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: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy 		0.300 Biomarker disease GENOMICS_ENGLAND 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: C0035021
Disease: Relapsing Fever
Relapsing Fever 		0.110 Biomarker disease HPO
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers 		0.110 Biomarker phenotype HPO
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: 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: 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: 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: 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: C0003862
Disease: Arthralgia
Arthralgia 		0.100 Biomarker phenotype HPO
CUI: C0006625
Disease: Cachexia
Cachexia 		0.100 Biomarker phenotype HPO
CUI: C0010200
Disease: Coughing
Coughing 		0.100 Biomarker phenotype HPO
CUI: C0013604
Disease: Edema
Edema 		0.100 Biomarker phenotype HPO
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive 		0.100 Biomarker disease HPO
CUI: C0015967
Disease: Fever
Fever 		0.100 Biomarker phenotype HPO
CUI: C0018681
Disease: Headache
Headache 		0.100 Biomarker phenotype HPO
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.100 Biomarker phenotype HPO
CUI: C0023518
Disease: Leukocytosis
Leukocytosis 		0.100 Biomarker phenotype HPO
CUI: C0024523
Disease: Malabsorption Syndrome
Malabsorption Syndrome 		0.100 Biomarker group HPO
CUI: C0029443
Disease: Osteomyelitis
Osteomyelitis 		0.100 Biomarker disease HPO
CUI: C0029464
Disease: Osteosclerosis
Osteosclerosis 		0.100 Biomarker disease HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C0038002
Disease: Splenomegaly
Splenomegaly 		0.100 Biomarker phenotype HPO
CUI: C0039103
Disease: Synovitis
Synovitis 		0.100 Biomarker disease HPO