GPC6, glypican 6, 10082

N. diseases: 86; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 GeneticVariation disease BEFREE The proband had normal molecular analysis of the glypican 6 gene (GPC6), which was recently reported as a candidate for autosomal recessive omodysplasia. 24458798 2014
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 Biomarker disease CTD_human We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6). 19481194 2009
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 Biomarker disease GENOMICS_ENGLAND We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6). 19481194 2009
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 GermlineCausalMutation disease ORPHANET We now report that autosomal-recessive omodysplasia, a genetic condition characterized by short-limbed short stature, craniofacial dysmorphism, and variable developmental delay, maps to chromosome 13 (13q31.1-q32.2) and is caused by point mutations or by larger genomic rearrangements in glypican 6 (GPC6). 19481194 2009
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C1850318
Disease: Omodysplasia type 1
Omodysplasia type 1 		0.710 CausalMutation disease CLINVAR
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.330 Biomarker disease BEFREE Overall, tremendous progress in the field of the genetics of osteoporosis has been achieved with the discovery of WNT16, EN1, DAAM2, and GPC6 among others. 30980960 2019
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.330 Biomarker disease BEFREE Glypican 6, a membrane surface proteoglycan involved in cellular growth control and differentiation, was identified as a novel determinant of BMD and represents a possible drug target for treatment of osteoporosis. 29794560 2018
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.330 Biomarker disease CTD_human Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. 28869591 2017
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.330 Biomarker disease BEFREE Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. 28869591 2017
CUI: C0001787
Disease: Osteoporosis, Age-Related
Osteoporosis, Age-Related 		0.300 Biomarker disease CTD_human Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. 28869591 2017
CUI: C0029459
Disease: Osteoporosis, Senile
Osteoporosis, Senile 		0.300 Biomarker disease CTD_human Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. 28869591 2017
CUI: C0751406
Disease: Post-Traumatic Osteoporosis
Post-Traumatic Osteoporosis 		0.300 Biomarker disease CTD_human Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. 28869591 2017
CUI: C0206762
Disease: Limb Deformities, Congenital
Limb Deformities, Congenital 		0.300 Biomarker group CTD_human Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 19481194 2009
CUI: C0376634
Disease: Craniofacial Abnormalities
Craniofacial Abnormalities 		0.300 Biomarker group CTD_human Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 19481194 2009
CUI: C2936816
Disease: Micromelic dysplasia, congenital, with dislocation of radius
Micromelic dysplasia, congenital, with dislocation of radius 		0.300 GermlineCausalMutation phenotype ORPHANET Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia. 19481194 2009
CUI: C0878659
Disease: Disproportionate short stature
Disproportionate short stature 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0019270
Disease: Hernia
Hernia 		0.110 GeneticVariation phenotype BEFREE Association of glypican-6 polymorphisms with lumbar disk herniation risk in the Han Chinese population. 31111662 2019
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		0.110 GeneticVariation disease GWASDB A genome-wide association study of neuroticism in a population-based sample. 20634892 2010
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM 		0.110 GeneticVariation disease BEFREE NKAIN2 showed suggestive evidence of association with neuroticism as a main effect (p < 10(-6)) and GPC6 showed suggestive evidence for interaction with age (p approximately = 10(-7)). 20634892 2010
CUI: C0019270
Disease: Hernia
Hernia 		0.110 Biomarker phenotype HPO
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.100 GeneticVariation phenotype GWASCAT Association of Genetic Variants Related to Gluteofemoral vs Abdominal Fat Distribution With Type 2 Diabetes, Coronary Disease, and Cardiovascular Risk Factors. 30575882 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.100 GeneticVariation disease GWASCAT Genome-wide association study of schizophrenia in Ashkenazi Jews. 26198764 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.100 GeneticVariation disease GWASDB Genome-wide association study of the rate of cognitive decline in Alzheimer's disease. 23535033 2014