GTPBP2, GTP binding protein 2, 54676

N. diseases: 44; N. variants: 9
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: C4553743
Disease: Spasticity, CTCAE
Spasticity, CTCAE 		phenotype Finding 477 0.100 None 0
CUI: C0239234
Disease: Low set ears
Low set ears 		disease Congenital Abnormality 489 64 0.100 None 0
CUI: C0239815
Disease: Hand clenching
Hand clenching 		phenotype Finding 26 9 0.100 None 0
CUI: C0262444
Disease: Abnormality of the dentition
Abnormality of the dentition 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Finding 140 16 0.100 None 0
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		phenotype Finding 271 106 0.100 None 0
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0
CUI: C0740279
Disease: Cerebellar atrophy
Cerebellar atrophy 		disease Disease or Syndrome 321 67 0.100 None 0
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.100 None 0
CUI: C1832446
Disease: Sparse eyebrow
Sparse eyebrow 		phenotype Finding 31 6 0.100 None 0
CUI: C1836542
Disease: Depressed nasal bridge
Depressed nasal bridge 		phenotype Finding 426 39 0.100 None 0
CUI: C1839758
Disease: Narrow forehead
Narrow forehead 		phenotype Finding 106 20 0.100 None 0
CUI: C1843300
Disease: Sparse eyelashes
Sparse eyelashes 		phenotype Finding 60 4 0.100 None 0
CUI: C1849341
Disease: Triangular mouth
Triangular mouth 		phenotype Finding 14 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear 		phenotype Finding 152 6 0.100 None 0
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 955 164 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity 		phenotype Finding 319 0.100 None 0
CUI: C3665347
Disease: Visual Impairment
Visual Impairment 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 422 0.100 None 0
CUI: C0234162
Disease: Cerebellar Dysmetria
Cerebellar Dysmetria 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 127 17 0.100 None 0
CUI: C0175754
Disease: Agenesis of corpus callosum
Agenesis of corpus callosum 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 615 45 0.100 None 0
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified 		disease Musculoskeletal Diseases Disease or Syndrome 850 135 0.100 None 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
CUI: C0013421
Disease: Dystonia
Dystonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 453 97 0.400 strong 0
CUI: C0022821
Disease: Kyphosis deformity of spine
Kyphosis deformity of spine 		phenotype Musculoskeletal Diseases Anatomical Abnormality 305 10 0.100 None 0
CUI: C0025958
Disease: Microcephaly
Microcephaly 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 1064 27 0.100 None 0