PedAM

Pediatric Disease Annotations & Medicines


	exfoliation syndrome

Disease ID	501
Disease	exfoliation syndrome
Definition	The deposition of flaky, translucent fibrillar material most conspicuous on the anterior lens capsule and pupillary margin but also in both surfaces of the iris, the zonules, trabecular meshwork, ciliary body, corneal endothelium, and orbital blood vessels. It sometimes forms a membrane on the anterior iris surface. Exfoliation refers to the shedding of pigment by the iris. (Newell, Ophthalmology, 7th ed, p380)
Synonym	exfoliation glaucoma exfoliation syndrome [disease/finding] exfoliation syndromes exfoliative syndrome exfoliative syndromes glaucoma capsulare pexg pexs pseudo exfoliation syndrome pseudo-exfoliation syndrome pseudo-exfoliation syndromes pseudoexfoliat glaucoma pseudoexfoliation glaucoma pseudoexfoliation glaucoma (disorder) pseudoexfoliation of the lens pseudoexfoliation syndrome pseudoexfoliation syndromes secondary open-angle glaucoma with pseudoexfoliation syndrome, exfoliation syndrome, exfoliative syndrome, pseudo-exfoliation syndrome, pseudoexfoliation syndromes, exfoliation syndromes, exfoliative syndromes, pseudo-exfoliation syndromes, pseudoexfoliation xfg xfs
OMIM	OMIM:177650
DOID	DOID:13641
UMLS	C0206368
MeSH	D017889
SNOMED-CT	SNOMEDCT_US_2016_09_01:111514006
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:18) C0017601 \| glaucoma \| 5 C0086543 \| cataract \| 3 C0235270 \| keratopathy \| 2 C0042373 \| vascular disease \| 1 C0086543 \| cataracts \| 1 C0017612 \| open angle glaucoma \| 1 C0024796 \| marfan syndrome \| 1 C0497327 \| dementia \| 1 C0339573 \| primary open-angle glaucoma \| 1 C0152257 \| mature cataract \| 1 C0036646 \| senile cataract \| 1 C0022661 \| chronic kidney disease \| 1 C0017612 \| open-angle glaucoma \| 1 C0018799 \| heart disease \| 1 C0155111 \| bullous keratopathy \| 1 C0151744 \| ischaemic heart disease \| 1 C0018784 \| sensorineural hearing loss \| 1 C0010068 \| coronary artery disease \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:4) CACNA1A \| 773 \| CTD_human;GWASCAT LTBP2 \| 4053 \| CLINVAR LOXL1 \| 4016 \| CTD_human;GWASCAT TBC1D21 \| 161514 \| GWASCAT
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:6) 1636 \| ACE \| infer 348 \| APOE \| infer 1137 \| CHRNA4 \| infer 1191 \| CLU \| infer 4016 \| LOXL1 \| infer 6648 \| SOD2 \| infer
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:108) 100048912 \| CDKN2B-AS1 \| DISEASES 4257 \| MGST1 \| DISEASES 4653 \| MYOC \| DISEASES 368 \| ABCC6 \| DISEASES 7049 \| TGFBR3 \| DISEASES 7076 \| TIMP1 \| DISEASES 4313 \| MMP2 \| DISEASES 7040 \| TGFB1 \| DISEASES 7448 \| VTN \| DISEASES 4015 \| LOX \| DISEASES 2703 \| GJA8 \| DISEASES 6626 \| SNRPA \| DISEASES 6495 \| SIX1 \| DISEASES 2678 \| GGT1 \| DISEASES 2952 \| GSTT1 \| DISEASES 9526 \| MPDU1 \| DISEASES 2006 \| ELN \| DISEASES 348 \| APOE \| DISEASES 2161 \| F12 \| DISEASES 6538 \| SLC6A11 \| DISEASES 1545 \| CYP1B1 \| DISEASES 4016 \| LOXL1 \| DISEASES 4053 \| LTBP2 \| DISEASES 3249 \| HPN \| DISEASES 7077 \| TIMP2 \| DISEASES 10133 \| OPTN \| DISEASES 55850 \| USE1 \| DISEASES 1462 \| VCAN \| DISEASES 396 \| ARHGDIA \| DISEASES 1824 \| DSC2 \| DISEASES 7079 \| TIMP4 \| DISEASES 1409 \| CRYAA \| DISEASES 216 \| ALDH1A1 \| DISEASES 282974 \| STK32C \| DISEASES 161514 \| TBC1D21 \| DISEASES 30008 \| EFEMP2 \| DISEASES 219902 \| TMEM136 \| DISEASES 1191 \| CLU \| DISEASES 80207 \| OPA3 \| DISEASES 10938 \| EHD1 \| DISEASES 8818 \| DPM2 \| DISEASES 4312 \| MMP1 \| DISEASES 3909 \| LAMA3 \| DISEASES 2200 \| FBN1 \| DISEASES 4990 \| SIX6 \| DISEASES 25834 \| MGAT4C \| DISEASES 1209 \| CLPTM1 \| DISEASES 10554 \| AGPAT1 \| DISEASES 64778 \| FNDC3B \| DISEASES 6540 \| SLC6A13 \| DISEASES 81551 \| STMN4 \| DISEASES 10979 \| FERMT2 \| DISEASES 5170 \| PDPK1 \| DISEASES 875 \| CBS \| DISEASES 9672 \| SDC3 \| DISEASES 10516 \| FBLN5 \| DISEASES 347 \| APOD \| DISEASES 57556 \| SEMA6A \| DISEASES 54899 \| PXK \| DISEASES 55102 \| ATG2B \| DISEASES 773 \| CACNA1A \| DISEASES 26047 \| CNTNAP2 \| DISEASES 4536 \| MT-ND2 \| DISEASES 56259 \| CTNNBL1 \| DISEASES 4509 \| MT-ATP8 \| DISEASES 7052 \| TGM2 \| DISEASES 7042 \| TGFB2 \| DISEASES 6648 \| SOD2 \| DISEASES 252839 \| TMEM9 \| DISEASES 1490 \| CTGF \| DISEASES 5824 \| PEX19 \| DISEASES 93183 \| PIGM \| DISEASES 26227 \| PHGDH \| DISEASES 8266 \| UBL4A \| DISEASES 5309 \| PITX3 \| DISEASES 4318 \| MMP9 \| DISEASES 154467 \| CCDC167 \| DISEASES 6572 \| SLC18A3 \| DISEASES 11240 \| PADI2 \| DISEASES 4237 \| MFAP2 \| DISEASES 4524 \| MTHFR \| DISEASES 6311 \| ATXN2 \| DISEASES 5251 \| PHEX \| DISEASES 1906 \| EDN1 \| DISEASES 2762 \| GMDS \| DISEASES 2296 \| FOXC1 \| DISEASES 169792 \| GLIS3 \| DISEASES 10457 \| GPNMB \| DISEASES 60312 \| AFAP1 \| DISEASES 27303 \| RBMS3 \| DISEASES 7306 \| TYRP1 \| DISEASES 4017 \| LOXL2 \| DISEASES 1130 \| LYST \| DISEASES 55054 \| ATG16L1 \| DISEASES 23365 \| ARHGEF12 \| DISEASES 10587 \| TXNRD2 \| DISEASES 2199 \| FBLN2 \| DISEASES 728441 \| GGT2 \| DISEASES 3778 \| KCNMA1 \| DISEASES 4052 \| LTBP1 \| DISEASES 9278 \| ZBTB22 \| DISEASES 8522 \| GAS7 \| DISEASES 134430 \| WDR36 \| DISEASES 4522 \| MTHFD1 \| DISEASES 11217 \| AKAP2 \| DISEASES 54749 \| EPDR1 \| DISEASES 4782 \| NFIC \| DISEASES 100287616 \| LOXL1-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	501
Disease	exfoliation syndrome
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:9) HP:0000518 \| Cataract \| 4 HP:0000501 \| Glaucoma \| 4 HP:0001083 \| Dislocated lenses \| 2 HP:0012622 \| Chronic kidney disease \| 1 HP:0011499 \| Mydriasis \| 1 HP:0000726 \| Dementia \| 1 HP:0002617 \| Aneurysmal dilatation \| 1 HP:0000407 \| sensorineural hearing loss \| 1 HP:0001677 \| Coronary artery disease \| 1

Disease ID	501
Disease	exfoliation syndrome
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:2) C0021888 \| intraocular pressure \| 5 C0017601 \| glaucoma \| 4

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:21)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs1048661	21510775	4016	LOXL1	umls:C0206368	BeFree	The regions of the LOXL1 gene associated with pseudoexfoliation glaucoma, encompassing the three common SNPs, (rs1048661, rs3825942 and rs2165241), were sequenced in a Saudi Arabian dataset consisting of 96 POAG cases and 101 healthy controls.	0.334966027	2012	LOXL1;LOXL1-AS1	15	73927205	G	T
rs1048661	21559813	4016	LOXL1	umls:C0206368	BeFree	Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD.	0.334966027	2011	LOXL1;LOXL1-AS1	15	73927205	G	T
rs1048661	20142848	4016	LOXL1	umls:C0206368	BeFree	Allele and genotype frequencies of SNPs rs1048661, rs2165241, and rs3825942 were extracted for analysis in Reviewer Manager: (1) comparison of the allelic distributions between XFS and XFG, (2) allelic association of LOXL1 SNPs with XFS/XFG, (3) associations in homozygote, heterozygote, and dominant and recessive models, and (4) allelic association with primary open angle glaucoma (POAG).	0.334966027	2010	LOXL1;LOXL1-AS1	15	73927205	G	T
rs1048661	18483563	2006	ELN	umls:C0206368	BeFree	Recently, two non-synonymous polymorphisms (rs1048661 G>T and rs3825942 G>A) of lysyl oxidase-like protein 1 (LOXL1), a monoamine oxidase that catalyzes the polymerization of tropoelastin to elastin, were found to be associated with increased risk for XFS and exfoliation glaucoma (XFG).	0.001900093	2008	LOXL1;LOXL1-AS1	15	73927205	G	T
rs137854859	NA	4053	LTBP2	umls:C0206368	CLINVAR	NA	0.122909916	NA	LTBP2	14	74529111	T	G
rs137854861	NA	4053	LTBP2	umls:C0206368	CLINVAR	NA	0.122909916	NA	LTBP2	14	74552291	G	A
rs137854864	NA	4053	LTBP2	umls:C0206368	CLINVAR	NA	0.122909916	NA	LTBP2	14	74503490	T	C
rs16958445	24938310	161514	TBC1D21	umls:C0206368	GWASCAT	Moreover, further analyses revealed a unique haplotype structure only from the combination of TBC1D21 and LOXL1 variants showing a high XFS/XFG susceptibility specific for the Asian population.	0.120271442	2014	TBC1D21	15	73884216	G	A
rs1800629	19279689	7124	TNF	umls:C0206368	BeFree	The purpose of the present study was to investigate a hypothesized association between two common functional polymorphisms in the promoter region of the TNF-alpha gene (TNF-alpha -308 G>A, rs1800629, and TNF-alpha -238 G>A, rs361525) and the presence of XFG in a Caucasian population.	0.003452799	2009	TNF	6	31575254	G	A
rs2165241	21559813	4016	LOXL1	umls:C0206368	BeFree	Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD.	0.334966027	2011	LOXL1;LOXL1-AS1	15	73929861	T	C
rs2165241	20142848	4016	LOXL1	umls:C0206368	BeFree	Allele and genotype frequencies of SNPs rs1048661, rs2165241, and rs3825942 were extracted for analysis in Reviewer Manager: (1) comparison of the allelic distributions between XFS and XFG, (2) allelic association of LOXL1 SNPs with XFS/XFG, (3) associations in homozygote, heterozygote, and dominant and recessive models, and (4) allelic association with primary open angle glaucoma (POAG).	0.334966027	2010	LOXL1;LOXL1-AS1	15	73929861	T	C
rs2165241	21510775	4016	LOXL1	umls:C0206368	BeFree	The regions of the LOXL1 gene associated with pseudoexfoliation glaucoma, encompassing the three common SNPs, (rs1048661, rs3825942 and rs2165241), were sequenced in a Saudi Arabian dataset consisting of 96 POAG cases and 101 healthy controls.	0.334966027	2012	LOXL1;LOXL1-AS1	15	73929861	T	C
rs361525	19279689	7124	TNF	umls:C0206368	BeFree	The purpose of the present study was to investigate a hypothesized association between two common functional polymorphisms in the promoter region of the TNF-alpha gene (TNF-alpha -308 G>A, rs1800629, and TNF-alpha -238 G>A, rs361525) and the presence of XFG in a Caucasian population.	0.003452799	2009	TNF	6	31575324	G	A
rs3825942	20142848	4016	LOXL1	umls:C0206368	BeFree	Allele and genotype frequencies of SNPs rs1048661, rs2165241, and rs3825942 were extracted for analysis in Reviewer Manager: (1) comparison of the allelic distributions between XFS and XFG, (2) allelic association of LOXL1 SNPs with XFS/XFG, (3) associations in homozygote, heterozygote, and dominant and recessive models, and (4) allelic association with primary open angle glaucoma (POAG).	0.334966027	2010	LOXL1;LOXL1-AS1	15	73927241	G	A
rs3825942	21510775	4016	LOXL1	umls:C0206368	BeFree	The regions of the LOXL1 gene associated with pseudoexfoliation glaucoma, encompassing the three common SNPs, (rs1048661, rs3825942 and rs2165241), were sequenced in a Saudi Arabian dataset consisting of 96 POAG cases and 101 healthy controls.	0.334966027	2012	LOXL1;LOXL1-AS1	15	73927241	G	A
rs3825942	18483563	2006	ELN	umls:C0206368	BeFree	Recently, two non-synonymous polymorphisms (rs1048661 G>T and rs3825942 G>A) of lysyl oxidase-like protein 1 (LOXL1), a monoamine oxidase that catalyzes the polymerization of tropoelastin to elastin, were found to be associated with increased risk for XFS and exfoliation glaucoma (XFG).	0.001900093	2008	LOXL1;LOXL1-AS1	15	73927241	G	A
rs3825942	21559813	4016	LOXL1	umls:C0206368	BeFree	Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD.	0.334966027	2011	LOXL1;LOXL1-AS1	15	73927241	G	A
rs41435250	24068861	4016	LOXL1	umls:C0206368	BeFree	The T allele of lysyl oxidase-like 1 rs41435250 is a novel risk factor for pseudoexfoliation syndrome and pseudoexfoliation glaucoma independently and through intragenic epistatic interaction.	0.334966027	2013	LOXL1;LOXL1-AS1	15	73927743	G	T
rs4886776	25706626	4016	LOXL1	umls:C0206368	GWASCAT	Our findings represent the first genetic locus outside of LOXL1 surpassing genome-wide significance for XFS and provide insight into the biology and pathogenesis of the disease.	0.334966027	2015	LOXL1	15	73932655	G	A
rs4926244	25706626	773	CACNA1A	umls:C0206368	GWASCAT	A common variant mapping to CACNA1A is associated with susceptibility to exfoliation syndrome.	0.240271442	2015	CACNA1A	19	13264099	T	C
rs893818	24938310	4016	LOXL1	umls:C0206368	GWASCAT	Moreover, further analyses revealed a unique haplotype structure only from the combination of TBC1D21 and LOXL1 variants showing a high XFS/XFG susceptibility specific for the Asian population.	0.334966027	2014	LOXL1	15	73936854	G	A

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:43)
CHR	POS	SNPID	REF	ALT	ORI_SNPID	PMID	P_VALUE	P_VALUE_TEXT	OR/BETA	CI95_TEXT	GWAS_INITIAL_SAMPLE_SIZE	SUB_POPULATION	SUPER_POPULATION	GWAS_TRAIT	HPO_ID	HPO_TERM	DO_ID	DO_TERM	MESH_ID	MESH_TERM	EFO_ID	EFO_TERM	DOLITE_TERM	RISK_ALLELE	PUBLICATION_TYPE	AA	GENE_SYMBOL	TYPE	REFGENE
1	103422730	rs3102053	T	C	rs3102053	20808326	3.00E-04	Pseudoexfoliation syndrome	NA	NA	160 German cases; 80 German subjects	German(240)	ALL(240)	EUR(240)	ALL(240)	Pseudoexfoliation syndrome	HPOID:0000478	Abnormality of the eye	DOID:13641	exfoliation syndrome	NA	NA	NA	NA	Eye disease	Glaucoma	NA	Research Support, Non-U.S. Gov't	C
1	110814129	rs4839282	T	A	rs4839282	20808326	3.00E-04	Pseudoexfoliation syndrome	NA	NA	160 German cases; 80 German subjects	German(240)	ALL(240)	EUR(240)	ALL(240)	Pseudoexfoliation syndrome	HPOID:0000478	Abnormality of the eye	DOID:13641	exfoliation syndrome	NA	NA	NA	NA	Eye disease	Glaucoma	NA	Research Support, Non-U.S. Gov't	A
1	110815623	rs6682717	G	C	rs6682717	20808326	3.00E-04	Pseudoexfoliation syndrome	NA	NA	160 German cases; 80 German subjects	German(240)	ALL(240)	EUR(240)	ALL(240)	Pseudoexfoliation syndrome	HPOID:0000478	Abnormality of the eye	DOID:13641	exfoliation syndrome	NA	NA	NA	NA	Eye disease	Glaucoma	NA	Research Support, Non-U.S. Gov't	C
7	147188685	rs2107856	G	T	rs2107856	20808326	3.00E-04	Pseudoexfoliation syndrome	NA	NA	160 German cases; 80 German subjects	German(240)	ALL(240)	EUR(240)	ALL(240)	Pseudoexfoliation syndrome	HPOID:0000478	Abnormality of the eye	DOID:13641	exfoliation syndrome	NA	NA	NA	NA	Eye disease	Glaucoma	NA	Research Support, Non-U.S. Gov't	A
7	147189740	rs2141388	C	T	rs2141388	20808326	2.00E-04	Pseudoexfoliation syndrome	NA	NA	160 German cases; 80 German subjects	German(240)	ALL(240)	EUR(240)	ALL(240)	Pseudoexfoliation syndrome	HPOID:0000478	Abnormality of the eye	DOID:13641	exfoliation syndrome	NA	NA	NA	NA	Eye disease	Glaucoma	NA	Research Support, Non-U.S. Gov't	T
15	74077167	rs7169729	A	G	rs7169729	24938310	3.56E-06	NA	1.54	[1.28-1.85]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs7169729-G	Research Support, Non-U.S. Gov't	A	NA
15	74080674	rs17773784	T	C	rs17773784	24938310	3.24E-10	NA	2.41	[1.82-3.19]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs17773784-A	Research Support, Non-U.S. Gov't	C	NA
15	74106813	rs1471439	T	A	rs1471439	24938310	2.52E-10	NA	1.92	[1.57-2.36]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1471439-A	Research Support, Non-U.S. Gov't	T	NA
15	74107677	rs746655	A	G	rs746655	24938310	1.07E-11	NA	2.74	[2.03-3.70]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs746655-G	Research Support, Non-U.S. Gov't	C	NA
15	74110996	rs4886416	T	C	rs4886416	24938310	2.97E-21	NA	2.62	[2.14-3.22]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4886416-G	Research Support, Non-U.S. Gov't	T	NA
15	74114969	rs999743	A	T	rs999743	24938310	2.62E-13	NA	2.71	[2.06-3.57]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs999743-A	Research Support, Non-U.S. Gov't	T	NA
15	74115517	rs999742	G	A	rs999742	24938310	2.20E-21	NA	2.63	[2.15-3.23]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs999742-T	Research Support, Non-U.S. Gov't	G	NA
15	74124543	rs4886425	A	G	rs4886425	24938310	7.62E-13	NA	2.66	[2.02-3.51]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4886425-G	Research Support, Non-U.S. Gov't	A	NA
15	74125955	rs10519015	T	C	rs10519015	24938310	4.56E-13	NA	3	[2.21-4.09]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs10519015-C	Research Support, Non-U.S. Gov't	C	NA
15	74138822	rs1452389	T	C	rs1452389	24938310	5.97E-14	NA	2.73	[2.08-3.58]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1452389-G	Research Support, Non-U.S. Gov't	A	NA
15	74139078	rs1452388	G	A	rs1452388	24938310	5.68E-13	NA	2.89	[2.15-3.90]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1452388-A	Research Support, Non-U.S. Gov't	C	NA
15	74139690	rs16958382	A	G	rs16958382	24938310	8.90E-12	NA	2.93	[2.13-4.04]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs16958382-T	Research Support, Non-U.S. Gov't	A	NA
15	74147978	rs11637249	T	C	rs11637249	24938310	9.77E-24	NA	4.08	[3.05-5.45]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs11637249-T	Research Support, Non-U.S. Gov't	C	NA
15	74149587	rs4338750	A	G	rs4338750	24938310	5.03E-20	NA	3.83	[2.83-5.19]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4338750-T	Research Support, Non-U.S. Gov't	G	NA
15	74153256	rs16958390	T	C	rs16958390	24938310	5.04E-12	NA	2.97	[2.15-4.09]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs16958390-T	Research Support, Non-U.S. Gov't	C	NA
15	74160556	rs1869177	G	A	rs1869177	24938310	9.03E-12	NA	2.9	[2.11-3.99]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1869177-G	Research Support, Non-U.S. Gov't	C	NA
15	74163276	rs2290346	G	A	rs2290346	24938310	8.42E-13	NA	3.04	[2.22-4.18]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs2290346-G	Research Support, Non-U.S. Gov't	C	NA
15	74168175	rs16958415	G	A	rs16958415	24938310	5.02E-11	NA	2.79	[2.03-3.82]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs16958415-C	Research Support, Non-U.S. Gov't	G	TBC1D21
15	74171006	rs4886725	G	A	rs4886725	24938310	6.01E-25	NA	3.97	[3.01-5.24]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4886725-A	Research Support, Non-U.S. Gov't	G	TBC1D21
15	74172013	rs4445847	C	T	rs4445847	24938310	3.74E-22	NA	3.97	[2.96-5.34]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4445847-C	Research Support, Non-U.S. Gov't	T	TBC1D21
15	74176557	rs16958445	G	A	rs16958445	24938310	2.00E-16	NA	5.18	[3.37-7.94]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs16958445-G	Research Support, Non-U.S. Gov't	G	TBC1D21
15	74204910	rs4558370	G	T	rs4558370	24938310	1.73E-05	NA	4.67	[2.15-10.10]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs4558370-C	Research Support, Non-U.S. Gov't	T	NA
15	74205807	rs11634339	T	C	rs11634339	24938310	5.20E-20	NA	3.82	[2.82-5.17]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs11634339-A	Research Support, Non-U.S. Gov't	T	NA
15	74219582	rs3825942	G	A	rs3825942	17690259	3.00E-21	NA	20.1	[10.80-37.41]	75 cases; 14,474 controls	NOPOP(14549)	ALL(14549)	NOPOP(14549)	ALL(14549)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs3825942-G	Research Support, Non-U.S. Gov't	G,C	LOXL1
15	74221298	rs1550437	C	T	rs1550437	24938310	8.20E-61	NA	16.62	[10.81-25.54]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1550437-G	Research Support, Non-U.S. Gov't	C	LOXL1
15	74223767	rs1992314	C	G	rs1992314	24938310	1.32E-83	NA	20.77	[13.86-31.12]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1992314-C	Research Support, Non-U.S. Gov't	C	LOXL1
15	74227140	rs12594472	A	T	rs12594472	24938310	6.49E-31	NA	12.35	[7.27-20.96]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs12594472-T	Research Support, Non-U.S. Gov't	A	LOXL1
15	74228464	rs893816	C	T	rs893816	24938310	1.42E-83	NA	20.77	[13.86-31.12]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs893816-T	Research Support, Non-U.S. Gov't	C	LOXL1
15	74229195	rs893818	G	A	rs893818	24938310	3.00E-84	NA	20.94	[13.98-31.39]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs893818-T	Research Support, Non-U.S. Gov't	G	LOXL1
15	74231349	rs16958494	C	T	rs16958494	24938310	2.04E-30	NA	12.14	[7.16-20.61]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs16958494-G	Research Support, Non-U.S. Gov't	C	LOXL1
15	74241235	rs893821	T	C	rs893821	24938310	3.03E-45	NA	3.83	[3.16-4.64]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs893821-G	Research Support, Non-U.S. Gov't	T	LOXL1
15	74243897	rs12441138	G	A	rs12441138	24938310	1.94E-18	NA	6.42	[4.02-10.24]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs12441138-G	Research Support, Non-U.S. Gov't	G	LOXL1
15	74317362	rs3825941	G	A	rs3825941	24938310	2.37E-14	NA	2.02	[1.68-2.43]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs3825941-T	Research Support, Non-U.S. Gov't	C	PML
15	74331083	rs10851869	T	C	rs10851869	24938310	2.66E-17	NA	2.6	[2.07-3.26]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs10851869-A	Research Support, Non-U.S. Gov't	C	PML
15	74331385	rs1550435	T	C	rs1550435	24938310	4.28E-17	NA	2.58	[2.06-3.24]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs1550435-A	Research Support, Non-U.S. Gov't	C	PML
15	74332188	rs3784556	C	A	rs3784556	24938310	1.22E-13	NA	2.9	[2.17-3.88]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs3784556-C	Research Support, Non-U.S. Gov't	T	PML
15	74338939	rs6772	C	T	rs6772	24938310	1.15E-04	NA	1.5	[1.22-1.84]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs6772-A	Research Support, Non-U.S. Gov't	C	PML
15	74343330	rs723434	A	G	rs723434	24938310	2.94E-11	NA	1.87	[1.55-2.25]	201 Japanese ancestry cases; 697 Japanese ancestry controls	Japanese(898)	ALL(898)	ASN(898)	ALL(898)	Glaucoma (exfoliation)	HPOID:0000501	Glaucoma	DOID:1686	glaucoma	D017889	Exfoliation Syndrome	EFOID:0004235	exfoliation syndrome	Glaucoma	rs723434-G	Research Support, Non-U.S. Gov't	T	NA

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:4)
CUI	ChemicalName	ChemicalID	CasRN	DiseaseName	DiseaseID	DirectEvidence	PubMedIDs
C0206368	dipivefrin	C015173	52365-63-6	exfoliation syndrome	MESH:D017889	therapeutic	6639507
C0206368	folic acid	D005492	59-30-3	exfoliation syndrome	MESH:D017889	marker/mechanism	16504073
C0206368	pilocarpine	D010862	92-13-7	exfoliation syndrome	MESH:D017889	therapeutic	3321877
C0206368	timolol	D013999	26839-75-8	exfoliation syndrome	MESH:D017889	therapeutic	15002024

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)