HP:0002239Gastrointestinal hemorrhageMP:0012305umbilical cord hemorrhagebleeding into or from the umbilical cord
HP:0000366Abnormality of the noseMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0000864Abnormality of the hypothalamus-pituitary axisMP:0004686decreased length of long bonesreduced end-to-end length of the several elongated bones of the extremities
HP:0100539Periorbital edemaMP:0001785edemaan accumulation of an excessive amount of watery fluid in cells or intercellular tissues
HP:0000389Chronic otitis mediaMP:0001850increased susceptibility to otitis mediagreater likelihood of middle ear inflammation, with an accumulation of a thick, mucous-like fluid; usually associated with a viral or bacterial respiratory infection
HP:0002637Cerebral ischemiaMP:0006190retinal ischemiainadequate blood flow to the retina usually due to functional constriction or obstruction of a blood vessel
HP:0000083Renal insufficiencyMP:0003335exocrine pancreatic insufficiencyinadequate synthesis and/or secretion of digestive enzymes by the exocrine portion of the pancreas, usually due to loss of acinar tissue from idiopathic atrophy or acute or chronic inflammation, causing maldigestion and malabsorption of nutrients
HP:0000407Sensorineural hearing impairmentMP:0006330syndromic hearing impairmenthearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms
HP:0006510Chronic obstructive pulmonary diseaseMP:0010441total anomalous pulmonary venous connectionabnormal development and attachment of all four pulmonary veins that normally attach to the left atrium of the heart, resulting in complete anomalous drainage back into the systemic venous circulation via an anomalous connection to the right atrium, the s
HP:0003565Elevated erythrocyte sedimentation rateMP:0008770decreased survivor ratea smaller percentage of organisms than expected survive to adulthood and have a lifespan similar to controls
HP:0006824Cranial nerve paralysisMP:0006303abnormal retinal nerve fiber layer morphologyany structural anomaly of the layer of the retina formed by expansion of the fibers of the optic nerve
HP:0002091Restrictive lung diseaseMP:0008714increased lung carcinoma incidencegreater than the expected number of a malignant neoplasm of the ling, arising from epithelial cells, usually glandular or squamous, occurring in a specific population in a given time period
HP:0005214Intestinal obstructionMP:0003587ureter obstructiona partial or total blockage in any part of the ureter causing obstruction of urine flow from the kidney to the urinary bladder; may be congenital, acquired, unilateral, bilateral, acute or chronic
HP:0002206Pulmonary fibrosisMP:0009419skeletal muscle fibrosisformation of fibrous tissue within skeletal muscle as a result of repair or a reactive process
HP:0002017Nausea and vomitingMP:0010426abnormal heart and great artery attachmentany anomaly in the in the position or pattern of the connection site of the heart to any of the great arteries, including the pulmonary artery and aorta
HP:0002205Recurrent respiratory infectionsMP:0014182decreased respiratory epithelial sodium ion transmembrane transportdecrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other
HP:0001824Weight lossMP:0005114premature hair lossrelease of fur at an earlier than expected time
Mapped by homologous gene(Total Items:64)
HP ID HP Name MP ID MP Name Annotation
HP:0000071Ureteral stenosisMP:0012253abnormal intersomitic vessel morphologyany structural anomaly of the primary blood vessel sprouts that originate from the dorsal aorta and posterior cardinal vein and align dorsoventrally at the myotomal boundaries between somites
HP:0012735CoughMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0001945FeverMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0011675ArrhythmiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0002315HeadacheMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001250SeizuresMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002205Recurrent respiratory infectionsMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0009830Peripheral neuropathyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000388Otitis mediaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002206Pulmonary fibrosisMP:0014233bile duct epithelium hyperplasia
HP:0002113Pulmonary infiltratesMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0002633VasculitisMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000864Abnormality of the hypothalamus-pituitary axisMP:0014198absent pituitary infundibular stalkabsence of the apical portion of the tubular structure extending from the hypothalamus to the posterior lobe of the pituitary gland
HP:0000873Diabetes insipidusMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0000407Sensorineural hearing impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0002093Respiratory insufficiencyMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0002301HemiplegiaMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0006824Cranial nerve paralysisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002960AutoimmunityMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0100820GlomerulopathyMP:0014169decreased brown adipose tissue massdecreased physical bulk or volume of brown adipose tissue
HP:0000126HydronephrosisMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001287MeningitisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0000093ProteinuriaMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0001701PericarditisMP:0011405tubulointerstitial nephritisdiffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease
HP:0100533Inflammatory abnormality of the eyeMP:0020039increased bone ossificationincrease in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance
HP:0002239Gastrointestinal hemorrhageMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0002637Cerebral ischemiaMP:0014206decreased intestinal epithelial sodium ion transmembrane transport
HP:0002017Nausea and vomitingMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0012378FatigueMP:0013659abnormal erythroid lineage cell morphologyany structural anomaly of an immature or mature cell in the lineage leading to and including erythrocytes
HP:0002105HemoptysisMP:0011098embryonic lethality during organogenesis, complete penetrancedeath of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14)
HP:0011227Elevated C-reactive protein levelMP:0008721abnormal chemokine leveldeviation from the normal levels of any of the class of pro-inflammatory cytokines that attract and activate leukocytes
HP:0006510Chronic obstructive pulmonary diseaseMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0005214Intestinal obstructionMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0000790HematuriaMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002955GranulomatosisMP:0013799abnormal intestinal goblet cell physiologyany functional anomaly of the glandular simple columnar epithelial cell found in the mucosal lining of the small and large intestine, whose primary function is to secrete gel-forming mucins, the major components of mucus; intestinal goblet cells produce a
HP:0001824Weight lossMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0001681Angina pectorisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002829ArthralgiaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000520ProptosisMP:0020321increased vascular endothelial cell apoptosisincrease in the timing or the number of vascular endothelial cells undergoing programmed cell death
HP:0002027Abdominal painMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000083Renal insufficiencyMP:0020316decreased vascular endothelial cell proliferationdecrease in the expansion rate of any vascular endothelial cell population by cell division
HP:0002102PleuritisMP:0011405tubulointerstitial nephritisdiffuse or local inflammation and edema of the interstitial tissue of the kidney, including the renal tubules; usually secondary to drug sensitization, systemic infection, graft rejection, or autoimmune disease
HP:0200042Skin ulcerMP:0020329decreased capillary densityreduction in the number of capillaries in a given cross-sectional area of a tissue
HP:0000246SinusitisMP:0020186altered susceptibility to bacterial infectiona change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria
HP:0000163Abnormality of the oral cavityMP:0013501increased fibroblast apoptosisincrease in the timing or the number of fibroblast cells undergoing programmed cell death
HP:0003326MyalgiaMP:0020309increased creatine kinase activityincreased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+).
HP:0003565Elevated erythrocyte sedimentation rateMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000421EpistaxisMP:0020215impaired blood coagulationimpaired ability of the blood to clot
HP:0200034PapuleMP:0013745abnormal eyelid margin morphologyany structural anomaly of the confluence of the mucosal surface of the conjunctiva, the edge of the orbicularis, and the cutaneous epithelium
HP:0004936Venous thrombosisMP:0014166ectopic cranial bonethe appearance of an extra bone structure at an atypical location in or near the cranium
HP:0000366Abnormality of the noseMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001733PancreatitisMP:0020134abnormal gallbladder sizean anomaly in the size of the gall bladder compared to average, the organ that serves as a storage reservoir for bile
HP:0000488RetinopathyMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0000979PurpuraMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0100749Chest painMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000389Chronic otitis mediaMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000024ProstatitisMP:0010766abnormal NK cell physiologyany functional anomaly of a lymphocyte that can spontaneously kill a variety of target cells without prior antigenic activation via germline encoded activation receptors, and also regulate immune responses via cytokine release and direct contact with othe
HP:0000505Visual impairmentMP:3000003abnormal Ebner's gland morphologyany structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l
HP:0100758GangreneMP:0011517hyperoxaluriaabnormally high levels of oxalic acid or oxalates in the urine; many metal ions form insoluble precipitates with oxalate, a prominent example being calcium oxalate, the primary constituent of the most common kind of kidney stones
HP:0100539Periorbital edemaMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
HP:0000822HypertensionMP:0020216decreased circulating complement protein levelless than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes
HP:0002091Restrictive lung diseaseMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000763Sensory neuropathyMP:0014185cerebellum atrophyacquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal
HP:0000988Skin rashMP:0020154impaired humoral immune responseimpaired response of the immune system that mediates secreted antibodies produced in B cells
Disease ID 42
Disease granulomatosis with polyangiitis
Case(Waiting for update.)