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: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1293 222 0.010 None 1.000 1 1 2011 2011
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		disease Neoplasms Neoplastic Process 651 21 0.010 None 1.000 1 2018 2018
CUI: C0405580
Disease: Adrenal cortical hypofunction
Adrenal cortical hypofunction 		disease Endocrine System Diseases Disease or Syndrome 52 5 0.010 None 1.000 1 2018 2018
CUI: C0001623
Disease: Adrenal gland hypofunction
Adrenal gland hypofunction 		phenotype Endocrine System Diseases Disease or Syndrome 90 10 0.010 None 1.000 1 2018 2018
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: C1332206
Disease: Adult Lymphoma
Adult Lymphoma 		disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1169 66 0.010 None 1.000 1 2015 2015
CUI: C0151603
Disease: Anasarca
Anasarca 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 41 0.100 None 0
CUI: C0002871
Disease: Anemia
Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 847 94 0.100 None 0
CUI: C0002940
Disease: Aneurysm
Aneurysm 		disease Cardiovascular Diseases Pathologic Function 22 36 0.010 None 1.000 1 2005 2005
CUI: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 238 30 0.400 None 0 1
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: C0004096
Disease: Asthma
Asthma 		disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome 2096 1536 0.200 None 1.000 1 2011 2011
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.110 None 1.000 1 2013 2013
CUI: C1859592
Disease: ATRICHIA WITH PAPULAR LESIONS
ATRICHIA WITH PAPULAR LESIONS 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2018 2018
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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 1 2015 2015
CUI: C1328840
Disease: Autoimmune Lymphoproliferative Syndrome
Autoimmune Lymphoproliferative Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 65 22 0.020 None 1.000 2 2004 2008
CUI: C0079731
Disease: B-Cell Lymphomas
B-Cell Lymphomas 		group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 1408 42 0.010 None 1.000 1 2004 2004
CUI: C0004610
Disease: Bacteremia
Bacteremia 		disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 233 7 0.010 None < 0.001 1 1995 1995
CUI: C0004623
Disease: Bacterial Infections
Bacterial Infections 		group Infections Disease or Syndrome 616 17 0.010 None 1.000 1 2019 2019
CUI: C0085166
Disease: Bacterial Vaginosis
Bacterial Vaginosis 		disease Female Urogenital Diseases and Pregnancy Complications; Infections Disease or Syndrome 73 15 0.010 None 1.000 1 2013 2013
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2130 281 0.010 None 1.000 1 2018 2018
CUI: C1855710
Disease: Bone marrow hypocellularity
Bone marrow hypocellularity 		phenotype Finding 64 5 0.100 None 0
CUI: C0006271
Disease: Bronchiolitis
Bronchiolitis 		disease Infections; Respiratory Tract Diseases Disease or Syndrome 118 32 0.010 None 1.000 1 2017 2017
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 2104 309 0.010 None 1.000 1 2018 2018