ARB
MCID: BST008
MIFTS: 48

Bestrophinopathy, Autosomal Recessive (ARB)

Categories: Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Name: Bestrophinopathy, Autosomal Recessive 57 73 38 71
Autosomal Recessive Bestrophinopathy 11 19 58 28 5 75
Bestrophinopathy 11 73 12 43 14 71
Arb 57 73
Retinopathy, Burgess-Black Type 58
Retinopathy Burgess-Black Type 73
Bestrophinopathies 24

Characteristics:


Inheritance:

Autosomal Recessive Bestrophinopathy: Autosomal recessive 58

Prevelance:

Autosomal Recessive Bestrophinopathy: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Bestrophinopathy: All ages 58

GeneReviews:

24
Penetrance Bvmd shows high but reduced (>70%) penetrance, especially when electrooculogram is used as evidence of clinical expression....

Classifications:

Orphanet: 58  
Rare eye diseases


External Ids:

Disease Ontology 11 DOID:0050662
OMIM® 57 611809
ICD10 via Orphanet 32 H35.5
Orphanet 58 ORPHA139455
SNOMED-CT via HPO 69 13164000 247138002 38101003
UMLS 71 C2678493 C3888198

Summaries for Bestrophinopathy, Autosomal Recessive

Disease Ontology: 11 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.

MalaCards based summary: Bestrophinopathy, Autosomal Recessive, also known as autosomal recessive bestrophinopathy, is related to macular retinal edema and macular holes. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1), and among its related pathways/superpathways are Visual phototransduction and Ion channel transport. Affiliated tissues include Eye, and related phenotypes are reduced visual acuity and hypermetropia

Orphanet: 58 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).

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

Wikipedia: 75 Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss,... more...

More information from OMIM: 611809
GeneReviews: NBK1167

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 239)
# Related Disease Score Top Affiliating Genes
1 macular retinal edema 30.4 RPE65 CRB1 BEST1 ABCA4
2 macular holes 30.2 RPE65 RLBP1 ABCA4
3 macular dystrophy, vitelliform, 2 30.1 PRPH2 IMPG2 IMPG1 BEST1
4 macular dystrophy, vitelliform, 3 30.1 PRPH2 IMPG2 IMPG1 BEST1
5 macular dystrophy, dominant cystoid 29.6 RPGR RPE65 CRB1 BEST1 ABCA4
6 retinitis pigmentosa 50 29.5 RPE65 RLBP1 BEST2 BEST1
7 progressive cone dystrophy 29.3 RPGR PRPH2 CNGB3 ABCA4
8 retinal disease 29.2 RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
9 nanophthalmos 29.2 RPGR RPE65 PRPH2 CRB1 BEST1 ABCA4
10 peripheral retinal degeneration 29.0 RPGR RPE65 RLBP1 CNGB3 ABCA4
11 retinitis 29.0 RPGR RPE65 RLBP1 PRPH2 CRB1 ABCA4
12 retinoschisis 1, x-linked, juvenile 28.4 RPGR RPE65 RLBP1 PRPH2 CRB1 CNGB3
13 vitreoretinochoroidopathy 28.1 RPE65 RLBP1 PRPH2 IMPG2 IMPG1 BEST4
14 macular degeneration, age-related, 1 27.9 RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
15 cone dystrophy 27.6 RPGR RPE65 RLBP1 PRPH2 IMPG2 CRB1
16 retinal degeneration 27.6 RPGR RPE65 RLBP1 PRPH2 PRCD CRB1
17 vitelliform macular dystrophy 27.2 RPGR RPE65 RLBP1 PRPH2 IMPG2 IMPG1
18 retinitis pigmentosa 26.8 RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
19 fundus dystrophy 26.0 RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
20 hypertension, essential 10.4
21 microvascular complications of diabetes 1 10.4
22 microvascular complications of diabetes 2 10.4
23 microvascular complications of diabetes 3 10.4
24 microvascular complications of diabetes 4 10.4
25 microvascular complications of diabetes 5 10.4
26 microvascular complications of diabetes 6 10.4
27 microvascular complications of diabetes 7 10.4
28 chronic kidney disease 10.4
29 primary angle-closure glaucoma 10.3
30 patterned macular dystrophy 10.3 PRPH2 BEST1
31 aqueous misdirection 10.3 CRB1 BEST1
32 retinal detachment 10.3
33 microphthalmia, isolated 6 10.3 CRB1 BEST1
34 kidney disease 10.3
35 cold-induced sweating syndrome 3 10.3 RPE65 BEST1
36 acute closed-angle glaucoma 10.3 CRB1 BEST1
37 macular dystrophy, patterned, 2 10.2 PRPH2 BEST1
38 pseudopapilledema 10.2 RPE65 CRB1
39 congestive heart failure 10.2
40 toxic maculopathy 10.2 PRPH2 ABCA4
41 interval angle-closure glaucoma 10.2 BEST1 ABCA4
42 covid-19 10.2
43 severe acute respiratory syndrome 10.2
44 farsightedness 10.2
45 newfoundland rod-cone dystrophy 10.2 RLBP1 PRPH2
46 macular dystrophy, concentric annular 10.2 IMPG1 ABCA4
47 retinitis pigmentosa 91 10.2 IMPG1 ABCA4
48 leber congenital amaurosis 8 10.2 RPE65 CRB1
49 heart disease 10.2
50 lipid metabolism disorder 10.2

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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 reduced visual acuity 30 HP:0007663
2 hypermetropia 30 HP:0000540
3 retinal pigment epithelial atrophy 30 HP:0007722
4 retinal flecks 30 HP:0012045
5 decreased light- and dark-adapted electroretinogram amplitude 30 HP:0000654

Clinical features from OMIM®:

611809 (Updated 08-Dec-2022)

MGI Mouse Phenotypes related to Bestrophinopathy, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.81 ABCA4 BEST1 CNGB1 CRB1 PRCD PRPH2
2 nervous system MP:0003631 9.7 ABCA4 CNGB1 CNGB3 CRB1 IMPG1 IMPG2
3 vision/eye MP:0005391 9.44 ABCA4 BEST1 BEST2 CNGB1 CNGB3 CRB1

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 Autosomal Recessive Bestrophinopathy 28 BEST1

Anatomical Context for Bestrophinopathy, Autosomal Recessive

Organs/tissues related to Bestrophinopathy, Autosomal Recessive:

MalaCards : Eye, Retina
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 185)
# Title Authors PMID Year
1
A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy. 62 57 5
26720466 2015
2
Biallelic mutation of BEST1 causes a distinct retinopathy in humans. 62 57 5
18179881 2008
3
Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. 62 24 5
26333019 2016
4
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. 62 24 5
19375515 2009
5
A novel compound heterozygous mutation in the BEST1 gene causes autosomal recessive Best vitelliform macular dystrophy. 24 5
22422030 2012
6
Autosomal recessive vitelliform macular dystrophy in a large cohort of vitelliform macular dystrophy patients. 24 5
21273940 2011
7
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies. 62 5
34327816 2022
8
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. 62 5
33302512 2020
9
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations. 62 5
32239196 2020
10
Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. 62 5
30593719 2019
11
IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY. 62 5
29215532 2019
12
BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure. 62 5
29507198 2018
13
Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. 62 5
30498755 2018
14
Best Vitelliform Macular Dystrophy. 62 5
30578502 2018
15
Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. 62 5
28687848 2017
16
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY. 62 5
27764019 2017
17
Childhood-onset autosomal recessive bestrophinopathy. 62 5
21825197 2011
18
Functional characterization of bestrophin-1 missense mutations associated with autosomal recessive bestrophinopathy. 62 5
21330666 2011
19
Long-Range PCR-Based NGS Applications to Diagnose Mendelian Retinal Diseases. 5
33546218 2021
20
Patient-specific mutations impair BESTROPHIN1's essential role in mediating Ca2+-dependent Cl- currents in human RPE. 5
29063836 2017
21
The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes. 5
28819299 2017
22
Bestrophin 1 and retinal disease. 62 24
28153808 2017
23
Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies. 5
28181551 2017
24
Biallelic Mutations in CRB1 Underlie Autosomal Recessive Familial Foveal Retinoschisis. 5
27258436 2016
25
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options. 62 24
23290749 2013
26
High frequency of CRB1 mutations as cause of Early-Onset Retinal Dystrophies in the Spanish population. 5
23379534 2013
27
Phenotype and genotype of patients with autosomal recessive bestrophinopathy. 62 24
21809908 2012
28
Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1. 5
21192766 2011
29
Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 62 24
19853238 2009
30
Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane. 5
17110374 2007
31
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. 5
16754206 2006
32
Allelic variation in the VMD2 gene in best disease and age-related macular degeneration. 5
10798642 2000
33
Cortical image density determines the probability of target discovery during active search. 5
10788642 2000
34
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting. 24
32596782 2020
35
THE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION. 24
28225368 2018
36
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations. 24
28749477 2018
37
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 24
28959963 2017
38
Validation of copy number variation analysis for next-generation sequencing diagnostics. 24
28378820 2017
39
Vitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States. 24
27120116 2017
40
Timing, rates and spectra of human germline mutation. 24
26656846 2016
41
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 24
25741868 2015
42
A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode. 24
21467170 2011
43
The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene. 24
21436265 2011
44
Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications. 24
21320969 2011
45
Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. 24
20057903 2009
46
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene. 24
18703557 2008
47
High-definition optical coherence tomography features in vitelliform macular dystrophy. 24
18619572 2008
48
Mutation analysis of the VMD2 gene in thai families with best macular dystrophy. 24
18766995 2008
49
The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains. 24
18509027 2008
50
Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies. 24
18391176 2008

Variations for Bestrophinopathy, Autosomal Recessive

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

5 (show all 34)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BEST1 NM_004183.4(BEST1):c.949G>A (p.Val317Met) SNV Pathogenic
2742 rs121918287 GRCh37: 11:61727364-61727364
GRCh38: 11:61959892-61959892
2 BEST1 NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) SNV Pathogenic
522511 rs1554964287 GRCh37: 11:61729996-61729996
GRCh38: 11:61962524-61962524
3 BEST1 NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) SNV Pathogenic
522530 rs1554963305 GRCh37: 11:61727371-61727371
GRCh38: 11:61959899-61959899
4 BEST1 NM_004183.4(BEST1):c.598C>T (p.Arg200Ter) SNV Pathogenic
2741 rs121918286 GRCh37: 11:61724432-61724432
GRCh38: 11:61956960-61956960
5 BEST1 NM_004183.4(BEST1):c.122T>C (p.Leu41Pro) SNV Pathogenic
2743 rs121918288 GRCh37: 11:61719400-61719400
GRCh38: 11:61951928-61951928
6 BEST1 NM_004183.4(BEST1):c.652C>T (p.Arg218Cys) SNV Pathogenic
99735 rs281865238 GRCh37: 11:61724874-61724874
GRCh38: 11:61957402-61957402
7 BEST1 NM_004183.4(BEST1):c.602T>C (p.Ile201Thr) SNV Pathogenic/Likely Pathogenic
99726 rs199529046 GRCh37: 11:61724436-61724436
GRCh38: 11:61956964-61956964
8 BEST1 NM_004183.4(BEST1):c.584C>T (p.Ala195Val) SNV Pathogenic/Likely Pathogenic
99725 rs200277476 GRCh37: 11:61724418-61724418
GRCh38: 11:61956946-61956946
9 CRB1 NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del) DEL Likely Pathogenic
96659 rs398124615 GRCh37: 1:197297974-197297982
GRCh38: 1:197328844-197328852
10 PRPH2 NM_000322.5(PRPH2):c.422A>G (p.Tyr141Cys) SNV Likely Pathogenic
98666 rs61755781 GRCh37: 6:42689651-42689651
GRCh38: 6:42721913-42721913
11 BEST1 NM_004183.4(BEST1):c.1013G>A (p.Trp338Ter) SNV Likely Pathogenic
1709024 GRCh37: 11:61727428-61727428
GRCh38: 11:61959956-61959956
12 BEST1 NM_004183.4(BEST1):c.400C>G (p.Leu134Val) SNV Likely Pathogenic
427886 rs753614067 GRCh37: 11:61723342-61723342
GRCh38: 11:61955870-61955870
13 BEST1 NM_004183.4(BEST1):c.422G>A (p.Arg141His) SNV Likely Pathogenic
2740 rs121918284 GRCh37: 11:61723364-61723364
GRCh38: 11:61955892-61955892
14 BEST1 NM_004183.4(BEST1):c.70T>C (p.Trp24Arg) SNV Likely Pathogenic
1056587 GRCh37: 11:61719348-61719348
GRCh38: 11:61951876-61951876
15 BEST1 NM_004183.4(BEST1):c.1622del (p.Leu541fs) DEL Likely Pathogenic
1448247 GRCh37: 11:61730248-61730248
GRCh38: 11:61962776-61962776
16 BEST1 NM_004183.4(BEST1):c.388C>A (p.Arg130Ser) SNV Likely Pathogenic
962776 rs750102662 GRCh37: 11:61723330-61723330
GRCh38: 11:61955858-61955858
17 BEST1 NM_004183.4(BEST1):c.638A>G (p.Glu213Gly) SNV Likely Pathogenic
1004951 rs748685592 GRCh37: 11:61724860-61724860
GRCh38: 11:61957388-61957388
18 BEST1 NM_004183.4(BEST1):c.1514_1515del (p.Val505fs) MICROSAT Likely Pathogenic
505511 rs752521456 GRCh37: 11:61730138-61730139
GRCh38: 11:61962666-61962667
19 BEST1 NM_004183.4(BEST1):c.365G>C (p.Arg122Pro) SNV Likely Pathogenic
1676943 GRCh37: 11:61723307-61723307
GRCh38: 11:61955835-61955835
20 BEST1 NM_004183.4(BEST1):c.-37+1G>T SNV Likely Pathogenic
438184 rs1555096248 GRCh37: 11:61717900-61717900
GRCh38: 11:61950428-61950428
21 BEST1 NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) SNV Likely Pathogenic
599167 rs1565392261 GRCh37: 11:61724917-61724917
GRCh38: 11:61957445-61957445
22 BEST1 NM_004183.4(BEST1):c.424_426dup (p.Ser142dup) DUP Likely Pathogenic
829895 rs1591284563 GRCh37: 11:61723363-61723364
GRCh38: 11:61955891-61955892
23 BEST1 NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) SNV Likely Pathogenic
422323 rs775283269 GRCh37: 11:61724880-61724880
GRCh38: 11:61957408-61957408
24 BEST1 NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) SNV Likely Pathogenic
522450 rs1431752515 GRCh37: 11:61724906-61724906
GRCh38: 11:61957434-61957434
25 BEST1 NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) SNV Likely Pathogenic
522452 rs281865225 GRCh37: 11:61723217-61723217
GRCh38: 11:61955745-61955745
26 BEST1 NM_004183.4(BEST1):c.448C>G (p.Arg150Gly) SNV Uncertain Significance
1028198 rs1177798663 GRCh37: 11:61723390-61723390
GRCh38: 11:61955918-61955918
27 BEST1 NM_004183.4(BEST1):c.949G>T (p.Val317Leu) SNV Uncertain Significance
1678581 GRCh37: 11:61727364-61727364
GRCh38: 11:61959892-61959892
28 BEST1 NM_004183.4(BEST1):c.533ACA[1] (p.Asn179del) MICROSAT Uncertain Significance
931318 rs775979290 GRCh37: 11:61724367-61724369
GRCh38: 11:61956895-61956897
29 BEST1 NM_004183.4(BEST1):c.105G>C (p.Glu35Asp) SNV Uncertain Significance
1695423 GRCh37: 11:61719383-61719383
GRCh38: 11:61951911-61951911
30 FTH1, BEST1 NM_004183.4(BEST1):c.1410G>A (p.Thr470=) SNV Benign
193666 rs149698 GRCh37: 11:61730036-61730036
GRCh38: 11:61962564-61962564
31 BEST1 NM_004183.4(BEST1):c.109T>C (p.Leu37=) SNV Benign
99678 rs1800007 GRCh37: 11:61719387-61719387
GRCh38: 11:61951915-61951915
32 BEST1 NM_004183.4(BEST1):c.868-99G>T SNV Benign
1192353 GRCh37: 11:61726871-61726871
GRCh38: 11:61959399-61959399
33 BEST1 NM_004183.4(BEST1):c.636+44C>T SNV Benign
1192494 GRCh37: 11:61724514-61724514
GRCh38: 11:61957042-61957042
34 BEST1 NM_004183.4(BEST1):c.867+327T>G SNV Benign
1181045 GRCh37: 11:61726097-61726097
GRCh38: 11:61958625-61958625

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 rs1417478879
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:0016021 10.51 PRPH2 IMPG2 CRB1 CNGB3 CNGB1 BEST4
2 membrane GO:0016020 10.51 PRPH2 IMPG2 CRB1 CNGB3 CNGB1 BEST4
3 photoreceptor inner segment GO:0001917 9.88 PRPH2 IMPG1 CRB1
4 cell projection GO:0042995 9.76 RPGR PRPH2 PRCD IMPG2 IMPG1 CRB1
5 transmembrane transporter complex GO:1902495 9.67 CNGB3 CNGB1
6 intracellular cyclic nucleotide activated cation channel complex GO:0017071 9.62 CNGB1 CNGB3
7 interphotoreceptor matrix GO:0033165 9.56 IMPG2 IMPG1
8 chloride channel complex GO:0034707 9.56 BEST4 BEST3 BEST2 BEST1
9 photoreceptor outer segment GO:0001750 9.5 RPGR PRPH2 PRCD IMPG1 CRB1 CNGB3

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

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 chloride transmembrane transport GO:1902476 10.03 BEST1 BEST2 BEST3 BEST4
2 photoreceptor cell maintenance GO:0045494 9.93 CRB1 CNGB1 ABCA4
3 monoatomic ion transport GO:0006811 9.88 CNGB3 CNGB1 BEST4 BEST3 BEST2 BEST1
4 detection of light stimulus involved in visual perception GO:0050908 9.85 RPE65 PRPH2 CRB1 CNGB1 BEST1
5 membrane depolarization GO:0051899 9.83 CNGB1 BEST2
6 retinal metabolic process GO:0042574 9.81 RPE65 ABCA4
7 retina development in camera-type eye GO:0060041 9.8 RPE65 PRPH2 CRB1
8 photoreceptor cell outer segment organization GO:0035845 9.8 PRPH2 CRB1 CNGB1
9 vitamin A metabolic process GO:0006776 9.78 RPE65 RLBP1
10 chloride transport GO:0006821 9.77 BEST4 BEST3 BEST2 BEST1
11 response to stimulus GO:0050896 9.73 ABCA4 BEST1 CNGB1 CNGB3 PRCD PRPH2
12 visual perception GO:0007601 9.68 RPGR RPE65 RLBP1 PRPH2 PRCD IMPG2
13 retina morphogenesis in camera-type eye GO:0060042 9.65 CRB1 IMPG2 RPE65

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

# Name GO ID Score Top Affiliating Genes
1 cGMP binding GO:0030553 9.62 CNGB3 CNGB1
2 intracellular cAMP-activated cation channel activity GO:0005222 9.56 CNGB3 CNGB1
3 11-cis retinal binding GO:0005502 9.46 RLBP1 ABCA4
4 intracellular cGMP-activated cation channel activity GO:0005223 9.26 CNGB3 CNGB1
5 chloride channel activity GO:0005254 9.23 BEST4 BEST3 BEST2 BEST1

Sources for Bestrophinopathy, Autosomal Recessive

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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