LPIN2, lipin 2, 9663

N. diseases: 81; N. variants: 10
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE Mutations in human LPIN2 produce a disease known as Majeed syndrome, the clinical manifestations of which are ameliorated by strategies that block IL-1β or its receptor. 28031477 2017
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. 15994876 2005
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease UNIPROT We conclude that homozygous mutations in LPIN2 result in Majeed syndrome. 15994876 2005
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome 		0.770 GeneticVariation disease BEFREE Mutations in the LPIN2 gene located on the short arm of chromosome 18 have been identified as being responsible for Majeed syndrome. 31727123 2019
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.310 GeneticVariation disease BEFREE Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever 		0.110 GeneticVariation disease BEFREE Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 31727123 2019
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.110 GeneticVariation phenotype BEFREE Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 31727123 2019
CUI: C0004096
Disease: Asthma
Asthma 		0.100 GeneticVariation disease GWASDB Genome-wide association study of body mass index in 23 000 individuals with and without asthma. 23517042 2013
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval 		0.100 GeneticVariation phenotype GWASCAT Genome wide association study (GWAS) of Chagas cardiomyopathy in Trypanosoma cruzi seropositive subjects. 24324551 2013
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.100 GeneticVariation phenotype GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
CUI: C1305855
Disease: Body mass index
Body mass index 		0.100 GeneticVariation phenotype GWASCAT Genome-wide association study of body mass index in 23 000 individuals with and without asthma. 23517042 2013
CUI: C0028754
Disease: Obesity
Obesity 		0.030 GeneticVariation disease BEFREE This SNP is located at the 3' untranslated region of the LPIN2 gene, which is a plausible candidate for type 2 diabetes and obesity. 17804763 2007
CUI: C0410422
Disease: Chronic multifocal osteomyelitis
Chronic multifocal osteomyelitis 		0.020 GeneticVariation disease BEFREE Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). 15994876 2005
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 GeneticVariation disease BEFREE Several studies have demonstrated that polymorphisms in the LPIN1 and LPIN2 genes are associated with metabolic disease traits, including insulin sensitivity, diabetes, blood pressure and response to thiazolidinedione drugs. 19369868 2009
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 GeneticVariation group BEFREE Several studies have demonstrated that polymorphisms in the LPIN1 and LPIN2 genes are associated with metabolic disease traits, including insulin sensitivity, diabetes, blood pressure and response to thiazolidinedione drugs. 19369868 2009
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation disease BEFREE This SNP is located at the 3' untranslated region of the LPIN2 gene, which is a plausible candidate for type 2 diabetes and obesity. 17804763 2007
CUI: C0023530
Disease: Leukopenia
Leukopenia 		0.010 GeneticVariation disease BEFREE Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 31727123 2019
CUI: C0027092
Disease: Myopia
Myopia 		0.010 GeneticVariation disease BEFREE Direct sequencing of the LPIN2 gene revealed 11 single nucleotide polymorphisms (SNPs) in myopia and unaffected individuals.Eight of them were novel. 15862761 2005
CUI: C0027947
Disease: Neutropenia
Neutropenia 		0.010 GeneticVariation disease BEFREE Compound heterozygous LPIN2 pathogenic variants in a patient with Majeed syndrome with recurrent fever and severe neutropenia: case report. 31727123 2019
CUI: C0031069
Disease: Familial Mediterranean Fever
Familial Mediterranean Fever 		0.010 GeneticVariation disease BEFREE Genetic testing revealed an apparent homozygote p.S734L LPIN2 mutation in two siblings, a heterozygote p.M694V MEFV mutation in one patient with familial Mediterranean fever and heterozygote p.Q219H PSTPIPI variant of unknown significance in one patient. 27860302 2017
CUI: C0221032
Disease: Familial generalized lipodystrophy
Familial generalized lipodystrophy 		0.010 GeneticVariation disease BEFREE We discuss known inborn errors of CTGM, including deficiencies of: AGPAT2 (a form of generalized lipodystrophy), LPIN1 (childhood rhabdomyolysis), LPIN2 (an inflammatory condition, Majeed syndrome, described elsewhere in this issue), DGAT1 (protein loosing enteropathy), perilipin 1 (partial lipodystrophy), CGI-58 (gene ABHD5, neutral lipid storage disease (NLSD) with ichthyosis and "Jordan's anomaly" of vacuolated polymorphonuclear leukocytes), adipose triglyceride lipase (ATGL, gene PNPLA2, NLSD with myopathy, cardiomyopathy and Jordan's anomaly), hormone-sensitive lipase (HSL, gene LIPE, hypertriglyceridemia, and insulin resistance). 25300978 2015
CUI: C0263859
Disease: Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome
Synovitis, Acne, Pustulosis, Hyperostosis, and Osteitis Syndrome 		0.010 GeneticVariation disease BEFREE We found no association between PSTPIP2, NOD2, and LPIN2 variants and the SAPHO syndrome. 20032092 2010
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.010 GeneticVariation disease BEFREE Evaluation of Lipin 2 as a candidate gene for autosomal dominant 1 high-grade myopia. 15862761 2005
CUI: C1142272
Disease: Neutrophilic dermatosis
Neutrophilic dermatosis 		0.010 GeneticVariation disease BEFREE Majeed syndrome is an autosomal recessive disorder characterised by the triad of chronic recurrent multifocal osteomyelitis, congenital dyserythropoietic anaemia and a neutrophilic dermatosis that is caused by mutations in LPIN2.Long-term outcome is poor. 23087183 2013