SERPINF1, serpin family F member 1, 5176

N. diseases: 294; N. variants: 15
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.
Increased susceptibility to fractures
phenotype Finding 42 5 0.100 None 0
Hip joint varus deformity - observation
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding 49 2 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: C1856599
Disease: Beaking of vertebral bodies
Beaking of vertebral bodies
phenotype Finding 13 0.100 None 0
CUI: C0409495
Disease: Protrusio acetabuli
Protrusio acetabuli
disease Anatomical Abnormality 10 2 0.100 None 0
CUI: C1856087
Disease: Biconcave vertebral bodies
Biconcave vertebral bodies
phenotype Finding 16 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0398620
Disease: Alpha-2-antiplasmin deficiency
Alpha-2-antiplasmin deficiency
disease Disease or Syndrome 2 0.010 None 1.000 1 1982 1982
CUI: C0272274
Disease: Familial hemorrhagic diathesis
Familial hemorrhagic diathesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 2 0.010 None 1.000 1 1982 1982
CUI: C0019243
Disease: Angioedemas, Hereditary
Angioedemas, Hereditary
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 54 7 0.020 None 1.000 2 1984 1985
CUI: C0019087
Disease: Hemorrhagic Disorders
Hemorrhagic Disorders
group Hemic and Lymphatic Diseases Disease or Syndrome 30 3 0.020 None 1.000 2 1982 1987
Cerebral hemorrhage with amyloidosis, hereditary, Dutch type
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 20 2 0.010 None 1.000 1 1992 1992
CUI: C0206663
Disease: Neuroectodermal Tumor, Primitive
Neuroectodermal Tumor, Primitive
disease Neoplasms Neoplastic Process 184 6 0.010 None < 0.001 1 1997 1997
CUI: C4024896
Disease: Motor neuron atrophy
Motor neuron atrophy
disease Disease or Syndrome 138 21 0.010 None 1.000 1 1999 1999
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis
disease Eye Diseases Disease or Syndrome 83 109 0.010 None 1.000 1 1999 1999
CUI: C0456909
Disease: Blindness
Blindness
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 393 34 0.010 None 1.000 1 1999 1999
CUI: C0220611
Disease: Childhood Rhabdomyosarcoma
Childhood Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 517 12 0.010 None < 0.001 1 2001 2001
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 565 20 0.010 None < 0.001 1 2001 2001
CUI: C0279550
Disease: Adult Rhabdomyosarcoma
Adult Rhabdomyosarcoma
disease Neoplasms Neoplastic Process 509 12 0.010 None < 0.001 1 2001 2001
CUI: C4722099
Disease: High grade glioma
High grade glioma
disease Neoplasms Neoplastic Process 190 15 0.010 None 1.000 1 2003 2003
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
disease Neoplasms Neoplastic Process 2507 257 0.010 None 1.000 1 2003 2003
CUI: C1519666
Disease: Tumor-Associated Vasculature
Tumor-Associated Vasculature
disease Acquired Abnormality 84 0.010 None 1.000 1 2003 2003
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 2003 2003
CUI: C1997217
Disease: Low grade glioma
Low grade glioma
disease Neoplasms Neoplastic Process 85 10 0.010 None 1.000 1 2003 2003
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 586 125 0.010 None 1.000 1 2003 2003