TUBB6, tubulin beta 6 class V, 84617

N. diseases: 46; 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.
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C3839460
Disease: Nonprogressive
Nonprogressive 		phenotype Finding 24 0.100 None 0
CUI: C0042454
Disease: Velopharyngeal Insufficiency
Velopharyngeal Insufficiency 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 27 6 0.100 None 0
CUI: C0232608
Disease: Nasal regurgitation
Nasal regurgitation 		phenotype Sign or Symptom 14 0.100 None 0
CUI: C3280977
Disease: SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE 		disease Disease or Syndrome 2 3 0.100 None 0 3
CUI: C0235991
Disease: Small for gestational age (disorder)
Small for gestational age (disorder) 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 181 34 0.100 None 1.000 1 1 2010 2010
CUI: C0234518
Disease: Slurred speech
Slurred speech 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 39 10 0.100 None 1.000 1 1 2010 2010
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.100 None 1.000 1 1 2010 2010
CUI: C4317146
Disease: Acid reflux
Acid reflux 		phenotype Finding 50 58 0.100 None 1.000 1 1 2010 2010
CUI: C0232769
Disease: Abnormal gallbladder function
Abnormal gallbladder function 		phenotype Finding 3 1 0.100 None 1.000 1 1 2010 2010
CUI: C0151786
Disease: Muscle Weakness
Muscle Weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 536 87 0.100 None 1.000 1 1 2010 2010
CUI: C0375206
Disease: Hemiplegia/hemiparesis
Hemiplegia/hemiparesis 		disease Disease or Syndrome 112 2 0.100 None 1.000 1 1 2010 2010
CUI: C0428465
Disease: Serum lipids high (finding)
Serum lipids high (finding) 		phenotype Finding 7 7 0.100 None 1.000 1 1 2010 2010
CUI: C0497202
Disease: Abnormal ocular motility
Abnormal ocular motility 		phenotype Finding 45 6 0.100 None 1.000 1 1 2010 2010
CUI: C0948163
Disease: Leukoaraiosis
Leukoaraiosis 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 72 24 0.100 None 1.000 1 1 2010 2010
CUI: C1836150
Disease: Gait imbalance
Gait imbalance 		phenotype Finding 57 24 0.100 None 1.000 1 1 2010 2010
CUI: C1855650
Disease: Birth length less than 3rd percentile
Birth length less than 3rd percentile 		phenotype Finding 21 13 0.100 None 1.000 1 1 2010 2010
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		disease Cardiovascular Diseases Disease or Syndrome 1708 1577 0.100 None 1.000 1 1 2010 2010
CUI: C1853249
Disease: SPINOCEREBELLAR ATAXIA 28
SPINOCEREBELLAR ATAXIA 28 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 4 11 0.100 None 1.000 1 10 2010 2010
CUI: C3489393
Disease: Hiatal Hernia
Hiatal Hernia 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 39 3 0.100 None 1.000 1 1 2010 2010
CUI: C4281993
Disease: Neonatal respiratory distress
Neonatal respiratory distress 		phenotype Respiratory Tract Diseases Finding 64 34 0.100 None 1.000 1 1 2010 2010
CUI: C0043352
Disease: Xerostomia
Xerostomia 		disease Stomatognathic Diseases Finding 56 1 0.100 None 1.000 1 1 2010 2010
CUI: C0042870
Disease: Vitamin D Deficiency
Vitamin D Deficiency 		disease Nutritional and Metabolic Diseases Disease or Syndrome 153 37 0.100 None 1.000 1 1 2010 2010
CUI: C0003862
Disease: Arthralgia
Arthralgia 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom 248 27 0.100 None 1.000 1 1 2010 2010
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders 		group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 1.000 1 1 2010 2010