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: C0241157
Disease: pustule
pustule 		0.100 Biomarker phenotype HPO
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease 		0.100 Biomarker group HPO
CUI: C0271901
Disease: Microcytic hypochromic anemia (disorder)
Microcytic hypochromic anemia (disorder) 		0.100 Biomarker disease HPO
CUI: C0332563
Disease: Papule
Papule 		0.100 Biomarker phenotype HPO
CUI: C0333068
Disease: Flexion contracture
Flexion contracture 		0.100 Biomarker disease HPO
CUI: C0456070
Disease: Growth delay
Growth delay 		0.100 Biomarker phenotype HPO
CUI: C0702166
Disease: Acne
Acne 		0.100 Biomarker disease HPO
CUI: C0949116
Disease: Congenital hypoplastic anemia
Congenital hypoplastic anemia 		0.100 Biomarker disease HPO
CUI: C1390474
Disease: Increased susceptibility to fractures
Increased susceptibility to fractures 		0.100 Biomarker phenotype HPO
CUI: C1519353
Disease: Skin Papule
Skin Papule 		0.100 Biomarker phenotype HPO
CUI: C1838662
Disease: Metaphyseal irregularity
Metaphyseal irregularity 		0.100 Biomarker phenotype HPO
CUI: C1963077
Disease: Bone Pain, CTCAE 3.0
Bone Pain, CTCAE 3.0 		0.100 Biomarker phenotype HPO
CUI: C1963165
Disease: Malabsorption, CTCAE
Malabsorption, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C3714745
Disease: Malabsorption
Malabsorption 		0.100 Biomarker phenotype HPO
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis 		0.100 Biomarker disease HPO
CUI: C4021634
Disease: Abnormality of bone marrow cell morphology
Abnormality of bone marrow cell morphology 		0.100 Biomarker disease HPO
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment 		0.100 Biomarker phenotype HPO
CUI: C4554063
Disease: Bone Pain, CTCAE 5.0
Bone Pain, CTCAE 5.0 		0.100 Biomarker phenotype HPO
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 Biomarker disease GENOMICS_ENGLAND 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: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		0.400 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: 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: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia 		0.310 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: 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