TBCK, TBC1 domain containing kinase, 93627

N. diseases: 85; N. variants: 11
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.
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
disease Disease or Syndrome 1 11 0.700 strong 1.000 8 11 2008 2017
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.400 strong 1.000 1 1 2016 2016
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.300 None 0
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 2 2018 2018
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.110 None 1.000 1 2018 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.110 None 1.000 1 2 2018 2018
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 0.100 None 0 1
CUI: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0 1
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0 1
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow
phenotype Finding 11 6 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge
phenotype Finding 180 8 0.100 None 0 1
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 0
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.100 None 0 1
CUI: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries
phenotype Finding 2 1 0.100 None 0 1
CUI: C1836830
Disease: Developmental regression
Developmental regression
disease Mental Disorders Disease or Syndrome 333 80 0.100 None 0
CUI: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 0.100 None 0 1
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 0.100 None 0 1
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1868571
Disease: Highly arched eyebrow
Highly arched eyebrow
phenotype Finding 141 14 0.100 None 0
Abnormality of the periventricular white matter
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0 1