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 |
|
|
|
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 |
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 |
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 |
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 |
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 |
|
|
|
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 |
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 |
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 |
Abdominal Pain
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|
Anemia, Hemolytic
|
0.100 |
Biomarker
|
disease |
HPO |
|
|
|
Arthralgia
|
0.100 |
SusceptibilityMutation
|
phenotype |
CLINVAR |
|
|
|
Arthralgia
|
0.100 |
Biomarker
|
phenotype |
HPO |
|
|
|