TCTN2, tectonic family member 2, 79867

N. diseases: 109; N. variants: 15
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.010 None 1.000 1 2017 2017
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		group Eye Diseases Disease or Syndrome 400 14 0.300 limited 0
CUI: C0575081
Disease: Gait abnormality
Gait abnormality 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 312 23 0.100 None 0
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 2165 159 0.100 None 0
CUI: C0000731
Disease: Abdomen distended
Abdomen distended 		phenotype Digestive System Diseases Finding 103 6 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea 		phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 0
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding 590 77 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026838
Disease: Muscle Spasticity
Muscle Spasticity 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 580 48 0.100 None 0
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.100 None 0
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 0
CUI: C0079924
Disease: Oligohydramnios
Oligohydramnios 		phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 129 21 0.100 None 0
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 539 19 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: C0521525
Disease: Short neck
Short neck 		phenotype Finding 288 29 0.100 None 0
CUI: C1836047
Disease: Long face
Long face 		phenotype Finding 182 12 0.100 None 0
CUI: C1839326
Disease: Abnormal form of the vertebral bodies
Abnormal form of the vertebral bodies 		phenotype Finding 89 0.100 None 0
CUI: C1840077
Disease: Anteverted nostril
Anteverted nostril 		phenotype Finding 407 35 0.100 None 0
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia 		phenotype Finding 100 26 0.100 None 0
CUI: C1842876
Disease: Depressed nasal ridge
Depressed nasal ridge 		phenotype Finding 117 1 0.100 None 0
CUI: C1849089
Disease: Broad forehead
Broad forehead 		phenotype Finding 133 13 0.100 None 0
CUI: C1854113
Disease: Prominent nasal bridge
Prominent nasal bridge 		phenotype Finding 180 8 0.100 None 0
CUI: C1854114
Disease: Short nose
Short nose 		phenotype Finding 265 23 0.100 None 0
CUI: C1854418
Disease: Biparietal narrowing
Biparietal narrowing 		phenotype Finding 60 0.100 None 0