LPIN2, lipin 2, 9663

N. diseases: 81; N. variants: 10
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C1864997
Disease: Majeed syndrome
Majeed syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infections; Musculoskeletal Diseases; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 15 6 0.770 strong 1.000 10 6 2005 2019
Iron-Refractory Iron Deficiency Anemia
disease Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 36 0.400 strong 1.000 2 2005 2013
CUI: C0002876
Disease: Congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 24 13 0.310 strong 1.000 2 2005 2013
CUI: C1275685
Disease: Avellino corneal dystrophy
Avellino corneal dystrophy
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 115 14 0.300 strong 1.000 2 2005 2013
CUI: C3860213
Disease: Autoinflammatory disorder
Autoinflammatory disorder
disease Disease or Syndrome 60 4 0.300 strong 1.000 1 2017 2017
Hereditary Autoinflammatory Diseases
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 1 0.300 strong 1.000 1 2007 2007
CUI: C0035021
Disease: Relapsing Fever
Relapsing Fever
disease Infections Disease or Syndrome 48 2 0.110 None 1.000 1 2019 2019
CUI: C3714772
Disease: Recurrent fevers
Recurrent fevers
phenotype Sign or Symptom 48 4 0.110 None 1.000 1 2019 2019
CUI: C0429087
Disease: Electrocardiogram: P-R interval
Electrocardiogram: P-R interval
phenotype Finding 57 138 0.100 None 1.000 1 1 2013 2013
RDW - Red blood cell distribution width result
phenotype Laboratory or Test Result 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2013 2013
Red cell distribution width determination
phenotype Laboratory Procedure 593 988 0.100 None 1.000 1 1 2019 2019
CUI: C0004096
Disease: Asthma
Asthma
disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.100 None 1.000 1 1 2013 2013
CUI: C0332563
Disease: Papule
Papule
phenotype Pathological Conditions, Signs and Symptoms Finding 76 131 0.100 None 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
Microcytic hypochromic anemia (disorder)
disease Hemic and Lymphatic Diseases Disease or Syndrome 25 3 0.100 None 0
CUI: C0268731
Disease: Renal glomerular disease
Renal glomerular disease
group Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 221 7 0.100 None 0
CUI: C0241157
Disease: pustule
pustule
phenotype Skin and Connective Tissue Diseases Finding 18 0.100 None 0
CUI: C0239937
Disease: Microscopic hematuria
Microscopic hematuria
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 15 4 0.100 None 0
CUI: C0235896
Disease: Pulmonary Infiltrate
Pulmonary Infiltrate
phenotype Respiratory Tract Diseases Finding 43 0.100 None 0
CUI: C0231528
Disease: Myalgia
Myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 226 22 0.100 None 0
CUI: C0151825
Disease: Bone pain
Bone pain
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 139 0.100 None 0
CUI: C4521256
Disease: Glomerulopathy Assessment
Glomerulopathy Assessment
phenotype Diagnostic Procedure 84 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
Abnormality of bone marrow cell morphology
disease Anatomical Abnormality 15 0.100 None 0