BSCR
MCID: BRD025
MIFTS: 48

Birdshot Chorioretinopathy (BSCR)

Categories: Eye diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Birdshot Chorioretinopathy

MalaCards integrated aliases for Birdshot Chorioretinopathy:

Name: Birdshot Chorioretinopathy 56 12 74 52 58 29 43 15 71
Birdshot Chorioretinitis 12 52 58 71
Birdshot Retinochoroidopathy 12 52 58
Birdshot Retinochoroiditis 12 52 58
Vitiliginous Choroiditis 12 52 58
Bscr 56 12 52
Multiple Small, Cream-Colored Lesions, Symmetrically Scattered Mainly Around the Optic Disk 52

Characteristics:

Orphanet epidemiological data:

58
birdshot chorioretinopathy
Prevalence: 1-9/1000000 (United States); Age of onset: Adult,Elderly; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
birdshot chorioretinopathy:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0111079
OMIM 56 605808
MeSH 43 D000080365
SNOMED-CT 67 231981005
MESH via Orphanet 44 C537630
ICD10 via Orphanet 33 H30.1
UMLS via Orphanet 72 C1853959
Orphanet 58 ORPHA179
MedGen 41 C1853959
UMLS 71 C0339402 C1853959

Summaries for Birdshot Chorioretinopathy

NIH Rare Diseases : 52 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 .

MalaCards based summary : Birdshot Chorioretinopathy, also known as birdshot chorioretinitis, is related to uveitis and vogt-koyanagi-harada disease. 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 tannic acid and Benzocaine have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and t cells, and related phenotypes are visual loss and ocular hypertension

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 : 74 Birdshot chorioretinopathy now commonly named "birdshot uveitis" or "HLA-A29 uveitis" is a rare form of... more...

More information from OMIM: 605808

Related Diseases for Birdshot Chorioretinopathy

Diseases related to Birdshot Chorioretinopathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 135)
# Related Disease Score Top Affiliating Genes
1 uveitis 31.4 RBP3 IL17A HLA-A
2 vogt-koyanagi-harada disease 30.2 KIR3DL1 IL17A HLA-C HLA-A
3 posterior uveitis 30.1 RBP3 MRAP CCR6
4 chorioretinitis 30.1 RBP3 MRAP IL17A
5 retinal vasculitis 30.0 RBP3 MRAP CCR6
6 sarcoidosis 1 30.0 MRAP HLA-A CCR6
7 choroiditis 29.9 RBP3 MRAP IL17A
8 pustulosis of palm and sole 29.9 MRAP IL17A CCR6
9 spondylitis 29.9 IL17A HLA-C ERAP2 ERAP1 CCR6
10 psoriasis 29.8 KIR3DL1 IL17A HLA-C HLA-A CCR6
11 optic papillitis 29.8 RBP3 MRAP
12 iridocyclitis 29.8 RBP3 MRAP IL17A
13 pars planitis 29.7 RBP3 MRAP HLA-A CCR6
14 spondyloarthropathy 1 29.6 MRAP IL17A ERAP1 CCR6
15 syphilis 29.5 MRAP IL17A HLA-C CCR6
16 spondyloarthropathy 29.2 KIR3DL1 KIR2DL1 IL17A HLA-C HLA-A CCR6
17 iritis 28.8 RBP3 MRAP IL17A ERAP1 CCR6
18 eye disease 28.5 RBP3 MRAP IL17A HLA-C CCR6
19 panuveitis 28.4 RBP3 MRAP IL17A ERAP2 ERAP1 CCR6
20 macular retinal edema 10.8
21 vasculitis 10.8
22 retinal vascular disease 10.6
23 night blindness 10.5
24 retinitis pigmentosa 10.5
25 autoimmune disease 10.4
26 retinal detachment 10.4
27 scleritis 10.4
28 posterior scleritis 10.4
29 cataract 10.4
30 scotoma 10.4
31 idiopathic bronchiectasis 10.4 HLA-C HLA-A
32 colorectal cancer, hereditary nonpolyposis, type 8 10.4 HLA-C HLA-A
33 chronic nk-cell lymphocytosis 10.3 KIR3DL1 KIR2DL1
34 pityriasis rosea 10.3 HLA-C HLA-A
35 stevens-johnson syndrome/toxic epidermal necrolysis 10.3 HLA-C HLA-A
36 3-methylglutaconic aciduria, type iii 10.3
37 inflammatory spondylopathy 10.3
38 retinal disease 10.3
39 retinal degeneration 10.3
40 ocular hypertension 10.3
41 pik3ca-related overgrowth syndrome 10.3
42 guttate psoriasis 10.3 KIR2DS1 HLA-C
43 hemochromatosis, type 1 10.2
44 nonarteritic anterior ischemic optic neuropathy 10.2
45 yemenite deaf-blind hypopigmentation syndrome 10.2
46 macular degeneration, age-related, 1 10.2
47 melanoma, cutaneous malignant 10 10.2
48 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
49 lymphoma 10.2
50 sensorineural hearing loss 10.2

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



Diseases related to Birdshot Chorioretinopathy

Symptoms & Phenotypes for Birdshot Chorioretinopathy

Human phenotypes related to Birdshot Chorioretinopathy:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 visual loss 58 31 hallmark (90%) Very frequent (99-80%) HP:0000572
2 ocular hypertension 58 31 hallmark (90%) Very frequent (99-80%) HP:0007906
3 cystoid macular edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0011505
4 vitritis 58 31 hallmark (90%) Very frequent (99-80%) HP:0011531
5 photoreceptor layer loss on macular oct 58 31 hallmark (90%) Very frequent (99-80%) HP:0030609
6 abnormal chorioretinal morphology 31 hallmark (90%) HP:0000532
7 cataract 58 31 frequent (33%) Frequent (79-30%) HP:0000518
8 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
9 inflammatory abnormality of the eye 58 31 frequent (33%) Frequent (79-30%) HP:0100533
10 optic disc pallor 58 31 frequent (33%) Frequent (79-30%) HP:0000543
11 blurred vision 58 31 frequent (33%) Frequent (79-30%) HP:0000622
12 vitreous floaters 58 31 frequent (33%) Frequent (79-30%) HP:0100832
13 attenuation of retinal blood vessels 58 31 frequent (33%) Frequent (79-30%) HP:0007843
14 retinal thinning 58 31 frequent (33%) Frequent (79-30%) HP:0030329
15 macular hole 58 31 frequent (33%) Frequent (79-30%) HP:0011508
16 blind-spot enlargment 58 31 frequent (33%) Frequent (79-30%) HP:0030644
17 epiretinal membrane 58 31 frequent (33%) Frequent (79-30%) HP:0100014
18 macular scar 58 31 frequent (33%) Frequent (79-30%) HP:0200056
19 retinal detachment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000541
20 choroidal neovascularization 58 31 occasional (7.5%) Occasional (29-5%) HP:0011506
21 arcuate scotoma 58 31 occasional (7.5%) Occasional (29-5%) HP:0030530
22 visual impairment 31 HP:0000505
23 abnormality of the retinal vasculature 58 Very frequent (99-80%)
24 chorioretinal abnormality 58 Very frequent (99-80%)
25 abnormality of the choroid 58 Very frequent (99-80%)
26 posterior uveitis 31 HP:0012123
27 retinal pigment epithelial atrophy 31 HP:0007722

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
chorioretinopathy
white painless eye
particulate debris in vitreous
depigmented lesions of the retinal pigment epithelium

Clinical features from OMIM:

605808

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

26 (show all 31)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-103 10.39 HLA-C HLA-A
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 10.39 KIR2DS1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-105 10.39 KIR2DS2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-109 10.39 KIR2DS1 KIR2DS2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-110 10.39 HLA-C HLA-A
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-118 10.39 KIR2DS1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-123 10.39 KIR2DS1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 10.39 KIR2DS1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-14 10.39 HLA-C
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.39 KIR2DL1 KIR2DS2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-154 10.39 KIR2DS1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-156 10.39 HLA-C HLA-A
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-164 10.39 KIR2DL1 KIR2DS1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.39 KIR2DS2
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-178 10.39 HLA-C HLA-A
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 10.39 KIR2DL1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.39 HLA-C HLA-A
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 10.39 KIR2DL1 KIR2DS2
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 10.39 KIR2DS1 KIR2DS2
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 10.39 KIR2DS1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-202 10.39 KIR2DS1 KIR2DS2 HLA-C
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-31 10.39 HLA-C HLA-A
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.39 KIR2DS2
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 10.39 KIR2DL1
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-7 10.39 HLA-C HLA-A
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-70 10.39 KIR2DS2
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.39 KIR2DS1 KIR2DS2
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.39 KIR2DL1
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-83 10.39 KIR2DL1
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-91 10.39 HLA-C
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 10.39 HLA-C

Drugs & Therapeutics for Birdshot Chorioretinopathy

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

(show all 18)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
tannic acid Approved Phase 2 1401-55-4
2
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
3
Prednisone Approved, Vet_approved Phase 2 53-03-2 5865
4 Immunoglobulins Phase 2
5 Antibodies Phase 2
6 Antibodies, Monoclonal Phase 2
7 Immunologic Factors Phase 2
8 Hormones Phase 2
9 Interferon alpha-2 Phase 2
10 Antineoplastic Agents, Hormonal Phase 2
11 interferons Phase 2
12 glucocorticoids Phase 2
13 Interferon-alpha Phase 2
14 Anti-Infective Agents Phase 2
15 Hormone Antagonists Phase 2
16 Antiviral Agents Phase 2
17 Anti-Inflammatory Agents Phase 2
18
Methotrexate Approved 59-05-2, 1959-05-2 126941

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 An Open-label Proof-of-concept Study With a Double-masked, Dose-ranging Component to Assess the Effects of AIN457 in Patients With Noninfectious Uveitis Completed NCT00685399 Phase 2 AIN457;AIN 457;AIN457
2 Evaluation of Birdshot RETINE CHOROIDOPATHY Treatment by Either Steroid or Interferon alpha2a Completed NCT00508040 Phase 2 interferon alpha 2a;prednisone
3 Clinical Study on the Regulatory T Cells in the Uveitis Patients Treated by Methotrexate Completed NCT01306474
4 Influence of Elevated Baseline Serum Creatinine and Body Composition on Acute Kidney Injury in Cardiac Surgery - The InCreAS Trial Active, not recruiting NCT02598271

Search NIH Clinical Center for Birdshot Chorioretinopathy

Cochrane evidence based reviews: birdshot chorioretinopathy

Genetic Tests for Birdshot Chorioretinopathy

Genetic tests related to Birdshot Chorioretinopathy:

# Genetic test Affiliating Genes
1 Birdshot Chorioretinopathy 29

Anatomical Context for Birdshot Chorioretinopathy

MalaCards organs/tissues related to Birdshot Chorioretinopathy:

40
Eye, Retina, T Cells, Kidney, Testes, Endothelial

Publications for Birdshot Chorioretinopathy

Articles related to Birdshot Chorioretinopathy:

(show top 50) (show all 218)
# Title Authors PMID Year
1
Spontaneous retinopathy in HLA-A29 transgenic mice. 61 56
11226280 2001
2
Oscillatory potentials in patients with birdshot chorioretinopathy. 61
32542469 2020
3
The roles of ERAP1 and ERAP2 in autoimmunity and cancer immunity: New insights and perspective. 61
32135401 2020
4
INDOLENT, NONPROGRESSIVE, MULTIFOCAL CHOROIDAL LESIONS: A Presumed Benign Choroidal Lymphoid Disease. 61
32467483 2020
5
Activation of the interleukin-23/interleukin-17 signalling pathway in autoinflammatory and autoimmune uveitis. 61
32422390 2020
6
EVALUATION OF PHOTORECEPTORS, RETINAL CAPILLARY PLEXUSES, AND CHORIOCAPILLARIS IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 61
30789462 2020
7
Not All That Flickers Is Snow. 61
32235228 2020
8
INCREASED PHOTORECEPTOR OUTER SEGMENT VOLUME FOLLOWING SYSTEMIC TREATMENT OF BIRDSHOT CHORIORETINOPATHY. 61
28816864 2020
9
Reproducibility of Full-field Electroretinogram Measurements in Birdshot Chorioretinopathy Patients: An Intra- and Inter-visit Analysis. 61
31902265 2020
10
Topographic correlation between multifocal electroretinography, microperimetry, and spectral-domain optical coherence tomography of the macula in patients with birdshot chorioretinopathy. 61
31884521 2019
11
Visual acuity loss and development of ocular complications in white dot syndromes: a longitudinal analysis of 3 centers. 61
31385033 2019
12
High Resolution DNA Typing of Human Leukocyte Antigen A29 in Familial Birdshot Chorioretinopathy. 61
31718387 2019
13
Choroidal Structural Changes in Patients with Birdshot Chorioretinopathy. 61
31714872 2019
14
Ocular changes in patients with psoriasis. 61
31864445 2019
15
ADALIMUMAB THERAPY FOR REFRACTORY BIRDSHOT CHORIORETINOPATHY. 61
30067605 2019
16
CHOROIDAL LESIONS UNRESPONSIVE TO FLUOCINOLONE ACETONIDE INTRAVITREAL IMPLANT IN BIRDSHOT CHORIORETINOPATHY. 61
31688672 2019
17
Epidemiology of Adult Uveitis in a Northern Ireland Tertiary Referral Centre. 61
31619852 2019
18
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy. 61
30869756 2019
19
Implications of Birdshot-Like Uveitis on the Pathogenesis of Birdshot Chorioretinopathy-Reply. 61
30869757 2019
20
The genetics, structure and function of the M1 aminopeptidase oxytocinase subfamily and their therapeutic potential in immune-mediated disease. 61
30419264 2019
21
Five-Year Trends in Multifocal Electroretinogram for Patients With Birdshot Chorioretinopathy. 61
30557530 2019
22
Endophthalmitis following cataract surgery and intracameral antibiotic: Moxifloxacin resistant Staphylococcus epidermidis. 61
30662972 2019
23
Unilateral Birdshot Chorioretinopathy in an Elderly Patient. 61
30709079 2019
24
Comparison of choroidal neovascularization secondary to white dot syndromes and age-related macular degeneration by using optical coherence tomography angiography. 61
30643383 2019
25
Non-Occlusive Retinal Vascular Inflammation and Role of Red Blood Cell Deformability in Birdshot Chorioretinopathy. 61
29985708 2019
26
Use of En Face Swept-Source Optical Coherence Tomography Angiography in Identifying Choroidal Flow Voids in 3 Patients With Birdshot Chorioretinopathy. 61
30128478 2018
27
Allele-specific Alterations in the Peptidome Underlie the Joint Association of HLA-A*29:02 and Endoplasmic Reticulum Aminopeptidase 2 (ERAP2) with Birdshot Chorioretinopathy. 61
29769354 2018
28
TWENTY-FOUR MONTH FOLLOW-UP OF TOCILIZUMAB THERAPY FOR REFRACTORY UVEITIS-RELATED MACULAR EDEMA. 61
28520640 2018
29
Non-invasive method of monitoring retinal vasculitis in patients with birdshot chorioretinopathy using optical coherence tomography. 61
28844053 2018
30
Adalimumab in refractory cystoid macular edema associated with birdshot chorioretinopathy. 61
28608031 2018
31
Tocilizumab for the treatment of birdshot uveitis that failed interferon alpha and anti-tumor necrosis factor-alpha therapy: two cases report and literature review. 61
29397459 2018
32
RETINAL CAPILLARY DENSITY IN PATIENTS WITH BIRDSHOT CHORIORETINOPATHY. 61
28196058 2018
33
Dexamethasone implantation in birdshot chorioretinopathy - long-term outcome. 61
30555265 2018
34
How ERAP1 and ERAP2 Shape the Peptidomes of Disease-Associated MHC-I Proteins. 61
30425713 2018
35
NUT carcinoma of the sinonasal tract infiltrating the orbit in a man with birdshot chorioretinitis. 61
29755274 2018
36
Efficacy of Anti-IL6-Receptor Tocilizumab in Refractory Cystoid Macular Edema of Birdshot Retinochoroidopathy Report of Two Cases and Literature Review. 61
27726475 2017
37
Antigen-specificity of antiretinal antibodies in patients with noninfectious uveitis. 61
28985805 2017
38
CLINICOPATHOLOGICAL CORRELATION IN A PATIENT WITH PREVIOUSLY TREATED BIRDSHOT CHORIORETINOPATHY. 61
27465484 2017
39
Birdshot Chorioretinopathy. 61
29144845 2017
40
Efficacy of Methylprednisolone Pulse Followed by Oral Prednisone in Birdshot Chorioretinopathy. 61
27380253 2017
41
Visualization of Photoreceptors in Birdshot Chorioretinopathy Using Adaptive Optics Scanning Laser Ophthalmoscopy: A Pilot Study. 61
28362542 2017
42
Feasibility of swept-source OCT for active birdshot chorioretinopathy. 61
28470437 2017
43
Distinguishing White Dot Syndromes With Patterns of Choroidal Hypoperfusion on Optical Coherence Tomography Angiography. 61
28810039 2017
44
Choroidal Imaging with Swept-Source Optical Coherence Tomography in Patients with Birdshot Chorioretinopathy: Choroidal Reflectivity and Thickness. 61
28456419 2017
45
Fundus Autofluorescence Findings in Eyes With Birdshot Chorioretinitis. 61
28800648 2017
46
Birdshot Chorioretinitis and Fundus Autofluorescence: Novel Insights Into Disease Pathogenesis. 61
28800649 2017
47
IL-6 blockade in the management of non-infectious uveitis. 61
28528519 2017
48
The Value of Diagnostic Work-Up in the Evaluation of White Dot Syndromes. 61
28728181 2017
49
Analysis of autofluorescence pattern in birdshot chorioretinopathy. 61
28451757 2017
50
WALDENSTRÖM'S MACROGLOBULINEMIA MASQUERADING AS BIRDSHOT CHORIORETINOPATHY. 61
27124793 2017

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:

# Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 10 MRAP LNPEP KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1
2 plasma membrane GO:0005886 9.73 MRAP LNPEP KIR3DL1 KIR2DS4 KIR2DS2 KIR2DS1
3 integral component of plasma membrane GO:0005887 9.23 LNPEP KIR3DL1 KIR2DS4 KIR2DS3 KIR2DL1 HLA-C
4 MHC class I protein complex GO:0042612 9.16 HLA-C HLA-A

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

# Name GO ID Score Top Affiliating Genes
1 innate immune response GO:0045087 9.83 KIR2DS4 KIR2DS2 KIR2DS1 HLA-C HLA-A
2 regulation of immune response GO:0050776 9.63 KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1 HLA-C HLA-A
3 peptide catabolic process GO:0043171 9.54 LNPEP ERAP2 ERAP1
4 antigen processing and presentation of endogenous peptide antigen via MHC class I GO:0019885 9.5 HLA-A ERAP2 ERAP1
5 antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent GO:0002480 9.43 LNPEP HLA-C HLA-A
6 antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-independent GO:0002486 9.4 HLA-C HLA-A
7 antigen processing and presentation of peptide antigen via MHC class I GO:0002474 9.26 HLA-C HLA-A ERAP2 ERAP1
8 immune response GO:0006955 9.23 KIR3DL1 KIR2DS2 KIR2DS1 KIR2DL1 IL17A HLA-C

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

# Name GO ID Score Top Affiliating Genes
1 metallopeptidase activity GO:0008237 9.5 LNPEP ERAP2 ERAP1
2 peptide binding GO:0042277 9.43 LNPEP ERAP2 ERAP1
3 TAP binding GO:0046977 9.16 HLA-C HLA-A
4 aminopeptidase activity GO:0004177 9.13 LNPEP ERAP2 ERAP1
5 metalloaminopeptidase activity GO:0070006 8.8 LNPEP ERAP2 ERAP1

Sources for Birdshot Chorioretinopathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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