Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1841837
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 		0.600 GeneticVariation disease CLINVAR
CUI: C1841837
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 		0.600 Biomarker disease GENOMICS_ENGLAND
CUI: C1841837
Disease: URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1
URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1 		0.600 Biomarker disease CTD_human
CUI: C0238462
Disease: Medullary carcinoma of thyroid
Medullary carcinoma of thyroid 		0.010 GeneticVariation disease BEFREE Complementary DNA clones encoding a novel protein, ABC-C, with the typical structural features of the ABC transporter family were identified in a human medullary thyroid carcinoma cell line. 8706931 1996
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.050 GeneticVariation disease BEFREE MRX genes of 2 families with X-linked mental retardation (XLMR) were localized by linkage analysis. 8826456 1996
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 Biomarker phenotype BEFREE The photoreceptor rim protein is an ABC transporter encoded by the gene for recessive Stargardt's disease (ABCR). 9202155 1997
CUI: C0020433
Disease: Hyperbilirubinemia
Hyperbilirubinemia 		0.010 Biomarker disease BEFREE We recently isolated a novel human member of ABC transporter superfamily as the candidate transporter for the glucuronide and glutathione-conjugated antitumor agents, and found it highly homologous to the rat cmoat gene. consistent with recent findings of defects in the homologous cmoat gene in two rat models of hyperbilirubinemia (TR- and Eisai), we report two deletions and a missense mutation in the active transport family signature region in the gene in patients with hyperbilirubinemia II/Dubin-Johnson syndrome (DJS; MIM 237500), respectively. 9425227 1998
CUI: C0022350
Disease: Jaundice, Chronic Idiopathic
Jaundice, Chronic Idiopathic 		0.010 Biomarker disease BEFREE Mutations in the canilicular multispecific organic anion transporter (cMOAT) gene, a novel ABC transporter, in patients with hyperbilirubinemia II/Dubin-Johnson syndrome. 9425227 1998
CUI: C0271093
Disease: Stargardt's disease
Stargardt's disease 		0.060 GeneticVariation phenotype BEFREE Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease. 9490294 1998
CUI: C4304338
Disease: X-linked sideroblastic anemia with spinocerebellar ataxia
X-linked sideroblastic anemia with spinocerebellar ataxia 		0.010 Biomarker disease BEFREE Cloning and chromosomal mapping of a novel ABC transporter gene (hABC7), a candidate for X-linked sideroblastic anemia with spinocerebellar ataxia. 9621516 1998
CUI: C2931498
Disease: Mental Retardation, X-Linked 1
Mental Retardation, X-Linked 1 		0.030 GeneticVariation disease BEFREE On the other hand, given the considerable genetic heterogeneity in MRX, one should be extremely cautious in using interfamilial linkage data to narrow down the localisation of MRX genes. 9783701 1998
CUI: C0268312
Disease: Progressive intrahepatic cholestasis (disorder)
Progressive intrahepatic cholestasis (disorder) 		0.010 GeneticVariation disease BEFREE A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540 1998
CUI: C4551898
Disease: Cholestasis, progressive familial intrahepatic 1
Cholestasis, progressive familial intrahepatic 1 		0.010 GeneticVariation disease BEFREE A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. 9806540 1998
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.400 Biomarker disease BEFREE Analysis of genomic DNA from BCRP-overexpressing MCF-7/MX cells demonstrated that the BCRP gene was also amplified in these cells. 10070941 1999
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.100 AlteredExpression disease BEFREE A variety of drug-resistant human cancer cell lines derived by selection with mitoxantrone markedly overexpressed BCRP mRNA; these cell lines included sublines of human breast carcinoma (MCF-7), colon carcinoma (S1 and HT29), gastric carcinoma (EPG85-257), fibrosarcoma (EPF86-079), and myeloma (8226) origins. 10070941 1999
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.080 AlteredExpression disease BEFREE A variety of drug-resistant human cancer cell lines derived by selection with mitoxantrone markedly overexpressed BCRP mRNA; these cell lines included sublines of human breast carcinoma (MCF-7), colon carcinoma (S1 and HT29), gastric carcinoma (EPG85-257), fibrosarcoma (EPF86-079), and myeloma (8226) origins. 10070941 1999
CUI: C0016057
Disease: Fibrosarcoma
Fibrosarcoma 		0.010 AlteredExpression disease BEFREE A variety of drug-resistant human cancer cell lines derived by selection with mitoxantrone markedly overexpressed BCRP mRNA; these cell lines included sublines of human breast carcinoma (MCF-7), colon carcinoma (S1 and HT29), gastric carcinoma (EPG85-257), fibrosarcoma (EPF86-079), and myeloma (8226) origins. 10070941 1999
CUI: C0278595
Disease: Adult Fibrosarcoma
Adult Fibrosarcoma 		0.010 AlteredExpression disease BEFREE A variety of drug-resistant human cancer cell lines derived by selection with mitoxantrone markedly overexpressed BCRP mRNA; these cell lines included sublines of human breast carcinoma (MCF-7), colon carcinoma (S1 and HT29), gastric carcinoma (EPG85-257), fibrosarcoma (EPF86-079), and myeloma (8226) origins. 10070941 1999
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.050 AlteredExpression disease BEFREE The results imply that an MRX gene subject to X inactivation is present in a roughly 4 Mb region between DXS7182 and DAX-1, and that reduced expression of the normal MRX gene caused by random X inactivation results in MR in carrier females. 10204842 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.050 AlteredExpression group BEFREE The results imply that an MRX gene subject to X inactivation is present in a roughly 4 Mb region between DXS7182 and DAX-1, and that reduced expression of the normal MRX gene caused by random X inactivation results in MR in carrier females. 10204842 1999
CUI: C0039292
Disease: Tangier Disease
Tangier Disease 		0.010 GeneticVariation disease BEFREE Our findings indicate that defects in ABC1, encoding a member of the ABC transporter superfamily, are the cause of TD. 10431238 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.050 GeneticVariation disease BEFREE Thorough investigation of an MRX critical region in Xp22.1-21.3 enabled us to identify a new gene expressed in brain that is responsible for a non-specific form of X-linked mental retardation. 10471494 1999
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		0.050 GeneticVariation disease BEFREE Further mutation analyses in males with X-linked mental retardation must prove that RSK4 is indeed a novel MRX gene. 10644430 1999
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		0.200 AlteredExpression disease BEFREE Additionally, but more controversial, expression of the ABC transporter multidrug resistance protein (MRP) and the vault-transporter lung resistance protein (LRP) have been correlated with outcome in AML. 10720143 2000
CUI: C0023418
Disease: leukemia
leukemia 		0.070 AlteredExpression disease BEFREE Relatively high expression of BCRP mRNA is observed in approximately 30% of AML cases, suggesting a potential role for this new transporter in drug resistance in leukemia. 10720143 2000