PedAM
Pediatric Disease Annotations & Medicines
| cataract | ||||
Manually Genotype(Total Text Mining Genotypes:0) |
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| (Waiting for update.) |
All Snps(Total Genotypes:46) | |||||||||||||
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| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs1048661 | 22194657 | 4016 | LOXL1 | umls:C0086543 | BeFree | Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls. | 0.003724241 | 2011 | LOXL1;LOXL1-AS1 | 15 | 73927205 | G | T |
| rs1048661 | 25130441 | 4016 | LOXL1 | umls:C0086543 | BeFree | The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX-)] and 90 control patients with cataract without EX (CT). | 0.003724241 | 2014 | LOXL1;LOXL1-AS1 | 15 | 73927205 | G | T |
| rs104893736 | 21735120 | 1427 | CRYGS | umls:C0086543 | BeFree | ¹H, ¹³C, and ¹⁵N assignments of wild-type human γS-crystallin and its cataract-related variant γS-G18V. | 0.121900093 | 2012 | CRYGS | 3 | 186539566 | C | A |
| rs104893736 | 19558189 | 1427 | CRYGS | umls:C0086543 | BeFree | The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress. | 0.121900093 | 2009 | CRYGS | 3 | 186539566 | C | A |
| rs104894201 | 26542570 | 1410 | CRYAB | umls:C0086543 | BeFree | The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. | 0.129520329 | 2015 | CRYAB | 11 | 111908934 | T | C |
| rs104894201 | 26542570 | 1409 | CRYAA | umls:C0086543 | BeFree | The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. | 0.217878945 | 2015 | CRYAB | 11 | 111908934 | T | C |
| rs104894201 | 21445271 | 1410 | CRYAB | umls:C0086543 | BeFree | A knock-in mouse model for the R120G mutation of αB-crystallin recapitulates human hereditary myopathy and cataracts. | 0.129520329 | 2011 | CRYAB | 11 | 111908934 | T | C |
| rs1063147 | 23322570 | 641 | BLM | umls:C0086543 | BeFree | The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). | 0.000271442 | 2013 | BLM | 15 | 90811275 | C | A,G,T |
| rs11574311 | 23322570 | 7486 | WRN | umls:C0086543 | BeFree | WRN-rs11574311 remains associated with cortical and mixed cataract and WRN-rs2725338 with mixed cataract after multiple testing correction. | 0.000542884 | 2013 | WRN | 8 | 31119144 | T | C |
| rs11574311 | 23322570 | 641 | BLM | umls:C0086543 | BeFree | The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). | 0.000271442 | 2013 | WRN | 8 | 31119144 | T | C |
| rs121908192 | 20593814 | 2671 | GFER | umls:C0086543 | BeFree | 84, 594-604] described an R194H mutation of human ALR that led to cataract, progressive muscle hypotonia, and hearing loss in three children. | 0.000271442 | 2010 | GFER | 16 | 1985991 | G | A |
| rs121909595 | 19382745 | 1421 | CRYGD | umls:C0086543 | BeFree | The cataract-associated R14C mutant of human gamma D-crystallin shows a variety of intermolecular disulfide cross-links: a Raman spectroscopic study. | 0.136869122 | 2009 | CRYGD;LOC100507443 | 2 | 208124321 | G | A |
| rs121912973 | 22065922 | 1409 | CRYAA | umls:C0086543 | BeFree | The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dominant congenital anterior polar cataracts in a Chinese family. | 0.217878945 | 2011 | CRYAA | 21 | 43172105 | G | A |
| rs143507827 | 23761725 | 1427 | CRYGS | umls:C0086543 | BeFree | Structural analysis of the mutant protein D26G of human γS-crystallin, associated with Coppock cataract. | 0.121900093 | 2013 | CRYGS | 3 | 186539542 | T | C |
| rs150857132 | 18334953 | 1421 | CRYGD | umls:C0086543 | BeFree | Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts. | 0.136869122 | 2008 | CRYGD;LOC100507443 | 2 | 208124183 | C | A,T |
| rs2165241 | 25130441 | 4016 | LOXL1 | umls:C0086543 | BeFree | The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX-)] and 90 control patients with cataract without EX (CT). | 0.003724241 | 2014 | LOXL1;LOXL1-AS1 | 15 | 73929861 | T | C |
| rs2165241 | 22194657 | 4016 | LOXL1 | umls:C0086543 | BeFree | Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls. | 0.003724241 | 2011 | LOXL1;LOXL1-AS1 | 15 | 73929861 | T | C |
| rs2289917 | 21941057 | 1419 | CRYGB | umls:C0086543 | BeFree | -47C allele of rs2289917 in CRYGB showed the strongest association with cataract (Odd Ratio-OR=3.34, 95% Confidence Interval-CI 95% =1.82-6.12, P=0.00007). | 0.003452799 | 2011 | CRYGB;LOC100507443 | 2 | 208146167 | G | A,C |
| rs25487 | 21245954 | 7515 | XRCC1 | umls:C0086543 | BeFree | It also showed that the AA genotype of XPD-Asp312Asn polymorphism when present in combination with the GA genotype of XRCC1-Arg399Gln had a fivefold and with AA had a fourfold risk for developing cataract. | 0.003452799 | 2011 | XRCC1 | 19 | 43551574 | T | C |
| rs25487 | 25285569 | 7515 | XRCC1 | umls:C0086543 | BeFree | XRCC1 Arg399Gln polymorphisms were associated with cataract risk (recessive model: ORfixed = 0.79, 95% CI: 0.67-0.93; dominant model: ORfixed = 0.84, 95% CI: 0.64-1.11; additive model: ORfixed = 0.82, 95% CI: 0.72-0.92). | 0.003452799 | 2016 | XRCC1 | 19 | 43551574 | T | C |
| rs2725338 | 23322570 | 641 | BLM | umls:C0086543 | BeFree | The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). | 0.000271442 | 2013 | WRN | 8 | 31042501 | G | A |
| rs2725338 | 23322570 | 7486 | WRN | umls:C0086543 | BeFree | WRN-rs11574311 remains associated with cortical and mixed cataract and WRN-rs2725338 with mixed cataract after multiple testing correction. | 0.000542884 | 2013 | WRN | 8 | 31042501 | G | A |
| rs2725383 | 23322570 | 641 | BLM | umls:C0086543 | BeFree | The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). | 0.000271442 | 2013 | WRN | 8 | 31075099 | C | G |
| rs28931605 | 19275895 | 1421 | CRYGD | umls:C0086543 | BeFree | Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained. | 0.136869122 | 2009 | CRYGD;LOC100507443 | 2 | 208124294 | G | T,A |
| rs28931605 | 23670788 | 1421 | CRYGD | umls:C0086543 | BeFree | Crystal structure of the cataract-causing P23T γD-crystallin mutant. | 0.136869122 | 2013 | CRYGD;LOC100507443 | 2 | 208124294 | G | T,A |
| rs28931605 | 24103489 | 1421 | CRYGD | umls:C0086543 | BeFree | We identified a missense P24T mutation in CRYGD that was responsible for coralliform cataract in our studied family. | 0.136869122 | 2013 | CRYGD;LOC100507443 | 2 | 208124294 | G | T,A |
| rs28931605 | 22669729 | 1421 | CRYGD | umls:C0086543 | BeFree | The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin. | 0.136869122 | 2012 | CRYGD;LOC100507443 | 2 | 208124294 | G | T,A |
| rs28931605 | 15709761 | 1421 | CRYGD | umls:C0086543 | BeFree | Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin. | 0.136869122 | 2005 | CRYGD;LOC100507443 | 2 | 208124294 | G | T,A |
| rs370424081 | 24549050 | 146862 | UNC45B | umls:C0086543 | BeFree | The p.Arg805Trp alteration in the mammalian UNC45B gene suggests that developmental cataract may be caused by a defect in non-muscle myosin assembly during maturation of the lens fiber cells. | 0.000271442 | 2014 | UNC45B | 17 | 35183460 | C | T |
| rs377423839 | 24654948 | 8419 | BFSP2 | umls:C0086543 | BeFree | We report a novel mutation (p.G112E) in the BFSP2 gene, underscoring the physiological importance of the beaded filament protein and supporting its role in human cataract formation. | 0.006253095 | 2015 | BFSP2 | 3 | 133400418 | G | A |
| rs3825942 | 25130441 | 4016 | LOXL1 | umls:C0086543 | BeFree | The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX-)] and 90 control patients with cataract without EX (CT). | 0.003724241 | 2014 | LOXL1;LOXL1-AS1 | 15 | 73927241 | G | A |
| rs3825942 | 22194657 | 4016 | LOXL1 | umls:C0086543 | BeFree | Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls. | 0.003724241 | 2011 | LOXL1;LOXL1-AS1 | 15 | 73927241 | G | A |
| rs386493716 | 21245954 | 7515 | XRCC1 | umls:C0086543 | BeFree | It also showed that the AA genotype of XPD-Asp312Asn polymorphism when present in combination with the GA genotype of XRCC1-Arg399Gln had a fivefold and with AA had a fourfold risk for developing cataract. | 0.003452799 | 2011 | NA | NA | NA | NA | NA |
| rs386493716 | 25285569 | 7515 | XRCC1 | umls:C0086543 | BeFree | XRCC1 Arg399Gln polymorphisms were associated with cataract risk (recessive model: ORfixed = 0.79, 95% CI: 0.67-0.93; dominant model: ORfixed = 0.84, 95% CI: 0.64-1.11; additive model: ORfixed = 0.82, 95% CI: 0.72-0.92). | 0.003452799 | 2016 | NA | NA | NA | NA | NA |
| rs387907338 | 20141356 | 1410 | CRYAB | umls:C0086543 | BeFree | Recessive p.R56W CRYAB mutation shows variable expressivity for lens opacity. | 0.129520329 | 2010 | CRYAB;HSPB2;HSPB2-C11orf52 | 11 | 111911559 | G | A |
| rs387907339 | 21920752 | 1410 | CRYAB | umls:C0086543 | BeFree | We report a novel CRYAB mutation, D109H, associated with posterior polar cataract, myofibrillar myopathy and cardiomyopathy in a two-generation family with five affected individuals. | 0.129520329 | 2012 | CRYAB | 11 | 111908967 | C | G |
| rs398122937 | 24019978 | 2700 | GJA3 | umls:C0086543 | BeFree | The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts. | 0.09659768 | 2013 | GJA3 | 13 | 20142862 | C | T |
| rs398122937 | 24019978 | 100128922 | LOC100128922 | umls:C0086543 | BeFree | The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts. | 0.002714419 | 2013 | GJA3 | 13 | 20142862 | C | T |
| rs398122947 | 16862070 | 1409 | CRYAA | umls:C0086543 | BeFree | Identification of a novel, putative cataract-causing allele in CRYAA (G98R) in an Indian family. | 0.217878945 | 2006 | CRYAA | 21 | 43170619 | G | A |
| rs398122947 | 20029648 | 1409 | CRYAA | umls:C0086543 | BeFree | The purpose of this study was to investigate the biological effects of the cataract-causing G98R mutation on the alphaA-crystallin (CRYAA) protein and to test the capability of chemical chaperone trimethylamine N-oxide (TMAO) to reverse such effects. | 0.217878945 | 2009 | CRYAA | 21 | 43170619 | G | A |
| rs4733220 | 23322570 | 641 | BLM | umls:C0086543 | BeFree | The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60). | 0.000271442 | 2013 | WRN | 8 | 31043374 | A | G |
| rs5030732 | 21268678 | 7345 | UCHL1 | umls:C0086543 | BeFree | Ubiquitin carboxyl-terminal esterase L1 (UCHL1) S18Y polymorphism in patients with cataracts. | 0.000542884 | 2011 | UCHL1;UCHL1-AS1 | 4 | 41257616 | C | A |
| rs61751949 | 21423869 | 1420 | CRYGC | umls:C0086543 | BeFree | The p.R48H variation in γC-crystallin may disrupt the normal structure of lens and can cause cataract. | 0.128163119 | 2011 | CRYGC;LOC100507443 | 2 | 208129550 | C | T |
| rs74315441 | 26542570 | 1410 | CRYAB | umls:C0086543 | BeFree | The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. | 0.129520329 | 2015 | CRYAA | 21 | 43169244 | C | T |
| rs74315441 | 26542570 | 1409 | CRYAA | umls:C0086543 | BeFree | The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract. | 0.217878945 | 2015 | CRYAA | 21 | 43169244 | C | T |
| rs8702 | 25883527 | 3831 | KLC1 | umls:C0086543 | BeFree | The G allele and GG genotype of KLC1 rs8702 were significantly over-represented among cataract patients, as compared to healthy controls (allele P[χ2]=0.001 and genotype P[χ2]=0.008, respectively) and are associated with an odds ratio for cataract development of 1.54 (95% confidence interval of 1.19-2.01). | 0.002909916 | 2015 | KLC1 | 14 | 103686015 | C | G |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:23) | |||||||||||||||||||||||||||||
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| 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 |
| 2 | 68237913 | rs146109287 | T | C | rs146109287 | 24951543 | 2.00E-07 | (Fixed effect) | 0.1 | [0.061-0.139] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs146109287-C |
| 2 | 147708864 | rs75638626 | T | C | rs75638626 | 24951543 | 8.00E-06 | (Fixed effect) | 0.08 | [0.041-0.119] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs75638626-C |
| 3 | 25171297 | rs11129182 | T | C | rs11129182 | 20664687 | 3.52E-07 | Type 2 diabetes with cataracts | NA | NA | 1715 Chinese cases; 2000 Chinese controls | Chinese(3715) | ALL(3715) | ASN(3715) | ALL(3715) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 3 | 65873106 | rs9876471 | G | A | rs9876471 | 20664687 | 4.48E-05 | Type 2 diabetes with cataracts | NA | NA | 1715 Chinese cases; 2000 Chinese controls | Chinese(3715) | ALL(3715) | ASN(3715) | ALL(3715) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 3 | 65879245 | rs264668 | C | T | rs264668 | 20664687 | 2.79E-05 | Type 2 diabetes with cataracts | NA | NA | 1715 Chinese cases; 2000 Chinese controls | Chinese(3715) | ALL(3715) | ASN(3715) | ALL(3715) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 3 | 68411119 | rs17047573 | T | G | rs17047573 | 20664687 | 8.35E-08 | Type 2 diabetes with cataracts | NA | NA | 1715 Chinese cases; 2000 Chinese controls | Chinese(3715) | ALL(3715) | ASN(3715) | ALL(3715) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 3 | 68412874 | rs17047586 | A | G | rs17047586 | 20664687 | 7.65E-08 | Type 2 diabetes with cataracts | NA | NA | 1715 Chinese cases; 2000 Chinese controls | Chinese(3715) | ALL(3715) | ASN(3715) | ALL(3715) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 3 | 156105084 | rs7615568 | T | G | rs7615568 | 24951543 | 1.00E-08 | (Random effect) | 0.11 | [0.051-0.169] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs7615568-G |
| 4 | 72316967 | rs148635969 | G | A | rs148635969 | 24951543 | 8.00E-06 | (Fixed effect) | 0.27 | [0.15-0.39] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs148635969-A |
| 5 | 175244437 | rs55914911 | A | G | rs55914911 | 24951543 | 1.00E-06 | (Fixed effect) | 0.23 | [0.13-0.33] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs55914911-G |
| 6 | 35322763 | rs7744392 | A | G | rs7744392 | 23137000 | 3.00E-06 | NA | NA | NA | 109 Han Chinese cases; 649 Han Chinese controls | Han Chinese(758) | ALL(758) | ASN(758) | ALL(758) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 6 | 143362753 | rs75796365 | T | C | rs75796365 | 24951543 | 3.00E-06 | (Fixed effect) | 0.13 | [0.071-0.189] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs75796365-C |
| 6 | 165953127 | rs545099 | C | T | rs545099 | 24951543 | 9.00E-06 | (Fixed effect) | 0.2 | [0.12-0.28] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs545099-C |
| 7 | 75255215 | rs1179624 | C | T | rs1179624 | 24951543 | 5.00E-06 | (Fixed effect) | 0.06 | [0.04-0.08] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs1179624-T |
| 9 | 20844431 | rs76495380 | C | T | rs76495380 | 24951543 | 2.00E-07 | (Fixed effect) | 0.14 | [0.081-0.199] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs76495380-T |
| 9 | 124969315 | rs10818649 | C | T | rs10818649 | 24951543 | 9.80E-06 | (Fixed effect) | 0.05 | [0.03-0.07] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs10818649-T |
| 11 | 25134544 | rs12788764 | T | C | rs12788764 | 24951543 | 5.00E-06 | (Fixed effect) | 0.07 | [0.05-0.09] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs12788764-C |
| 11 | 42738723 | rs142850025 | A | G | rs142850025 | 24951543 | 6.00E-06 | (Fixed effect) | 0.19 | [0.11-0.27] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs142850025-G |
| 12 | 110007993 | rs59227481 | A | G | rs59227481 | 24951543 | 6.00E-07 | (Fixed effect) | 0.08 | [0.041-0.119] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs59227481-G |
| 13 | 110806490 | rs1192201 | G | A | rs1192201 | 24951543 | 2.00E-06 | (Fixed effect) | 0.08 | [0.041-0.119] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs1192201-G |
| 16 | 57563671 | rs8052123 | T | C | rs8052123 | 23137000 | 5.00E-06 | NA | NA | NA | 109 Han Chinese cases; 649 Han Chinese controls | Han Chinese(758) | ALL(758) | ASN(758) | ALL(758) | Cataracts in type 2 diabetes | HPOID:0000518 | HPOID:0005978 | Cataract | Type II diabetes mellitus | DOID:83 | DOID:9352 | cataract | type 2 diabetes mellitus | D002386 | Cataract | NA | NA | Diabetes mellitus |
| 20 | 41072655 | rs3890324 | C | A | rs3890324 | 24951543 | 2.00E-06 | (Fixed effect) | 0.06 | [0.04-0.08] unit decrease | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs3890324-C |
| 21 | 44593140 | rs11911275 | A | G | rs11911275 | 24951543 | 2.00E-09 | (Random effect) | 0.08 | [0.021-0.139] unit increase | 2,369 Malaysian ancestry individuals; 2,200 Indian ancestry individuals; 2,571 Chinese ancestry individuals | Indian(2200) | Malaysian(2369) | Chinese(2571) | ALL(7140) | ASN(4940) | SAN(2200) | ALL(7140) | Age-related nuclear cataracts | HPOID:0000518 | Cataract | DOID:83 | cataract | NA | NA | NA | NA | Eye disease | rs11911275-G |
Mapped by lexical matching(Total Items:0) |
|---|
| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
|---|
| (Waiting for update.) |
Chemical(Total Drugs:13) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0086543 | acetaminophen | D000082 | 103-90-2 | cataract | MESH:D002386 | marker/mechanism | 10977129 | ||
| C0086543 | adenosine triphosphate | D000255 | 56-65-5 | cataract | MESH:D002386 | marker/mechanism | 15003327 | ||
| C0086543 | amifostine | D004999 | 20537-88-6 | cataract | MESH:D002386 | therapeutic | 11522636 | ||
| C0086543 | fluocinolone acetonide | D005446 | 67-73-2 | cataract | MESH:D002386 | marker/mechanism | 15767049 | ||
| C0086543 | folic acid | D005492 | 59-30-3 | cataract | MESH:D002386 | therapeutic | 11438049 | ||
| C0086543 | mitomycin | D016685 | 1950/7/7 | cataract | MESH:D002386 | marker/mechanism | 1454338 | ||
| C0086543 | peginterferon alfa-2b | C417083 | - | cataract | MESH:D002386 | marker/mechanism | 15316341 | ||
| C0086543 | ribavirin | D012254 | 36791-04-5 | cataract | MESH:D002386 | marker/mechanism | 15316341 | ||
| C0086543 | streptozocin | D013311 | 18883-66-4 | cataract | MESH:D002386 | marker/mechanism | 153477 | ||
| C0086543 | tretinoin | D014212 | 302-79-4 | cataract | MESH:D002386 | therapeutic | 17460283 | ||
| C0086543 | vitamin a | D014801 | 11103-57-4 | cataract | MESH:D002386 | therapeutic | 11438049 | ||
| C0086543 | thiamine | D013831 | 59-43-8 | cataract | MESH:D002386 | therapeutic | 11438049 | ||
| C0086543 | riboflavin | D012256 | 83-88-5 | cataract | MESH:D002386 | therapeutic | 11438049 | ||
FDA approved drug and dosage information(Total Drugs:4) | ||||||||
|---|---|---|---|---|---|---|---|---|
| DiseaseID | Drug_name | active_ingredients | strength | Dosage Form/Route | Marketing Status | TE code | RLD | RS |
| MESH:D002386 | ofirmev | acetaminophen | 1GM/100ML (10MG/ML) | SOLUTION;IV (INFUSION) | Prescription | AP | Yes | Yes |
| MESH:D002386 | ofirmev | acetaminophen | 1GM/100ML (10MG/ML) | SOLUTION;IV (INFUSION) | Prescription | AP | Yes | Yes |
| MESH:D002386 | acetaminophen | acetaminophen | 650MG | SUPPOSITORY;RECTAL | Over-the-counter | None | Yes | Yes |
| MESH:D002386 | acetaminophen | acetaminophen | 650MG | SUPPOSITORY;RECTAL | Over-the-counter | None | Yes | Yes |
FDA labeling changes(Total Drugs:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DiseaseID | Pediatric_Labeling_Date | Trade_Name | Generic_Name_or_Proper_Name | Indications Studied | Label Changes Summary | Product Labeling | BPCA(B) | PREA(P) | BPCA(B) and PREA(P) | Pediatric Rule (R) | Sponsor | Pediatric Exclusivity Granted Date | NNPS |
| MESH:D002386 | 2/11/2010 | ofirmev | acetaminophen | Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever | The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration | Labeling | - | P | - | - | Cadence | - | FALSE' |
| MESH:D002386 | 01/27/2017 | ofirmev | acetaminophen | Treatmeny of pain and fever in pediatric patients birth to 2 years | Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study. | Labeling | - | - | B,P | - | Mallinckrodt | 11/7/2016 | FALSE |
| MESH:D002386 | 2/11/2010 | ofirmev | acetaminophen | Management of mild-to-moderate pain, for the management of moderate-to-severe pain with adjunctive opioid analgesics, and for the reduction of fever | The safety and effectiveness of Ofirmev for the treatment of acute pain and fever in pediatric patients ages 2 years and older is supported by evidence from adequate and well-controlled studies of Ofirmev in adults. Additional safety and PK data was collected in 355 from premature neonates to adolescents. The effectiveness of Ofirmev for the treatment of acute pain and fever has not been studied in pediatric patients < 2 years of age.The PK exposure of Ofirmev observed in children and adolescents is similar to adults, but higher in neonates and infants. Dosing simulations from PK data in infants and neonates suggest that dose reductions of 33% in infants 1 month to < 2 years of age, and 50% in neonates up to 28 days, with a minimum dosing interval of 6 hours, will produce a PK exposure similar to that observed in children age 2 years and olderMost common adverse reactions in pediatric patients were nausea, vomiting, constipation, pruritus, agitation, and atelectasis.Information on dosing, clinical studies, adverse reactions and PK parametersNew dosage form and route of administration | Labeling | - | P | - | - | Cadence | - | FALSE' |
| MESH:D002386 | 01/27/2017 | ofirmev | acetaminophen | Treatmeny of pain and fever in pediatric patients birth to 2 years | Treatment of pain Efficacy was not demonstrated in pediatric patients younger than 2 years in a double-blind, placebo-controlled study of 198 pediatric patients younger than 2 years. Pediatric patients less than 2 years of age, including neonates from 28 to 40 weeks gestational age at birth, were randomized to receive opioid plus acetaminophen or opioid plus placebo. No difference in analgesic effect of intravenous acetaminophen, measured by assessment of reduced need for additional opioid treatment for pain control, was observed. Treatment of fever The safety and effectiveness for the treatment of fever in pediatric patients, including premature neonates born at 32 weeks or greater gestation is supported by adequate and well-controlled studies of Ofirmev in adults, clinical studies in 244 pediatric patients 2 years and older, and safety and pharmacokinetic data from 239 patients younger than 2 years including neonates 32 weeks or greater gestational age. Information on dosing, clinical trials. Postmarketing study. | Labeling | - | - | B,P | - | Mallinckrodt | 11/7/2016 | FALSE |