Bestrophinopathy, Autosomal Recessive disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

ARB MCID: BST008 MIFTS: 33	Bestrophinopathy, Autosomal Recessive (ARB) Categories: Eye diseases, Genetic diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Name: Bestrophinopathy, Autosomal Recessive ⁵⁸ ⁷⁶ ³⁰ ⁶ ⁷⁴

Bestrophinopathy ⁷⁶ ⁷⁴

Arb ⁵⁸ ⁷⁶

Autosomal Recessive Bestrophinopathy ⁶⁰

Retinopathy, Burgess-Black Type ⁶⁰

Retinopathy Burgess-Black Type ⁷⁶

Characteristics:

Orphanet epidemiological data:

⁶⁰

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

HPO:

³³

bestrophinopathy, autosomal recessive:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Diseases of the eye and adnexa

Disorders of choroid and retina

Other retinal disorders

Hereditary retinal dystrophy

Orphanet: ⁶⁰

Rare eye diseases

External Ids:

OMIM ⁵⁸ 611809

MeSH ⁴⁵ D012164

ICD10 via Orphanet ³⁵ H35.5

Orphanet ⁶⁰ ORPHA139455

MedGen ⁴³ C2678493 C3888198

SNOMED-CT via HPO ⁷⁰ 13164000 247138002 258211005 more

UMLS ⁷⁴ C2678493 C3888198

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Summaries for Bestrophinopathy, Autosomal Recessive

UniProtKB/Swiss-Prot : ⁷⁶ Bestrophinopathy, autosomal recessive: A retinopathy characterized by loss of central vision, an absent electro-oculogram light rise, and electroretinogram anomalies.

MalaCards based summary : Bestrophinopathy, Autosomal Recessive, also known as bestrophinopathy, is related to bestrophinopathy and vitreoretinochoroidopathy. An important gene associated with Bestrophinopathy, Autosomal Recessive is BEST1 (Bestrophin 1). Affiliated tissues include heart, kidney and eye, and related phenotypes are reduced visual acuity and hypermetropia

Description from OMIM: 611809

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Related Diseases for Bestrophinopathy, Autosomal Recessive

Diseases in the Bestrophinopathy family:

Bestrophinopathy, Autosomal Recessive

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

(show all 46)

#	Related Disease	Score	Top Affiliating Genes
1	bestrophinopathy	32.4	BEST1 LOC107984334
2	vitreoretinochoroidopathy	31.7	BEST1 LOC107984334
3	retinitis pigmentosa	29.5	BEST1 LOC107984334
4	retinitis pigmentosa 50	29.3	BEST1 LOC107984334
5	rere-related disorders	10.4
6	microvascular complications of diabetes 3	10.4
7	microvascular complications of diabetes 4	10.4
8	microvascular complications of diabetes 6	10.4
9	microvascular complications of diabetes 7	10.4
10	kidney disease	10.4
11	vitelliform macular dystrophy	10.2
12	best vitelliform macular dystrophy	10.2
13	myocardial infarction	10.2
14	atrial fibrillation	10.2
15	iga glomerulonephritis	10.2
16	bowenoid papulosis	10.2
17	heart disease	10.1
18	macular dystrophy, vitelliform, 2	10.0
19	leber congenital amaurosis 4	10.0
20	macular dystrophy, vitelliform, 3	10.0
21	central serous chorioretinopathy	10.0
22	hypertension, essential	10.0
23	migraine with or without aura 1	10.0
24	osteoporosis	10.0
25	chronic kidney failure	10.0
26	congestive heart failure	10.0
27	diabetes mellitus	10.0
28	ischemic heart disease	10.0
29	dementia	10.0
30	angioedema	10.0
31	apnea, obstructive sleep	9.9
32	diabetes mellitus, noninsulin-dependent	9.9
33	femoral-facial syndrome	9.9
34	systemic lupus erythematosus	9.9
35	coronary heart disease 1	9.9
36	acute myocardial infarction	9.9
37	hepatitis	9.9
38	sleep apnea	9.9
39	hepatitis c	9.9
40	hyperinsulinism	9.9
41	lipid metabolism disorder	9.9
42	skin carcinoma	9.9
43	pneumonia	9.9
44	vascular dementia	9.9
45	systolic heart failure	9.9
46	heparin-induced thrombocytopenia	9.9

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

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Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

³³

#	Description	HPO Source Accession
1	reduced visual acuity ³³	HP:0007663
2	hypermetropia ³³	HP:0000540
3	retinal flecks ³³	HP:0012045
4	retinal pigment epithelial atrophy ³³	HP:0007722
5	decreased light- and dark-adapted electroretinogram amplitude ³³	HP:0000654

Clinical features from OMIM:

611809

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Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.	Active, not recruiting	NCT02162953

Search NIH Clinical Center for Bestrophinopathy, Autosomal Recessive

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Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

#	Genetic test	Affiliating Genes
1	Bestrophinopathy, Autosomal Recessive ³⁰	BEST1

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Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

⁴²

Heart, Kidney, Eye, Testes, Endothelial, Colon, Skin

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Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

(show top 50) (show all 223)

#	Title	Authors	Year
1	Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients. ( 30593719 )	Luo J...Liu X	2019
2	ARB Superiority Over ACE Inhibitors in Coronary Heart Disease: An Alternative Viewpoint. ( 30633371 )	Smith SM...Lee S	2019
3	ARB-1740, a RNA Interference Therapeutic for Chronic Hepatitis B Infection. ( 30403127 )	Thi EP...Lee ACH	2019
4	Hepatitis B Virus Therapeutic Agent ARB-1740 Has Inhibitory Effect on Hepatitis Delta Virus in a New Dually-Infected Humanized Mouse Model. ( 30408957 )	Ye X...Lee ACH	2019
5	Mineralocorticoid receptor blockade suppresses dietary salt-induced ACEI/ARB-resistant albuminuria in non-diabetic hypertension: a sub-analysis of evaluate study. ( 30631161 )	Nishimoto M...Fujita T	2019
6	Genome-wide meta-analysis of SNP-by9-ACEI/ARB and SNP-by-thiazide diuretic and effect on serum potassium in cohorts of European and African ancestry. ( 29855607 )	Irvin MR...Lange LA	2019
7	Anthropogenic influence shapes the distribution of antibiotic resistant bacteria (ARB) in the sediment of Sundarban estuary in India. ( 30180366 )	Bhattacharyya A...Ghosh A	2019
8	Effectiveness of zinc oxide-assisted photocatalysis for concerned constituents in reclaimed wastewater: 1,4-Dioxane, trihalomethanes, antibiotics, antibiotic resistant bacteria (ARB), and antibiotic resistance genes (ARGs). ( 30308890 )	Hwangbo M...Chu KH	2019
9	Discharge treatment with ACE inhibitor/ARB after a heart failure hospitalization is associated with a better prognosis irrespectively of left ventricular ejection fraction. ( 30887642 )	Vicent L...Mart?nez-Sell?s M	2019
10	Long-term clinical outcome between beta-blocker with ACEI or ARB in patients with NSTEMI who underwent PCI with drug-eluting stents. ( 31080471 )	Kim YH...Jeong MH	2019
11	Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population. ( 30498755 )	Gao T...Zhao M	2018
12	NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 28590961 )	Khan KN...Michaelides M	2018
13	AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE. ( 29384981 )	Kalevar A...Fu AD	2018
14	Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy. ( 29540715 )	Marmorstein AD...Pulido JS	2018
15	BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes. ( 29668979 )	Milenkovic A...Weber BHF	2018
16	CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY. ( 30308565 )	Nakanishi A...Terasaki H	2018
17	Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization. ( 30457648 )	Introini U...Bandello F	2018
18	Different CKD aetiologies and duration of ACE inhibitor/ARB use can also affect left ventricular functions. ( 28745136 )	Ok?ul M...??teli C	2018
19	Study of Acute Kidney Injury on 309 Hypertensive Inpatients with ACEI/ARB - Diuretic Treatment. ( 29778133 )	Chen Q...He W	2018
20	Solar photo-Fenton disinfection of 11 antibiotic-resistant bacteria (ARB) and elimination of representative AR genes. Evidence that antibiotic resistance does not imply resistance to oxidative treatment. ( 29986243 )	Giannakis S...Pulgarin C	2018
21	Corrigendum to "Effectiveness of zinc oxide-assisted photocatalysis for concerned constituents in reclaimed wastewater: 1,4-Dioxane, trihalomethanes, antibiotics, antibiotic resistant bacteria (ARB), and antibiotic resistance genes (ARGs)" [Sci. Total Environ. 649 (2019) 1189-1197]. ( 30554651 )	Hwangbo M...Chu KH	2018
22	Developing a multi-center clinical data mart of ACEI and ARB for real-world evidence (RWE). ( 30564448 )	Kim HS...Kim JH	2018
23	Comparison of the Effects of Standard Versus Low-dose Prolonged-release Tacrolimus with or without ACEi/ARB on the Histology and Function of Renal Allografts. ( 30582281 )	Cockfield SM...Rush DN	2018
24	Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy. ( 28687848 )	Tian L...Li Y	2017
25	A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance. ( 28481155 )	Hardin JS...Uwaydat S	2017
26	Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy. ( 28559838 )	Moreira CA...Cunha de Souza E	2017
27	Coupling ARB-based biological and photochemical (UV/TiO2 and UV/S2O82-) techniques to deal with sanitary landfill leachate. ( 27633719 )	Hassan M...Xie B	2017
28	ARB users exhibit a lower fracture incidence than ACE inhibitor users among older hypertensive men. ( 28181652 )	Kwok T...Osteoporotic Fractures in Men (MrOS) Research Group	2017
29	Comparative Effects of an Angiotensin II Receptor Blocker (ARB)/Diuretic vs. ARB/Calcium-Channel Blocker Combination on Uncontrolled Nocturnal Hypertension Evaluated by Information and Communication Technology-Based Nocturnal Home Blood Pressure Monitoring　- The NOCTURNE Study. ( 28321001 )	Kario K...Hoshide S	2017
30	The prevalence of antibiotic-resistant bacteria (ARB) in waters of the Lower Ballona Creek Watershed, Los Angeles County, California. ( 28488226 )	Kawecki S...Lum M	2017
31	Angiotensin Receptor Blockers Do Not Reduce Risk of Myocardial Infarction, Cardiovascular Death, or Total Mortality: Further Evidence for the ARB-MI Paradox. ( 28559493 )	Strauss MH...Hall AS	2017
32	Sodium balance, circadian BP rhythm, heart rate variability, and intrarenal renin-angiotensin-aldosterone and dopaminergic systems in acute phase of ARB therapy. ( 28576855 )	Isobe-Sasaki Y...Ohte N	2017
33	Microstructure Evolution and Mechanical Properties of Al-TiB₂/TiC In Situ Aluminum-Based Composites during Accumulative Roll Bonding (ARB) Process. ( 28772467 )	Nie J...Zhu Y	2017
34	Domain swelling in ARB-type triblock copolymers via self-adjusting effective dispersity. ( 28795184 )	Woo S...Bang J	2017
35	Diuretic or Beta-Blocker for Hypertensive Patients Already Receiving ACEI/ARB and Calcium Channel Blocker. ( 29218625 )	Tsai MS...Chen WJ	2017
36	Complete genome sequence of lytic bacteriophage RG-2014 that infects the multidrug resistant bacterium Delftia tsuruhatensis ARB-1. ( 29270250 )	Bhattacharjee AS...Goel R	2017
37	Renal Protective Effects of Combination of Diltiazem and ACEI/ARB on the Progression of Diabetic Nephropathy: Randomized Controlled Trial. ( 29927180 )	Krairittichai U...Ainwan P	2017
38	Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy. ( 26333019 )	Wivestad Jansson R...Wittstr?m E	2016
39	Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation. ( 27071392 )	Kubota D...Kameya S	2016
40	Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort. ( 27163236 )	Nakanishi A...Terasaki H	2016
41	Appropriate baseline laboratory testing following ACEI or ARB initiation by Medicare FFS beneficiaries. ( 26991354 )	Maciejewski ML...Curtis LH	2016
42	ACE and ARB Agents in the Prophylactic Therapy of Migraine-How Effective Are They? ( 26923605 )	Halker RB...Schwedt TJ	2016
43	PAI-1 in Myocardial Remodeling: Is Pharmacological Suppression by ARB Beneficial? ( 26686568 )	Fujii S	2016
44	Plasma Biomarkers Reflecting Profibrotic Processes in Heart Failure With a Preserved Ejection Fraction: Data From the Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction Study. ( 26754625 )	Zile MR...Prospective Comparison of ARNI With ARB on Management of Heart Failure With Preserved Ejection Fraction (PARAMOUNT) Investigators	2016
45	L/T-type calcium channel blocker reduces non-Gaussianity of heart rate variability in chronic kidney disease patients under preceding treatment with ARB. ( 27094219 )	Fukuda M...Ohte N	2016
46	Angiotensin receptor blockers (ARB) outperform angiotensin-converting enzyme (ACE) inhibitors on ischemic stroke prevention in patients with hypertension and diabetes - A real-world population study in Taiwan. ( 27111172 )	Pai PY...Lee YT	2016
47	Utilization of angiotensin converting enzyme inhibitors (ACEI) and angiotensin receptor blockers (ARB) in patients diagnosed with diabetes: Analysis from the National Ambulatory Medical Care Survey. ( 27419010 )	Ibrahim SL...Sutton BS	2016
48	Efficacy and Safety Assessment of Hypertension Management with Coveram (Perindopril/Amlodipine Fixed Combination) in Patients with Previous Angiotensin Receptor Blocker (ARB) Treatment: Arabian Gulf STRONG Study. ( 27456109 )	Ahmed M...Al-Zakwani I	2016
49	On the top of ARB N/L type Ca channel blocker leads to less elevation of aldosterone. ( 27515419 )	Konoshita T...Genomic Disease Outcome Consortium (G-DOC) Study Investigators	2016
50	Byvalson--a beta blocker/ARB combination for hypertension. ( 27603961 )		2016

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Genes for Bestrophinopathy, Autosomal Recessive

Genes related to Bestrophinopathy, Autosomal Recessive (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	BEST1	Bestrophin 1	Protein Coding	1678.51	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation ⁶⁰ Causative variation ⁷⁶ Genetic Tests ³⁰ GeneCards inferred via : Disorders Variants (show sections)	16754206 21192766 18179881 (more) 22234150 20301346 20301590
2	LOC107984334	Uncharacterized LOC107984334	RNA Gene	8.58	GeneCards inferred via : Variants (show sections)

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Variations for Bestrophinopathy, Autosomal Recessive

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

⁷⁶

#	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

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

⁶ (show all 32)

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	BEST1	NM_004183.3(BEST1): c.422G> A (p.Arg141His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121918284	GRCh37	Chromosome 11, 61723364: 61723364
2	BEST1	NM_004183.3(BEST1): c.422G> A (p.Arg141His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs121918284	GRCh38	Chromosome 11, 61955892: 61955892
3	BEST1	NM_004183.3(BEST1): c.598C> T (p.Arg200Ter)	single nucleotide variant	Pathogenic	rs121918286	GRCh37	Chromosome 11, 61724432: 61724432
4	BEST1	NM_004183.3(BEST1): c.598C> T (p.Arg200Ter)	single nucleotide variant	Pathogenic	rs121918286	GRCh38	Chromosome 11, 61956960: 61956960
5	BEST1	NM_004183.3(BEST1): c.949G> A (p.Val317Met)	single nucleotide variant	Pathogenic	rs121918287	GRCh37	Chromosome 11, 61727364: 61727364
6	BEST1	NM_004183.3(BEST1): c.949G> A (p.Val317Met)	single nucleotide variant	Pathogenic	rs121918287	GRCh38	Chromosome 11, 61959892: 61959892
7	BEST1	NM_004183.3(BEST1): c.122T> C (p.Leu41Pro)	single nucleotide variant	Pathogenic	rs121918288	GRCh37	Chromosome 11, 61719400: 61719400
8	BEST1	NM_004183.3(BEST1): c.122T> C (p.Leu41Pro)	single nucleotide variant	Pathogenic	rs121918288	GRCh38	Chromosome 11, 61951928: 61951928
9	BEST1	NM_004183.3(BEST1): c.418C> G (p.Leu140Val)	single nucleotide variant	Uncertain significance	rs267606678	GRCh37	Chromosome 11, 61723360: 61723360
10	BEST1	NM_004183.3(BEST1): c.418C> G (p.Leu140Val)	single nucleotide variant	Uncertain significance	rs267606678	GRCh38	Chromosome 11, 61955888: 61955888
11	BEST1	NM_004183.3(BEST1): c.584C> T (p.Ala195Val)	single nucleotide variant	Likely pathogenic	rs200277476	GRCh37	Chromosome 11, 61724418: 61724418
12	BEST1	NM_004183.3(BEST1): c.584C> T (p.Ala195Val)	single nucleotide variant	Likely pathogenic	rs200277476	GRCh38	Chromosome 11, 61956946: 61956946
13	BEST1	NM_004183.3(BEST1): c.602T> C (p.Ile201Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199529046	GRCh37	Chromosome 11, 61724436: 61724436
14	BEST1	NM_004183.3(BEST1): c.602T> C (p.Ile201Thr)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs199529046	GRCh38	Chromosome 11, 61956964: 61956964
15	BEST1	NM_004183.3(BEST1): c.652C> T (p.Arg218Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs281865238	GRCh37	Chromosome 11, 61724874: 61724874
16	BEST1	NM_004183.3(BEST1): c.652C> T (p.Arg218Cys)	single nucleotide variant	Pathogenic/Likely pathogenic	rs281865238	GRCh38	Chromosome 11, 61957402: 61957402
17	BEST1	NM_004183.3(BEST1): c.658C> T (p.Gln220Ter)	single nucleotide variant	Likely pathogenic	rs775283269	GRCh37	Chromosome 11, 61724880: 61724880
18	BEST1	NM_004183.3(BEST1): c.658C> T (p.Gln220Ter)	single nucleotide variant	Likely pathogenic	rs775283269	GRCh38	Chromosome 11, 61957408: 61957408
19	BEST1	NM_004183.3(BEST1): c.400C> G (p.Leu134Val)	single nucleotide variant	Pathogenic	rs753614067	GRCh38	Chromosome 11, 61955870: 61955870
20	BEST1	NM_004183.3(BEST1): c.400C> G (p.Leu134Val)	single nucleotide variant	Pathogenic	rs753614067	GRCh37	Chromosome 11, 61723342: 61723342
21	BEST1	NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs)	deletion	Likely pathogenic	rs752521456	GRCh37	Chromosome 11, 61730140: 61730141
22	BEST1	NM_004183.3(BEST1): c.1514_1515delTG (p.Val505Glufs)	deletion	Likely pathogenic	rs752521456	GRCh38	Chromosome 11, 61962668: 61962669
23	BEST1	NM_004183.3(BEST1): c.275G> T (p.Arg92Leu)	single nucleotide variant	Likely pathogenic	rs281865225	GRCh38	Chromosome 11, 61955745: 61955745
24	BEST1	NM_004183.3(BEST1): c.275G> T (p.Arg92Leu)	single nucleotide variant	Likely pathogenic	rs281865225	GRCh37	Chromosome 11, 61723217: 61723217
25	BEST1	NM_004183.3(BEST1): c.684C> G (p.Asp228Glu)	single nucleotide variant	Likely pathogenic	rs1431752515	GRCh37	Chromosome 11, 61724906: 61724906
26	BEST1	NM_004183.3(BEST1): c.684C> G (p.Asp228Glu)	single nucleotide variant	Likely pathogenic	rs1431752515	GRCh38	Chromosome 11, 61957434: 61957434
27	BEST1	NM_004183.3(BEST1): c.956T> C (p.Leu319Pro)	single nucleotide variant	Pathogenic	rs1554963305	GRCh38	Chromosome 11, 61959899: 61959899
28	BEST1	NM_004183.3(BEST1): c.956T> C (p.Leu319Pro)	single nucleotide variant	Pathogenic	rs1554963305	GRCh37	Chromosome 11, 61727371: 61727371
29	BEST1	NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg)	single nucleotide variant	Pathogenic	rs1554964287	GRCh38	Chromosome 11, 61962524: 61962524
30	BEST1	NM_004183.3(BEST1): c.1370C> G (p.Pro457Arg)	single nucleotide variant	Pathogenic	rs1554964287	GRCh37	Chromosome 11, 61729996: 61729996
31	BEST1	NM_004183.4(BEST1): c.695T> G (p.Ile232Ser)	single nucleotide variant	Likely pathogenic		GRCh37	Chromosome 11, 61724917: 61724917
32	BEST1	NM_004183.4(BEST1): c.695T> G (p.Ile232Ser)	single nucleotide variant	Likely pathogenic		GRCh38	Chromosome 11, 61957445: 61957445

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Expression for Bestrophinopathy, Autosomal Recessive

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

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Pathways for Bestrophinopathy, Autosomal Recessive

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GO Terms for Bestrophinopathy, Autosomal Recessive

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⁶⁹ SNOMED-CT

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⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Bestrophinopathy, Autosomal Recessive (ARB)

Aliases & Classifications for Bestrophinopathy, Autosomal Recessive

MalaCards integrated aliases for Bestrophinopathy, Autosomal Recessive:

Characteristics:

Orphanet epidemiological data:

HPO:

Classifications:

External Ids:

Summaries for Bestrophinopathy, Autosomal Recessive

Related Diseases for Bestrophinopathy, Autosomal Recessive

Diseases in the Bestrophinopathy family:

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

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

Symptoms & Phenotypes for Bestrophinopathy, Autosomal Recessive

Human phenotypes related to Bestrophinopathy, Autosomal Recessive:

Clinical features from OMIM:

Drugs & Therapeutics for Bestrophinopathy, Autosomal Recessive

Interventional clinical trials:

Genetic Tests for Bestrophinopathy, Autosomal Recessive

Genetic tests related to Bestrophinopathy, Autosomal Recessive:

Anatomical Context for Bestrophinopathy, Autosomal Recessive

MalaCards organs/tissues related to Bestrophinopathy, Autosomal Recessive:

Publications for Bestrophinopathy, Autosomal Recessive

Articles related to Bestrophinopathy, Autosomal Recessive:

Genes for Bestrophinopathy, Autosomal Recessive

Genes related to Bestrophinopathy, Autosomal Recessive (1 elite genes):

Variations for Bestrophinopathy, Autosomal Recessive

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

ClinVar genetic disease variations for Bestrophinopathy, Autosomal Recessive:

Expression for Bestrophinopathy, Autosomal Recessive

Pathways for Bestrophinopathy, Autosomal Recessive

GO Terms for Bestrophinopathy, Autosomal Recessive

Sources for Bestrophinopathy, Autosomal Recessive