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 GeneticVariation disease UNIPROT PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins. 28413018 2017
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.410 GeneticVariation disease GWASDB Common variants at VRK2 and TCF4 conferring risk of schizophrenia. 21791550 2011
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: C0024314
Disease: Lymphoproliferative Disorders
Lymphoproliferative Disorders 		0.100 GeneticVariation group CLINVAR
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		0.100 GeneticVariation group GWASDB Common variant at 16p11.2 conferring risk of psychosis. 23164818 2014
CUI: C0221373
Disease: Claw hand
Claw hand 		0.100 GeneticVariation disease CLINVAR
CUI: C0265554
Disease: Ectrodactyly
Ectrodactyly 		0.100 GeneticVariation disease CLINVAR
CUI: C0432028
Disease: Split foot
Split foot 		0.100 GeneticVariation disease CLINVAR
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		0.100 GeneticVariation disease CLINVAR
CUI: C0497156
Disease: Lymphadenopathy
Lymphadenopathy 		0.100 GeneticVariation phenotype CLINVAR
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: C0557874
Disease: Global developmental delay
Global developmental delay 		0.100 GeneticVariation disease CLINVAR
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: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.100 GeneticVariation phenotype CLINVAR
CUI: C0025202
Disease: melanoma
melanoma 		0.020 GeneticVariation disease BEFREE Cloning of the human phospholipase A2 activating protein (hPLAP) gene on the chromosome 9p21 melanoma deleted region. 10571045 1999
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: 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: 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: 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