Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
0.700 GermlineCausalMutation disease ORPHANET Familial pseudohyperkalemia in blood donors: a novel mutation with implications for transfusion practice. 24947683 2014
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
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
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 GeneticVariation disease UNIPROT Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria. 25288164 2014
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
0.700 GermlineCausalMutation disease ORPHANET Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570 2013
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
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 GeneticVariation disease UNIPROT Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria. 24224009 2013
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 2013
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 GeneticVariation disease UNIPROT Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 2013
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 GeneticVariation disease UNIPROT ABCB6 mutations cause ocular coloboma. 22226084 2012
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
0.700 CausalMutation disease CLINVAR
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
0.700 Biomarker disease CTD_human
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 CausalMutation disease CLINVAR
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
0.700 Biomarker disease CTD_human
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 CausalMutation disease CLINVAR
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
0.700 Biomarker disease CTD_human
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE Recent US Food and Drug Administration (FDA) draft guidance on pharmacokinetic drugdrug interactions (DDIs) has highlighted the clinical importance of ABC transporters B1 or P-glycoprotein (P-gp), hepatic organic anion-transporting polypeptide transporters and breast cancer resistant protein because of their broad substrate specificity and the potential to be involved in DDIs. 30280663 2019
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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.400 Biomarker disease BEFREE ATP-binding cassette (ABC) genes have been shown to obstruct the treatment of breast cancer by providing resistance to malignant cells from anti-cancer drugs. 30181081 2018