GYPC, glycophorin C (Gerbich blood group), 2995

N. diseases: 55; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.420 Biomarker disease BEFREE Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 1884026 1991
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.420 Biomarker disease HPO
CUI: C0013902
Disease: Elliptocytosis, Hereditary
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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
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
CUI: C0013902
Disease: Elliptocytosis, Hereditary
Elliptocytosis, Hereditary 		0.420 GermlineCausalMutation disease ORPHANET Molecular basis for elliptocytosis associated with glycophorin C and D deficiency in the Leach phenotype. 1884026 1991
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 GeneticVariation disease GWASCAT Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		0.400 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0024530
Disease: Malaria
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
CUI: C0024530
Disease: Malaria
Malaria 		0.320 Biomarker disease CTD_human
CUI: C0024530
Disease: Malaria
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
CUI: C0024530
Disease: Malaria
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
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Biobank-driven genomic discovery yields new insight into atrial fibrillation biology. 30061737 2018
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		0.300 Biomarker disease CTD_human Multi-ethnic genome-wide association study for atrial fibrillation. 29892015 2018
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital 		0.100 Biomarker disease HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis 		0.100 Biomarker disease HPO
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.100 Biomarker disease HPO
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.100 Biomarker disease HPO
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.100 Biomarker disease HPO
CUI: C0857007
Disease: Hyperbilirubinemia, Neonatal
Hyperbilirubinemia, Neonatal 		0.100 Biomarker disease HPO
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.020 AlteredExpression disease BEFREE The increase in the major choline-containing metabolite phosphocholine (PCho) in EOC compared with normal and nontumoral immortalized counterparts (EONT) may derive from (a) enhanced choline transport and choline kinase (ChoK)-mediated phosphorylation, (b) increased PC-specific phospholipase C (PC-plc) activity, and (c) increased intracellular choline production by PC deacylation plus glycerophosphocholine-phosphodiesterase (GPC-pd) or by phospholipase D (pld)-mediated PC catabolism followed by choline phosphorylation. 20179205 2010
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		0.020 GeneticVariation disease BEFREE Our objective was to use Mendelian randomization to evaluate whether SZ increased risk for developing EOC or the converse, and, whether SZ impacted 1- or 2-glycerophosphocholine (1- or 2-GPC) metabolites. 31844628 2019
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		0.020 GeneticVariation disease BEFREE In Papua New Guinea (PNG), the Gerbich-negative phenotype is caused by an exon 3 deletion in the glycophorin C gene (GYPCDeltaex3) while heterozygosity for a 27-base pair deletion in the SLC4A1 gene (anion exchanger 1 or erythrocyte membrane protein, band 3), SLC4A1Delta27, results in Southeast Asian ovalocytosis. 14695625 2004
CUI: C1862322
Disease: Ovalocytosis, Malaysian-Melanesian-Filipino Type
Ovalocytosis, Malaysian-Melanesian-Filipino Type 		0.020 Biomarker disease BEFREE GPC, an integral protein that binds with high affinity to the RBC membrane skeleton, showed oscillatory motion within confinement areas that were smaller in SAO RBCs than in nRBCs. 21793815 2011
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		0.020 GeneticVariation disease BEFREE Our objective was to use Mendelian randomization to evaluate whether SZ increased risk for developing EOC or the converse, and, whether SZ impacted 1- or 2-glycerophosphocholine (1- or 2-GPC) metabolites. 31844628 2019