Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1275278
Disease: Extraskeletal Myxoid Chondrosarcoma
Extraskeletal Myxoid Chondrosarcoma 		0.600 Biomarker disease CTD_human
CUI: C0008479
Disease: Chondrosarcoma
Chondrosarcoma 		0.190 Biomarker disease HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C0023234
Disease: Legg-Calve-Perthes Disease
Legg-Calve-Perthes Disease 		0.010 Biomarker disease BEFREE The importance of excluding generalised disorders which may mimic Perthes' disease and may show Mendelian inheritance is emphasised, but it is concluded that true Perthes' disease has a relatively minor genetic component. 963906 1976
CUI: C1442965
Disease: Avascular necrosis of the capital femoral epiphysis
Avascular necrosis of the capital femoral epiphysis 		0.010 Biomarker disease BEFREE The importance of excluding generalised disorders which may mimic Perthes' disease and may show Mendelian inheritance is emphasised, but it is concluded that true Perthes' disease has a relatively minor genetic component. 963906 1976
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Southern blot analysis of DNAs of neuroblastoma cell lines and primary MTCs showed that the high proto-ret expression in these tumors is not caused by gross genetic changes in the promoter region, suggesting the possible involvement of a region(s) other than the sequence from -167 to +98 bp or a minor genetic change(s) in the promoter region. 1350670 1992
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 AlteredExpression disease BEFREE Southern blot analysis of DNAs of neuroblastoma cell lines and primary MTCs showed that the high proto-ret expression in these tumors is not caused by gross genetic changes in the promoter region, suggesting the possible involvement of a region(s) other than the sequence from -167 to +98 bp or a minor genetic change(s) in the promoter region. 1350670 1992
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 AlteredExpression disease BEFREE Southern blot analysis of DNAs of neuroblastoma cell lines and primary MTCs showed that the high proto-ret expression in these tumors is not caused by gross genetic changes in the promoter region, suggesting the possible involvement of a region(s) other than the sequence from -167 to +98 bp or a minor genetic change(s) in the promoter region. 1350670 1992
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 AlteredExpression disease BEFREE Southern blot analysis of DNAs of neuroblastoma cell lines and primary MTCs showed that the high proto-ret expression in these tumors is not caused by gross genetic changes in the promoter region, suggesting the possible involvement of a region(s) other than the sequence from -167 to +98 bp or a minor genetic change(s) in the promoter region. 1350670 1992
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
Christ-Siemens-Touraine syndrome 		0.010 Biomarker disease BEFREE The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation. 7471507 1981
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
Anhydrotic Ectodermal Dysplasias 		0.010 Biomarker disease BEFREE The clinical features and the results of MINOR's sweat test suggest a heterozygous state of anhidrotic ectodermal dysplasia as the most likely explanation. 7471507 1981
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.040 AlteredExpression disease BEFREE In the present study, we examined the gene expression of NOR-1 as well as NGFI-B and NURR1 in human neuroblastoma cell lines by reverse transcription-polymerase chain reaction and nucleotide sequencing. 7553599 1995
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.040 AlteredExpression disease BEFREE In the present study, we examined the gene expression of NOR-1 as well as NGFI-B and NURR1 in human neuroblastoma cell lines by reverse transcription-polymerase chain reaction and nucleotide sequencing. 7553599 1995
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.040 AlteredExpression disease BEFREE In the present study, we examined the gene expression of NOR-1 as well as NGFI-B and NURR1 in human neuroblastoma cell lines by reverse transcription-polymerase chain reaction and nucleotide sequencing. 7553599 1995
CUI: C0342882
Disease: Familial hypercholesterolemia - heterozygous
Familial hypercholesterolemia - heterozygous 		0.010 GeneticVariation disease BEFREE Molecular characterization of minor gene rearrangements in Finnish patients with heterozygous familial hypercholesterolemia: identification of two common missense mutations (Gly823-->Asp and Leu380-->His) and eight rare mutations of the LDL receptor gene. 7573037 1995
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		0.020 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9 		0.010 Biomarker disease BEFREE Our results are consistent with the existence of a weak association between these two genes and BP, in such a way that TH and DRD2 could be considered as minor genes contributing to susceptibility. 7760324 1995
CUI: C0006852
Disease: Candidiasis of vagina
Candidiasis of vagina 		0.010 GeneticVariation disease BEFREE In the patient in whom the infecting strain was maintained, the infecting strain exhibited a minor genetic change in each successive episode of Candida vaginitis. 7852550 1994
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.020 GeneticVariation disease BEFREE To test this hypothesis, we screened a panel of SCLC and non-SCLC cell lines for major genetic alterations in the catalytic domain of the GAP gene with the Southern blot technique, and for minor genetic abnormalities (e.g., point mutations) with denaturing gradient gel electrophoresis and single-strand conformation polymorphism. 8270251 1994