Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 966
Gene Symbol: CD59
CD59 		0.330 GeneticVariation disease BEFREE Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. 30794663 2019
Entrez Id: 966
Gene Symbol: CD59
CD59 		0.330 GeneticVariation disease BEFREE We recently described a primary homozygous Cys89Tyr congenital nonfunctioning CD59 in humans with clinical manifestation in infancy, associated with chronic hemolysis, recurrent strokes, and relapsing peripheral demyelinating neuropathy. 29929138 2018
Entrez Id: 966
Gene Symbol: CD59
CD59 		0.330 Biomarker disease GENOMICS_ENGLAND Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency. 25716358 2015
Entrez Id: 966
Gene Symbol: CD59
CD59 		0.330 GeneticVariation disease BEFREE Identification of CD59 p.Cys89Tyr mutation in 5 patients from North-African Jewish origin presenting with chronic inflammatory demyelinating polyradiculoneuropathy like disease and chronic hemolysis, led us to reinvestigate an unsolved disease in 2 siblings from the same origin who died 17 years ago. 26233519 2015
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 GeneticVariation disease BEFREE This inherited haplotype represents a novel triple G6PD coding mutation causing chronic hemolysis. 18677765 2008
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 GeneticVariation disease BEFREE Two new glucose-6-phosphate dehydrogenase mutations causing chronic hemolysis. 16079115 2005
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 Biomarker disease BEFREE Favism and mild chronic hemolysis characterized the phenotype of the patient with G6PD Sumaré which contrasts with the more severe clinical picture of the patient with G6PD Utrecht and, in addition, that of the patient originally described with G6PD Sumaré. 14757424 2004
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 Biomarker disease BEFREE Thus, G6PD-deficient subjects may have a predisposition to develop gallstones, even in the absence of clinical signs of chronic hemolysis. 2024558 1991
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 GeneticVariation disease BEFREE Gd(-) Carapicuiba, a rare glucose-6-phosphate dehydrogenase variant associated with moderate enzyme deficiency and chronic hemolysis. 1823224 1991
Entrez Id: 2539
Gene Symbol: G6PD
G6PD 		0.060 GeneticVariation disease BEFREE G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico. 7129446 1982
Entrez Id: 5376
Gene Symbol: PMP22
PMP22 		0.010 GeneticVariation disease BEFREE Mutations in CD59 cause CIDP-like polyneuropathy in children with inherited chronic hemolysis. 30794663 2019
Entrez Id: 51450
Gene Symbol: PRRX2
PRRX2 		0.010 Biomarker disease BEFREE Prx2 is a key cytoprotector against IO that is induced either by iron supplementation or due to chronic hemolysis as in β-thalassemia. 28793778 2018
Entrez Id: 7001
Gene Symbol: PRDX2
PRDX2 		0.010 Biomarker disease BEFREE Prx2 is a key cytoprotector against IO that is induced either by iron supplementation or due to chronic hemolysis as in β-thalassemia. 28793778 2018
Entrez Id: 8266
Gene Symbol: UBL4A
UBL4A 		0.010 GeneticVariation disease BEFREE G-6-PD Guadalajara differs from all previously reported variants and is the first variant associated with chronic hemolysis found in Mexico. 7129446 1982