PLAA, phospholipase A2 activating protein, 9373

N. diseases: 113; N. variants: 8
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		0.100 GeneticVariation disease GWASCAT Genome-wide association meta-analysis of functional outcome after ischemic stroke. 30796134 2019
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 GeneticVariation disease UNIPROT Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 GermlineCausalMutation disease ORPHANET PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 Biomarker disease GENOMICS_ENGLAND PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 GeneticVariation disease UNIPROT PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 GermlineCausalMutation disease ORPHANET Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 Biomarker disease GENOMICS_ENGLAND Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		0.310 GeneticVariation disease BEFREE PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype BEFREE In both human and mouse, hypomorphic mutations in the ubiquitin adaptor protein PLAA cause an infantile-lethal neurodysfunction syndrome with seizures. 28413018 2017
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 Biomarker group BEFREE Phospholipase A2-activating protein is associated with a novel form of leukoencephalopathy. 28007986 2017
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.010 GeneticVariation disease BEFREE The strongest genetic association for SSc lies within the MHC region, with loci in HLA-DRB1, HLA-DQB1, HLA-DPB1, and HLA-DOA1 being the most replicated. 28526340 2017
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 GeneticVariation disease BEFREE The strongest genetic association for SSc lies within the MHC region, with loci in HLA-DRB1, HLA-DQB1, HLA-DPB1, and HLA-DOA1 being the most replicated. 28526340 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 AlteredExpression group BEFREE Similar to the original patient tumors, they both exhibited faint expression (+) of PLAP, no expression (-) of β-HCG and strong (+++) expression of KIT. 26956263 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE A combination of novel PLAP promoter and antibody based specificities has the potential for being developed as a possible therapeutic strategy for PLAP positive neoplasia. 26242403 2015
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.020 AlteredExpression disease BEFREE PLAP promoter alone or in combination with NFκB DNA response elements was used for expressing shRNA targeting the long control region (LCR) of human papillomavirus (HPV)-16 oncogenes E6 and E7 via transcriptional gene silencing in PLAP expressing cervical cancer cell lines, SiHa and CaSki. 26242403 2015
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 AlteredExpression disease BEFREE PLAP promoter alone or in combination with NFκB DNA response elements was used for expressing shRNA targeting the long control region (LCR) of human papillomavirus (HPV)-16 oncogenes E6 and E7 via transcriptional gene silencing in PLAP expressing cervical cancer cell lines, SiHa and CaSki. 26242403 2015
CUI: C0039538
Disease: Teratoma
Teratoma 		0.010 AlteredExpression disease BEFREE Clinically most informative immunohistochemical markers for GCT, except teratoma, are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related factors, such as placental-like alkaline phosphatase (PLAP), OCT4 (POU5F1), NANOG, AP-2γ (TFAP2C) and LIN28, which are not expressed in normal adult germ cells. 26306513 2015
CUI: C1368898
Disease: Adult Teratoma
Adult Teratoma 		0.010 AlteredExpression disease BEFREE Clinically most informative immunohistochemical markers for GCT, except teratoma, are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related factors, such as placental-like alkaline phosphatase (PLAP), OCT4 (POU5F1), NANOG, AP-2γ (TFAP2C) and LIN28, which are not expressed in normal adult germ cells. 26306513 2015
CUI: C2347762
Disease: Childhood Teratoma
Childhood Teratoma 		0.010 AlteredExpression disease BEFREE Clinically most informative immunohistochemical markers for GCT, except teratoma, are genes expressed in primordial germ cells/gonocytes and embryonic pluripotency-related factors, such as placental-like alkaline phosphatase (PLAP), OCT4 (POU5F1), NANOG, AP-2γ (TFAP2C) and LIN28, which are not expressed in normal adult germ cells. 26306513 2015
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 AlteredExpression disease BEFREE PLAP promoter alone or in combination with NFκB DNA response elements was used for expressing shRNA targeting the long control region (LCR) of human papillomavirus (HPV)-16 oncogenes E6 and E7 via transcriptional gene silencing in PLAP expressing cervical cancer cell lines, SiHa and CaSki. 26242403 2015
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 GeneticVariation group GWASDB Common variant at 16p11.2 conferring risk of psychosis. 23164818 2014
CUI: C3665346
Disease: Unspecified visual loss
Unspecified visual loss 		0.010 GeneticVariation phenotype BEFREE Patients' eyes were divided into 4 groups based on increasing severity of visual loss (DOA1 to DOA4) and were stratified by OPA1 mutation type. 24907432 2014
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.100 GeneticVariation phenotype GWASDB A genome-wide assessment of variability in human serum metabolism. 23281178 2013