ARB
MCID: BST008
MIFTS: 47

Bestrophinopathy, Autosomal Recessive (ARB)

Categories: Eye diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Name: Bestrophinopathy, Autosomal Recessive 56 73 29 6 71
Bestrophinopathy 12 73 13 43 15 71
Autosomal Recessive Bestrophinopathy 12 52 58
Retinopathy, Burgess-Black Type 52 58
Arb 56 73
Retinopathy Burgess-Black Type 73

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive bestrophinopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; Age of death: any age;

HPO:

31
bestrophinopathy, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 12 DOID:0050662
OMIM 56 611809
ICD10 via Orphanet 33 H35.5
Orphanet 58 ORPHA139455
UMLS 71 C2678493 C3888198

Summaries for Bestrophinopathy, Autosomal Recessive

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 139455 Definition A rare retinal dystrophy, characterized by central visual loss in the first 2 decades of life, associated with an absent electrooculogram (EOG) light rise and a reduced electroretinogram (ERG). Epidemiology The prevalence of ARB is still unknown; to date less than 20 cases have been described in the world literature. Clinical description ARB generally manifests in the first 2 decades of life, but patients may also first become symptomatic as late as the fifth decade of life. Most affected individuals initially present with central visual loss (visual acuity ranging from 20/200 to 20/25) and are usually mildly to highly hyperopic. Additional ocular findings may include short axial length with angle-closure glaucoma , amblyopia, anterior uveitis, strabismus , and color vision defects. Choroidal neovascularization (CNV ) has been described in one case. Leukokoria and esotropia have also been reported. Etiology ARB is caused by compound heterozygous or homozygous mutations in the BEST1 gene (11q12) which encodes the chloride ion channel bestrophin-1 (expressed in the retinal pigment epithelium (RPE)). Mutations in BEST1 reduce or abolish the activity of the channel. It has been proposed that ARB may represent the null phenotype of bestrophin-1 in humans. Diagnostic methods Diagnosis of ARB relies on ophthalmologic examination, familial history and visual electrophysiology revealing an abnormal full-field ERG (reduced amplitudes and delayed implicit times of the rod and cone ERGs). Absent or severe reduction in EOG light rise (Arden ratio= 1.0) is commonly observed. Irregularity of the RPE throughout the posterior fundus, often with scattered punctate flecks (observed by autofluorescence imaging ) is also found. Optical coherence tomography (OCT) imaging shows retinal edema, serous subretinal fluid, subretinal yellowish lesions and scars. Classic vitelliform lesions are not present. Fluorescein angiography reveals widespread patchy areas of hyperfluorescence and signs of mild perivascular leakage in the peripheral retina. Cystoid macular edema may be observed. Diagnosis is confirmed by the genetic screening of BEST1 . Differential diagnosis Differential diagnosis includes Stargardt disease, familial drusen, Best vitelliform macular dystrophy, age-related macular degeneration (see these terms), central serous chorioretinopathy and chorioretinitis. Genetic counseling Transmission is autosomal recessive . Genetic counseling should be offered to at-risk couples (both individuals are carriers of a disease-causing mutation) informing them of the 25% chance of having an affected child. Management and treatment Management of ARB is mainly symptomatic and includes treatment of amblyopia, surgical strabismus correction, prophylactic laser (YAG) peripheral iridotomy to prevent angle closure and treat glaucoma, and intravitreal bevacizumab for the treatment for CNV. Cystoid macular edema may be treated with oral administration of acetazolamide. Gene therapy may offer a possible treatment for ARB in the future. Close monitoring of ARB patients is recommended, including repeated gonioscopy to judge the risk of angle closure. Prognosis Onset of vision loss in patients has been reported to vary between the ages of 4 to 40, and is coincident with initial presentation. Visit the Orphanet disease page for more resources.

MalaCards based summary : Bestrophinopathy, Autosomal Recessive, also known as bestrophinopathy, is related to macular retinal edema and retinitis pigmentosa 50. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Ion channel transport and Metabolism of fat-soluble vitamins. Affiliated tissues include Eye, and related phenotypes are reduced visual acuity and hypermetropia

Disease Ontology : 12 A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has material basis in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12.

UniProtKB/Swiss-Prot : 73 Bestrophinopathy, autosomal recessive: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.

More information from OMIM: 611809

Related Diseases for Bestrophinopathy, Autosomal Recessive

Diseases related to Bestrophinopathy, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 241)
# Related Disease Score Top Affiliating Genes
1 macular retinal edema 30.4 CRB1 BEST1
2 retinitis pigmentosa 50 30.3 PRPH2 BEST1
3 retinitis pigmentosa 32 30.0 IMPG2 ABCA4
4 macular dystrophy, vitelliform, 3 29.9 PRPH2 IMPG2 IMPG1 BEST1
5 retinoschisis 1, x-linked, juvenile 29.8 RPE65 CRB1 ABCA4
6 cone dystrophy 28.9 RPE65 RLBP1 PRPH2 BEST1 ABCA4
7 retinitis 28.9 RPE65 RLBP1 PRPH2 CRB1 ABCA4
8 inherited retinal disorder 28.8 RPE65 PRPH2 IMPG2 CRB1 BEST1 ABCA4
9 retinal disease 28.5 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 CRB1
10 fundus dystrophy 27.9 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 CRB1
11 retinal degeneration 27.9 RPE65 RLBP1 PRPH2 CRB1 BEST2 BEST1
12 macular degeneration, age-related, 1 27.9 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 CRB1
13 retinitis pigmentosa 27.9 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 CRB1
14 vitelliform macular dystrophy 27.3 RPE65 PRPH2 IMPG2 IMPG1 BEST4 BEST3
15 vitreoretinochoroidopathy 11.6
16 microvascular complications of diabetes 3 10.6
17 microvascular complications of diabetes 4 10.6
18 microvascular complications of diabetes 6 10.6
19 microvascular complications of diabetes 7 10.6
20 kidney disease 10.6
21 chronic kidney disease 10.6
22 congestive heart failure 10.5
23 heart disease 10.5
24 lipid metabolism disorder 10.4
25 microphthalmia, isolated 6 10.4 CRB1 BEST1
26 hypertension, essential 10.3
27 macular dystrophy, patterned, 2 10.3 PRPH2 BEST1
28 pseudopapilledema 10.3 RPE65 CRB1
29 macular dystrophy, patterned, 1 10.3 PRPH2 BEST1
30 end stage renal failure 10.3
31 chorioretinal scar 10.3 IMPG2 CRB1
32 atherosclerosis susceptibility 10.3
33 coronary heart disease 1 10.2
34 atrial fibrillation 10.2
35 interval angle-closure glaucoma 10.2 BEST1 ABCA4
36 stargardt macular degeneration 10.2 PRPH2 ABCA4
37 leber congenital amaurosis 10 10.2 RPE65 CRB1
38 leber congenital amaurosis 9 10.2 RPE65 CRB1
39 myocardial infarction 10.2
40 angioedema 10.2
41 iga glomerulonephritis 10.2
42 systolic heart failure 10.2
43 macular degeneration, age-related, 6 10.2 BEST1 ABCA4
44 partial central choroid dystrophy 10.2 PRPH2 ABCA4
45 leber congenital amaurosis 3 10.2 RPE65 CRB1
46 severe early-childhood-onset retinal dystrophy 10.2 RPE65 ABCA4
47 hereditary choroidal atrophy 10.2 PRPH2 ABCA4
48 macular degeneration, age-related, 4 10.2 BEST1 ABCA4
49 retinal detachment 10.2
50 newfoundland rod-cone dystrophy 10.2 RLBP1 PRPH2

Graphical network of the top 20 diseases related to Bestrophinopathy, Autosomal Recessive:



Diseases related to Bestrophinopathy, Autosomal Recessive

Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

31
# Description HPO Frequency HPO Source Accession
1 reduced visual acuity 31 HP:0007663
2 hypermetropia 31 HP:0000540
3 retinal flecks 31 HP:0012045
4 retinal pigment epithelial atrophy 31 HP:0007722
5 decreased light- and dark-adapted electroretinogram amplitude 31 HP:0000654

Clinical features from OMIM:

611809

MGI Mouse Phenotypes related to Bestrophinopathy, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.43 ABCA4 BEST1 CRB1 PRPH2 RLBP1 RPE65
2 vision/eye MP:0005391 9.23 ABCA4 BEST1 BEST2 CRB1 IMPG1 PRPH2

Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Development of Induced Pluripotent Stem Cells From Patients With Best Disease and Other Inherited Retinal Degenerative Diseases. Active, not recruiting NCT02162953

Search NIH Clinical Center for Bestrophinopathy, Autosomal Recessive

Cochrane evidence based reviews: bestrophinopathy

Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Bestrophinopathy, Autosomal Recessive 29 BEST1

Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

40
Retina, Eye, Heart, Bone, Liver, Kidney, Brain
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Bestrophinopathy, Autosomal Recessive:
# Tissue Anatomical CompartmentCell Relevance
1 Eye Retinal Pigmented Epithelium Mature Retinal Pigmented Epithelium Cells Affected by disease, potential therapeutic candidate
2 Eye Retinal Pigmented Epithelium Retinal Pigmented Epithelium Progenitor Cells Affected by disease, potential therapeutic candidate

Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

(show top 50) (show all 73)
# Title Authors PMID Year
1
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 61 56 6
18179881 2008
2
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 61 56
26720466 2015
3
Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies). 6
22234150 2012
4
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 6
21192766 2011
5
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 6
16754206 2006
6
CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. 61
30308565 2020
7
Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile. 61
31969119 2020
8
Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families. 61
31254423 2019
9
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. 61
31789649 2019
10
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB). 61
31766397 2019
11
Visual Acuity and Foveal Structure in Eyes with Fragmented Foveal Avascular Zones. 61
31956075 2019
12
Unique Case of Bilateral Exudative Retinal Detachment following Creatine Supplementation in a Patient with Autosomal Dominant Bestrophinopathy. 61
31762771 2019
13
Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy. 61
31519547 2019
14
Neovascularized Best Disease in Child: Contribution of Optical Coherence Tomography Angiography. 61
31589760 2019
15
A new paradigm for delivering personalised care: integrating genetics with surgical interventions in BEST1 mutations. 61
31455904 2019
16
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. 61
30593719 2019
17
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY. 61
29215532 2019
18
Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients. 61
30781664 2019
19
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. 61
30457648 2018
20
AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. 61
29384981 2018
21
Bestrophinopathy Mimicking Central Serous Chorioretinopathy. 61
31047539 2018
22
Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients. 61
29976937 2018
23
BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. 61
29668979 2018
24
[Analysis on the clinical and retinal imaging characteristics of autosomal recessive bestrophinopathy]. 61
29747355 2018
25
Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. 61
29540715 2018
26
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. 61
28590961 2018
27
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. 61
30498755 2018
28
Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies. 61
29721958 2018
29
Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Clinical Spectrum and Multimodal Imaging Characteristics. 61
28844323 2018
30
Best Vitelliform Macular Dystrophy. 61
30578502 2018
31
A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. 61
28481155 2017
32
Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy. 61
28831140 2017
33
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. 61
28687848 2017
34
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY. 61
27764019 2017
35
[Extensive yellowish fundus changes in a 6-year-old child]. 61
27503085 2017
36
Bestrophin 1 and retinal disease. 61
28153808 2017
37
Bestrophinopathy: An RPE-photoreceptor interface disease. 61
28111324 2017
38
Multimodal Approaches for the Analysis of Retinal Functional Disorders―Focusing on Retinal Detachment. 61
30088405 2017
39
Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series. 61
28056057 2017
40
Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. 61
28559838 2017
41
Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model. 61
27519691 2016
42
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. 61
27163236 2016
43
BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene. 61
26716959 2016
44
Retinitis pigmentosa associated with a mutation in BEST1. 61
29503890 2016
45
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. 61
26333019 2016
46
Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. 61
27071392 2016
47
BEST1: the Best Target for Gene and Cell Therapies. 61
26388462 2015
48
Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation. 61
26200502 2015
49
New best1 mutations in autosomal recessive bestrophinopathy. 61
25545482 2015
50
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy. 61
25265375 2015

Variations for Bestrophinopathy, Autosomal Recessive

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BEST1 NM_004183.4(BEST1):c.598C>T (p.Arg200Ter)SNV Pathogenic 2741 rs121918286 11:61724432-61724432 11:61956960-61956960
2 BEST1 NM_004183.4(BEST1):c.949G>A (p.Val317Met)SNV Pathogenic 2742 rs121918287 11:61727364-61727364 11:61959892-61959892
3 BEST1 NM_004183.4(BEST1):c.122T>C (p.Leu41Pro)SNV Pathogenic 2743 rs121918288 11:61719400-61719400 11:61951928-61951928
4 BEST1 NM_004183.4(BEST1):c.400C>G (p.Leu134Val)SNV Pathogenic 427886 rs753614067 11:61723342-61723342 11:61955870-61955870
5 BEST1 NM_004183.4(BEST1):c.956T>C (p.Leu319Pro)SNV Pathogenic 522530 rs1554963305 11:61727371-61727371 11:61959899-61959899
6 BEST1 NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg)SNV Pathogenic 522511 rs1554964287 11:61729996-61729996 11:61962524-61962524
7 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys)SNV Pathogenic/Likely pathogenic 99735 rs281865238 11:61724874-61724874 11:61957402-61957402
8 BEST1 NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)SNV Likely pathogenic 422323 rs775283269 11:61724880-61724880 11:61957408-61957408
9 BEST1 NM_004183.4(BEST1):c.584C>T (p.Ala195Val)SNV Likely pathogenic 99725 rs200277476 11:61724418-61724418 11:61956946-61956946
10 BEST1 NM_004183.4(BEST1):c.695T>G (p.Ile232Ser)SNV Likely pathogenic 599167 rs1565392261 11:61724917-61724917 11:61957445-61957445
11 BEST1 NM_004183.4(BEST1):c.1512_1513TG[1] (p.Val505fs)short repeat Likely pathogenic 505511 rs752521456 11:61730138-61730139 11:61962666-61962667
12 BEST1 NM_004183.4(BEST1):c.275G>T (p.Arg92Leu)SNV Likely pathogenic 522452 rs281865225 11:61723217-61723217 11:61955745-61955745
13 BEST1 NM_004183.4(BEST1):c.684C>G (p.Asp228Glu)SNV Likely pathogenic 522450 rs1431752515 11:61724906-61724906 11:61957434-61957434
14 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His)SNV Conflicting interpretations of pathogenicity 2740 rs121918284 11:61723364-61723364 11:61955892-61955892
15 BEST1 NM_004183.4(BEST1):c.602T>C (p.Ile201Thr)SNV Conflicting interpretations of pathogenicity 99726 rs199529046 11:61724436-61724436 11:61956964-61956964
16 CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)deletion Conflicting interpretations of pathogenicity 96659 rs398124615 1:197297974-197297982 1:197328844-197328852

UniProtKB/Swiss-Prot genetic disease variations for Bestrophinopathy, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 BEST1 p.Arg141His VAR_000847 rs121918284
2 BEST1 p.Asp312Asn VAR_000868 rs281865277
3 BEST1 p.Leu41Pro VAR_017371 rs121918288
4 BEST1 p.Ala195Val VAR_017381 rs200277476
5 BEST1 p.Pro152Ala VAR_043493 rs141747887
6 BEST1 p.Val317Met VAR_043494 rs121918287
7 BEST1 p.Met325Thr VAR_043495 rs368387447
8 BEST1 p.Leu140Val VAR_063169 rs267606678
9 BEST1 p.Arg202Trp VAR_075347 rs765998048

Expression for Bestrophinopathy, Autosomal Recessive

Search GEO for disease gene expression data for Bestrophinopathy, Autosomal Recessive.

Pathways for Bestrophinopathy, Autosomal Recessive

GO Terms for Bestrophinopathy, Autosomal Recessive

Cellular components related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 9.9 RPE65 PRPH2 IMPG2 DEFB106B DEFB106A CRB1
2 microvesicle GO:1990742 8.96 DEFB106B DEFB106A
3 chloride channel complex GO:0034707 8.92 BEST4 BEST3 BEST2 BEST1

Biological processes related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 9.76 BEST4 BEST3 BEST2 BEST1
2 response to stimulus GO:0050896 9.73 RPE65 RLBP1 BEST1 ABCA4
3 retinoid metabolic process GO:0001523 9.5 RPE65 RLBP1 ABCA4
4 chloride transmembrane transport GO:1902476 9.46 BEST4 BEST3 BEST2 BEST1
5 detection of light stimulus involved in visual perception GO:0050908 9.4 RPE65 BEST1
6 vitamin A metabolic process GO:0006776 9.37 RPE65 RLBP1
7 antifungal innate immune response GO:0061760 9.26 DEFB106B DEFB106A
8 chloride transport GO:0006821 9.26 BEST4 BEST3 BEST2 BEST1
9 visual perception GO:0007601 9.17 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 BEST1

Molecular functions related to Bestrophinopathy, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.33 IMPG2 DEFB106B DEFB106A
2 lipopolysaccharide binding GO:0001530 9.26 DEFB106B DEFB106A
3 CCR2 chemokine receptor binding GO:0031727 8.96 DEFB106B DEFB106A
4 chloride channel activity GO:0005254 8.92 BEST4 BEST3 BEST2 BEST1

Sources for Bestrophinopathy, Autosomal Recessive

3 CDC
7 CNVD
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11 DGIdb
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