BSCR
MCID: BRD025
MIFTS: 47

Birdshot Chorioretinopathy (BSCR) malady

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Birdshot Chorioretinopathy

Aliases & Descriptions for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 54 12 50 56 42 69
Birdshot Chorioretinitis 12 50 56 69
Birdshot Retinochoroidopathy 12 50 56
Birdshot Retinochoroiditis 12 50 56
Vitiliginous Choroiditis 12 50 56
Bscr 12 50
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 50

Characteristics:

Orphanet epidemiological data:

56
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

HPO:

32
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 56  
Rare eye diseases


External Ids:

OMIM 54 605808
Disease Ontology 12 DOID:0111079
ICD10 33 H30.1
MeSH 42 C537630
Orphanet 56 ORPHA179
MESH via Orphanet 43 C537630
UMLS via Orphanet 70 C1853959
ICD10 via Orphanet 34 H30.1
UMLS 69 C1853959

Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 50 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 retinal vasculitis 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 Anti-Infective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and testes, and related phenotype is 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 : 71 Birdshot chorioretinopathy now commonly named \"Birdshot Uveitis\" or \"HLA-A29 Uveitis\" (see below) is... 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 by clinical synopsis from OMIM:

605808

Clinical features from OMIM:

605808

Human phenotypes related to Birdshot Chorioretinopathy:

56 32 (show all 27)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 photophobia 56 32 Frequent (79-30%) HP:0000613
2 blurred vision 56 32 Frequent (79-30%) HP:0000622
3 cataract 56 32 Frequent (79-30%) HP:0000518
4 retinal detachment 56 32 Occasional (29-5%) HP:0000541
5 visual loss 56 32 Very frequent (99-80%) HP:0000572
6 retinal thinning 56 32 Frequent (79-30%) HP:0030329
7 chorioretinal abnormality 56 32 Very frequent (99-80%) HP:0000532
8 inflammatory abnormality of the eye 56 32 Frequent (79-30%) HP:0100533
9 optic disc pallor 56 32 Frequent (79-30%) HP:0000543
10 increased intraocular pressure 56 32 Very frequent (99-80%) HP:0007906
11 vitreous floaters 56 32 Frequent (79-30%) HP:0100832
12 attenuation of retinal blood vessels 56 32 Frequent (79-30%) HP:0007843
13 macular hole 56 32 Frequent (79-30%) HP:0011508
14 blind-spot enlargment 56 32 Frequent (79-30%) HP:0030644
15 epiretinal membrane 56 32 Frequent (79-30%) HP:0100014
16 choroidal neovascularization of the macula 56 32 Occasional (29-5%) HP:0011506
17 arcuate scotoma 56 32 Occasional (29-5%) HP:0030530
18 cystoid macular edema 56 32 Very frequent (99-80%) HP:0011505
19 vitritis 56 32 Very frequent (99-80%) HP:0011531
20 photoreceptor layer loss on macular oct 56 32 Very frequent (99-80%) HP:0030609
21 visual impairment 32 HP:0000505
22 abnormality of the retinal vasculature 56 Very frequent (99-80%)
23 abnormality of the choroid 56 Very frequent (99-80%)
24 macular scarring 56 Frequent (79-30%)
25 posterior uveitis 32 HP:0012123
26 macular scar 32 HP:0200056
27 retinal pigment epithelial atrophy 32 HP:0007722

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

26
id 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 KIR2DS1 KIR2DL1 KIR3DS1
19 Increased shRNA abundance (Z-score > 2) GR00366-A-168 10.75 KIR2DS2 KIR2DL1 KIR2DS4 KIR3DS1
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 KIR2DS2 KIR2DL1 KIR3DS1
26 Increased shRNA abundance (Z-score > 2) GR00366-A-196 10.75 KIR2DS1 KIR2DS2 KIR2DL1
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 KIR2DS4 KIR3DS1
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
51 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.75 KIR2DS4
52 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.63 KIR2DS1
53 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.63 KIR2DS2 KIR2DS1
54 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.63 KIR2DS2 KIR2DS1 KIR3DS1
55 Decreased shRNA abundance (Z-score < -2) GR00366-A-116 10.63 KIR3DS1
56 Decreased shRNA abundance (Z-score < -2) GR00366-A-119 10.63 KIR3DS1
57 Decreased shRNA abundance (Z-score < -2) GR00366-A-134 10.63 KIR3DS1
58 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.63 KIR2DS1 KIR2DS2
59 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.63 KIR2DS2 KIR2DL1
60 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 10.63 KIR3DS1
61 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.63 KIR2DL1
62 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 10.63 KIR2DS1
63 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.63 KIR2DS2
64 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 10.63 KIR2DS2
65 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.63 KIR2DL1
66 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.63 KIR2DS1 KIR2DS2
67 Decreased shRNA abundance (Z-score < -2) GR00366-A-20 10.63 KIR2DS2 KIR2DS1 KIR2DL1
68 Decreased shRNA abundance (Z-score < -2) GR00366-A-203 10.63 KIR2DL1
69 Decreased shRNA abundance (Z-score < -2) GR00366-A-204 10.63 KIR3DS1
70 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 10.63 KIR2DS2 KIR2DS1
71 Decreased shRNA abundance (Z-score < -2) GR00366-A-48 10.63 KIR2DS1 KIR2DS2 KIR2DL1
72 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 10.63 KIR2DL1
73 Decreased shRNA abundance (Z-score < -2) GR00366-A-65 10.63 KIR3DS1
74 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.63 KIR2DS2 KIR3DS1
75 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 10.63 KIR2DS1 KIR3DS1
76 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.63 KIR2DS2
77 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.63 KIR2DS2
78 Decreased shRNA abundance (Z-score < -2) GR00366-A-98 10.63 KIR2DL1

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 11)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
2 Anti-Infective Agents Phase 2
3 Anti-Inflammatory Agents Phase 2
4 Antineoplastic Agents, Hormonal Phase 2
5 Antiviral Agents Phase 2
6 glucocorticoids Phase 2
7 Hormone Antagonists Phase 2
8 Hormones Phase 2
9 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
10 Interferon-alpha Phase 2
11 interferons Phase 2

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluation of Birdshot Retine Choroidopathy Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2
2 Safety and Efficacy of AIN457 in Noninfectious Uveitis Completed NCT00685399 Phase 2

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:

39
Eye, Retina, Testes, T Cells

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 104)
id Title Authors Year
1
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. ( 28362542 )
2017
2
Analysis of autofluorescence pattern in birdshot chorioretinopathy. ( 28451757 )
2017
3
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. ( 28456419 )
2017
4
Electroretinogram and visual field changes in a case of birdshot chorioretinopathy. ( 28281104 )
2017
5
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. ( 28196058 )
2017
6
Feasibility of swept-source OCT for active birdshot chorioretinopathy. ( 28470437 )
2017
7
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. ( 27465484 )
2016
8
In Response to: "Baddar D, Goldstein DA. HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient". ( 27014945 )
2016
9
OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY OF A29 BIRDSHOT CHORIORETINOPATHY COMPLICATED BY RETINAL NEOVASCULARIZATION. ( 27632586 )
2016
10
Choroidal Neovascularization Associated With Birdshot Chorioretinopathy. ( 27183549 )
2016
11
HLA-A29-POSITIVE BIRDSHOT CHORIORETINOPATHY IN AN AFRICAN AMERICAN PATIENT. ( 26579592 )
2016
12
Assessment of retinal vascular calibres as a biomarker of disease activity in birdshot chorioretinopathy. ( 27494951 )
2016
13
Th17 and regulatory T cells are increased in blood of patients with birdshot chorioretinopathy. ( 27009556 )
2016
14
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. ( 27380253 )
2016
15
INTRAVITREAL DEXAMETHASONE IMPLANTATION FOR BIRDSHOT CHORIORETINOPATHY. ( 26982209 )
2016
16
WALDENSTRA9M'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. ( 27124793 )
2016
17
Multimodal imaging of the disease progression of birdshot chorioretinopathy. ( 27230297 )
2016
18
Spatial agreement between Goldmann visual field defects and fundus autofluorescence in patients with birdshot chorioretinopathy. ( 27246316 )
2016
19
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
20
Birdshot chorioretinopathy: current knowledge and new concepts in pathophysiology, diagnosis, monitoring and treatment. ( 27175923 )
2016
21
Visual response and anatomical changes on sequential spectral-domain optical coherence tomography in birdshot chorioretinopathy treated with local corticosteroid therapy. ( 27847627 )
2016
22
Visual Electrodiagnostic Testing in Birdshot Chorioretinopathy. ( 26246903 )
2015
23
The immunopathogenesis of birdshot chorioretinopathy; a bird of many feathers. ( 25434765 )
2015
24
Diagnostic Sensitivity of Indocyanine Green Angiography for Birdshot Chorioretinopathy. ( 25906054 )
2015
25
Choroidal degeneration in birdshot chorioretinopathy. ( 25811950 )
2015
26
RETINAL AND CHOROIDAL VASCULATURE IN BIRDSHOT CHORIORETINOPATHY ANALYZED USING SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY. ( 26352557 )
2015
27
MULTIFOCAL ELECTRORETINOGRAM IN BIRDSHOT CHORIORETINOPATHY. ( 25635576 )
2015
28
Elevated Serum Immune Mediators and Subclinical Inflammation in HLA-A29-associated Birdshot Chorioretinopathy. ( 26645126 )
2015
29
Ozurdex for the Treatment of a Patient with Birdshot Chorioretinopathy. ( 26483669 )
2015
30
Birdshot chorioretinopathy in a male patient with facioscapulohumeral muscular dystrophy. ( 25861398 )
2015
31
ERAP1 polymorphism relevant to inflammatory disease shapes the peptidome of the birdshot chorioretinopathy-associated HLA-A*29:02 antigen. ( 25892735 )
2015
32
PARACENTRAL ACUTE MIDDLE MACULOPATHY IN BIRDSHOT CHORIORETINOPATHY: A NOVEL ASSOCIATION. ( 26421963 )
2015
33
Quantitative Assessment of Retinal Degeneration in Birdshot Chorioretinopathy Using Optical Coherence Tomography. ( 26599242 )
2015
34
Pointwise linear regression analysis of serial Humphrey visual fields and a correlation with electroretinography in birdshot chorioretinopathy. ( 25637598 )
2015
35
Birdshot chorioretinopathy. ( 25211040 )
2014
36
Long-term Clinical and Anatomic Outcome of Birdshot Chorioretinopathy. ( 24336967 )
2014
37
HLA-A29-positive Birdshot Chorioretinopathy in a Hispanic Patient. ( 25010254 )
2014
38
Mycophenolic acid in the treatment of birdshot chorioretinopathy: long-term follow-up. ( 25061107 )
2014
39
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. ( 24957906 )
2014
40
Development and validation of quality-of-life questionnaires for birdshot chorioretinopathy. ( 24576888 )
2014
41
Gender differences in birdshot chorioretinopathy and the white dot syndromes: do they exist? ( 24678412 )
2014
42
Correlation between clinical signs and optical coherence tomography with enhanced depth imaging findings in patients with birdshot chorioretinopathy. ( 24831429 )
2014
43
Detection of choroid- and retina-antigen reactive CD8(+) and CD4(+) T lymphocytes in the vitreous fluid of patients with birdshot chorioretinopathy. ( 24530754 )
2014
44
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
45
Characterization of birdshot chorioretinopathy using extramacular enhanced depth optical coherence tomography. ( 23307137 )
2013
46
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy--reply. ( 24114136 )
2013
47
Treatment of cystoid macular edema in a patient with birdshot chorioretinopathy with bevacizumab. ( 25390538 )
2013
48
When you can have the bird without shooting it!: Extramacular enhanced depth optical coherence tomography in birdshot chorioretinopathy. ( 24114135 )
2013
49
Vision-related quality of life in patients with birdshot chorioretinopathy. ( 23289541 )
2013
50
HLA-A29-Positive Uveitis: Birdshot Chorioretinopathy, What Else? ( 24474930 )
2013

Variations for Birdshot Chorioretinopathy

Expression for Birdshot Chorioretinopathy

Search GEO for disease gene expression data for Birdshot Chorioretinopathy.

Pathways for Birdshot Chorioretinopathy

GO Terms for Birdshot Chorioretinopathy

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

id Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.17 HLA-A KIR2DL1 KIR2DS3 KIR2DS4 KIR3DL1 KIR3DS1
2 integral component of lumenal side of endoplasmic reticulum membrane GO:0071556 9.16 HLA-A HLA-C
3 MHC class I protein complex GO:0042612 8.96 HLA-A HLA-C

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

(show all 11)
id 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 peptide catabolic process GO:0043171 9.5 ERAP1 ERAP2 LNPEP
6 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.46 ERAP1 ERAP2 HLA-A HLA-C
7 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.43 HLA-A HLA-C LNPEP
8 regulation of immune response GO:0050776 9.43 HLA-A HLA-C KIR2DL1 KIR2DS1 KIR2DS2 KIR3DL1
9 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.37 ERAP1 ERAP2
10 immune response GO:0006955 9.23 HLA-A HLA-C IL17A KIR2DL1 KIR2DS1 KIR2DS2
11 signal transduction GO:0007165 10 ERAP1 ERAP2 KIR2DS1 KIR2DS2 KIR3DL1 KIR3DS1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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