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 GermlineCausalMutation disease ORPHANET 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 GermlineCausalMutation disease ORPHANET Missense mutations in the ABCB6 transporter cause dominant familial pseudohyperkalemia. 23180570 2013
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 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
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: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 CausalMutation disease CLINVAR
CUI: C1836705
Disease: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak 		0.700 Biomarker disease CTD_human
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 CausalMutation disease CLINVAR
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: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
CUI: C3281027
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 		0.700 Biomarker disease CTD_human
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND Mitochondrial medicine in the omics era. 29903433 2018
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 Biomarker disease GENOMICS_ENGLAND Mutations in ABCB6 cause dyschromatosis universalis hereditaria. 23519333 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 CausalMutation disease CLINVAR
CUI: C3809394
Disease: DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3
DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3 		0.700 Biomarker disease GENOMICS_ENGLAND ABCB6 mutations cause ocular coloboma. 22226084 2012
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 Biomarker disease CTD_human
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 Biomarker disease BEFREE Iodinated oestradiol-labeled oestrogen receptor (ER) isoforms devoid of amino-terminal ABC domains represent about two-thirds of the whole receptor population detected in cytosol samples from human breast cancers. 11056692 2000
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 Biomarker disease BEFREE Discovered first in cancer, the activity of P-glycoprotein (P-gp) and others ABC transporters as multidrug-resistance-associated proteins (MRPs) and breast cancer resistant protein (BCRP) are directly related with the refractoriness. 17910594 2007
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.400 AlteredExpression disease BEFREE Since ABC transporters and their induction by chemotherapy drugs are a major cause of chemoresistance and treatment failure, these results support the idea that targeting the enzymatic activity of BRG1 would be an effective adjuvant therapy for breast cancer. 27029062 2016