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.
HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 2
disease Hemic and Lymphatic Diseases Disease or Syndrome 9 25 0.920 strong 1.000 35 24 1989 2017
CUI: C0024299
Disease: Lymphoma
Lymphoma
group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1548 91 0.620 strong 1.000 2 2008 2015
Familial Hemophagocytic Lymphocytosis
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 35 6 0.400 None 0.966 29 3 2001 2018
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.400 None 0 1
CUI: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.310 None 1.000 1 1 2016 2016
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease
disease Digestive System Diseases Disease or Syndrome 1058 222 0.300 None 1.000 1 2014 2014
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
Nonalcoholic Steatohepatitis
disease Digestive System Diseases Disease or Syndrome 434 17 0.300 None 1.000 1 2014 2014
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1112 395 0.300 None 1.000 1 2009 2009
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
Fatal post-viral neurodegenerative disorder
disease Nervous System Diseases Disease or Syndrome 1 0.300 None 1.000 1 2013 2013
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: 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: C0079770
Disease: Lymphoma, Small Noncleaved-Cell
Lymphoma, Small Noncleaved-Cell
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 32 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: C0024302
Disease: Reticulosarcoma
Reticulosarcoma
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 80 2 0.300 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: 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: 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: C0024306
Disease: Lymphoma, Undifferentiated
Lymphoma, Undifferentiated
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 25 0.300 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: C0178416
Disease: Hypoplastic anemia
Hypoplastic anemia
disease Hemic and Lymphatic Diseases Disease or Syndrome 12 0.300 None 0
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
disease Immune System Diseases; Nervous System Diseases Disease or Syndrome 1800 1022 0.220 None 1.000 5 2 1998 2013
Diabetes Mellitus, Insulin-Dependent
disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 1675 954 0.210 None 1.000 2 3 2000 2008
Glomerulonephritis, Membranoproliferative
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Immune System Diseases Disease or Syndrome 57 3 0.200 None 1.000 1 2000 2000