Elliptocytosis, Hereditary
0.420
GeneticVariation
disease
BEFREE
The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera, Papua New Guinea.
11719395
2001
Elliptocytosis, Hereditary
0.420
GermlineCausalMutation
disease
ORPHANET
We used naturally mutated red blood cells (RBCs) with primary genetic defects resulting in the absence of protein 4.1 (4.1[-] hereditary elliptocytosis ) or glycophorin C (Leach elliptocytosis ).
8353290
1993
Elliptocytosis, Hereditary
0.420
Biomarker
disease
BEFREE
Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.
1884026
1991
Elliptocytosis, Hereditary
0.420
GermlineCausalMutation
disease
ORPHANET
Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype.
1884026
1991
Elliptocytosis, Hereditary
0.420
Biomarker
disease
HPO
Atrial Fibrillation
0.400
Biomarker
disease
CTD_human
Multi-ethnic genome-wide association study for atrial fibrillation.
29892015
2018
Atrial Fibrillation
0.400
GeneticVariation
disease
GWASCAT
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
Atrial Fibrillation
0.400
Biomarker
disease
CTD_human
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
Malaria
0.320
GeneticVariation
disease
LHGDN
Two geographically and ethnically distinct malaria endemic regions of PNG (the Wosera [East Sepik Province] and Liksul [Madang Province]) were studied to illustrate the distribution of two prominent deletion polymorphisms (GYPCDeltaex3 and SLC4A1Delta27) and to determine if the genetic load associated with SLC4A1Delta27 would constrain independent assortment of GYPCDeltaex3 heterozygous and homozygous genotypes.
14695625
2004
Malaria
0.320
GeneticVariation
disease
BEFREE
Glycophorin C (Gerbich antigen blood group) and band 3 polymorphisms in two malaria holoendemic regions of Papua New Guinea.
14695625
2004
Malaria
0.320
GeneticVariation
disease
BEFREE
The association of the glycophorin C exon 3 deletion with ovalocytosis and malaria susceptibility in the Wosera, Papua New Guinea.
11719395
2001
Malaria
0.320
Biomarker
disease
CTD_human
Paroxysmal atrial fibrillation
0.300
Biomarker
disease
CTD_human
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
Paroxysmal atrial fibrillation
0.300
Biomarker
disease
CTD_human
Multi-ethnic genome-wide association study for atrial fibrillation.
29892015
2018
Persistent atrial fibrillation
0.300
Biomarker
phenotype
CTD_human
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
Persistent atrial fibrillation
0.300
Biomarker
phenotype
CTD_human
Multi-ethnic genome-wide association study for atrial fibrillation.
29892015
2018
familial atrial fibrillation
0.300
Biomarker
phenotype
CTD_human
Biobank-driven genomic discovery yields new insight into atrial fibrillation biology.
30061737
2018
familial atrial fibrillation
0.300
Biomarker
phenotype
CTD_human
Multi-ethnic genome-wide association study for atrial fibrillation.
29892015
2018
Abdominal Pain
0.100
Biomarker
phenotype
HPO
Anemia, Hemolytic, Congenital
0.100
Biomarker
disease
HPO
Cholelithiasis
0.100
Biomarker
disease
HPO
×
CUI:
C0015967
Disease:
Fever
Fever
0.100
Biomarker
phenotype
HPO
Hydrops Fetalis
0.100
Biomarker
disease
HPO
Splenomegaly
0.100
Biomarker
phenotype
HPO
Chills
0.100
Biomarker
phenotype
HPO