×
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
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