ARMS2

Summary

ARMS2 (age-related maculopathy susceptibility 2, HGNC:32685) is a protein-coding gene on chromosome 10q26.13, encoding Age-related maculopathy susceptibility protein 2 (P0C7Q2).

This gene encodes a small secreted protein specific to primates. This protein is a component of the choroidal extracellular matrix of the eye. Mutations in this gene are associated with age-related macular degeneration.

Source: NCBI Gene 387715 — RefSeq curated summary.

At a glance

• GWAS associations: 24
• Clinical variants (ClinVar): 33 total — 1 pathogenic
• MANE Select transcript: NM_001099667

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:32685
Approved symbol	ARMS2
Name	age-related maculopathy susceptibility 2
Location	10q26.13
Locus type	gene with protein product
Status	Approved
Aliases	LOC387715, ARMD8
Ensembl gene	ENSG00000254636
Ensembl biotype	protein_coding
OMIM	611313
Entrez	387715

Gene structure

Transcript identifiers

Ensembl transcripts: 1 — 1 protein_coding

ENST00000528446

RefSeq mRNA: 1 — MANE Select: NM_001099667 NM_001099667

CCDS: CCDS53585

Canonical transcript exons

ENST00000528446 — 2 exons

Exon	Start	End
ENSE00002173356	122456907	122457352
ENSE00002182701	122454653	122455024

Expression profiles

Bgee: expression breadth broad, 99 present calls, max score 61.46.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.0136 / max 8.4927, expressed in 5 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
107447	0.0136	5

Top tissues by expression

122 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	61.46	gold quality
placenta	UBERON:0001987	60.32	gold quality
left ovary	UBERON:0002119	57.55	gold quality
left testis	UBERON:0004533	57.27	gold quality
ovary	UBERON:0000992	56.37	gold quality
testis	UBERON:0000473	56.21	gold quality
right testis	UBERON:0004534	56.16	gold quality
right ovary	UBERON:0002118	54.57	gold quality
pituitary gland	UBERON:0000007	50.18	gold quality
smooth muscle tissue	UBERON:0001135	48.17	gold quality
adenohypophysis	UBERON:0002196	47.62	gold quality
right lobe of liver	UBERON:0001114	47.49	gold quality
left uterine tube	UBERON:0001303	47.31	gold quality
body of uterus	UBERON:0009853	46.58	gold quality
myometrium	UBERON:0001296	46.11	gold quality
muscle layer of sigmoid colon	UBERON:0035805	45.56	gold quality
lower esophagus	UBERON:0013473	45.01	gold quality
lower esophagus muscularis layer	UBERON:0035833	45.01	gold quality
omental fat pad	UBERON:0010414	44.89	gold quality
anterior cingulate cortex	UBERON:0009835	44.64	gold quality
esophagogastric junction muscularis propria	UBERON:0035841	44.43	gold quality
ascending aorta	UBERON:0001496	44.26	gold quality
popliteal artery	UBERON:0002250	44.14	gold quality
tibial artery	UBERON:0007610	44.10	gold quality
liver	UBERON:0002107	43.94	gold quality
thoracic aorta	UBERON:0001515	43.92	gold quality
adipose tissue	UBERON:0001013	43.72	gold quality
descending thoracic aorta	UBERON:0002345	43.23	gold quality
subcutaneous adipose tissue	UBERON:0002190	43.15	gold quality
saliva-secreting gland	UBERON:0001044	42.46	gold quality

Single-cell (SCXA)

Detected in 1 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-ANND-3	no	2.13

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

37 targeting ARMS2, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-12118	100.00	65.88	1270
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-6891-5P	99.98	66.53	1372
HSA-MIR-3173-3P	99.98	66.49	1217
HSA-MIR-8075	99.97	67.20	962
HSA-MIR-590-3P	99.96	74.34	6478
HSA-MIR-3119	99.92	71.34	2390
HSA-MIR-4779	99.86	66.50	1583
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-92A-2-5P	99.75	67.01	2164
HSA-MIR-4428	99.73	66.41	1733
HSA-MIR-1827	99.63	68.57	3265
HSA-MIR-1249-5P	99.61	66.55	2049
HSA-MIR-6797-5P	99.61	66.55	2084
HSA-MIR-4516	99.61	67.78	3390
HSA-MIR-940	99.37	66.14	2064
HSA-MIR-542-3P	99.34	67.58	1270
HSA-MIR-6808-5P	99.31	66.23	2150
HSA-MIR-6893-5P	99.31	66.25	2119
HSA-MIR-4477B	99.23	70.49	1733
HSA-MIR-296-3P	99.21	66.56	474
HSA-MIR-491-5P	99.13	65.98	1468
HSA-MIR-1253	99.12	67.08	1688
HSA-MIR-4434	99.10	67.01	1984
HSA-MIR-5703	99.10	67.09	2053
HSA-MIR-6829-5P	98.86	65.12	1480
HSA-MIR-4680-3P	98.64	68.60	2093
HSA-MIR-31-5P	98.58	68.35	1239
HSA-MIR-4266	98.53	67.29	1035
HSA-MIR-3138	98.41	67.53	744

Literature-anchored findings (GeneRIF, showing 40)

• Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk. (PMID:16174643)
• Our results strongly implicate a coding change (Ala69Ser) in the LOC387715 gene as the second major identified AMD-susceptibility allele, confirming earlier suggestions. This variant’s effect on AMD is statistically independent of CFH . (PMID:16642439)
• Results further support the notion that CFH (complement factor H) and LOC387715 genes are the major risk factors for ARMD. (PMID:16954704)
• study provides additional support for the CFH and LOC387715 genes in age-related maculopathy (ARM) susceptibility via the evaluation of cohorts that had different ascertainment schemes regarding ARM status and through the meta-analyses (PMID:17000705)
• A polymorphism of LOC387715 gene is associated with age-related macular degeneration in the Japanese population. (PMID:17194541)
• findings suggest that the combined effect of variants in the CFH and LOC 387715 genes may contribute to the age-related macular degeneration phenotype in this family (PMID:17285240)
• AMD (age-related macular degeneration) genetic risk marker harbored within LOC387715, the nested case-control data from the population-based BMES samples showed lower estimates than from the clinic-based samples. (PMID:17325155)
• The number of risk alleles at the LOC387715 SNP was associated with advanced Age-related macular degeneration (PMID:17347568)
• Combined effects for the LOC387715 genotypes with 3 inflammatory markers and PAI-1 on the risk of early or late age-related macular degeneration(AMD), and with current smoking on the risk of late AMD. (PMID:17675241)
• The LOC387715/HTRA1 variants are associated with polypoidal choroidal vasculopathy (PCV) and wet age-related macular degeneration (AMD) in the Japanese population. (PMID:17692272)
• Both ARMS2 polymorphism and complement factor H polymorphism are independently associated with progression of age-related macular degeneration. (PMID:17846368)
• SNP rs10490924 represents a major susceptibility variant for age-related macular degeneration. A likely biological mechanism is that the A69S change in the LOC387715/ARMS2 protein affects its presumptive function in mitochondria. (PMID:17884985)
• The Age-related macular degeneration associated complement factor H Y402H and LOC387715 A69S variants were associated with differences in choroidal neovascular lesion size in this study. (PMID:18054635)
• Although a role for PLEKHA1 could not be totally excluded, there was a four times higher age-related macular degeneration risk was associated with haplotype “A-T-A” involving “PLEKHA1-LOC387715-HTRA1” risk alleles. (PMID:18079691)
• CFH and ARMS2 haplotypes and smoking exerted large effects on AMD risk. CFH haplotypes conferred ORs from 1 to 4.17. Homozygotes for ARMS2 were at very high risk for AMD. Risk of wet AMD rose to 15.5% in 1/10 of the population with highest predicted risk. (PMID:18162041)
• Polymorphisms in the complement factor H gene, LOC387715, and the HTRA1 promoter are strongly associated with age-related macular degeneration. (PMID:18162041)
• The LOC387715 polymorphism is associated with polypoidal choroidal vasculopathy (PCV)and clinical severity in the subgroups of PCV in the Japanese population. (PMID:18400199)
• The findings of this study indicate that an individual’s response to age-related eye disease supplements may be related to complement factor H genotype. (PMID:18423869)
• The present data provided an independent validation of the association of LOC387715 and HTRA1 SNPs, along with their risk estimates among Indian patients with AMD. (PMID:18436811)
• our results showed that in Spanish patients with AMD the associations of both polymorphisms are not equal: Y402H is associated with early and wet AMD, whereas A69S is associated only with wet AMD. (PMID:18452766)
• Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA. (PMID:18511946)
• a deletion-insertion polymorphism in ARMS2 is strongly associated with AMD, directly affecting the transcript by removing the polyadenylation signal and inserting a 54-bp element known to mediate rapid mRNA turnover. (PMID:18511946)
• Both the HTRA1 and LOC387715/ARMS2 single nucleotide polymorphysms appear to contribute equally to disease risk (both geographic atrophy and choroidal neovascularization) with no evidence of interaction with CFH. (PMID:18682806)
• The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNPs) in CFH, LOC387715, and HTRA1 with exudative age-related macular degeneration in a northern Chinese population. (PMID:18682812)
• The LOC387715/ARMS2 gene is expressed in the human brain, and it may concur to the individual risk for Alzheimer’s disease (PMID:18688167)
• We did not find a positive association in high myopia. Based on these results, neither the Y402H nor the A69S single nucleotide polymorphisms seem to be involved in the choroid neovascularization process in high myopia patients. (PMID:18762075)
• A tentative gene-gene interaction between the two major age-related macular degeneration-associated loci, LOC387715 and complement factor H, was found in this study. (PMID:19048105)
• The rs10490924 Single nucleotide polymorphisms (SNP) in LOC387715/ARMS2 and the rs11200638 SNP in HTRA1 are strongly associated with neovascular age-related macular degeneration in this Israeli population. (PMID:19065273)
• ARMS2 was mainly distributed in the cytosol, not in the mitochondrial outer membrane as previously reported (PMID:19255159)
• Data show that SNP rs10490924 on chromosome 10 in exon 1 of the ARMS2 gene has highly significant association with an odds ratio of 3.2 for the risk allele with AMD cases. (PMID:19259132)
• Both HTRA1 SNPs are significantly associated with exudative age-related macular degeneration(AMD) in Chinese cohort and seem to contribute equally to disease status. (PMID:19491722)
• The replication of the reported associations of CFH T1277C polymorphism with age-related macular degeneration (AMD) suggest that the 1277C allele could serve as a high-risk genetic marker for the disease. (PMID:19568762)
• three AMD-associated SNPs (rs10490924 (A69S) of ARMS2/LOC387715, rs11200638 of HTRA1, and rs1061170 (Y402H) of CFH)do not contribute significantly to the development of choroidal neovascularization in highly myopic eyes of the elderly Japanese. (PMID:19680273)
• Several polymorphisms examined in the LOC387715/ARMS2/HTRA1 locus, but none in the CFH region, correlated with specific phenotypic attributes of AMD. (PMID:19796758)
• The findings indicate that age-related maculopathy (AMD) progression is differentially affected by genotypic variants. (PMID:19797206)
• To our knowledge, this is the first confirmation of the association of del443ins54 in Italian patients with age-related macular degeneration, and we also confirmed the association of Tyr402His with CFH. (PMID:19822855)
• variants at CFH, C3, and ARMS2 confer significant risks for geographic atrophy due to age-related macular degeneration (PMID:19823576)
• The CFH, LOC387715 and HTRA1 polymorphisms are strongly associated with the development of age-related macular degeneration in the Hungarian population (PMID:19845562)
• The LOC387715 A69S genotype is not associated with lesion composition or size on indocyanine green angiography but with lesion size on fluorescein angiography in patients with subfoveal polypoidal choroidal vasculopathy. (PMID:19898184)
• These findings provide the first evidence suggesting that ARMS2 interacts with hormone replacement therapy to modulate age-related macular degeneration (AMD) risk and are consistent with previous reports. (PMID:19933179)

Cross-species orthologs

0 orthologs

Protein

Protein identifiers

Age-related maculopathy susceptibility protein 2 — P0C7Q2 (reviewed: P0C7Q2)

All UniProt accessions (1): P0C7Q2

UniProt curated annotations — full annotation on UniProt →

Subcellular location. Cytoplasm.

Tissue specificity. Detected in retina and placenta.

Disease relevance. Macular degeneration, age-related, 8 (ARMD8) [MIM:613778] 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. Disease susceptibility is associated with variants affecting the gene represented in this entry.

RefSeq proteins (1): NP_001093137* (*=MANE)

Domains & families (InterPro)

UniProt features (4 total): sequence variant 2, chain 1, region of interest 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-P0C7Q2-F1	58.14	0.00

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 14 (showing top): GOBP_MULTICELLULAR_ORGANISMAL_LEVEL_HOMEOSTASIS, GOBP_RETINA_HOMEOSTASIS, GOBP_HOMEOSTATIC_PROCESS, GOCC_PHOTORECEPTOR_INNER_SEGMENT, MIR7856_5P, MIR3119, MIR4680_3P, MIR4428, MIR8075, MIR6888_5P, GOBP_TISSUE_HOMEOSTASIS, KONIGORSKI_INCREASED_SUBCUTANEOUS_ADIPOSE_TISSUE_MASS_UP, chr10q26, GOCC_MITOCHONDRION

GO Biological Process (1): retina homeostasis (GO:0001895)

GO Molecular Function (1): protein binding (GO:0005515)

GO Cellular Component (3): photoreceptor inner segment (GO:0001917), mitochondrion (GO:0005739), cytoplasm (GO:0005737)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
cellular anatomical structure	2
tissue homeostasis	1
binding	1
cytoplasm	1
intracellular membrane-bounded organelle	1
intracellular anatomical structure	1

Protein interactions and networks

STRING

424 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
ARMS2	CFH	P08603	953
ARMS2	PLEKHA1	Q9HB21	915
ARMS2	CFB	P00751	817
ARMS2	HMCN1	Q96RW7	800
ARMS2	HTRA1	Q92743	781
ARMS2	C2	P06681	765
ARMS2	LIPC	P11150	720
ARMS2	CETP	P11597	697
ARMS2	CFI	P05156	668
ARMS2	SLC16A8	O95907	648
ARMS2	CFHR1	Q03591	625
ARMS2	CFHR3	Q02985	624
ARMS2	C3	P01024	621
ARMS2	B3GLCT	Q6Y288	620
ARMS2	SKIC2	Q15477	601

IntAct

31 interactions, top by confidence:

A	B	Type	Score
CFP	ARMS2	psi-mi:“MI:0407”(direct interaction)	0.660
ARMS2	CFP	psi-mi:“MI:0915”(physical association)	0.660
CFP	ARMS2	psi-mi:“MI:0403”(colocalization)	0.660
CFP	ARMS2	psi-mi:“MI:0915”(physical association)	0.660
HMCN1	ARMS2	psi-mi:“MI:0915”(physical association)	0.580
ARMS2	HMCN1	psi-mi:“MI:0915”(physical association)	0.580
	ARMS2	psi-mi:“MI:0407”(direct interaction)	0.540
	ARMS2	psi-mi:“MI:0915”(physical association)	0.540
COL1A1	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
COL4A2	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
EMILIN2	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
FN1	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
FBLN1	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
PSG9	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
PSG11	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
METTL27	ARMS2	psi-mi:“MI:0915”(physical association)	0.370
ARMS2	PRKCA	psi-mi:“MI:0914”(association)	0.350

BioGRID (6): MICAL1 (Affinity Capture-MS), ANXA13 (Affinity Capture-MS), PRKCA (Affinity Capture-MS), OGDHL (Affinity Capture-MS), EEF1A2 (Affinity Capture-MS), EFR3A (Affinity Capture-MS)

ESM2 similar proteins: A0A096LPI5, A0A0A0MT76, A4D1N5, A6NM66, A8MUN3, B1ANH7, F5HDA4, O76042, P03414, P04219, P06831, P0C092, P0C5K7, P0C7Q2, P15099, P37125, P37200, P49671, Q1W209, Q21QM3, Q2M3A8, Q4G0G2, Q5T0J3, Q5T6R2, Q5T742, Q5TEZ4, Q5VSD8, Q5W150, Q6UXP9, Q6W349, Q6ZP68, Q6ZS52, Q6ZSR6, Q6ZV60, Q6ZVU0, Q8IWL8, Q8N6C7, Q8N814, Q8TCH9, Q8TEV8

SIGNOR signaling

0 interactions.

Disease & clinical

Clinical variants and AI predictions

ClinVar

33 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	19
Likely benign	5
Benign	2

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
1801372	NM_002775.5(HTRA1):c.175_178del (p.Arg59fs)	Pathogenic

SpliceAI

98 predictions. Top by Δscore:

Variant	Effect	Δscore
10:122456905:A:AG	acceptor_gain	1.0000
10:122456906:G:GG	acceptor_gain	1.0000
10:122456906:GT:G	acceptor_gain	0.9900
10:122456906:GTC:G	acceptor_gain	0.9900
10:122456906:GTCT:G	acceptor_gain	0.9900
10:122455022:CTGG:C	donor_loss	0.9800
10:122455023:TGGTA:T	donor_loss	0.9800
10:122455024:GGTAA:G	donor_loss	0.9800
10:122455025:GTAA:G	donor_loss	0.9800
10:122455026:T:G	donor_loss	0.9800
10:122456906:GTCTA:G	acceptor_gain	0.9800
10:122454991:G:GT	donor_gain	0.9700
10:122455025:G:GG	donor_gain	0.9600
10:122456905:AGTCT:A	acceptor_loss	0.9600
10:122456906:G:GT	acceptor_loss	0.9600
10:122455022:CTG:C	donor_gain	0.9200
10:122456901:TTTCA:T	acceptor_gain	0.9200
10:122456902:TTCAG:T	acceptor_gain	0.9200
10:122456903:TCAGT:T	acceptor_gain	0.9200
10:122456904:CAGTC:C	acceptor_gain	0.9200
10:122456905:A:T	acceptor_gain	0.9200
10:122456906:G:T	acceptor_gain	0.9100
10:122455020:CACTG:C	donor_gain	0.8600
10:122456911:T:G	acceptor_gain	0.8500
10:122454759:C:G	donor_gain	0.8400
10:122455021:ACTG:A	donor_gain	0.8300
10:122455027:AA:A	donor_loss	0.8200
10:122455023:TG:T	donor_gain	0.8000
10:122455024:GG:G	donor_gain	0.8000
10:122455959:A:T	donor_gain	0.7600

AlphaMissense

677 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:122454824:T:C	F33L	0.901
10:122454826:C:A	F33L	0.901
10:122454826:C:G	F33L	0.901
10:122454924:T:C	I66T	0.832
10:122454965:T:C	F80L	0.782
10:122454967:C:A	F80L	0.782
10:122454967:C:G	F80L	0.782
10:122456930:G:C	R107S	0.764
10:122456930:G:T	R107S	0.764
10:122454968:T:C	F81L	0.744
10:122454970:C:A	F81L	0.744
10:122454970:C:G	F81L	0.744
10:122454924:T:G	I66S	0.700
10:122456929:G:T	R107M	0.673
10:122456911:T:C	I101T	0.657
10:122456911:T:G	I101S	0.616
10:122454825:T:C	F33S	0.611
10:122456911:T:A	I101N	0.599
10:122456929:G:C	R107T	0.583
10:122456920:C:T	T104I	0.568

dbSNP variants (sampled 300 via entrez): RS1001665931 (10:122453300 C>T), RS1001846246 (10:122456811 T>A), RS1001905146 (10:122457059 T>C,G), RS1001941084 (10:122456487 T>G), RS1002517059 (10:122453885 G>C), RS1003106300 (10:122456081 CTAAAT>C), RS1003135799 (10:122456391 C>T), RS1004225872 (10:122452654 T>C,G), RS1006352162 (10:122457124 A>G), RS1006832981 (10:122457474 G>T), RS1007018610 (10:122454520 C>T), RS1008533830 (10:122452822 A>G), RS1008662762 (10:122452834 G>T), RS1008693824 (10:122453174 G>A,T), RS1009266628 (10:122456458 C>A,T)

Disease associations

OMIM: gene MIM:611313 | disease phenotypes: MIM:616779, MIM:613778

GenCC curated gene-disease

Mondo (2): cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 (MONDO:0014768), age related macular degeneration 8 (MONDO:0013416)

Orphanet (0):

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

24 associations (top):

Study	Trait	p-value
GCST000652_7	Age-related macular degeneration	4.000000e-60
GCST000653_9	Age-related macular degeneration	5.000000e-119
GCST000806_2	Age-related macular degeneration	1.000000e-60
GCST001571_1	Age-related macular degeneration	3.000000e-72
GCST001577_1	Age-related macular degeneration (CNV vs. GA)	7.000000e-14
GCST001578_6	Age-related macular degeneration (geographic atrophy)	7.000000e-47
GCST001579_6	Age-related macular degeneration (choroidal neovascularisation)	2.000000e-138
GCST001814_1	Age-related macular degeneration	4.000000e-24
GCST001814_29	Age-related macular degeneration	1.000000e-25
GCST001884_11	Age-related macular degeneration	0.000000e+00
GCST001899_2	Age-related macular degeneration	1.000000e-16
GCST001986_3	Age-related macular degeneration	8.000000e-27
GCST001987_1	Age-related macular degeneration (extreme sampling)	3.000000e-29
GCST002766_5	Exudative age-related macular degeneration	1.000000e-103
GCST003219_4	Advanced age-related macular degeneration	0.000000e+00
GCST003720_10	Migraine	3.000000e-08
GCST004737_2	Neovascular age-related macular degeneration	7.000000e-17
GCST004813_2	Laterality in neovascular age-related macular degeneration	2.000000e-09
GCST005358_4	Disease progression to choroidal neovascularization form in age-related macular degeneration	1.000000e-25
GCST005359_1	Disease progression in age-related macular degeneration	8.000000e-43
GCST005360_2	Disease progression to geographic atrophy form in age-related macular degeneration	1.000000e-25
GCST010002_227	Refractive error	6.000000e-23
GCST010723_8	Early age-related macular degeneration	1.000000e-116
GCST011317_2	Age-related macular degeneration	2.000000e-20

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:1001492	atrophic macular degeneration
EFO:0008372	laterality measurement
EFO:0008336	disease progression measurement

Drugs & pharmacology

Drug and pharmacology data

Is drug target: no

PharmGKB: 1 entry (VIP=true, CPIC=false)

PharmGKB clinical annotations

1 annotations.

Variant	Type	Level	Drugs	Phenotypes
rs10490924	Efficacy	3	bevacizumab	Macular Degeneration

PharmGKB variants

1 variants.

Variant	Genes	Level	Score	#Clin annots	Drugs
rs10490924	ARMS2	3	4.25	1	bevacizumab

CTD chemical–gene interactions

5 total (human), top 5 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
aristolochic acid I	increases expression	1
Grape Seed Proanthocyanidins	affects cotreatment, decreases expression	1
Benzo(a)pyrene	increases methylation	1
Catechin	affects cotreatment, decreases expression	1
Rotenone	increases expression	1

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.