Skip to Main Content

Paper Details

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.
Orphanet J Rare Dis
20
2020
CONCLUSIONS IGDs, GPC2, GPC2 and GPC6 genes, GPC3, GPC6, GPC6 genes, GPI, HPO, HPO terms, Human, IGDs, Mendelian diseases, Transamidase, cleft palate, cognitive disability, congenital disorders of glycosylation, fatty acid, genes, glycosylphosphatidylinositol (, glypican family, inherited GPI deficiencies, nose, patients
Author NameAffiliation
Leigh C Carmody
Leigh C Carmody
Hannah Blau
Daniel Danis
Jean-Philippe GourdineOregon Health & Science University
Nicole VasilevskyOregon Health & Science University
Nicole VasilevskyOregon Health & Science University
Peter M KrawitzInstitute of Genomic Statistics and Bioinformatics, University of Bonn
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
Peter N Robinson
Peter N RobinsonInstitute for Systems Genomics, University of Connecticut
  • 1 - 12

Datasets

Dataset
Description
Source Link
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Human Phenotype OntologyStandardized vocabulary of phenotypic abnormalities in human diseaseLink
Release 1.2