PRF1, perforin 1, 5551

N. diseases: 163; N. variants: 31
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: C0853398
Disease: Endocarditis enterococcal
Endocarditis enterococcal
disease Disease or Syndrome 1 0.010 None 1.000 1 1995 1995
Fatal post-viral neurodegenerative disorder
disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
CUI: C0851881
Disease: Enterococcal infection
Enterococcal infection
disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased
phenotype Nutritional and Metabolic Diseases Finding 5 6 0.100 None 0 1
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 25 0.920 strong 1.000 35 24 1989 2017
CUI: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.300 None 0
CUI: C1850534
Disease: Edema, generalized
Edema, generalized
phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Cardiovascular Diseases Pathologic Function 12 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 0.100 None 0
CUI: C0348890
Disease: Aplastic anemia, idiopathic
Aplastic anemia, idiopathic
disease Hemic and Lymphatic Diseases Disease or Syndrome 13 0.300 None 1.000 1 2007 2007
CUI: C0035317
Disease: Retinal Hemorrhage
Retinal Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Disease or Syndrome 16 86 0.100 None 0
CUI: C0741494
Disease: Elevated total bilirubin
Elevated total bilirubin
phenotype Finding 17 1 0.100 None 0
CUI: C0858867
Disease: Reticulocytopenia
Reticulocytopenia
phenotype Finding 17 0.100 None 0
CUI: C0024304
Disease: Lymphoma, Mixed-Cell
Lymphoma, Mixed-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 0
CUI: C0079757
Disease: Diffuse Mixed-Cell Lymphoma
Diffuse Mixed-Cell Lymphoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 21 0.300 None 0
CUI: C0014236
Disease: Endophthalmitis
Endophthalmitis
disease Infections; Eye Diseases Disease or Syndrome 22 0.030 None 1.000 3 1994 2019
CUI: C0002940
Disease: Aneurysm
Aneurysm
disease Cardiovascular Diseases Pathologic Function 22 36 0.010 None 1.000 1 2005 2005
Chronic Active EBV Infection of T-and NK-Cell Type, Systemic Form
disease Infections Disease or Syndrome 22 0.010 None 1.000 1 2015 2015
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin
phenotype Finding 23 1 0.100 None 0 1
CUI: C0015403
Disease: Eye Infection
Eye Infection
group Infections; Eye Diseases Disease or Syndrome 24 0.010 None 1.000 1 2019 2019
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 24 4 0.100 None 0
CUI: C0079741
Disease: Lymphoma, Intermediate-Grade
Lymphoma, Intermediate-Grade
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 24 2 0.300 None 0
CUI: C0024306
Disease: Lymphoma, Undifferentiated
Lymphoma, Undifferentiated
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.300 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
CUI: C0151872
Disease: Prothrombin time increased
Prothrombin time increased
phenotype Hemic and Lymphatic Diseases Finding 30 0.100 None 0
CUI: C0151857
Disease: Pleocytosis
Pleocytosis
disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome 31 0.100 None 0