Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 952
Gene Symbol: CD38
CD38
0.010 GeneticVariation disease BEFREE Evidence for a correlation between late replication and autosomal gene inactivation in a familial translocation t(X;21). 157971 1979
Entrez Id: 3156
Gene Symbol: HMGCR
HMGCR
0.010 AlteredExpression disease BEFREE The regulation of 3-hydroxy-3-methylglutaryl coenzyme-A reductase activity in leucocytes was studied in a family with familial type II hyperlipoproteinaemia (WHO classification). 172188 1975
Entrez Id: 3630
Gene Symbol: INS
INS
0.070 GeneticVariation disease BEFREE A structural abnormality appears to underlie familial hyperproinsulinemia proinsulin, which impairs its cleavage at the B-chain-C-peptide linkage site. 288074 1979
Entrez Id: 6906
Gene Symbol: SERPINA7
SERPINA7
0.010 Biomarker disease BEFREE Graves' disease associated with familial deficiency of thyroxine-binding globulin. 402376 1977
Entrez Id: 2688
Gene Symbol: GH1
GH1
0.060 Biomarker disease BEFREE Impaired thyrotropin responses to thyrotropin-releasing hormone distinguish these patients from most cases of idiopathic or familial deficiency of thyrotropin and growth hormone. 628396 1978
Entrez Id: 1621
Gene Symbol: DBH
DBH
0.020 AlteredExpression disease BEFREE Plasma and tumor dopamine-beta-hydroxylase activity in patients with familial pheochromocytomas. 723634 1978
Entrez Id: 56246
Gene Symbol: MRAP
MRAP
0.010 Biomarker disease BEFREE The HLA B27 gene was detected in all 12 families, and served as the main indicator of the familial trait for developing arthritis. 886557 1977
Entrez Id: 796
Gene Symbol: CALCA
CALCA
0.040 Biomarker disease BEFREE Four cases of familial bone dysplasia with hyperphosphatasaemia were treated with synthetic human calcitonin. 1052783 1976
Entrez Id: 1621
Gene Symbol: DBH
DBH
0.020 AlteredExpression disease BEFREE These observations suggest that the contribution of heredity is more important that shared environment in determining the familial pattern of distribution of serum DBH activity. 1120928 1975
Entrez Id: 351
Gene Symbol: APP
APP
0.100 GeneticVariation disease BEFREE Following the identification of mutations in the beta-amyloid precursor protein (APP) gene in familial, early onset Alzheimer's disease (AD), we have developed a screening protocol using single strand conformation analysis (SSCA) to screen exon 17 for the known mutations within APP. 1303172 1992
Entrez Id: 54658
Gene Symbol: UGT1A1
UGT1A1
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54576
Gene Symbol: UGT1A8
UGT1A8
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54577
Gene Symbol: UGT1A7
UGT1A7
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54600
Gene Symbol: UGT1A9
UGT1A9
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 7361
Gene Symbol: UGT1A
UGT1A
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54659
Gene Symbol: UGT1A3
UGT1A3
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54579
Gene Symbol: UGT1A5
UGT1A5
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54657
Gene Symbol: UGT1A4
UGT1A4
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54578
Gene Symbol: UGT1A6
UGT1A6
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 54575
Gene Symbol: UGT1A10
UGT1A10
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 56886
Gene Symbol: UGGT1
UGGT1
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 7355
Gene Symbol: SLC35A2
SLC35A2
0.020 GeneticVariation disease BEFREE The novel bilirubin/phenol UDP-glucuronosyltransferase UGT1 gene locus: implications for multiple nonhemolytic familial hyperbilirubinemia phenotypes. 1306114 1992
Entrez Id: 2934
Gene Symbol: GSN
GSN
0.010 GeneticVariation disease BEFREE Exclusion of the gelsolin gene on 9q32-34 as the cause of familial lattice corneal dystrophy type I. 1319113 1992
Entrez Id: 6513
Gene Symbol: SLC2A1
SLC2A1
0.050 GeneticVariation disease BEFREE The present study does not support the hypothesis that genetic variation within the GLUT1 or GLUT4 gene loci may be responsible for familial susceptibility to Type 2 diabetes. 1348023 1992
Entrez Id: 6517
Gene Symbol: SLC2A4
SLC2A4
0.010 GeneticVariation disease BEFREE The present study does not support the hypothesis that genetic variation within the GLUT1 or GLUT4 gene loci may be responsible for familial susceptibility to Type 2 diabetes. 1348023 1992