ADD3, adducin 3, 120

N. diseases: 54; N. variants: 6
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.
CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3
disease Disease or Syndrome 1 1 0.600 None 1.000 1 1 2013 2013
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.400 None 1.000 2 1 2017 2019
CUI: C0024713
Disease: Manic Disorder
Manic Disorder
disease Mental Disorders Mental or Behavioral Dysfunction 76 0.300 None 1.000 1 2019 2019
CUI: C0154659
Disease: Toxic Encephalitis
Toxic Encephalitis
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C0338831
Disease: Manic
Manic
disease Mental Disorders Mental or Behavioral Dysfunction 166 8 0.300 None 1.000 1 2019 2019
CUI: C0149504
Disease: Encephalopathy, Toxic
Encephalopathy, Toxic
disease Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 29 0.300 None 1.000 1 2010 2010
CUI: C0917798
Disease: Cerebral Ischemia
Cerebral Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Pathologic Function 120 2 0.300 None 1.000 1 2008 2008
CUI: C0023893
Disease: Liver Cirrhosis, Experimental
Liver Cirrhosis, Experimental
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0.300 None 1.000 1 2014 2014
CUI: C0007786
Disease: Brain Ischemia
Brain Ischemia
disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 358 5 0.300 None 1.000 1 2008 2008
Cerebral Palsy, Spastic Quadriplegic, 1
disease Nervous System Diseases Disease or Syndrome 3 2 0.300 None 1.000 1 2013 2013
CUI: C0005587
Disease: Depression, Bipolar
Depression, Bipolar
disease Mental Disorders Mental or Behavioral Dysfunction 116 2 0.300 None 1.000 1 2019 2019
CUI: C0235032
Disease: Neurotoxicity Syndromes
Neurotoxicity Syndromes
group Nervous System Diseases; Chemically-Induced Disorders Injury or Poisoning 34 0.300 None 1.000 1 2010 2010
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
group Cardiovascular Diseases Disease or Syndrome 2322 1085 0.200 None 1.000 1 2002 2002
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
disease Nervous System Diseases Disease or Syndrome 241 69 0.110 None 1.000 1 1 2013 2013
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
phenotype Laboratory Procedure 610 1144 0.100 None 1.000 1 1 2019 2019
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
disease Finding 578 1158 0.100 None 1.000 1 1 2018 2018
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis
disease Musculoskeletal Diseases Anatomical Abnormality 656 1178 0.100 None 1.000 1 1 2018 2018
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
CUI: C0011168
Disease: Deglutition Disorders
Deglutition Disorders
group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 389 50 0.100 None 0
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 86 7 0.100 None 0
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0
phenotype Finding 779 0.100 None 0
CUI: C1720037
Disease: Supranuclear gaze palsy
Supranuclear gaze palsy
phenotype Finding 19 1 0.100 None 0
CUI: C1848207
Disease: Poor speech
Poor speech
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 208 9 0.100 None 0
CUI: C1861403
Disease: Variable expressivity
Variable expressivity
phenotype Finding 319 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0