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: C0079740
Disease: High Grade Lymphoma (neoplasm)
High Grade Lymphoma (neoplasm) 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 62 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: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 733 197 0.300 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: C0024302
Disease: Reticulosarcoma
Reticulosarcoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 80 2 0.300 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: C0079747
Disease: Low Grade Lymphoma (neoplasm)
Low Grade Lymphoma (neoplasm) 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 39 0.300 None 0
CUI: C0018991
Disease: Hemiplegia
Hemiplegia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 41 6 0.100 None 0
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 4 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: 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: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 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: C3714542
Disease: Lymphoma, Diffuse
Lymphoma, Diffuse 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 49 0.300 None 0
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
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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.400 None 0 1
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 462 79 0.300 None 0
CUI: C0009421
Disease: Comatose
Comatose 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 78 1 0.100 None 0
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0
CUI: C0813230
Disease: Serum triglycerides increased
Serum triglycerides increased 		phenotype Nutritional and Metabolic Diseases Finding 5 6 0.100 None 0 1