Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 GeneticVariation disease UNIPROT Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 24947683 2014
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 GeneticVariation disease UNIPROT Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570 2013
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 GeneticVariation disease UNIPROT ABCB6 mutations cause ocular coloboma. 22226084 2012
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 24224009 2013
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria. 24498303 2014
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 25288164 2014
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 GeneticVariation disease UNIPROT Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 2013
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease UNIPROT
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE ABC successfully identifies previously characterized functional SNVs, such as the rs4784227 breast cancer risk associated SNP that modulates the affinity of FOXA1 for the chromatin. 25995231 2015
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 GeneticVariation disease BEFREE Material and methods We included 108 patients with a histopathological diagnosis of BC treated at the ABC Medical Center in Mexico City. 31667039 2019
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.130 GeneticVariation disease BEFREE Using a positional cloning approach, we identified a mutation in the ATP-binding cassette (ABC) transporter ABCB6 in a Chinese family affected by autosomal-dominant coloboma. 22226084 2012
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.130 GeneticVariation disease BEFREE Given the involvement of ABCB6 mutations in coloboma, we performed ophthalmological examination of the DUH carriers of ABCB6 mutations and found ocular abnormalities in them. 24498303 2014
CUI: C0009363
Disease: Congenital ocular coloboma (disorder)
Congenital ocular coloboma (disorder) 		0.130 GeneticVariation disease BEFREE This review will focus on MAC phenotypes that are associated with mutation of the genes SOX2, OTX2, PAX6, STRA6, ALDH1A3, RARB, VSX2, RAX, FOXE3, BMP4, BMP7, GDF3, GDF6, ABCB6, ATOH7, C12orf57, TENM3 (ODZ3), and VAX1. 24859618 2014
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study. 29659903 2018
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.100 GeneticVariation group BEFREE Association between plasma lipid levels during acute coronary syndrome and long-term malignancy risk. The ABC-4* study on heart disease. 31109285 2019
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 GeneticVariation disease BEFREE In absence of experimental 3D structures, several homology models, based on ABC exporter 3D structures, have provided significant insights into the molecular mechanisms underlying the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride channel whose defects are associated with cystic fibrosis (CF). 25287046 2015
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.100 GeneticVariation disease BEFREE ABC genes are essential for many processes in the cell, and mutations in these genes cause or contribute to several human genetic disorders including cystic fibrosis, neurological disease, retinal degeneration, cholesterol and bile transport defects, anemia, and drug response. 11441126 2001
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE Creutzfeldt-Jakob disease with a novel four extra-repeat insertional mutation in the PrP gene. 10932276 2000
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE The epidemiological data suggests a very high familial incidence of CJD in this population and a molecular genetic research elucidated that CJD segregates with a point mutation at codon 200 of the PrP gene resulting in the substitution of Lysine for Glutamate. 7858176 1994
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE Among the dozen known mutations in the PrP gene which segregate with the inherited prion diseases, only 2 mutations have been described in Israel so far: the codon 200 mutation in Creutzfeldt-Jakob disease (CJD) affected Libyan Jews, and the codon 102 mutation in 1 Jewish Gerstmann-Straussler-Scheinker (GSS) affected pedigree of German origin. 9531435 1998
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE We have compared the immunomorphological spectrum of the deposition of the disease-associated prion protein (PrP(Sc)) in the cerebral and cerebellar cortex of 32 Creutzfeldt-Jakob disease (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and 14 other genetic prion disease cases. 12677444 2003
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE In Creutzfeldt-Jakob disease (CJD), the type (type 1 or 2) of abnormal isoform of the prion protein (PrP(Sc)) in the brain and the genotype at codon 129 of the PrP gene are major determinants of clinicopathological phenotype. 15604452 2005
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE There was no significant correlation between variables affecting CJD (i.e., disease subtype, prion strain, PRNP genotype) and those defining the AD/PART spectrum (i.e., ABC score, Thal phase, prevalence of CAA and Braak stage), and no difference in the distribution of APOE ε4 and ε2 genotypes among CJD subtypes. 30961668 2019
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE FFI and a familial type of Creutzfeldt-Jakob disease (CJD178), share the D178N mutation in the PrP gene but have distinct phenotypes linked to codon 129, the site of a methionine/valine polymorphism (129M/V). 8647879 1996
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
Creutzfeldt-Jakob disease 		0.100 GeneticVariation disease BEFREE An autopsy case of Creutzfeldt-Jakob disease with a V180I mutation of the PrP gene and Alzheimer-type pathology. 19703264 2010