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.
Squamous cell carcinoma of the head and neck
disease Neoplasms Neoplastic Process 1543 348 0.300 None 0
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.300 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
phenotype Finding 100 26 0.100 None 0
CUI: C1842364
Disease: Central hypotonia
Central hypotonia
phenotype Finding 50 25 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: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
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: C1854882
Disease: Absent speech
Absent speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 232 72 0.100 None 0 1
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril
phenotype Finding 407 35 0.100 None 0
CUI: C1839767
Disease: Tented upper lip vermilion
Tented upper lip vermilion
phenotype Finding 79 8 0.100 None 0 1
CUI: C1839758
Disease: Narrow forehead
Narrow forehead
phenotype Finding 106 20 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: C1837142
Disease: Poor suck
Poor suck
phenotype Finding 103 31 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: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries
phenotype Finding 2 1 0.100 None 0 1
CUI: C1737329
Disease: Dysmorphism
Dysmorphism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 80 16 0.100 None 0 1
CUI: C1531647
Disease: Cerebral ventriculomegaly
Cerebral ventriculomegaly
phenotype Nervous System Diseases Finding 410 0.100 None 0
Delayed speech and language development
phenotype Behavior and Behavior Mechanisms Finding 560 192 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 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
CUI: C4023342
Disease: Gastrostomy tube feeding in infancy
Gastrostomy tube feeding in infancy
phenotype Finding 38 19 0.100 None 0
CUI: C4048268
Disease: Cortical visual impairment
Cortical visual impairment
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Pathologic Function 136 27 0.100 None 0
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy
disease Disease or Syndrome 29 41 0.100 None 0 1