MCID: BRD025
MIFTS: 53

Birdshot Chorioretinopathy

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 53 12 72 49 55 41 69
Birdshot Chorioretinitis 12 49 55 69
Birdshot Retinochoroidopathy 12 49 55
Birdshot Retinochoroiditis 12 49 55
Vitiliginous Choroiditis 12 49 55
Bscr 53 12 49
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 49

Characteristics:

Orphanet epidemiological data:

55
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 55  
Rare eye diseases


External Ids:

OMIM 53 605808
Disease Ontology 12 DOID:0111079
ICD10 32 H30.1
MeSH 41 C537630
Orphanet 55 ORPHA179
MESH via Orphanet 42 C537630
UMLS via Orphanet 70 C1853959
ICD10 via Orphanet 33 H30.1
MedGen 39 C1853959

Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 49 Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina.  These spots are scattered in a "birdshot" pattern.  The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems.  Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities.  The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease.  Treatment may include medications that aim to regulate the body's immune response. Last updated: 3/21/2013

MalaCards based summary : Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to retinitis and choroiditis, and has symptoms including photophobia, blurred vision and cataract. An important gene associated with Birdshot Chorioretinopathy is HLA-A (Major Histocompatibility Complex, Class I, A), and among its related pathways/superpathways are Innate Immune System and Class I MHC mediated antigen processing and presentation. The drugs Prednisone and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia.

Wikipedia : 72 Birdshot chorioretinopathy now commonly named \"Birdshot Uveitis\" or \"HLA-A29 Uveitis\" is a rare form... more...

Description from OMIM: 605808

Related Diseases for Birdshot Chorioretinopathy

Graphical network of the top 20 diseases related to Birdshot Chorioretinopathy:



Diseases related to Birdshot Chorioretinopathy

Symptoms & Phenotypes for Birdshot Chorioretinopathy

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
chorioretinopathy
white painless eye
particulate debris in vitreous
depigmented lesions of the retinal pigment epithelium


Clinical features from OMIM:

605808

Human phenotypes related to Birdshot Chorioretinopathy:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 55 31 frequent (33%) Frequent (79-30%) HP:0000613
2 blurred vision 55 31 frequent (33%) Frequent (79-30%) HP:0000622
3 cataract 55 31 frequent (33%) Frequent (79-30%) HP:0000518
4 retinal detachment 55 31 occasional (7.5%) Occasional (29-5%) HP:0000541
5 visual loss 55 31 hallmark (90%) Very frequent (99-80%) HP:0000572
6 retinal thinning 55 31 frequent (33%) Frequent (79-30%) HP:0030329
7 inflammatory abnormality of the eye 55 31 frequent (33%) Frequent (79-30%) HP:0100533
8 optic disc pallor 55 31 frequent (33%) Frequent (79-30%) HP:0000543
9 vitritis 55 31 hallmark (90%) Very frequent (99-80%) HP:0011531
10 increased intraocular pressure 55 31 hallmark (90%) Very frequent (99-80%) HP:0007906
11 vitreous floaters 55 31 frequent (33%) Frequent (79-30%) HP:0100832
12 attenuation of retinal blood vessels 55 31 frequent (33%) Frequent (79-30%) HP:0007843
13 macular hole 55 31 frequent (33%) Frequent (79-30%) HP:0011508
14 blind-spot enlargment 55 31 frequent (33%) Frequent (79-30%) HP:0030644
15 epiretinal membrane 55 31 frequent (33%) Frequent (79-30%) HP:0100014
16 arcuate scotoma 55 31 occasional (7.5%) Occasional (29-5%) HP:0030530
17 cystoid macular edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0011505
18 photoreceptor layer loss on macular oct 55 31 hallmark (90%) Very frequent (99-80%) HP:0030609
19 visual impairment 31 HP:0000505
20 abnormality of the retinal vasculature 55 Very frequent (99-80%)
21 abnormality of the choroid 55 Very frequent (99-80%)
22 chorioretinal abnormality 55 Very frequent (99-80%)
23 macular scarring 55 Frequent (79-30%)
24 choroidal neovascularization of the macula 55 Occasional (29-5%)
25 posterior uveitis 31 HP:0012123
26 choroidal neovascularization 31 occasional (7.5%) HP:0011506
27 macular scar 31 frequent (33%) HP:0200056
28 retinal pigment epithelial atrophy 31 HP:0007722
29 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532

GenomeRNAi Phenotypes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

25 (show top 50) (show all 78)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-103 10.75 HLA-A HLA-C
2 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.75 KIR2DS2
3 Increased shRNA abundance (Z-score > 2) GR00366-A-106 10.75 KIR2DL1
4 Increased shRNA abundance (Z-score > 2) GR00366-A-110 10.75 HLA-A HLA-C
5 Increased shRNA abundance (Z-score > 2) GR00366-A-115 10.75 KIR2DS1
6 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.75 KIR2DS1 HLA-A HLA-C
7 Increased shRNA abundance (Z-score > 2) GR00366-A-122 10.75 KIR2DS2 KIR2DS1
8 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.75 KIR2DS1
9 Increased shRNA abundance (Z-score > 2) GR00366-A-124 10.75 HLA-C
10 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.75 KIR2DS2 KIR3DS1
11 Increased shRNA abundance (Z-score > 2) GR00366-A-135 10.75 KIR2DS2
12 Increased shRNA abundance (Z-score > 2) GR00366-A-138 10.75 KIR2DL1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-140 10.75 KIR2DS2 KIR2DS1
14 Increased shRNA abundance (Z-score > 2) GR00366-A-147 10.75 KIR2DL1
15 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.75 HLA-C
16 Increased shRNA abundance (Z-score > 2) GR00366-A-156 10.75 HLA-A HLA-C
17 Increased shRNA abundance (Z-score > 2) GR00366-A-162 10.75 HLA-C
18 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.75 KIR2DL1 KIR2DS1 KIR3DS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.75 KIR2DL1 KIR2DS2 KIR3DS1 KIR2DS4
20 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.75 KIR2DL1
21 Increased shRNA abundance (Z-score > 2) GR00366-A-172 10.75 KIR2DS1
22 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.75 KIR2DS2 KIR3DS1
23 Increased shRNA abundance (Z-score > 2) GR00366-A-178 10.75 HLA-A HLA-C
24 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.75 HLA-A HLA-C
25 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.75 KIR2DL1 KIR2DS2 KIR3DS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.75 KIR2DL1 KIR2DS2 KIR2DS1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-198 10.75 KIR2DS2 KIR2DS1
28 Increased shRNA abundance (Z-score > 2) GR00366-A-199 10.75 KIR2DS2 KIR2DS1
29 Increased shRNA abundance (Z-score > 2) GR00366-A-202 10.75 KIR2DS2 KIR2DS1 HLA-C
30 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.75 KIR2DS1
31 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.75 KIR3DS1
32 Increased shRNA abundance (Z-score > 2) GR00366-A-215 10.75 KIR2DS2 KIR2DS4
33 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.75 KIR2DL1
34 Increased shRNA abundance (Z-score > 2) GR00366-A-31 10.75 HLA-A HLA-C
35 Increased shRNA abundance (Z-score > 2) GR00366-A-32 10.75 KIR2DS1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.75 KIR2DS2
37 Increased shRNA abundance (Z-score > 2) GR00366-A-46 10.75 KIR3DS1
38 Increased shRNA abundance (Z-score > 2) GR00366-A-47 10.75 HLA-C
39 Increased shRNA abundance (Z-score > 2) GR00366-A-49 10.75 KIR3DS1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-5 10.75 KIR2DL1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.75 KIR2DS2 KIR3DS1 KIR2DS4
42 Increased shRNA abundance (Z-score > 2) GR00366-A-7 10.75 KIR2DS2 HLA-A HLA-C
43 Increased shRNA abundance (Z-score > 2) GR00366-A-70 10.75 KIR2DS2
44 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.75 KIR2DS2 KIR2DS1
45 Increased shRNA abundance (Z-score > 2) GR00366-A-74 10.75 HLA-A HLA-C
46 Increased shRNA abundance (Z-score > 2) GR00366-A-79 10.75 KIR2DL1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-81 10.75 KIR2DS2 KIR2DS1
48 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.75 KIR2DL1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-9 10.75 KIR2DS4
50 Increased shRNA abundance (Z-score > 2) GR00366-A-93 10.75 KIR2DS2 KIR2DS1 HLA-C

Drugs & Therapeutics for Birdshot Chorioretinopathy

Drugs for Birdshot Chorioretinopathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
2
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
3 tannic acid Approved, Nutraceutical Phase 2
4 Anti-Infective Agents Phase 2
5 Anti-Inflammatory Agents Phase 2
6 Antineoplastic Agents, Hormonal Phase 2
7 Antiviral Agents Phase 2
8 glucocorticoids Phase 2
9 Hormone Antagonists Phase 2
10 Hormones Phase 2
11 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
12 Interferon-alpha Phase 2
13 interferons Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
2 Safety and Efficacy of AIN457 in Noninfectious Uveitis Completed NCT00685399 Phase 2 AIN457;AIN 457;AIN457

Search NIH Clinical Center for Birdshot Chorioretinopathy

Cochrane evidence based reviews: birdshot chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

Anatomical Context for Birdshot Chorioretinopathy

MalaCards organs/tissues related to Birdshot Chorioretinopathy:

38
Eye, Retina, Testes, T Cells

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 108)
# Title Authors Year
1
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. ( 28362542 )
2017
2
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. ( 28456419 )
2017
3
Analysis of autofluorescence pattern in birdshot chorioretinopathy. ( 28451757 )
2017
4
Birdshot Chorioretinopathy. ( 29144845 )
2017
5
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. ( 28844053 )
2017
6
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. ( 28281104 )
2017
7
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. ( 28608031 )
2017
8
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. ( 28816864 )
2017
9
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. ( 28196058 )
2017
10
Feasibility of swept-source OCT for active birdshot chorioretinopathy. ( 28470437 )
2017
11
Multimodal imaging of the disease progression of birdshot chorioretinopathy. ( 27230297 )
2016
12
Choroidal Neovascularization Associated With Birdshot Chorioretinopathy. ( 27183549 )
2016
13
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. ( 27380253 )
2016
14
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. ( 26982209 )
2016
15
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27014945 )
2016
16
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. ( 26579592 )
2016
17
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. ( 27494951 )
2016
18
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. ( 27009556 )
2016
19
Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy. ( 27847627 )
2016
20
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. ( 27632586 )
2016
21
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment. ( 27175923 )
2016
22
Authors reply to Letter to the Editor-In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27015040 )
2016
23
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. ( 27246316 )
2016
24
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. ( 27465484 )
2016
25
WALDENSTRA9M'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. ( 27124793 )
2016
26
Choroidal degeneration in birdshot chorioretinopathy. ( 25811950 )
2015
27
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. ( 26483669 )
2015
28
ERAP1 polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A*29:02 antigen. ( 25892735 )
2015
29
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. ( 26421963 )
2015
30
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015
31
MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY. ( 25635576 )
2015
32
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. ( 26645126 )
2015
33
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. ( 25637598 )
2015
34
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. ( 26246903 )
2015
35
RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. ( 26352557 )
2015
36
Quantitative Assessment of Retinal Degeneration in Birdshot Chorioretinopathy Using Optical Coherence Tomography. ( 26599242 )
2015
37
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. ( 25906054 )
2015
38
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. ( 25434765 )
2015
39
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. ( 24530754 )
2014
40
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. ( 24957906 )
2014
41
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? ( 24678412 )
2014
42
Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. ( 25061107 )
2014
43
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. ( 24336967 )
2014
44
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. ( 24576888 )
2014
45
Birdshot chorioretinopathy. ( 25211040 )
2014
46
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. ( 24831429 )
2014
47
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. ( 25010254 )
2014
48
Interleukin-17 production and T helper 17 cells in peripheral blood mononuclear cells in response to ocular lysate in patients with birdshot chorioretinopathy. ( 24379648 )
2013
49
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. ( 23307137 )
2013
50
Vision-related quality of life in patients with birdshot chorioretinopathy. ( 23289541 )
2013

Variations for Birdshot Chorioretinopathy

Expression for Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for Birdshot Chorioretinopathy

Pathways related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.74 ERAP1 ERAP2 HLA-A HLA-C IL17A KIR2DL1
2
Show member pathways
13.13 ERAP1 ERAP2 HLA-A HLA-C KIR2DL1 KIR2DS1
3
Show member pathways
12.35 HLA-A HLA-C IL17A KIR2DL1 KIR2DS1 KIR2DS2
4
Show member pathways
12.24 HLA-A HLA-C KIR2DL1 KIR2DS1 KIR2DS2 KIR2DS3
5 11.81 HLA-A HLA-C KIR2DL1
6
Show member pathways
11.79 HLA-A HLA-C IL17A
7 11.3 HLA-A HLA-C KIR2DL1 KIR2DS1 KIR2DS2 KIR3DL1
8 11.02 ERAP1 ERAP2 HLA-A HLA-C

GO Terms for Birdshot Chorioretinopathy

Cellular components related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.5 HLA-A KIR2DL1 KIR2DS3 KIR2DS4 KIR3DL1 KIR3DS1
2 plasma membrane GO:0005886 9.36 ERAP1 ERAP2 HLA-A HLA-C KIR2DL1 KIR2DS1
3 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.26 HLA-A HLA-C
4 MHC class I protein complex GO:0042612 9.16 HLA-A HLA-C

Biological processes related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.8 KIR2DS1 KIR2DS2 KIR2DS4 KIR3DS1
2 immune system process GO:0002376 9.78 ERAP1 ERAP2 HLA-A HLA-C
3 cell-cell signaling GO:0007267 9.73 ERAP1 ERAP2 IL17A LNPEP
4 regulation of blood pressure GO:0008217 9.58 ERAP1 ERAP2 LNPEP
5 antigen processing and presentation GO:0019882 9.51 HLA-A HLA-C
6 peptide catabolic process GO:0043171 9.5 ERAP1 ERAP2 LNPEP
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.46 ERAP1 ERAP2 HLA-A HLA-C
8 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.43 HLA-A HLA-C LNPEP
9 regulation of immune response GO:0050776 9.43 HLA-A HLA-C KIR2DL1 KIR2DS1 KIR2DS2 KIR3DL1
10 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.37 ERAP1 ERAP2
11 immune response GO:0006955 9.23 HLA-A HLA-C IL17A KIR2DL1 KIR2DS1 KIR2DS2
12 signal transduction GO:0007165 10 ERAP1 ERAP2 KIR2DS1 KIR2DS2 KIR3DL1 KIR3DS1

Molecular functions related to Birdshot Chorioretinopathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.43 ERAP1 ERAP2 LNPEP
2 peptide binding GO:0042277 9.33 ERAP1 ERAP2 LNPEP
3 peptide antigen binding GO:0042605 9.32 HLA-A HLA-C
4 aminopeptidase activity GO:0004177 9.13 ERAP1 ERAP2 LNPEP
5 metalloaminopeptidase activity GO:0070006 8.8 ERAP1 ERAP2 LNPEP

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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