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.
CUI: C4225161
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3
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: C0233283
Disease: Complete breech presentation
Complete breech presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Finding 1 1 0.100 None 0 1
CUI: C3150353
Disease: Ventral septal defect (VSD)
Ventral septal defect (VSD) 		phenotype Finding 1 1 0.100 None 0 1
CUI: C0549400
Disease: Low APGAR score
Low APGAR score 		phenotype Finding 2 1 0.100 None 0 1
CUI: C1836791
Disease: Tortuous cerebral arteries
Tortuous cerebral arteries 		phenotype Finding 2 1 0.100 None 0 1
CUI: C4022871
Disease: Extra-axial cerebrospinal fluid accumulation
Extra-axial cerebrospinal fluid accumulation 		phenotype Finding 2 1 0.100 None 0
CUI: C0266121
Disease: Congenital absence of uvula
Congenital absence of uvula 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Congenital Abnormality 4 1 0.100 None 0 1
CUI: C4021217
Disease: EEG with generalized slow activity
EEG with generalized slow activity 		phenotype Finding 8 6 0.100 None 0 1
CUI: C0700078
Disease: Decreased tendon reflex
Decreased tendon reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 10 13 0.100 None 0 1
CUI: C4022769
Disease: Small basal ganglia
Small basal ganglia 		phenotype Finding 10 0.100 None 0
CUI: C1850629
Disease: Exaggerated cupid's bow
Exaggerated cupid's bow 		phenotype Finding 11 6 0.100 None 0
CUI: C4022761
Disease: Reduced brain N-acetyl aspartate level by MRS
Reduced brain N-acetyl aspartate level by MRS 		phenotype Finding 11 8 0.100 None 0
CUI: C4072903
Disease: Primary Caesarian section
Primary Caesarian section 		phenotype Finding 11 15 0.100 None 0 1
CUI: C4072904
Disease: Secondary Caesarian section
Secondary Caesarian section 		phenotype Finding 13 13 0.100 None 0 1
CUI: C4022735
Disease: Cerebral white matter atrophy
Cerebral white matter atrophy 		disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality 20 11 0.100 None 0 1
CUI: C0431369
Disease: Dysgenesis of corpus callosum
Dysgenesis of corpus callosum 		disease Congenital Abnormality 25 3 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
CUI: C0006157
Disease: Breech Presentation
Breech Presentation 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 30 11 0.100 None 0 1
CUI: C0270971
Disease: Floppy infant syndrome
Floppy infant syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 31 6 0.020 None 1.000 2 1 2018 2019
CUI: C0038450
Disease: Stridor
Stridor 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 31 7 0.100 None 0 1
CUI: C0549629
Disease: Abnormal delivery
Abnormal delivery 		phenotype Pathologic Function 32 37 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: C4721413
Disease: Juvenile angiofibroma
Juvenile angiofibroma 		disease Neoplasms; Cardiovascular Diseases Neoplastic Process 44 0.010 None 1.000 1 2016 2016
CUI: C0206731
Disease: Angiofibroma
Angiofibroma 		disease Neoplasms Neoplastic Process 45 1 0.010 None 1.000 1 2016 2016
CUI: C2673431
Disease: Abnormality of the periventricular white matter
Abnormality of the periventricular white matter 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality 45 7 0.100 None 0 1