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: 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: C4479631
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES
NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MICROCEPHALY, SPASTICITY, AND BRAIN ANOMALIES 		0.700 CausalMutation disease CLINVAR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASDB Common variants at VRK2 and TCF4 conferring risk of schizophrenia. 21791550 2011
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 Biomarker disease PSYGENET PLAA has not previously been described as a susceptibility gene, but 9p21 is implied as a schizophrenia linkage region. 20185149 2010
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 Biomarker disease BEFREE PLAA has not previously been described as a susceptibility gene, but 9p21 is implied as a schizophrenia linkage region. 20185149 2010
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: C0021368
Disease: Inflammation
Inflammation 		0.300 Biomarker phenotype CTD_human Prostaglandin levels in stimulated macrophages are controlled by phospholipase A2-activating protein and by activation of phospholipase C and D. 11094054 2001
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: C0036572
Disease: Seizures
Seizures 		0.110 Biomarker phenotype HPO
CUI: C0270612
Disease: Leukoencephalopathy
Leukoencephalopathy 		0.110 Biomarker group HPO
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: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 GeneticVariation group GWASDB Common variant at 16p11.2 conferring risk of psychosis. 23164818 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
CUI: C0003578
Disease: Apnea
Apnea 		0.100 Biomarker phenotype HPO
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		0.100 Biomarker group HPO
CUI: C0013421
Disease: Dystonia
Dystonia 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO