Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 Biomarker disease GENOMICS_ENGLAND Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders. 28327575 2017
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 GeneticVariation disease CLINVAR Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors. 25943031 2016
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 GeneticVariation disease BEFREE Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. 24906948 2014
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 GeneticVariation disease CLINVAR Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. 24906948 2014
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 Biomarker disease GENOMICS_ENGLAND Novel compound heterozygous PIGT mutations caused multiple congenital anomalies-hypotonia-seizures syndrome 3. 24906948 2014
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 Biomarker disease GENOMICS_ENGLAND A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 23733340 2013
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 GermlineCausalMutation disease ORPHANET A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. 23636107 2013
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 GeneticVariation disease UNIPROT A novel intellectual disability syndrome caused by GPI anchor deficiency due to homozygous mutations in PIGT. 23636107 2013
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 CausalMutation disease CLINVAR
MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 3
0.710 Biomarker disease CTD_human
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.430 GeneticVariation disease BEFREE The biochemistry and clinical manifestations indicate that these patients have subtle but important differences from those with PNH resulting from PIGA mutations, suggesting PIGT-PNH may be a distinct clinical entity. 31638602 2019
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.430 Biomarker disease BEFREE Thus, PIGT-PNH differs from PIGA-PNH both in the mechanism of clonal expansion and in clinical manifestations. 31430258 2019
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.430 Biomarker disease CTD_human The in vitro PIG-A gene mutation assay: mutagenicity testing via flow cytometry based on the glycosylphosphatidylinositol (GPI) status of TK6 cells. 25417052 2015
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.430 GeneticVariation disease BEFREE A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 23733340 2013
CUI: C0024790
Disease: Paroxysmal nocturnal hemoglobinuria
Paroxysmal nocturnal hemoglobinuria
0.430 Biomarker disease HPO
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
0.400 Biomarker disease GENOMICS_ENGLAND A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGT. 23733340 2013
PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2
0.400 SusceptibilityMutation disease CLINVAR
CUI: C0019050
Disease: Hemoglobinuria, Paroxysmal
Hemoglobinuria, Paroxysmal
0.300 Biomarker disease CTD_human The in vitro PIG-A gene mutation assay: mutagenicity testing via flow cytometry based on the glycosylphosphatidylinositol (GPI) status of TK6 cells. 25417052 2015
CUI: C0086774
Disease: Cold paroxysmal hemoglobinuria
Cold paroxysmal hemoglobinuria
0.300 Biomarker disease CTD_human The in vitro PIG-A gene mutation assay: mutagenicity testing via flow cytometry based on the glycosylphosphatidylinositol (GPI) status of TK6 cells. 25417052 2015
CUI: C0202177
Disease: Phospholipid measurement
Phospholipid measurement
0.100 GeneticVariation phenotype GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
High density lipoprotein measurement
0.100 GeneticVariation phenotype GWASCAT Common, low-frequency, and rare genetic variants associated with lipoprotein subclasses and triglyceride measures in Finnish men from the METSIM study. 29084231 2017
CUI: C0000737
Disease: Abdominal Pain
Abdominal Pain
0.100 Biomarker phenotype HPO
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic
0.100 Biomarker disease HPO
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.100 SusceptibilityMutation phenotype CLINVAR
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.100 Biomarker phenotype HPO