TUBB1, tubulin beta 1 class VI, 81027

N. diseases: 22; N. variants: 14
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.
Macrothrombocytopenia, Autosomal Dominant, Tubb1-Related
disease Hemic and Lymphatic Diseases Disease or Syndrome 1 1 0.700 None 1.000 2 1 2009 2014
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome
disease Cardiovascular Diseases Disease or Syndrome 440 139 0.300 None 1.000 1 2011 2011
Autosomal dominant macrothrombocytopenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Disease or Syndrome 9 0.300 None 1.000 1 2009 2009
CUI: C2751260
Disease: Macrothrombocytopenia
Macrothrombocytopenia
disease Hemic and Lymphatic Diseases Disease or Syndrome 34 31 0.130 None 1.000 4 4 2009 2019
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
phenotype Laboratory Procedure 265 457 0.100 None 1.000 2 3 2016 2018
Platelet mean volume determination (procedure)
phenotype Laboratory Procedure 223 371 0.100 None 1.000 1 2 2016 2016
Platelet Component Distribution Width Measurement
phenotype Laboratory Procedure 134 200 0.100 None 1.000 1 5 2016 2016
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure
phenotype Clinical Attribute 843 1931 0.100 None 1.000 1 1 2019 2019
CUI: C0010308
Disease: Congenital Hypothyroidism
Congenital Hypothyroidism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome 94 48 0.100 None 0 3
CUI: C0040034
Disease: Thrombocytopenia
Thrombocytopenia
phenotype Hemic and Lymphatic Diseases Disease or Syndrome 592 110 0.030 None 1.000 3 2013 2019
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases
group Cardiovascular Diseases Disease or Syndrome 1756 711 0.020 None 1.000 2 2 2005 2007
CUI: C0040053
Disease: Thrombosis
Thrombosis
phenotype Cardiovascular Diseases Pathologic Function 98 0.010 None 1.000 1 2005 2005
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.010 None < 0.001 1 2015 2015
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy
group Nervous System Diseases Disease or Syndrome 351 81 0.010 None 1.000 1 2014 2014
CUI: C2937358
Disease: Cerebral Hemorrhage
Cerebral Hemorrhage
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function 122 78 0.010 None 1.000 1 2007 2007
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 429 74 0.010 None 1.000 1 2016 2016
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1658 591 0.010 None 1.000 1 2 2007 2007
CUI: C1854520
Disease: SEBASTIAN SYNDROME
SEBASTIAN SYNDROME
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 42 13 0.010 None 1.000 1 2018 2018
CUI: C1563716
Disease: Thyroid Dysgenesis
Thyroid Dysgenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases Congenital Abnormality 24 5 0.010 None 1.000 1 2018 2018
CUI: C0040015
Disease: Thrombasthenia
Thrombasthenia
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 48 61 0.010 None 1.000 1 2019 2019
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases
group Nervous System Diseases Disease or Syndrome 549 69 0.010 None 1.000 1 2014 2014