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: C1611743
Disease: Familial (FPAH)
Familial (FPAH)
disease Disease or Syndrome 1075 276 0.020 None 1.000 2 1 2009 2015
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
disease Disease or Syndrome 467 14 0.010 None 1.000 1 2017 2017
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia
disease Neoplastic Process 860 154 0.010 None 1.000 1 1 2011 2011
CUI: C0853398
Disease: Endocarditis enterococcal
Endocarditis enterococcal
disease Disease or Syndrome 1 0.010 None 1.000 1 1995 1995
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2018 2018
Human immunodeficiency virus (HIV) II infection category B1
disease Disease or Syndrome 985 56 0.010 None 1.000 1 2019 2019
CUI: C4048329
Disease: Immunosuppression
Immunosuppression
disease Disease or Syndrome 632 9 0.010 None 1.000 1 2015 2015
CUI: C0232744
Disease: Decreased liver function
Decreased liver function
phenotype Finding 59 5 0.100 None 0 1
CUI: C0241013
Disease: Increased serum ferritin
Increased serum ferritin
phenotype Finding 23 1 0.100 None 0 1
CUI: C0553681
Disease: Hypofibrinogenemia
Hypofibrinogenemia
disease Disease or Syndrome 60 14 0.100 None 0 1
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 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: C0876991
Disease: Histiocytosis haematophagic
Histiocytosis haematophagic
disease Disease or Syndrome 36 2 0.100 None 0
CUI: C1806780
Disease: Increased CSF protein
Increased CSF protein
phenotype Finding 26 1 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity
phenotype Finding 64 5 0.100 None 0
CUI: C4552810
Disease: Irritability, CTCAE
Irritability, CTCAE
phenotype Finding 140 0.100 None 0
CUI: C4554651
Disease: Generalized Edema, CTCAE
Generalized Edema, CTCAE
phenotype Finding 12 0.100 None 0
CUI: C0022107
Disease: Irritable Mood
Irritable Mood
phenotype Behavior and Behavior Mechanisms Finding 142 1 0.100 None 0
CUI: C2700617
Disease: Irritation - emotion
Irritation - emotion
phenotype Behavior and Behavior Mechanisms Mental Process 147 14 0.100 None 0
CUI: C0014118
Disease: Endocarditis
Endocarditis
disease Cardiovascular Diseases Disease or Syndrome 56 0.040 None 0.750 4 1994 2012
CUI: C0002940
Disease: Aneurysm
Aneurysm
disease Cardiovascular Diseases Pathologic Function 22 36 0.010 None 1.000 1 2005 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None 1.000 1 2012 2012
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 8 1 2005 2015
CUI: C4316812
Disease: Fibrinogen Deficiency
Fibrinogen Deficiency
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 56 4 0.100 None 0