KLKB1, kallikrein B1, 3818

N. diseases: 88; N. variants: 63
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: C0240671
Disease: Partial thromboplastin time increased (finding)
Partial thromboplastin time increased (finding) 		phenotype Finding 18 1 0.100 None 0
CUI: C1859486
Disease: BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY
BIETTI CRYSTALLINE CORNEORETINAL DYSTROPHY 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 12 36 0.100 None 0 6
CUI: C0272340
Disease: High molecular weight kininogen deficiency
High molecular weight kininogen deficiency 		disease Hemic and Lymphatic Diseases Disease or Syndrome 4 3 0.010 None 1.000 1 1977 1977
CUI: C0265334
Disease: Pachyonychia Congenita
Pachyonychia Congenita 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 18 7 0.010 None 1.000 1 1996 1996
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		group Digestive System Diseases Disease or Syndrome 1577 605 0.200 None 1.000 1 1996 1996
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 20 35 0.010 None 1.000 1 1996 1996
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		group Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 2780 385 0.010 None 1.000 1 1999 1999
CUI: C0870082
Disease: Hyperkeratosis
Hyperkeratosis 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 176 19 0.010 None 1.000 1 1999 1999
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.010 None 1.000 1 1999 1999
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 666 194 0.020 None 1.000 2 2 1998 2000
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 827 425 0.020 None 1.000 2 2 1998 2000
CUI: C1384666
Disease: hearing impairment
hearing impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 740 337 0.010 None 1.000 1 2001 2001
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.200 None 1.000 1 2003 2003
CUI: C0014356
Disease: Enterocolitis
Enterocolitis 		disease Digestive System Diseases Disease or Syndrome 40 2 0.210 None 1.000 2 1998 2005
CUI: C0432475
Disease: XX males
XX males 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 32 0.010 None 1.000 1 2007 2007
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		disease Cardiovascular Diseases Disease or Syndrome 445 293 0.010 None 1.000 1 2 2007 2007
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4173 1142 0.010 None 1.000 1 2008 2008
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 4081 1204 0.010 None 1.000 1 2008 2008
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 3894 981 0.010 None 1.000 1 2008 2008
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		disease Cardiovascular Diseases Disease or Syndrome 230 93 0.020 None 1.000 2 2008 2009
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		disease Nutritional and Metabolic Diseases Disease or Syndrome 1125 591 0.010 None 1.000 1 2010 2010
CUI: C0495706
Disease: elevated blood glucose level
elevated blood glucose level 		phenotype Finding 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C0337438
Disease: Glucose measurement
Glucose measurement 		phenotype Laboratory Procedure 89 111 0.100 None 1.000 1 1 2011 2011
CUI: C1861172
Disease: Venous Thromboembolism
Venous Thromboembolism 		phenotype Cardiovascular Diseases Disease or Syndrome 378 408 0.110 None 1.000 2 2 2011 2012
CUI: C0162701
Disease: Polysomnography
Polysomnography 		phenotype Diagnostic Procedure 119 249 0.100 None 1.000 1 3 2012 2012