ARMD4
MCID: MCL038
MIFTS: 36

Macular Degeneration, Age-Related, 4 (ARMD4)

Categories: Blood diseases, Eye diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Macular Degeneration, Age-Related, 4

MalaCards integrated aliases for Macular Degeneration, Age-Related, 4:

Name: Macular Degeneration, Age-Related, 4 57 72 13 70
Armd4 57 12 72
Age Related Macular Degeneration 4 12 15
Age-Related Macular Degeneration 4 29 6
Macular Degeneration, Age-Related, Type 4 39

Characteristics:

HPO:

31
macular degeneration, age-related, 4:
Inheritance polygenic inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110017
OMIM® 57 610698
OMIM Phenotypic Series 57 PS603075
MeSH 44 D008268
MedGen 41 C1853147
SNOMED-CT via HPO 68 422338006
UMLS 70 C1853147

Summaries for Macular Degeneration, Age-Related, 4

UniProtKB/Swiss-Prot : 72 Macular degeneration, age-related, 4: A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.

MalaCards based summary : Macular Degeneration, Age-Related, 4, also known as armd4, is related to kuhnt-junius degeneration and macular degeneration, age-related, 1. An important gene associated with Macular Degeneration, Age-Related, 4 is CFH (Complement Factor H), and among its related pathways/superpathways is Staphylococcus aureus infection. Affiliated tissues include eye, retina and endothelial, and related phenotypes are macular degeneration and pigmentation

Disease Ontology : 12 An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31.

More information from OMIM: 610698 PS603075

Related Diseases for Macular Degeneration, Age-Related, 4

Diseases in the Macular Degeneration, Early-Onset family:

Macular Degeneration, Age-Related, 2 Macular Degeneration, Age-Related, 1
Macular Degeneration, Age-Related, 7 Macular Degeneration, Age-Related, 4
Macular Degeneration, Age-Related, 9 Macular Degeneration, Age-Related, 10
Macular Degeneration, Age-Related, 11 Macular Degeneration, Age-Related, 6
Macular Degeneration, Age-Related, 5 Macular Degeneration, Age-Related, 8
Macular Degeneration, Age-Related, 12 Macular Degeneration, Age-Related, 13
Macular Degeneration, Age-Related, 14 Macular Degeneration, Age-Related, 15

Diseases related to Macular Degeneration, Age-Related, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 59)
# Related Disease Score Top Affiliating Genes
1 kuhnt-junius degeneration 30.0 CFH CFB
2 macular degeneration, age-related, 1 28.9 SFTA3 ELOVL4 CFH CFB BEST1 ABCA4
3 eye disease 28.8 SFTA3 CFH CFB BEST1 ABCA4
4 stargardt macular degeneration 10.1 ELOVL4 ABCA4
5 stargardt disease 3 10.1 ELOVL4 ABCA4
6 macular retinal edema 10.1 CFH BEST1
7 cataract 10.1
8 interval angle-closure glaucoma 10.1 BEST1 ABCA4
9 yemenite deaf-blind hypopigmentation syndrome 10.1 CFH ABCA4
10 nonsyndromic retinitis pigmentosa 10.1 BEST1 ABCA4
11 retinitis pigmentosa 19 10.1 ELOVL4 ABCA4
12 chorioretinal scar 10.1 BEST1 ABCA4
13 peripheral retinal degeneration 10.1 BEST1 ABCA4
14 macular dystrophy, dominant cystoid 10.1 BEST1 ABCA4
15 isolated macular dystrophy 10.0 BEST1 ABCA4
16 bestrophinopathy, autosomal recessive 10.0 BEST1 ABCA4
17 choroid disease 10.0 BEST1 ABCA4
18 gyrate atrophy of choroid and retina 10.0 BEST1 ABCA4
19 optic nerve hypoplasia, bilateral 10.0 BEST1 ABCA4
20 atypical hemolytic uremic syndrome with complement gene abnormality 10.0 CFH CFB
21 multifocal choroiditis 10.0 CFH CFB
22 dense deposit disease 10.0 CFH CFB
23 genetic atypical hemolytic-uremic syndrome 9.9 CFH CFB
24 hemolytic-uremic syndrome 9.9 CFH CFB
25 c3 glomerulopathy 9.9 CFH CFB
26 enterocolitis 9.9 CFH CFB
27 vitreoretinochoroidopathy 9.9 ELOVL4 BEST1 ABCA4
28 hereditary retinal dystrophy 9.9 ELOVL4 BEST1 ABCA4
29 choroideremia 9.9 BEST1 ABCA4
30 late-onset retinal degeneration 9.9 ELOVL4 BEST1 ABCA4
31 retinal degeneration 9.9 ELOVL4 BEST1 ABCA4
32 complement component 2 deficiency 9.9 CFH CFB
33 fundus albipunctatus 9.9 ELOVL4 BEST1 ABCA4
34 methylmalonic aciduria and homocystinuria, cblc type 9.9 CFH CFB
35 sensory system disease 9.9 CFH BEST1 ABCA4
36 complement deficiency 9.9 CFH CFB
37 retinoschisis 1, x-linked, juvenile 9.9 BEST1 ABCA4
38 membranoproliferative glomerulonephritis 9.8 CFH CFB
39 severe pre-eclampsia 9.8 CFH CFB
40 stargardt disease 1 9.8 BEST1 ABCA4
41 achromatopsia 9.7 SFTA3 BEST1 ABCA4
42 doyne honeycomb retinal dystrophy 9.7 ELOVL4 CFH BEST1 ABCA4
43 cone-rod dystrophy 6 9.7 BEST1 ABCA4
44 congenital stationary night blindness 9.7 SFTA3 BEST1 ABCA4
45 choroiditis 9.7 CFH CFB ABCA4
46 cone dystrophy 9.7 SFTA3 BEST1 ABCA4
47 usher syndrome 9.6 SFTA3 BEST1 ABCA4
48 leber plus disease 9.5 SFTA3 ELOVL4 BEST1 ABCA4
49 basal laminar drusen 9.5 CFH CFB BEST1 ABCA4
50 vitelliform macular dystrophy 9.4 SFTA3 ELOVL4 CFH BEST1 ABCA4

Graphical network of the top 20 diseases related to Macular Degeneration, Age-Related, 4:



Diseases related to Macular Degeneration, Age-Related, 4

Symptoms & Phenotypes for Macular Degeneration, Age-Related, 4

Human phenotypes related to Macular Degeneration, Age-Related, 4:

31
# Description HPO Frequency HPO Source Accession
1 macular degeneration 31 HP:0000608

Clinical features from OMIM®:

610698 (Updated 05-Apr-2021)

MGI Mouse Phenotypes related to Macular Degeneration, Age-Related, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 ABCA4 BEST1 CFH ELOVL4

Drugs & Therapeutics for Macular Degeneration, Age-Related, 4

Search Clinical Trials , NIH Clinical Center for Macular Degeneration, Age-Related, 4

Genetic Tests for Macular Degeneration, Age-Related, 4

Genetic tests related to Macular Degeneration, Age-Related, 4:

# Genetic test Affiliating Genes
1 Age-Related Macular Degeneration 4 29 CFH

Anatomical Context for Macular Degeneration, Age-Related, 4

MalaCards organs/tissues related to Macular Degeneration, Age-Related, 4:

40
Eye, Retina, Endothelial

Publications for Macular Degeneration, Age-Related, 4

Articles related to Macular Degeneration, Age-Related, 4:

(show top 50) (show all 59)
# Title Authors PMID Year
1
Rare complement factor H variant associated with age-related macular degeneration in the Amish. 6 57
24906858 2014
2
A rare penetrant mutation in CFH confers high risk of age-related macular degeneration. 57 6
22019782 2011
3
Independent effects of complement factor H Y402H polymorphism and cigarette smoking on risk of age-related macular degeneration. 6 57
17241667 2007
4
Population-based study of early age-related macular degeneration: role of the complement factor H Y402H polymorphism in bilateral but not unilateral disease. 6 57
17198853 2007
5
Complement factor H polymorphism p.Tyr402His and cuticular Drusen. 57 6
17210858 2007
6
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. 6 57
16936733 2006
7
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. 6 57
16936732 2006
8
No association between complement factor H gene polymorphism and exudative age-related macular degeneration in Japanese. 57 6
16710702 2006
9
A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. 6 57
15870199 2005
10
Complement factor H variant increases the risk of age-related macular degeneration. 57 6
15761120 2005
11
Complement factor H polymorphism and age-related macular degeneration. 57 6
15761121 2005
12
Complement factor H polymorphism in age-related macular degeneration. 6 57
15761122 2005
13
Joint Associations of Diet, Lifestyle, and Genes with Age-Related Macular Degeneration. 57
26354764 2015
14
Phenotypic Characterization of Complement Factor H R1210C Rare Genetic Variant in Age-Related Macular Degeneration. 6
25880396 2015
15
Analysis of rare variants in the CFH gene in patients with the cuticular drusen subtype of age-related macular degeneration. 6
25814826 2015
16
Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration. 6
24498017 2014
17
Identification of a rare coding variant in complement 3 associated with age-related macular degeneration. 6
24036949 2013
18
Seven new loci associated with age-related macular degeneration. 57
23455636 2013
19
Complement factor H binds malondialdehyde epitopes and protects from oxidative stress. 6
21979047 2011
20
Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant. 6
21930971 2011
21
Genome-wide association study identifies two susceptibility loci for exudative age-related macular degeneration in the Japanese population. 6
21909106 2011
22
Reducing the genetic risk of age-related macular degeneration with dietary antioxidants, zinc, and ω-3 fatty acids: the Rotterdam study. 6
21670343 2011
23
Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina. 6
20660596 2010
24
Associations of CFHR1-CFHR3 deletion and a CFH SNP to age-related macular degeneration are not independent. 57
20581873 2010
25
Multilocus analysis of age-related macular degeneration. 6
19259132 2009
26
Structure of the N-terminal region of complement factor H and conformational implications of disease-linked sequence variations. 6
18252712 2008
27
Basal laminar drusen caused by compound heterozygous variants in the CFH gene. 6
18252232 2008
28
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
29
Lack of association between complement factor H polymorphisms and coronary artery disease or myocardial infarction. 6
17396242 2007
30
Genetics of pigment changes and geographic atrophy. 57
17591865 2007
31
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
32
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
33
Association of complement factor H Y402H gene polymorphism with different subtypes of exudative age-related macular degeneration. 6
17398321 2007
34
Primary glomerulonephritis with isolated C3 deposits: a new entity which shares common genetic risk factors with haemolytic uraemic syndrome. 6
17018561 2007
35
A prospective study of 2 major age-related macular degeneration susceptibility alleles and interactions with modifiable risk factors. 57
17210852 2007
36
CFH, ELOVL4, PLEKHA1 and LOC387715 genes and susceptibility to age-related maculopathy: AREDS and CHS cohorts and meta-analyses. 57
17000705 2006
37
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
38
A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration. 57
16998489 2006
39
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
40
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
41
Synergic effect of polymorphisms in ERCC6 5' flanking region and complement factor H on age-related macular degeneration predisposition. 57
16754848 2006
42
A common polymorphism in the complement factor H gene is associated with increased risk of myocardial infarction: the Rotterdam Study. 6
16630992 2006
43
CFH gene variant, Y402H, and smoking, body mass index, environmental associations with advanced age-related macular degeneration. 6
16816528 2006
44
Candidate gene analysis suggests a role for fatty acid biosynthesis and regulation of the complement system in the etiology of age-related maculopathy. 57
15930014 2005
45
Strong association of the Y402H variant in complement factor H at 1q32 with susceptibility to age-related macular degeneration. 6
15895326 2005
46
Mutations in factor H reduce binding affinity to C3b and heparin and surface attachment to endothelial cells in hemolytic uremic syndrome. 6
12697737 2003
47
«Do Not Do» recommendations for retinopathies: A mixed consensus study. 61
33612365 2021
48
Aflibercept for age-related macular degeneration: 4-year outcomes of a 'treat-and-extend' regimen with exit-strategy. 61
33127830 2020
49
New Frontiers in Retina: highlights of the 2020 angiogenesis, exudation and degeneration symposium. 61
32477592 2020
50
Effects of Repeated Intravitreal Injections of Dexamethasone Implants on Intraocular Pressure: A 4-Year Study. 61
33154620 2020

Variations for Macular Degeneration, Age-Related, 4

ClinVar genetic disease variations for Macular Degeneration, Age-Related, 4:

6 (show top 50) (show all 88)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CFH NM_000186.3(CFH):c.3628C>T (p.Arg1210Cys) SNV Pathogenic 16558 rs121913059 GRCh37: 1:196716375-196716375
GRCh38: 1:196747245-196747245
2 CFH NM_000186.3(CFH):c.1204= (p.His402=) SNV risk factor 16549 rs1061170 GRCh37: 1:196659237-196659237
GRCh38: 1:196690107-196690107
3 CFH NM_000186.3(CFH):c.2237-543= SNV risk factor 16557 rs1410996 GRCh37: 1:196696933-196696933
GRCh38: 1:196727803-196727803
4 CFH NM_000186.3(CFH):c.1419G>C (p.Ala473=) SNV risk factor 16556 rs2274700 GRCh37: 1:196682947-196682947
GRCh38: 1:196713817-196713817
5 CFH NM_000186.3(CFH):c.1507C>G (p.Pro503Ala) SNV risk factor 157562 rs570523689 GRCh37: 1:196683035-196683035
GRCh38: 1:196713905-196713905
6 CFH NM_000186.3(CFH):c.2215A>G (p.Thr739Ala) SNV Uncertain significance 294500 rs886045745 GRCh37: 1:196696049-196696049
GRCh38: 1:196726919-196726919
7 CFH NM_000186.3(CFH):c.3134-7T>C SNV Uncertain significance 294518 rs779166622 GRCh37: 1:196712575-196712575
GRCh38: 1:196743445-196743445
8 CFH NM_000186.3(CFH):c.2784C>A (p.Gly928=) SNV Uncertain significance 294508 rs755926856 GRCh37: 1:196709750-196709750
GRCh38: 1:196740620-196740620
9 CFH NM_000186.3(CFH):c.103G>A (p.Gly35Ser) SNV Uncertain significance 294479 rs886045742 GRCh37: 1:196642152-196642152
GRCh38: 1:196673022-196673022
10 CFH NM_000186.3(CFH):c.*14G>A SNV Uncertain significance 294527 rs463726 GRCh37: 1:196716457-196716457
GRCh38: 1:196747327-196747327
11 CFH NM_000186.3(CFH):c.2957-7A>G SNV Uncertain significance 294512 rs190778135 GRCh37: 1:196710998-196710998
GRCh38: 1:196741868-196741868
12 CFH NM_000186.3(CFH):c.-61A>G SNV Uncertain significance 294477 rs886045741 GRCh37: 1:196621187-196621187
GRCh38: 1:196652057-196652057
13 CFH NM_000186.3(CFH):c.275C>T (p.Pro92Leu) SNV Uncertain significance 294481 rs886045743 GRCh37: 1:196643017-196643017
GRCh38: 1:196673887-196673887
14 CFH NM_000186.3(CFH):c.3004G>C (p.Gly1002Arg) SNV Uncertain significance 294513 rs201816520 GRCh37: 1:196711052-196711052
GRCh38: 1:196741922-196741922
15 CFH NM_000186.3(CFH):c.2196G>A (p.Thr732=) SNV Uncertain significance 294499 rs144325643 GRCh37: 1:196696030-196696030
GRCh38: 1:196726900-196726900
16 CFH NM_000186.3(CFH):c.2542G>A (p.Gly848Arg) SNV Uncertain significance 294503 rs886045746 GRCh37: 1:196706082-196706082
GRCh38: 1:196736952-196736952
17 CFH NM_000186.3(CFH):c.285T>C (p.Thr95=) SNV Uncertain significance 294482 rs148182625 GRCh37: 1:196643027-196643027
GRCh38: 1:196673897-196673897
18 CFH NM_000186.3(CFH):c.2639C>T (p.Thr880Ile) SNV Uncertain significance 294506 rs186711438 GRCh37: 1:196706647-196706647
GRCh38: 1:196737517-196737517
19 CFH NM_000186.3(CFH):c.-175T>C SNV Uncertain significance 294474 rs762143457 GRCh37: 1:196621073-196621073
GRCh38: 1:196651943-196651943
20 CFH NM_000186.3(CFH):c.3310+12T>C SNV Uncertain significance 294524 rs757045842 GRCh37: 1:196712770-196712770
GRCh38: 1:196743640-196743640
21 CFH NM_000186.4(CFH):c.2956+13G>A SNV Uncertain significance 874382 GRCh37: 1:196709935-196709935
GRCh38: 1:196740805-196740805
22 CFH NM_000186.3(CFH):c.3133+4C>G SNV Uncertain significance 598661 rs374729595 GRCh37: 1:196711185-196711185
GRCh38: 1:196742055-196742055
23 CFH NM_000186.4(CFH):c.3291G>A (p.Thr1097=) SNV Uncertain significance 874522 GRCh37: 1:196712739-196712739
GRCh38: 1:196743609-196743609
24 CFH NM_000186.4(CFH):c.245-15T>C SNV Uncertain significance 874979 GRCh37: 1:196642972-196642972
GRCh38: 1:196673842-196673842
25 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
26 CFH NM_000186.4(CFH):c.1418C>T (p.Ala473Val) SNV Uncertain significance 875087 GRCh37: 1:196682946-196682946
GRCh38: 1:196713816-196713816
27 CFH NM_000186.4(CFH):c.2314G>A (p.Asp772Asn) SNV Uncertain significance 874264 GRCh37: 1:196697553-196697553
GRCh38: 1:196728423-196728423
28 CFH NM_000186.4(CFH):c.2424A>G (p.Ile808Met) SNV Uncertain significance 875193 GRCh37: 1:196705964-196705964
GRCh38: 1:196736834-196736834
29 CFH NM_000186.4(CFH):c.2763T>C (p.Ser921=) SNV Uncertain significance 875243 GRCh37: 1:196706771-196706771
GRCh38: 1:196737641-196737641
30 CFH NM_000186.4(CFH):c.3134-5T>C SNV Uncertain significance 875337 GRCh37: 1:196712577-196712577
GRCh38: 1:196743447-196743447
31 CFH NM_000186.4(CFH):c.7C>G (p.Leu3Val) SNV Uncertain significance 875857 GRCh37: 1:196621254-196621254
GRCh38: 1:196652124-196652124
32 CFH NM_000186.4(CFH):c.879G>A (p.Gln293=) SNV Uncertain significance 875038 GRCh37: 1:196654282-196654282
GRCh38: 1:196685152-196685152
33 CFH NM_000186.4(CFH):c.907C>T (p.Arg303Trp) SNV Uncertain significance 875964 GRCh37: 1:196654310-196654310
GRCh38: 1:196685180-196685180
34 CFH NM_000186.4(CFH):c.1451C>T (p.Ala484Val) SNV Uncertain significance 876029 GRCh37: 1:196682979-196682979
GRCh38: 1:196713849-196713849
35 CFH NM_000186.4(CFH):c.1984A>G (p.Arg662Gly) SNV Uncertain significance 875133 GRCh37: 1:196695710-196695710
GRCh38: 1:196726580-196726580
36 CFH NM_000186.3(CFH):c.3028G>A (p.Ala1010Thr) SNV Uncertain significance 451521 rs11539862 GRCh37: 1:196711076-196711076
GRCh38: 1:196741946-196741946
37 CFH NM_000186.3(CFH):c.770G>A (p.Arg257His) SNV Uncertain significance 294487 rs140107330 GRCh37: 1:196648903-196648903
GRCh38: 1:196679773-196679773
38 CFH NM_000186.3(CFH):c.481G>T (p.Ala161Ser) SNV Uncertain significance 625915 rs777300338 GRCh37: 1:196646659-196646659
GRCh38: 1:196677529-196677529
39 CFH NM_000186.3(CFH):c.2461C>T (p.His821Tyr) SNV Uncertain significance 625916 rs367687415 GRCh37: 1:196706001-196706001
GRCh38: 1:196736871-196736871
40 CFH NM_000186.4(CFH):c.*127G>T SNV Uncertain significance 873579 GRCh37: 1:196716570-196716570
GRCh38: 1:196747440-196747440
41 CFH NM_000186.4(CFH):c.172T>G (p.Ser58Ala) SNV Uncertain significance 874052 GRCh37: 1:196642221-196642221
GRCh38: 1:196673091-196673091
42 CFH NM_000186.4(CFH):c.2278A>T (p.Ile760Leu) SNV Uncertain significance 874263 GRCh37: 1:196697517-196697517
GRCh38: 1:196728387-196728387
43 CFH NM_000186.4(CFH):c.2596+8G>T SNV Uncertain significance 876153 GRCh37: 1:196706144-196706144
GRCh38: 1:196737014-196737014
44 CFH NM_000186.4(CFH):c.2944C>T (p.Pro982Ser) SNV Uncertain significance 874381 GRCh37: 1:196709910-196709910
GRCh38: 1:196740780-196740780
45 CFH NM_000186.4(CFH):c.3156C>T (p.Pro1052=) SNV Uncertain significance 875390 GRCh37: 1:196712604-196712604
GRCh38: 1:196743474-196743474
46 CFH NM_000186.4(CFH):c.16A>G (p.Lys6Glu) SNV Uncertain significance 875858 GRCh37: 1:196621263-196621263
GRCh38: 1:196652133-196652133
47 CFH NM_000186.4(CFH):c.33G>T (p.Met11Ile) SNV Uncertain significance 876852 GRCh37: 1:196621280-196621280
GRCh38: 1:196652150-196652150
48 CFH NM_000186.3(CFH):c.2867C>T (p.Thr956Met) SNV Likely benign 294511 rs145975787 GRCh37: 1:196709833-196709833
GRCh38: 1:196740703-196740703
49 CFH NM_000186.3(CFH):c.2850G>T (p.Gln950His) SNV Likely benign 294510 rs149474608 GRCh37: 1:196709816-196709816
GRCh38: 1:196740686-196740686
50 CFH NM_000186.3(CFH):c.1949G>T (p.Gly650Val) SNV Likely benign 294497 rs143237092 GRCh37: 1:196695675-196695675
GRCh38: 1:196726545-196726545

UniProtKB/Swiss-Prot genetic disease variations for Macular Degeneration, Age-Related, 4:

72
# Symbol AA change Variation ID SNP ID
1 CFH p.Arg1210Cys VAR_025885 rs121913059

Expression for Macular Degeneration, Age-Related, 4

Search GEO for disease gene expression data for Macular Degeneration, Age-Related, 4.

Pathways for Macular Degeneration, Age-Related, 4

Pathways related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.61 CFH CFB

GO Terms for Macular Degeneration, Age-Related, 4

Biological processes related to Macular Degeneration, Age-Related, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 complement activation GO:0006956 8.96 CFH CFB
2 complement activation, alternative pathway GO:0006957 8.62 CFH CFB

Sources for Macular Degeneration, Age-Related, 4

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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