CFHR2, complement factor H related 2, 3080

N. diseases: 12; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.410 GeneticVariation disease GWASDB Insights into the genetic architecture of early stage age-related macular degeneration: a genome-wide association study meta-analysis. 23326517 2013
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.410 Biomarker disease BEFREE Haplotype analysis supported our findings of single SNP association, demonstrating that the most significant haplotype, GATAGTTCTC, spanning CFH, CFHR4, and CFHR2 was associated with the greatest risk of developing neovascular AMD (P < 10-6). 18541031 2008
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.410 Biomarker disease GENOMICS_ENGLAND
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		0.300 Biomarker disease GENOMICS_ENGLAND Reclassification of membranoproliferative glomerulonephritis: Identification of a new GN: C3GN. 27458560 2016
CUI: C4087273
Disease: C3 glomerulopathy
C3 glomerulopathy 		0.300 Biomarker disease GENOMICS_ENGLAND Complement factor H-related hybrid protein deregulates complement in dense deposit disease. 24334459 2014
CUI: C0272242
Disease: Complement deficiency disease
Complement deficiency disease 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C2239219
Disease: von Willebrand's factor (lab test)
von Willebrand's factor (lab test) 		0.100 GeneticVariation phenotype GWASDB Ischemic stroke is associated with the ABO locus: the EuroCLOT study. 23381943 2013
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 Biomarker disease BEFREE Youth with T1DM had significantly increased amounts of complement factor H related protein 2 (FHR2; adjusted P < 0.05), compared to HC. 30922315 2019
CUI: C1260959
Disease: Drusen
Drusen 		0.010 Biomarker disease BEFREE Among the identified proteins, eight proteins, including APOA1, CFHR2, and CLUS, were previously considered major components or regulators of drusen. 30404605 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 Biomarker disease BEFREE To assess the ability of plasma apolipoprotein (apo) A-IV (apoA4), apo C-III, CD5 antigen-like (CD5L), complement C1q subcomponent subunit B (C1QB), complement factor H-related protein 2, and insulin-like growth factor binding protein 3 (IBP3) to predict rapid decline in estimated glomerular filtration rate (eGFR) in type 2 diabetes. 28851702 2017
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 GeneticVariation disease BEFREE The stratified analyses for AAU patients with ankylosing spondylitis (AS) revealed a reduced frequency of the A allele in CFHR2-rs2986127 compared to controls (p = 0.033, odds ratio = 0.563, 95% confidence interval = 330-0.960). 27306586 2016
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.010 GeneticVariation disease BEFREE The present study reveals an association between CFHR2-rs2986127 and AAU diagnosis, especially with respect to gender, AS status and other clinical signs, such as posterior segment involvement. 27306586 2016
CUI: C0017921
Disease: Glycogen storage disease type II
Glycogen storage disease type II 		0.010 Biomarker disease BEFREE Haplotype analysis supported our findings of single SNP association, demonstrating that the most significant haplotype, GATAGTTCTC, spanning CFH, CFHR4, and CFHR2 was associated with the greatest risk of developing neovascular AMD (P < 10-6). 18541031 2008
CUI: C0153594
Disease: Malignant neoplasm of testis
Malignant neoplasm of testis 		0.010 GeneticVariation disease BEFREE The familial risks in offspring were high, > 5 for thyroid (FHR 10.7 in all offspring, CI 95% 6.9-16.6), and testicular cancer (FHR 5.4, CI 95% 2.6-11.3), or intermediate, FHR 2-5, for colon, rectal, lung, breast, cervical, uterine, ovarian, skin (melanoma and squamous cell) and other endocrine gland cancers. 9754648 1998
CUI: C0855197
Disease: Malignant Testicular Germ Cell Tumor
Malignant Testicular Germ Cell Tumor 		0.010 GeneticVariation disease BEFREE The familial risks in offspring were high, > 5 for thyroid (FHR 10.7 in all offspring, CI 95% 6.9-16.6), and testicular cancer (FHR 5.4, CI 95% 2.6-11.3), or intermediate, FHR 2-5, for colon, rectal, lung, breast, cervical, uterine, ovarian, skin (melanoma and squamous cell) and other endocrine gland cancers. 9754648 1998