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: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
0.010 Biomarker disease BEFREE Choline alfoscerate (α-GPC) is a common choline compound and acetylcholine precursor in the brain, which has been shown to be effective in the treatment of Alzheimer's disease and dementia. 27765578 2017
CUI: C0002881
Disease: Anemia, Hemolytic, Congenital
Anemia, Hemolytic, Congenital
0.100 Biomarker disease HPO
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
0.010 AlteredExpression disease BEFREE The serum metabonomics study showed that the LDLR<sup>-/-</sup> ,PSGL-1<sup>-/-</sup> mice had higher levels of HDL, valine, acetate, pyruvate, choline, PC, GPC and glycine, and lower levels of LDL+VLDL and lactate at the early stage of atherosclerosis, while lactate, citrate and glutamine showed statistical significance at the late stage of atherosclerosis. 29483823 2018
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
0.010 AlteredExpression disease BEFREE The serum metabonomics study showed that the LDLR<sup>-/-</sup> ,PSGL-1<sup>-/-</sup> mice had higher levels of HDL, valine, acetate, pyruvate, choline, PC, GPC and glycine, and lower levels of LDL+VLDL and lactate at the early stage of atherosclerosis, while lactate, citrate and glutamine showed statistical significance at the late stage of atherosclerosis. 29483823 2018
CUI: C1274788
Disease: Atopic keratoconjunctivitis
Atopic keratoconjunctivitis
0.010 Biomarker disease BEFREE The study groups comprised 13 patients (13 eyes) with vernal keratoconjunctivitis (VKC group), 13 patients (13 eyes) with atopic keratoconjunctivitis (AKC group), 11 patients (11 eyes) with giant papillary conjunctivitis (GPC group), and 10 healthy volunteers (10 eyes) as a control. 17926108 2007
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: C0241982
Disease: Bulla of lung
Bulla of lung
0.010 Biomarker disease BEFREE To assess the actual sn-2 acetyl glycerophosphocholine species that result in this PAF agonistic activity, we measured PAF and related sn-2 acetyl GPCs in fresh blister fluid samples from bullous pemphigoid and noninflammatory (suction-induced) bullae by mass spectrometry. 9990675 1998
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
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 Biomarker group BEFREE α-GPC has been shown to enhance memory and cognitive function in stroke and Alzheimer's patients but currently remains untested in patients suffering from epilepsy. 27765578 2017
CUI: C0085593
Disease: Chills
Chills
0.100 Biomarker phenotype HPO
CUI: C0008350
Disease: Cholelithiasis
Cholelithiasis
0.100 Biomarker disease HPO
CUI: C0009769
Disease: Conjunctivitis, Giant Papillary
Conjunctivitis, Giant Papillary
0.010 GeneticVariation disease BEFREE The study groups comprised 13 patients (13 eyes) with vernal keratoconjunctivitis (VKC group), 13 patients (13 eyes) with atopic keratoconjunctivitis (AKC group), 11 patients (11 eyes) with giant papillary conjunctivitis (GPC group), and 10 healthy volunteers (10 eyes) as a control. 17926108 2007
CUI: C0497327
Disease: Dementia
Dementia
0.010 Biomarker disease BEFREE Choline alfoscerate (α-GPC) is a common choline compound and acetylcholine precursor in the brain, which has been shown to be effective in the treatment of Alzheimer's disease and dementia. 27765578 2017
CUI: C0344315
Disease: Depressed mood
Depressed mood
0.010 Biomarker phenotype BEFREE However, currently available evidence was of low quality and therefore inadequate to justify a strong recommendation of using GPD formulations in the management of depression. 26453561 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder
0.010 Biomarker disease BEFREE However, currently available evidence was of low quality and therefore inadequate to justify a strong recommendation of using GPD formulations in the management of depression. 26453561 2017
CUI: C0427480
Disease: Elliptocytosis found
Elliptocytosis found
0.100 Biomarker phenotype HPO
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