Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Amaurosis congenita of Leber, type 1
0.100 Biomarker disease BEFREE Following a broad panel of immunohistochemical stains, the strong positive staining of the spindle cells for LCA (CD45), CD20, and Bcl-6 confirmed the diagnosis of follicle center cell lymphoma. 31693188 2020
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Currently, more than 20 LCA genes have been identified, and genetic testing can now successfully identify the genetic defects in at least 75% of all LCA cases. 27010695 2016
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Children with strictly defined LCA with novel mutations of known LCA genes identified by targeted next-generation sequencing (NGS) and a prediction of pathogenicity (in silico) were included in this study (2013-2015). 27422788 2016
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE RD3 (LCA12) was implicated as a LCA gene based on the identification of homozygous truncating mutations in two LCA families despite the screening of large cohorts of patients. 23308101 2013
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Whole-exome sequencing detected mutations in the 19 known LCA genes in approximately half of Chinese families with LCA. 23661368 2013
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE The mutational screenings of RPE65 and other LCA genes are requisite in support of emerging gene specific therapy for LCA. 24066033 2013
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Here, we developed a comprehensive molecular test for LCA based on targeted MPS of all exons of 16 known LCA genes. 22261762 2012
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Twelve LCA genes have been identified, three of which account for Type I and nine for LCA type II. 20104588 2010
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE The data obtained from this study will help clinicians provide counseling on visual prognosis to patients with known mutations in LCA genes and be of value in future studies aimed at the treatment of LCA and early childhood-onset RP. 20079931 2010
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE The purpose of this study was to perform a comprehensive survey of all known Leber congenital amaurosis (LCA) genes and loci in a collection of 37 consanguineous LCA families from Saudi Arabia. 18936139 2009
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE CEP290 (15%), GUCY2D (12%), and CRB1 (10%) are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in approximately 20% of all LCA patients from north-western Europe, although this frequency is lower in other populations. 18632300 2008
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE This patient cohort was highly selected, as mutations in the known genes had been excluded with the LCA mutation chip, or a significant number of LCA genes had been excluded by comprehensive mutation analysis. 18055821 2007
Amaurosis congenita of Leber, type 1
0.100 GeneticVariation disease BEFREE Further screening of LCA patients unlinked to any of the four already identified LCA genes (n=86) identified seven additional mutations in six of them. 11528500 2001
Amaurosis congenita of Leber, type 1
0.100 Biomarker disease BEFREE H and S-R cells were CD30+, CD15+ (85% of the cases) and LCA (CD45). 8750633 1995