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
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: C4025186
Disease: T-cell lymphoma/leukemia
T-cell lymphoma/leukemia
disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 2 0.010 None 1.000 1 1993 1993
CUI: C0264683
Disease: Coronary artery atheroma
Coronary artery atheroma
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 6 0.010 None 1.000 1 2000 2000
CUI: C0262428
Disease: Collagen-vascular disease
Collagen-vascular disease
disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2010 2010
Respiratory failure without hypercapnia
disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 9 0.010 None 1.000 1 2017 2017
CUI: C0155164
Disease: Conjunctival scar
Conjunctival scar
disease Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality 14 0.030 None 1.000 3 2003 2003
CUI: C1282359
Disease: Ocular Cicatricial Pemphigoid
Ocular Cicatricial Pemphigoid
disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 15 0.020 None 1.000 2 2003 2003
CUI: C0020225
Disease: Hydranencephaly
Hydranencephaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 15 1 0.010 None 1.000 1 2016 2016
CUI: C1333964
Disease: Liver Dysplastic Nodule
Liver Dysplastic Nodule
disease Disease or Syndrome 15 0.010 None 1.000 1 2018 2018
CUI: C2363866
Disease: Traumatic occlusion
Traumatic occlusion
disease Disease or Syndrome 15 0.010 None 1.000 1 2016 2016
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: C1848654
Disease: Broad ribs
Broad ribs
phenotype Finding 18 0.100 None 0
CUI: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
Pemphigoid, Benign Mucous Membrane
disease Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 19 1 0.010 None 1.000 1 2002 2002
CUI: C0016049
Disease: Fibromatosis, Gingival
Fibromatosis, Gingival
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality 20 1 0.010 None 1.000 1 2013 2013
CUI: C1865244
Disease: Shallow orbits
Shallow orbits
phenotype Eye Diseases Finding 20 4 0.100 None 0
CUI: C0015944
Disease: Fetal Membranes, Premature Rupture
Fetal Membranes, Premature Rupture
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 22 21 0.100 None 0
Compression fracture of vertebral column
phenotype Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Wounds and Injuries Pathologic Function 25 1 0.100 None 0
CUI: C1290344
Disease: Nonspecific interstitial pneumonia
Nonspecific interstitial pneumonia
disease Respiratory Tract Diseases Disease or Syndrome 28 1 0.010 None < 0.001 1 2010 2010
CUI: C0079293
Disease: Epidermolysis Bullosa Acquisita
Epidermolysis Bullosa Acquisita
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 32 0.010 None 1.000 1 2003 2003
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: 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: 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
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
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