TUBB4A, tubulin beta 4A class IVa, 10382

N. diseases: 107; N. variants: 29
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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.100 None 1.000 1 2 2014 2014
CUI: C0677932
Disease: Progressive Neoplastic Disease
Progressive Neoplastic Disease 		phenotype Neoplastic Process 384 40 0.010 None 1.000 1 1 2014 2014
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.010 None 1.000 1 2017 2017
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.110 None 1.000 1 2014 2014
CUI: C0742028
Disease: Cerebellar vermis atrophy
Cerebellar vermis atrophy 		phenotype Finding 32 6 0.100 None 1.000 1 1 2014 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.010 None 1.000 1 2 2013 2013
CUI: C1842364
Disease: Central hypotonia
Central hypotonia 		phenotype Finding 50 25 0.100 None 1.000 1 1 2014 2014
CUI: C2677328
Disease: Cerebral hypomyelination
Cerebral hypomyelination 		phenotype Finding 29 6 0.100 None 1.000 1 2 2014 2014
CUI: C3539781
Disease: Progressive cGVHD
Progressive cGVHD 		disease Disease or Syndrome 384 40 0.010 None 1.000 1 1 2014 2014
CUI: C4520981
Disease: Abnormality of the basal ganglia
Abnormality of the basal ganglia 		phenotype Anatomical Abnormality 17 3 0.100 None 1.000 1 1 2014 2014
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding) 		phenotype Finding 96 11 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature 		phenotype Finding 1127 292 0.100 None 0
CUI: C1837463
Disease: Narrow face
Narrow face 		phenotype Finding 87 6 0.100 None 0
CUI: C1853237
Disease: Isolated cases
Isolated cases 		phenotype Finding 111 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		phenotype Finding 1010 0.100 None 0
CUI: C3279222
Disease: Aplasia/Hypoplasia of the cerebellum
Aplasia/Hypoplasia of the cerebellum 		phenotype Finding 116 5 0.100 None 0 1
CUI: C4022595
Disease: Tetraplegia/tetraparesis
Tetraplegia/tetraparesis 		disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4022745
Disease: Abnormal basal ganglia MRI signal intensity
Abnormal basal ganglia MRI signal intensity 		phenotype Anatomical Abnormality 7 1 0.100 None 0 1
CUI: C4024154
Disease: Sunken cheeks
Sunken cheeks 		phenotype Finding 3 0.100 None 0
CUI: C4025790
Disease: Specific learning disability
Specific learning disability 		disease Mental or Behavioral Dysfunction 165 13 0.100 None 0
CUI: C4025882
Disease: Movement abnormality of the tongue
Movement abnormality of the tongue 		phenotype Finding 2 0.100 None 0
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		phenotype Finding 160 246 0.100 None 0 1
CUI: C4551915
Disease: Gait Disturbance, CTCAE
Gait Disturbance, CTCAE 		phenotype Finding 299 0.100 None 0
CUI: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0