SERPINH1, serpin family H member 1, 871

N. diseases: 148; N. variants: 8
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: C3151211
Disease: OSTEOGENESIS IMPERFECTA, TYPE X
OSTEOGENESIS IMPERFECTA, TYPE X 		disease Disease or Syndrome 1 3 0.910 strong 1.000 2 3 2010 2018
CUI: C0268362
Disease: Osteogenesis imperfecta type III (disorder)
Osteogenesis imperfecta type III (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome 18 67 0.500 strong 1.000 2 2010 2011
CUI: C0729264
Disease: Preterm premature rupture of membranes (disorder)
Preterm premature rupture of membranes (disorder) 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 2 2 0.500 strong 1.000 1 2010 2010
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1179 64 0.360 None 0.857 7 2013 2019
CUI: C0029434
Disease: Osteogenesis Imperfecta
Osteogenesis Imperfecta 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome; Congenital Abnormality 90 91 0.300 None 1.000 15 1 1998 2019
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 2 2008 2014
CUI: C0740376
Disease: Middle Cerebral Artery Thrombosis
Middle Cerebral Artery Thrombosis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751847
Disease: Embolic Infarction, Middle Cerebral Artery
Embolic Infarction, Middle Cerebral Artery 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751848
Disease: Thrombotic Infarction, Middle Cerebral Artery
Thrombotic Infarction, Middle Cerebral Artery 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751849
Disease: Right Middle Cerebral Artery Infarction
Right Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751845
Disease: Middle Cerebral Artery Embolus
Middle Cerebral Artery Embolus 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0740392
Disease: Infarction, Middle Cerebral Artery
Infarction, Middle Cerebral Artery 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 145 0.300 None 1.000 1 2002 2002
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0.300 None 1.000 1 2002 2002
CUI: C0035222
Disease: Respiratory Distress Syndrome, Adult
Respiratory Distress Syndrome, Adult 		disease Respiratory Tract Diseases Disease or Syndrome 434 60 0.300 None 1.000 1 2014 2014
CUI: C0022116
Disease: Ischemia
Ischemia 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 103 0.300 None 1.000 1 2009 2009
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 1182 189 0.300 None 1.000 1 2014 2014
CUI: C0238281
Disease: Middle Cerebral Artery Syndrome
Middle Cerebral Artery Syndrome 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0751846
Disease: Left Middle Cerebral Artery Infarction
Left Middle Cerebral Artery Infarction 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 35 0.300 None 1.000 1 2002 2002
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 10 2002 2018
CUI: C0005890
Disease: Body Height
Body Height 		phenotype Organism Attribute 1903 3972 0.100 None 1.000 8 4 2010 2019
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 2 3 2013 2018
CUI: C0489786
Disease: Height
Height 		phenotype Organism Attribute 249 517 0.100 None 1.000 2 2 2010 2012
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		phenotype Laboratory Procedure 160 355 0.100 None 1.000 1 1 2017 2017
CUI: C0241703
Disease: High pitched voice
High pitched voice 		phenotype Finding 35 1 0.100 None 0
CUI: C1858085
Disease: Malar flattening
Malar flattening 		disease Anatomical Abnormality 190 12 0.100 None 0