BLD
MCID: BSL037
MIFTS: 41

Basal Laminar Drusen (BLD)

Categories: Eye diseases, Genetic diseases, Neuronal diseases

Aliases & Classifications for Basal Laminar Drusen

MalaCards integrated aliases for Basal Laminar Drusen:

Name: Basal Laminar Drusen 57 12 72 36 29 13 6 15 39 70
Drusen of Bruch Membrane 57 12 72
Drusen, Early Adult-Onset, Grouped 57
Early Adult-Onset Grouped Drusen 12
Drusen Early Adult-Onset Grouped 72
Drusen, Cuticular 57
Cuticular Drusen 12
Drusen Cuticular 72
Bld 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant
also a recessive form, fleck retina disease (see 228980)


HPO:

31
basal laminar drusen:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0060746
OMIM® 57 126700
KEGG 36 H02108
MeSH 44 D015593
ICD10 32 H35.5
MedGen 41 C0730295
SNOMED-CT via HPO 68 18695008 263681008
UMLS 70 C0730295

Summaries for Basal Laminar Drusen

UniProtKB/Swiss-Prot : 72 Basal laminar drusen: Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. Basal laminar drusen refers to an early adult-onset drusen phenotype that shows a pattern of uniform small, slightly raised yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. In time these small basal laminar drusen may expand and ultimately lead to a serous pigment epithelial detachment of the macula that may result in vision loss.

MalaCards based summary : Basal Laminar Drusen, also known as drusen of bruch membrane, is related to familial drusen and yemenite deaf-blind hypopigmentation syndrome. An important gene associated with Basal Laminar Drusen is CFH (Complement Factor H), and among its related pathways/superpathways are Complement and coagulation cascades and Immune response Lectin induced complement pathway. Affiliated tissues include retina, eye and endothelial, and related phenotypes are progressive visual loss and drusen

Disease Ontology : 12 A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has material basis in mutations in the CFH gene on chromosome 1q31.3.

OMIM® : 57 Drusen are extracellular deposits that accumulate below the retinal pigment epithelium on Bruch membrane. They appear as slightly raised, yellow subretinal nodules randomly scattered in the macula. 'Drusen' is the plural for 'Druse,' German for 'nodule' or 'crystal' (summary by Bok, 2002, Boon et al., 2008). (126700) (Updated 20-May-2021)

KEGG : 36 Basal laminar drusen (BLD, also termed cuticular drusen or early adult onset grouped drusen) is an early-onset-drusen phenotype that shows a pattern of uniform small (25 to 75 micrometer), slightly raised, yellow subretinal nodules randomly scattered in the macula. In later stages, these drusen often become more numerous, with clustered groups of drusen scattered throughout the retina. It has been reported that a variant in CFH gene is strongly associated with this disease.

Related Diseases for Basal Laminar Drusen

Diseases related to Basal Laminar Drusen via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 familial drusen 30.6 EFEMP1 CFH
2 yemenite deaf-blind hypopigmentation syndrome 30.2 EFEMP1 CFH ABCA4
3 membranoproliferative glomerulonephritis 30.1 CFH CFB
4 macular degeneration, age-related, 4 29.8 CFH CFB BEST1 ABCA4
5 choroiditis 29.8 CFH CFB ARMS2 ABCA4
6 vitelliform macular dystrophy 28.4 IMPG2 IMPG1 EFEMP1 CFH BEST1 ARMS2
7 macular degeneration, age-related, 1 27.8 IMPG2 IMPG1 HMCN1 FBLN5 EFEMP1 CFH
8 central serous chorioretinopathy 10.3 CFH ARMS2
9 bullous retinoschisis 10.3 CFH ARMS2
10 bladder diverticulum 10.2 FBLN5 EFEMP1
11 degenerative myopia 10.2 CFH ARMS2
12 atypical hemolytic uremic syndrome with complement gene abnormality 10.2 CFH CFB
13 dense deposit disease 10.2 CFH CFB
14 genetic atypical hemolytic-uremic syndrome 10.2 CFH CFB
15 c3 glomerulopathy 10.2 CFH CFB
16 enterocolitis 10.2 CFH CFB
17 angioid streaks 10.2 CFH ARMS2
18 toxic maculopathy 10.2 ARMS2 ABCA4
19 interval angle-closure glaucoma 10.1 BEST1 ABCA4
20 histoplasmosis 10.1 CFH ARMS2
21 nonsyndromic retinitis pigmentosa 10.1 BEST1 ABCA4
22 retinal detachment 10.1
23 autosomal recessive disease 10.1
24 keratoconus 10.1
25 telangiectasis 10.1
26 color blindness 10.1
27 optic disk drusen 10.1
28 glomerulonephritis 10.1
29 rare retinal disorder 10.1
30 peripheral retinal degeneration 10.1 BEST1 ABCA4
31 complement factor b deficiency 10.1 CFB C2
32 macular dystrophy, dominant cystoid 10.1 BEST1 ABCA4
33 myeloma, multiple 10.1
34 multifocal choroiditis 10.1 CFH CFB ARMS2
35 methylmalonic aciduria and homocystinuria, cblc type 10.1 CFH CFB
36 kuhnt-junius degeneration 10.1 CFH CFB ARMS2
37 macular retinal edema 10.1 CFH BEST1
38 refractive error 10.0
39 macular degeneration, age-related, 14 10.0 CFB C2
40 choroid disease 10.0 BEST1 ABCA4
41 cardiomyopathy, dilated, 1l 10.0 HMCN1 FBLN5 EFEMP1 CFH
42 complement deficiency 9.9 CFH CFB C2
43 hemolytic-uremic syndrome 9.9 CFH CFB C2
44 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 9.9 CFH ARMS2 ABCA4
45 polykaryocytosis inducer 9.9
46 neutropenia 9.9
47 thrombocytopenia 9.9
48 hyperglycemia 9.9
49 scabies 9.9
50 gyrate atrophy of choroid and retina 9.9 BEST1 ABCA4

Graphical network of the top 20 diseases related to Basal Laminar Drusen:



Diseases related to Basal Laminar Drusen

Symptoms & Phenotypes for Basal Laminar Drusen

Human phenotypes related to Basal Laminar Drusen:

31
# Description HPO Frequency HPO Source Accession
1 progressive visual loss 31 HP:0000529
2 drusen 31 HP:0011510

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Eyes:
multiple drusen of bruch membrane
round or oval grape-like lesions of posterior polar retina
pigmentary disturbances with secondary calcifications
progressive loss of vision

Clinical features from OMIM®:

126700 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Basal Laminar Drusen:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ABCA4 BEST1 CFH EFEMP1

Drugs & Therapeutics for Basal Laminar Drusen

Search Clinical Trials , NIH Clinical Center for Basal Laminar Drusen

Genetic Tests for Basal Laminar Drusen

Genetic tests related to Basal Laminar Drusen:

# Genetic test Affiliating Genes
1 Basal Laminar Drusen 29 CFH

Anatomical Context for Basal Laminar Drusen

MalaCards organs/tissues related to Basal Laminar Drusen:

40
Retina, Eye, Endothelial

Publications for Basal Laminar Drusen

Articles related to Basal Laminar Drusen:

(show top 50) (show all 63)
# Title Authors PMID Year
1
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 57 6 61
18252232 2008
2
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. 6
21930971 2011
3
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. 6
21979047 2011
4
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
5
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. 6
20660596 2010
6
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
7
The common Y402H variant in complement factor H gene is not associated with susceptibility to myocardial infarction and its related risk factors. 6
17472578 2007
8
Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction. 6
17396242 2007
9
Structure shows that a glycosaminoglycan and protein recognition site in factor H is perturbed by age-related macular degeneration-linked single nucleotide polymorphism. 6
17360715 2007
10
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 6
17241667 2007
11
The factor H variant associated with age-related macular degeneration (His-384) and the non-disease-associated form bind differentially to C-reactive protein, fibromodulin, DNA, and necrotic cells. 6
17293598 2007
12
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. 6
17398321 2007
13
Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. 6
17198853 2007
14
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. 6
17210858 2007
15
Individuals homozygous for the age-related macular degeneration risk-conferring variant of complement factor H have elevated levels of CRP in the choroid. 6
17079491 2006
16
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. 6
16936733 2006
17
His-384 allotypic variant of factor H associated with age-related macular degeneration has different heparin binding properties from the non-disease-associated form. 6
16787919 2006
18
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. 6
16710702 2006
19
Complement factor H Y402H gene polymorphism, C-reactive protein, and risk of incident myocardial infarction, ischaemic stroke, and venous thromboembolism: a nested case-control study. 6
16229850 2006
20
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. 6
16630992 2006
21
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 6
16816528 2006
22
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. 6
15895326 2005
23
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. 6
15870199 2005
24
Complement factor H variant increases the risk of age-related macular degeneration. 6
15761120 2005
25
Complement factor H polymorphism in age-related macular degeneration. 6
15761122 2005
26
Complement factor H polymorphism and age-related macular degeneration. 6
15761121 2005
27
Drusen proteome analysis: an approach to the etiology of age-related macular degeneration. 57
12391305 2002
28
New insights and new approaches toward the study of age-related macular degeneration. 57
12419853 2002
29
Dominantly inherited drusen of Bruch's membrane. 57
5448127 1970
30
Association of Drusen Phenotype in Age-Related Macular Degeneration from Human Eye-Bank Eyes to Disease Stage and Cause of Death. 61
33227563 2020
31
Occurence of bilateral keratoconus and basal laminar drusen: A chance association or a true relationship? 61
31272700 2019
32
The Nine-Step Minnesota Grading System for Eyebank Eyes With Age Related Macular Degeneration: A Systematic Approach to Study Disease Stages. 61
29075760 2017
33
Clinically detectable drusen domains in fibulin-5-associated age-related macular degeneration (AMD) : Drusen subdomains in fibulin-5 AMD. 61
26694911 2016
34
Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration. 61
25986072 2015
35
[Clinical and pathological observation of seven cases of spontaneous sub-retinal hemorrhage]. 61
25547575 2014
36
Bilateral choroidal neovascularization associated with basal laminar drusen in a 31-year-old. 61
24862792 2014
37
[Clinical findings and macular lesions in basal laminar drusen]. 61
24354264 2013
38
Unusual presentations of type 2 idiopathic macular telangiectasia. 61
23969580 2013
39
Short-term changes of Basal laminar drusen on spectral-domain optical coherence tomography. 61
22626619 2012
40
Clinical evaluation of 3 families with basal laminar drusen caused by novel mutations in the complement factor H gene. 61
22491393 2012
41
Multimodal imaging of autosomal dominant drusen. 61
22496012 2012
42
High-resolution Fourier-domain optical coherence tomography findings in vitelliform detachment associated with basal laminar drusen. 61
21836408 2011
43
Angiography features of early onset drusen. 61
20610475 2011
44
Basal laminar drusen and soft drusen have similar glycan composition. 61
20436539 2010
45
Optical coherence tomography study of adult vitelliform macular detachment in a patient with basal laminar drusen. 61
19949834 2010
46
[Idiopatic parafoveolar telangiectasia associated with pseudoviteliform lesion, basal laminar drusen and optic nerve head drusen]. 61
20827916 2010
47
Photodynamic therapy for choroidal neovascularisation secondary to basal laminar drusen. 61
19798112 2009
48
The spectrum of phenotypes caused by variants in the CFH gene. 61
19297022 2009
49
Vitelliform macular detachment associated with Basal laminar drusen is unresponsive to vascular endothelial growth factor blockade. 61
25390838 2009
50
Autofluorescence of basal laminar drusen. 61
18040253 2007

Variations for Basal Laminar Drusen

ClinVar genetic disease variations for Basal Laminar Drusen:

6 (show top 50) (show all 92)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFH NM_000186.3(CFH):c.350+6T>G SNV Pathogenic 16562 rs387906550 GRCh37: 1:196643098-196643098
GRCh38: 1:196673968-196673968
2 CFH NM_000186.3(CFH):c.3234G>T (p.Arg1078Ser) SNV Pathogenic 16561 rs121913062 GRCh37: 1:196712682-196712682
GRCh38: 1:196743552-196743552
3 CFH NM_000186.3(CFH):c.1222C>T (p.Gln408Ter) SNV Pathogenic 16560 rs121913061 GRCh37: 1:196659255-196659255
GRCh38: 1:196690125-196690125
4 CFH NM_000186.3(CFH):c.1204= (p.His402=) SNV Pathogenic 16549 rs1061170 GRCh37: 1:196659237-196659237
GRCh38: 1:196690107-196690107
5 CFH NM_000186.4(CFH):c.2763T>C (p.Ser921=) SNV Uncertain significance 875243 GRCh37: 1:196706771-196706771
GRCh38: 1:196737641-196737641
6 CFH NM_000186.4(CFH):c.3357C>G (p.Asp1119Glu) SNV Uncertain significance 1032242 GRCh37: 1:196714993-196714993
GRCh38: 1:196745863-196745863
7 CFH NM_000186.4(CFH):c.497G>A (p.Arg166Gln) SNV Uncertain significance 1032243 GRCh37: 1:196646675-196646675
GRCh38: 1:196677545-196677545
8 CFH NM_000186.4(CFH):c.3134-5T>C SNV Uncertain significance 875337 GRCh37: 1:196712577-196712577
GRCh38: 1:196743447-196743447
9 CFH NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) SNV Uncertain significance 16558 rs121913059 GRCh37: 1:196716375-196716375
GRCh38: 1:196747245-196747245
10 CFH NM_000186.4(CFH):c.7C>G (p.Leu3Val) SNV Uncertain significance 875857 GRCh37: 1:196621254-196621254
GRCh38: 1:196652124-196652124
11 CFH NM_000186.4(CFH):c.16A>G (p.Lys6Glu) SNV Uncertain significance 875858 GRCh37: 1:196621263-196621263
GRCh38: 1:196652133-196652133
12 CFH NM_000186.4(CFH):c.879G>A (p.Gln293=) SNV Uncertain significance 875038 GRCh37: 1:196654282-196654282
GRCh38: 1:196685152-196685152
13 CFH NM_000186.4(CFH):c.907C>T (p.Arg303Trp) SNV Uncertain significance 875964 GRCh37: 1:196654310-196654310
GRCh38: 1:196685180-196685180
14 CFH NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) SNV Uncertain significance 875133 GRCh37: 1:196695710-196695710
GRCh38: 1:196726580-196726580
15 CFH NM_000186.4(CFH):c.2596+8G>T SNV Uncertain significance 876153 GRCh37: 1:196706144-196706144
GRCh38: 1:196737014-196737014
16 CFH NM_000186.3(CFH):c.3028G>A (p.Ala1010Thr) SNV Uncertain significance 451521 rs11539862 GRCh37: 1:196711076-196711076
GRCh38: 1:196741946-196741946
17 CFH NM_000186.3(CFH):c.3133+4C>G SNV Uncertain significance 598661 rs374729595 GRCh37: 1:196711185-196711185
GRCh38: 1:196742055-196742055
18 CFH NM_000186.4(CFH):c.3156C>T (p.Pro1052=) SNV Uncertain significance 875390 GRCh37: 1:196712604-196712604
GRCh38: 1:196743474-196743474
19 CFH NM_000186.4(CFH):c.33G>T (p.Met11Ile) SNV Uncertain significance 876852 GRCh37: 1:196621280-196621280
GRCh38: 1:196652150-196652150
20 CFH NM_000186.4(CFH):c.1451C>T (p.Ala484Val) SNV Uncertain significance 876029 GRCh37: 1:196682979-196682979
GRCh38: 1:196713849-196713849
21 CFH NM_000186.3(CFH):c.285T>C (p.Thr95=) SNV Uncertain significance 294482 rs148182625 GRCh37: 1:196643027-196643027
GRCh38: 1:196673897-196673897
22 CFH NM_000186.3(CFH):c.3310+12T>C SNV Uncertain significance 294524 rs757045842 GRCh37: 1:196712770-196712770
GRCh38: 1:196743640-196743640
23 CFH NM_000186.3(CFH):c.770G>A (p.Arg257His) SNV Uncertain significance 294487 rs140107330 GRCh37: 1:196648903-196648903
GRCh38: 1:196679773-196679773
24 CFH NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) SNV Uncertain significance 294500 rs886045745 GRCh37: 1:196696049-196696049
GRCh38: 1:196726919-196726919
25 CFH NM_000186.3(CFH):c.2196G>A (p.Thr732=) SNV Uncertain significance 294499 rs144325643 GRCh37: 1:196696030-196696030
GRCh38: 1:196726900-196726900
26 CFH NM_000186.3(CFH):c.1736T>C (p.Val579Ala) SNV Uncertain significance 294495 rs201411537 GRCh37: 1:196694290-196694290
GRCh38: 1:196725160-196725160
27 CFH NM_000186.3(CFH):c.2957-7A>G SNV Uncertain significance 294512 rs190778135 GRCh37: 1:196710998-196710998
GRCh38: 1:196741868-196741868
28 CFH NM_000186.3(CFH):c.428-3C>T SNV Uncertain significance 294485 rs886045744 GRCh37: 1:196646603-196646603
GRCh38: 1:196677473-196677473
29 CFH NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) SNV Uncertain significance 294503 rs886045746 GRCh37: 1:196706082-196706082
GRCh38: 1:196736952-196736952
30 CFH NM_000186.3(CFH):c.3134-7T>C SNV Uncertain significance 294518 rs779166622 GRCh37: 1:196712575-196712575
GRCh38: 1:196743445-196743445
31 CFH NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) SNV Uncertain significance 294506 rs186711438 GRCh37: 1:196706647-196706647
GRCh38: 1:196737517-196737517
32 CFH NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) SNV Uncertain significance 294513 rs201816520 GRCh37: 1:196711052-196711052
GRCh38: 1:196741922-196741922
33 CFH NM_000186.3(CFH):c.-175T>C SNV Uncertain significance 294474 rs762143457 GRCh37: 1:196621073-196621073
GRCh38: 1:196651943-196651943
34 CFH NM_000186.3(CFH):c.103G>A (p.Gly35Ser) SNV Uncertain significance 294479 rs886045742 GRCh37: 1:196642152-196642152
GRCh38: 1:196673022-196673022
35 CFH NM_000186.3(CFH):c.*14G>A SNV Uncertain significance 294527 rs463726 GRCh37: 1:196716457-196716457
GRCh38: 1:196747327-196747327
36 CFH NM_000186.3(CFH):c.-61A>G SNV Uncertain significance 294477 rs886045741 GRCh37: 1:196621187-196621187
GRCh38: 1:196652057-196652057
37 CFH NM_000186.3(CFH):c.275C>T (p.Pro92Leu) SNV Uncertain significance 294481 rs886045743 GRCh37: 1:196643017-196643017
GRCh38: 1:196673887-196673887
38 CFH NM_000186.3(CFH):c.2784C>A (p.Gly928=) SNV Uncertain significance 294508 rs755926856 GRCh37: 1:196709750-196709750
GRCh38: 1:196740620-196740620
39 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
40 CFH NM_000186.3(CFH):c.2461C>T (p.His821Tyr) SNV Uncertain significance 625916 rs367687415 GRCh37: 1:196706001-196706001
GRCh38: 1:196736871-196736871
41 CFH NM_000186.4(CFH):c.*127G>T SNV Uncertain significance 873579 GRCh37: 1:196716570-196716570
GRCh38: 1:196747440-196747440
42 CFH NM_000186.4(CFH):c.172T>G (p.Ser58Ala) SNV Uncertain significance 874052 GRCh37: 1:196642221-196642221
GRCh38: 1:196673091-196673091
43 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
44 CFH NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) SNV Uncertain significance 874263 GRCh37: 1:196697517-196697517
GRCh38: 1:196728387-196728387
45 CFH NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) SNV Uncertain significance 874381 GRCh37: 1:196709910-196709910
GRCh38: 1:196740780-196740780
46 CFH NM_000186.4(CFH):c.2956+13G>A SNV Uncertain significance 874382 GRCh37: 1:196709935-196709935
GRCh38: 1:196740805-196740805
47 CFH NM_000186.4(CFH):c.3291G>A (p.Thr1097=) SNV Uncertain significance 874522 GRCh37: 1:196712739-196712739
GRCh38: 1:196743609-196743609
48 CFH NM_000186.4(CFH):c.245-15T>C SNV Uncertain significance 874979 GRCh37: 1:196642972-196642972
GRCh38: 1:196673842-196673842
49 CFH NM_000186.4(CFH):c.1418C>T (p.Ala473Val) SNV Uncertain significance 875087 GRCh37: 1:196682946-196682946
GRCh38: 1:196713816-196713816
50 CFH NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) SNV Uncertain significance 874264 GRCh37: 1:196697553-196697553
GRCh38: 1:196728423-196728423

Expression for Basal Laminar Drusen

Search GEO for disease gene expression data for Basal Laminar Drusen.

Pathways for Basal Laminar Drusen

Pathways related to Basal Laminar Drusen according to KEGG:

36
# Name Kegg Source Accession
1 Complement and coagulation cascades hsa04610

GO Terms for Basal Laminar Drusen

Cellular components related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular exosome GO:0070062 9.73 HMCN1 FBLN5 EFEMP1 CFH CFB C2
2 extracellular matrix GO:0031012 9.46 IMPG2 IMPG1 FBLN5 EFEMP1
3 extracellular region GO:0005576 9.23 IMPG2 IMPG1 HMCN1 FBLN5 EFEMP1 CFH
4 interphotoreceptor matrix GO:0033165 8.96 IMPG2 IMPG1

Biological processes related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of complement activation GO:0030449 9.33 CFH CFB C2
2 complement activation, alternative pathway GO:0006957 9.26 CFH CFB
3 complement activation GO:0006956 9.13 CFH CFB C2
4 visual perception GO:0007601 9.1 IMPG2 IMPG1 HMCN1 EFEMP1 BEST1 ABCA4

Molecular functions related to Basal Laminar Drusen according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hyaluronic acid binding GO:0005540 9.16 IMPG2 IMPG1
2 heparin binding GO:0008201 9.13 IMPG2 IMPG1 CFH
3 extracellular matrix structural constituent GO:0005201 8.92 IMPG2 IMPG1 HMCN1 EFEMP1

Sources for Basal Laminar Drusen

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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