HTRA1, HtrA serine peptidase 1, 5654

N. diseases: 164; N. variants: 45
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE Drusen area ≥ the median was independently associated with a higher number of risk alleles for CFH risk score and risk variants in C3 and ARMS2/HTRA1 compared with eyes with no measurable drusen. 31658355 2019
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE The protein HtrA1 is enriched in retinal pigment epithelial (RPE) cells isolated from AMD patients and in drusen deposits. 29269042 2018
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE Only [CFH HTRA1] was significantly associated with increased central drusen area. 25627090 2015
CUI: C1260959
Disease: Drusen
Drusen
0.090 GeneticVariation disease BEFREE Tests for association revealed a variant in the promoter region of HTRA1 and two variants in the 5'-UTR of ARMS2 to be associated with drusen. 22465519 2012
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE The genes CFH, C3, CFB, and ARMS2/HTRA1 were associated with progression from intermediate drusen to large drusen and from large drusen to GA or NV. 22247473 2012
CUI: C1260959
Disease: Drusen
Drusen
0.090 GeneticVariation disease BEFREE CFH, C3, C2, and ARMS2/HTRA1 were associated with large drusen and advanced AMD. 21447678 2011
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE Variants within CFH and LOC387715/HTRA1 may contribute to the increased risk of late AMD largely through their impact on precursors, such as drusen and/or other RPE/Bruch's membrane changes. 17327825 2007
CUI: C1260959
Disease: Drusen
Drusen
0.090 GeneticVariation disease BEFREE Drusen is characterized by deposits in the macula without visual loss and is an early AMD sign in the Caucasian population. rs11200638 in the promoter of HTRA1 has recently been shown to increases the risk for wet AMD in both Caucasian and Hong Kong Chinese populations. 17904186 2007
CUI: C1260959
Disease: Drusen
Drusen
0.090 Biomarker disease BEFREE We also found that drusen in the eyes of AMD patients were strongly immunolabeled with HTRA1 antibody. 17053109 2006