Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1845977
Disease: X- linked recessive
X- linked recessive 		0.100 Biomarker phenotype HPO
CUI: C1844813
Disease: Widely spaced teeth
Widely spaced teeth 		0.100 Biomarker phenotype HPO
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 Biomarker disease HPO
CUI: C0037769
Disease: West Syndrome
West Syndrome 		0.400 GermlineCausalMutation disease ORPHANET Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality. 24357517 2014
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		0.100 Biomarker phenotype HPO
CUI: C0423109
Disease: Upward slant of palpebral fissure
Upward slant of palpebral fissure 		0.100 Biomarker phenotype HPO
CUI: C1273957
Disease: Upper limb spasticity
Upper limb spasticity 		0.100 Biomarker phenotype HPO
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		0.010 GeneticVariation phenotype BEFREE The Phosphatidylinositol glycan class A (PIG-A) gene mutation assay phenotypically measures erythrocyte mutations, assessed here for their correlation to neoplastic progression in the gastro-oesophageal reflux disease (GORD)-Barrett's metaplasia (BM)-oesophageal adenocarcinoma (OAC) model. 30914682 2019
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome 		0.010 GeneticVariation disease BEFREE Basically, the molecular events which underlie the complexity of the syndrome consist of the absence of the glycosylphosphatidylinositol (GPI) anchor as a consequence of somatic mutations in the PIG-A gene, located on the X chromosome. 11378665 2001
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		0.100 Biomarker phenotype HPO
CUI: C0007787
Disease: Transient Ischemic Attack
Transient Ischemic Attack 		0.100 Biomarker disease HPO
CUI: C2717961
Disease: Thrombotic Microangiopathies
Thrombotic Microangiopathies 		0.010 Biomarker group BEFREE Serum from patients with aHUS resulted in a significant increase of nonviable PIGA-deficient TF-1 cells compared with serum from healthy controls (P < .001) and other TMAs (P < .001). 25862562 2015
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.100 Biomarker disease HPO
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		0.100 Biomarker phenotype HPO
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0544886
Disease: Somatic mutation
Somatic mutation 		0.100 Biomarker phenotype HPO
CUI: C1846175
Disease: SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder)
SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 2 (disorder) 		0.010 GeneticVariation disease BEFREE A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2. 26545172 2016
CUI: C0521525
Disease: Short neck
Short neck 		0.100 Biomarker phenotype HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.010 Biomarker phenotype BEFREE Hypomorphic germline mutations in the PIGA (phosphatidylinositol glycan class A) gene recently were recognized as the cause of a clinically heterogeneous spectrum of X-linked disorders including (i) early onset epileptic encephalopathy with severe muscular hypotonia, dysmorphism, multiple congenital anomalies, and early death ("MCAHS2"), (ii) neurodegenerative encephalopathy with systemic iron overload (ferro-cerebro-cutaneous syndrome, "FCCS"), and (iii) intellectual disability and seizures without dysmorphism. 26545172 2016
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.100 Biomarker disease HPO
CUI: C2973725
Disease: Pulmonary arterial hypertension
Pulmonary arterial hypertension 		0.100 Biomarker disease HPO
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.020 GeneticVariation disease BEFREE Glycosylphosphatidylinositol (GPI) anchored protein deficiency serves as a reliable reporter of Pig-a gene Mutation: Support from an in vitro assay based on L5178Y/Tk<sup>+/-</sup> cells and the CD90.2 antigen. 29115020 2018
CUI: C0033626
Disease: Protein Deficiency
Protein Deficiency 		0.020 GeneticVariation disease BEFREE Although a single mutation event in the X-chromosomal gene PIGA is known to cause GPI-anchored protein deficiency, 2 such hits are required in the autosomal gene PIGT. 23733340 2013
CUI: C1853737
Disease: Prominent occiput
Prominent occiput 		0.100 Biomarker phenotype HPO
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 GeneticVariation group BEFREE In this study, we investigated whether mutation of the PIGA gene could be exploited to identify mutator (Mut) phenotypes in cancer. 11212264 2001