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	keratoconus

Disease ID	540
Disease	keratoconus
Definition	A noninflammatory, usually bilateral protrusion of the cornea, the apex being displaced downward and nasally. It occurs most commonly in females at about puberty. The cause is unknown but hereditary factors may play a role. The -conus refers to the cone shape of the corneal protrusion. (From Dorland, 27th ed)
Synonym	bulging cornea conical cornea cornea conical keratoconus (disorder) keratoconus [disease/finding] keratoconus nos keratoconus nos (disorder) keratoconus, nos keratoconus, unspecified unspecified keratoconus unspecified keratoconus (disorder)
Orphanet	ORPHANET:156071
DOID	DOID:10126
UMLS	C0022578
MeSH	D007640
SNOMED-CT	SNOMEDCT_US_2016_09_01:65636009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:38) C0004106 \| astigmatism \| 10 C0086543 \| cataract \| 7 C0027092 \| myopia \| 5 C0152194 \| irregular astigmatism \| 3 C0015310 \| exotropia \| 2 C0022573 \| keratoconjunctivitis \| 2 C0038379 \| strabismus \| 2 C0037315 \| sleep apnea \| 2 C0015397 \| ocular disease \| 2 C0034951 \| refractive error \| 2 C0520679 \| obstructive sleep apnea \| 2 C0175702 \| williams-beuren syndrome \| 2 C0155135 \| corneal ectasia \| 2 C0030354 \| papilloma \| 1 C0037315 \| sleep apnoea \| 1 C0259779 \| fibrous dysplasia \| 1 C0520679 \| obstructive sleep apnoea \| 1 C0011615 \| atopic dermatitis \| 1 C0456909 \| blindness \| 1 C0001080 \| achondroplasia \| 1 C0021390 \| inflammatory bowel disease \| 1 C0151740 \| intracranial hypertension \| 1 C0524851 \| neurodegenerative disease \| 1 C0021831 \| bowel disease \| 1 C0003081 \| anisometropia \| 1 C0013502 \| hydatid cyst \| 1 C0021053 \| immune disorders \| 1 C0524851 \| neurodegenerative diseases \| 1 C0003873 \| rheumatoid arthritis \| 1 C0041341 \| tuberous sclerosis \| 1 C0175702 \| williams-beuren syndrome (wbs) \| 1 C0011603 \| dermatitis \| 1 C0086543 \| cataract form \| 1 C0587248 \| costello syndrome \| 1 C0012236 \| 22q11.2 deletion syndrome \| 1 C0035309 \| retinopathy \| 1 C0021053 \| immune disorder \| 1 C0026267 \| mitral valve prolapse \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:3) 30813 \| VSX1 \| CTD_human 64778 \| FNDC3B \| CTD_human 2308 \| FOXO1 \| CTD_human
Inferring Gene	Entrez_id \| Symbol \| Resource(Total Genes:16) 1285 \| COL4A3 \| CIPHER 1286 \| COL4A4 \| CIPHER 1295 \| COL8A1 \| CIPHER 1296 \| COL8A2 \| CIPHER 100126791 \| EGOT \| CIPHER 3552 \| IL1A \| CIPHER 3553 \| IL1B \| CIPHER 3557 \| IL1RN \| CIPHER 5530 \| PPP3CA \| CIPHER 6647 \| SOD1 \| CIPHER 23190 \| UBXN4 \| CIPHER 30813 \| VSX1 \| CIPHER;CTD_human 57615 \| ZNF492 \| CIPHER 148198 \| ZNF98 \| CIPHER 64778 \| FNDC3B \| CTD_human 2308 \| FOXO1 \| CTD_human
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:136) 60 \| ACTB \| 1.551 \| DISEASES 11173 \| ADAMTS7 \| 1.692 \| DISEASES 23746 \| AIPL1 \| 3.188 \| DISEASES 11214 \| AKAP13 \| 2.02 \| DISEASES 238 \| ALK \| 1.709 \| DISEASES 51378 \| ANGPT4 \| 1.894 \| DISEASES 23452 \| ANGPTL2 \| 1.222 \| DISEASES 27329 \| ANGPTL3 \| 1.169 \| DISEASES 253935 \| ANGPTL5 \| 2.888 \| DISEASES 10218 \| ANGPTL7 \| 2.05 \| DISEASES 653145 \| ANXA8 \| 1.834 \| DISEASES 728113 \| ANXA8L1 \| 1.818 \| DISEASES 85316 \| BAGE5 \| 1.353 \| DISEASES 633 \| BGN \| 1.411 \| DISEASES 6046 \| BRD2 \| 1.914 \| DISEASES 153571 \| C5orf38 \| 1.274 \| DISEASES 9350 \| CER1 \| 2.85 \| DISEASES 4166 \| CHST6 \| 3.045 \| DISEASES 79827 \| CLMP \| 1.489 \| DISEASES 26504 \| CNNM4 \| 2.023 \| DISEASES 1282 \| COL4A1 \| 1.748 \| DISEASES 1284 \| COL4A2 \| 2.718 \| DISEASES 1285 \| COL4A3 \| 3.265 \| DISEASES 1286 \| COL4A4 \| 3.401 \| DISEASES 1289 \| COL5A1 \| 4.224 \| DISEASES 1290 \| COL5A2 \| 1.43 \| DISEASES 1291 \| COL6A1 \| 1.003 \| DISEASES 23418 \| CRB1 \| 2.711 \| DISEASES 56998 \| CTNNBIP1 \| 2.169 \| DISEASES 1508 \| CTSB \| 2.59 \| DISEASES 1520 \| CTSS \| 2.552 \| DISEASES 1538 \| CYLC1 \| 4.416 \| DISEASES 199699 \| DAND5 \| 1.867 \| DISEASES 267012 \| DAOA \| 1.418 \| DISEASES 80067 \| DCAF17 \| 1.73 \| DISEASES 64421 \| DCLRE1C \| 1.688 \| DISEASES 1660 \| DHX9 \| 3.396 \| DISEASES 55466 \| DNAJA4 \| 2.497 \| DISEASES 5611 \| DNAJC3 \| 2.127 \| DISEASES 23348 \| DOCK9 \| 5.024 \| DISEASES 1805 \| DPT \| 3.743 \| DISEASES 1994 \| ELAVL1 \| 1.372 \| DISEASES 2108 \| ETFA \| 1.213 \| DISEASES 2139 \| EYA2 \| 2.031 \| DISEASES 646480 \| FABP9 \| 1.69 \| DISEASES 63901 \| FAM111A \| 2.494 \| DISEASES 22909 \| FAN1 \| 5.288 \| DISEASES 10160 \| FARP1 \| 2.232 \| DISEASES 2200 \| FBN1 \| 1.601 \| DISEASES 2316 \| FLNA \| 3.699 \| DISEASES 64778 \| FNDC3B \| 4.053 \| DISEASES 2308 \| FOXO1 \| 2.11 \| DISEASES 2556 \| GABRA3 \| 1.89 \| DISEASES 2903 \| GRIN2A \| 1.73 \| DISEASES 2934 \| GSN \| 1.688 \| DISEASES 352990 \| HCP5B \| 2.945 \| DISEASES 26508 \| HEYL \| 2.239 \| DISEASES 80201 \| HKDC1 \| 2.701 \| DISEASES 3105 \| HLA-A \| 1.975 \| DISEASES 3339 \| HSPG2 \| 1.551 \| DISEASES 10581 \| IFITM2 \| 5.318 \| DISEASES 3476 \| IGBP1 \| 2.197 \| DISEASES 83943 \| IMMP2L \| 1.921 \| DISEASES 3645 \| INSRR \| 2.025 \| DISEASES 79191 \| IRX3 \| 2.72 \| DISEASES 6453 \| ITSN1 \| 2.74 \| DISEASES 284359 \| IZUMO1 \| 1.575 \| DISEASES 3744 \| KCNA10 \| 1.117 \| DISEASES 1316 \| KLF6 \| 1.818 \| DISEASES 3850 \| KRT3 \| 2.896 \| DISEASES 167691 \| LCA5 \| 1.831 \| DISEASES 286256 \| LCN12 \| 3.854 \| DISEASES 3980 \| LIG3 \| 1.515 \| DISEASES 81698 \| LINC00597 \| 3.854 \| DISEASES 84894 \| LINGO1 \| 1.198 \| DISEASES 4033 \| LRMP \| 2.113 \| DISEASES 256691 \| MAMDC2 \| 2.908 \| DISEASES 80122 \| MAP3K19 \| 3.183 \| DISEASES 4146 \| MATN1 \| 1.29 \| DISEASES 4312 \| MMP1 \| 2.512 \| DISEASES 4318 \| MMP9 \| 2.958 \| DISEASES 10933 \| MORF4L1 \| 2.176 \| DISEASES 8777 \| MPDZ \| 3.807 \| DISEASES 10335 \| MRVI1 \| 2.423 \| DISEASES 4626 \| MYH8 \| 1.748 \| DISEASES 342538 \| NACA2 \| 2.299 \| DISEASES 79661 \| NEIL1 \| 1.462 \| DISEASES 4781 \| NFIB \| 2.645 \| DISEASES 4803 \| NGF \| 2.003 \| DISEASES 60506 \| NYX \| 2.823 \| DISEASES 5080 \| PAX6 \| 1.461 \| DISEASES 5451 \| POU2F1 \| 1.683 \| DISEASES 56980 \| PRDM10 \| 2.201 \| DISEASES 389333 \| PROB1 \| 3.398 \| DISEASES 5792 \| PTPRF \| 1.5 \| DISEASES 22930 \| RAB3GAP1 \| 4.089 \| DISEASES 55698 \| RADIL \| 3.46 \| DISEASES 5923 \| RASGRF1 \| 1.599 \| DISEASES 10741 \| RBBP9 \| 2.372 \| DISEASES 8732 \| RNGTT \| 2.153 \| DISEASES 64221 \| ROBO3 \| 2.532 \| DISEASES 57096 \| RPGRIP1 \| 1.175 \| DISEASES 6256 \| RXRA \| 2.664 \| DISEASES 6273 \| S100A2 \| 1.14 \| DISEASES 6275 \| S100A4 \| 1.055 \| DISEASES 388228 \| SBK1 \| 2.436 \| DISEASES 5275 \| SERPINB13 \| 1.95 \| DISEASES 57419 \| SLC24A3 \| 2.238 \| DISEASES 81031 \| SLC2A10 \| 1.917 \| DISEASES 83959 \| SLC4A11 \| 2.401 \| DISEASES 6590 \| SLPI \| 1.585 \| DISEASES 4090 \| SMAD5 \| 1.139 \| DISEASES 6667 \| SP1 \| 2.415 \| DISEASES 80176 \| SPSB1 \| 2.949 \| DISEASES 6491 \| STIL \| 1.403 \| DISEASES 8428 \| STK24 \| 2.911 \| DISEASES 4070 \| TACSTD2 \| 1.741 \| DISEASES 6905 \| TBCE \| 1.029 \| DISEASES 64216 \| TFB2M \| 2.669 \| DISEASES 7042 \| TGFB2 \| 2.54 \| DISEASES 7045 \| TGFBI \| 4.641 \| DISEASES 23650 \| TRIM29 \| 1.6 \| DISEASES 10194 \| TSHZ1 \| 1.432 \| DISEASES 203068 \| TUBB \| 1.27 \| DISEASES 286753 \| TUSC5 \| 4.333 \| DISEASES 29914 \| UBIAD1 \| 1.553 \| DISEASES 30813 \| VSX1 \| 6.873 \| DISEASES 7478 \| WNT8A \| 2.075 \| DISEASES 6935 \| ZEB1 \| 2.428 \| DISEASES 7546 \| ZIC2 \| 1.264 \| DISEASES 7692 \| ZNF133 \| 2.548 \| DISEASES 51710 \| ZNF44 \| 1.458 \| DISEASES 84627 \| ZNF469 \| 5.696 \| DISEASES 115560 \| ZNF501 \| 1.499 \| DISEASES 148266 \| ZNF569 \| 1.471 \| DISEASES 284390 \| ZNF763 \| 1.499 \| DISEASES
Locus	(Waiting for update.)

Disease ID	540
Disease	keratoconus
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:44) HP:0000483 \| Astigmatism \| 10 HP:0000969 \| Dropsy \| 9 HP:0000518 \| Cataract \| 7 HP:0000545 \| Near sightedness \| 6 HP:0011003 \| High myopia \| 5 HP:0000559 \| Corneal scarring \| 4 HP:0010535 \| Sleep apnea \| 3 HP:0002104 \| Absence of spontaneous respiration \| 3 HP:0100699 \| Scarring \| 3 HP:0001134 \| Anterior polar cataract \| 2 HP:0100689 \| Decreased corneal thickness \| 2 HP:0100692 \| Steep corneal curvature \| 2 HP:0002870 \| Obstructive sleep apnea \| 2 HP:0000486 \| Squint eyes \| 2 HP:0100583 \| Corneal perforation \| 2 HP:0001259 \| Coma \| 2 HP:0001096 \| Keratoconjunctivitis \| 2 HP:0000505 \| Poor vision \| 2 HP:0010696 \| Polar cataract \| 2 HP:0000577 \| Exotropia \| 2 HP:0000488 \| Noninflammatory retina disease \| 1 HP:0012531 \| Pain \| 1 HP:0001634 \| Mitral valve prolapse \| 1 HP:0001131 \| Corneal dystrophy \| 1 HP:0001999 \| Facial dysmorphism \| 1 HP:0000501 \| Glaucoma \| 1 HP:0002516 \| Intracranial pressure elevation \| 1 HP:0000589 \| Ocular coloboma \| 1 HP:0000572 \| Visual loss \| 1 HP:0000618 \| Blindness \| 1 HP:0012803 \| Anisometropia \| 1 HP:0000573 \| Retinal hemorrhage \| 1 HP:0004322 \| Stature below 3rd percentile \| 1 HP:0000622 \| Blurred vision \| 1 HP:0000201 \| Pierre-robin deformity \| 1 HP:0001370 \| Rheumatoid arthritis \| 1 HP:0011502 \| Posterior lenticonus \| 1 HP:0012740 \| Papilloma \| 1 HP:0001142 \| Lenticonus \| 1 HP:0001116 \| Macular coloboma \| 1 HP:0100033 \| Tic disorder \| 1 HP:0001047 \| Atopic dermatitis \| 1 HP:0000478 \| Abnormal eye \| 1 HP:0002063 \| Muscle rigidity \| 1

Disease ID	540
Disease	keratoconus
Manually Symptom	UMLS \| Name(Total Manually Symptoms:43) C2598155 \| pain C2363771 \| myopic astigmatism C1963186 \| ocular surface disease C1962986 \| glaucoma C1707516 \| corneal sensitivity C1527310 \| ametropia C1281914 \| corneal allograft rejection C1096274 \| corneal thinning C0948285 \| corneal striae C0730328 \| central serous chorioretinopathy C0700109 \| rigidity C0595921 \| intraocular pressure C0376288 \| amaurosis C0339682 \| corneal astigmatism C0339303 \| corneal graft rejection C0339273 \| corneal amyloidosis C0339084 \| floppy eyelid syndrome C0333230 \| acute hydrops C0271283 \| terrien's marginal degeneration C0175702 \| williams-beuren syndrome (wbs) C0155135 \| corneal ectasia C0155119 \| recurrent corneal erosions C0155118 \| corneal degeneration C0155090 \| sclerokeratitis C0152194 \| irregular astigmatism C0152193 \| regular astigmatism C0086437 \| joint hypermobility C0035304 \| retinal degeneration C0034951 \| refractive errors C0034951 \| refractive error C0034951 \| refraction disorders C0027149 \| myxoma C0027092 \| myopia C0026267 \| mitral valve prolapse C0024473 \| magnesium deficiency C0022568 \| keratitis C0018920 \| cavernous hemangioma C0018621 \| hay fever C0013720 \| ehlers-danlos syndrome C0009782 \| connective tissue disorders C0004106 \| astigmatism C0002418 \| amblyopia C0000880 \| acanthamoeba keratitis
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:19) C0004106 \| astigmatism \| 10 C0333230 \| acute hydrops \| 6 C0027092 \| myopia \| 6 C0152193 \| regular astigmatism \| 4 C0155135 \| corneal ectasia \| 4 C1527310 \| ametropia \| 3 C1707516 \| corneal sensitivity \| 3 C0152194 \| irregular astigmatism \| 3 C0034951 \| refractive error \| 2 C0034951 \| refraction disorders \| 1 C0339682 \| corneal astigmatism \| 1 C0026267 \| mitral valve prolapse \| 1 C2363771 \| myopic astigmatism \| 1 C0021888 \| intraocular pressure \| 1 C1096274 \| corneal thinning \| 1 C0017601 \| glaucoma \| 1 C0030193 \| pain \| 1 C0026837 \| rigidity \| 1 C0175702 \| williams-beuren syndrome (wbs) \| 1

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

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

All Snps(Total Genotypes:68)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs11145951	26040312	64778	FNDC3B	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	NA	9	136965812	T	C
rs11145951	26040312	5730	PTGDS	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	NA	9	136965812	T	C
rs11145951	26040312	2308	FOXO1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	NA	9	136965812	T	C
rs11145951	26040312	1289	COL5A1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000814326	2015	NA	9	136965812	T	C
rs11145951	26040312	286256	LCN12	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	NA	9	136965812	T	C
rs1324183	24265017	84708	LNX1	umls:C0022578	BeFree	The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.	0.000271442	2014	NA	9	13557492	A	C
rs1324183	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	9	13557492	A	C
rs1324183	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	NA	9	13557492	A	C
rs1324183	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	NA	9	13557492	A	C
rs1324183	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	9	13557492	A	C
rs1324183	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	NA	9	13557492	A	C
rs1324183	24265017	54971	BANP	umls:C0022578	BeFree	The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.	0.000271442	2014	NA	9	13557492	A	C
rs1536482	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	9	134548682	G	A
rs1536482	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	NA	9	134548682	G	A
rs1536482	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	NA	9	134548682	G	A
rs1536482	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	9	134548682	G	A
rs1536482	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	NA	9	134548682	G	A
rs191047852	22045297	23348	DOCK9	umls:C0022578	BeFree	Our results suggest that c.2262A>C (p.Gln754His) mutation in DOCK9 may contribute to the KTCN phenotype in the large KTCN-014 family.	0.000542884	2012	DOCK9	13	98885709	T	G
rs2071376	19043479	3552	IL1A	umls:C0022578	BeFree	The C/A genotype of rs2071376 in IL1A intron 6 was significantly different between the keratoconus patients and control subjects (p=0.034, OR=0.59, 95% CI 0.32<1.11).	0.003181358	2008	IL1A	2	112777818	G	T,A
rs2659546	21979947	5530	PPP3CA	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	PPP3CA	4	101116562	C	T
rs2721051	26040312	286256	LCN12	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	NA	13	40536747	C	T
rs2721051	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	NA	13	40536747	C	T
rs2721051	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	13	40536747	C	T
rs2721051	26040312	5730	PTGDS	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	NA	13	40536747	C	T
rs2721051	26040312	64778	FNDC3B	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	NA	13	40536747	C	T
rs2721051	26040312	1289	COL5A1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000814326	2015	NA	13	40536747	C	T
rs2721051	23291589	2308	FOXO1	umls:C0022578	BeFree	We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).	0.120814326	2013	NA	13	40536747	C	T
rs2721051	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	NA	13	40536747	C	T
rs2721051	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	NA	13	40536747	C	T
rs2721051	26040312	2308	FOXO1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	NA	13	40536747	C	T
rs2721051	23291589	64778	FNDC3B	umls:C0022578	BeFree	We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).	0.120814326	2013	NA	13	40536747	C	T
rs2721051	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	NA	13	40536747	C	T
rs4894535	23291589	64778	FNDC3B	umls:C0022578	BeFree	We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).	0.120814326	2013	FNDC3B	3	172277815	C	T
rs4894535	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	FNDC3B	3	172277815	C	T
rs4894535	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	FNDC3B	3	172277815	C	T
rs4894535	26040312	2308	FOXO1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	FNDC3B	3	172277815	C	T
rs4894535	23291589	2308	FOXO1	umls:C0022578	BeFree	We further showed that 2 CCT-associated loci, FOXO1 and FNDC3B, conferred relatively large risks for keratoconus in 2 cohorts with 874 cases and 6,085 controls (rs2721051 near FOXO1 had odds ratio (OR) = 1.62, 95% confidence interval (CI) = 1.4-1.88, P = 2.7 × 10(-10), and rs4894535 in FNDC3B had OR = 1.47, 95% CI = 1.29-1.68, P = 4.9 × 10(-9)).	0.120814326	2013	FNDC3B	3	172277815	C	T
rs4894535	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	FNDC3B	3	172277815	C	T
rs4894535	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	FNDC3B	3	172277815	C	T
rs4894535	26040312	5730	PTGDS	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	FNDC3B	3	172277815	C	T
rs4894535	26040312	64778	FNDC3B	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	FNDC3B	3	172277815	C	T
rs4894535	26040312	1289	COL5A1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000814326	2015	FNDC3B	3	172277815	C	T
rs4894535	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	FNDC3B	3	172277815	C	T
rs4894535	26040312	286256	LCN12	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	FNDC3B	3	172277815	C	T
rs4954218	21979947	22930	RAB3GAP1	umls:C0022578	BeFree	These findings suggest SNP rs4954218, located near the RAB3GAP1 gene, previously reported to be associated with corneal malformation, is a potential susceptibility locus for keratoconus.	0.000814326	2012	MAP3K19	2	135045855	G	T
rs4954218	21979947	80122	MAP3K19	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	MAP3K19	2	135045855	G	T
rs62637014	11548141	23746	AIPL1	umls:C0022578	BeFree	Leber's congenital amaurosis with anterior keratoconus in Pakistani families is caused by the Trp278X mutation in the AIPL1 gene on 17p.	0.000814326	2001	AIPL1	17	6425781	C	T
rs6430585	21979947	23190	UBXN4	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	UBXN4	2	135749357	A	C
rs6442925	21979947	100126791	EGOT	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	BHLHE40-AS1	3	4972191	T	C
rs7044529	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	COL5A1	9	134676205	C	T
rs7044529	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	COL5A1	9	134676205	C	T
rs7044529	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	COL5A1	9	134676205	C	T
rs7044529	26040312	5730	PTGDS	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	COL5A1	9	134676205	C	T
rs7044529	26040312	64778	FNDC3B	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	COL5A1	9	134676205	C	T
rs7044529	26040312	286256	LCN12	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000271442	2015	COL5A1	9	134676205	C	T
rs7044529	26040312	2308	FOXO1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.120814326	2015	COL5A1	9	134676205	C	T
rs7044529	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	COL5A1	9	134676205	C	T
rs7044529	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	COL5A1	9	134676205	C	T
rs7044529	26040312	1289	COL5A1	umls:C0022578	BeFree	We replicated the same trend of MAF alteration of the association between the SNPs rs4894535 (FNDC3B, chr3: 171995605), rs7044529 (COL5A1, chr9: 137568051), rs11145951 (LCN12-PTGDS, chr9: 139860264) and rs2721051 (FOXO1, chr13: 41110884) and KC-risk as reported by a recently published GWAS.	0.000814326	2015	COL5A1	9	134676205	C	T
rs8111998	21979947	148198	ZNF98	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	NA	19	22558873	C	T
rs8111998	21979947	57615	ZNF492	umls:C0022578	GAD	[A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.]	0.002367032	2012	NA	19	22558873	C	T
rs9938149	24265017	84627	ZNF469	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.001085767	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	6256	RXRA	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000271442	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	64778	FNDC3B	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	1289	COL5A1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.000814326	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	54971	BANP	umls:C0022578	BeFree	The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.	0.000271442	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	84708	LNX1	umls:C0022578	BeFree	The SNPs rs1324183 in the MPDZ-NF1B gene and rs9938149 (between BANP and ZNF4659) were associated with KC in this independent cohort, but their association was via a non-corneal curvature route.	0.000271442	2014	ZNF469	16	88298034	C	A
rs9938149	24265017	2308	FOXO1	umls:C0022578	BeFree	The following six single-nucleotide polymorphisms (SNPs) that showed a statistically significant association with KC in a recent GWAS study were selected for genotyping in our cohort: rs4894535 (FNDC3B), rs1324183 (MPDZ-NF1B), rs1536482 (RXRA-COL5A1), rs7044529 (COL5A), rs2721051 (FOXO1), and rs9938149 (BANP-ZNF469).	0.120814326	2014	ZNF469	16	88298034	C	A

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

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

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

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

Disease ID	540
Disease	keratoconus
Case	(Waiting for update.)