DNM1, dynamin 1, 1759

N. diseases: 114; N. variants: 19
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 31
disease Disease or Syndrome 2 13 0.700 strong 1.000 6 13 2014 2017
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy
disease Nervous System Diseases Disease or Syndrome 187 126 0.430 None 1.000 3 1 2014 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 2872 2897 0.340 None 1.000 4 2009 2018
CUI: C0014544
Disease: Epilepsy
Epilepsy
disease Nervous System Diseases Disease or Syndrome 1215 339 0.330 None 1.000 4 2010 2018
Early infantile epileptic encephalopathy with suppression bursts
disease Nervous System Diseases Disease or Syndrome 81 10 0.300 definitive 1.000 10 1993 2016
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms
disease Nervous System Diseases Disease or Syndrome 53 122 0.300 definitive 1.000 10 1993 2016
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 1
disease Nervous System Diseases Disease or Syndrome 12 30 0.300 definitive 1.000 10 1993 2016
CUI: C0238111
Disease: Lennox-Gastaut syndrome
Lennox-Gastaut syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 2 0.300 None 1.000 2 2014 2015
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders
group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.300 None 1.000 1 2018 2018
CUI: C0751111
Disease: Awakening Epilepsy
Awakening Epilepsy
disease Nervous System Diseases Disease or Syndrome 83 0.300 None 1.000 1 2018 2018
CUI: C0086237
Disease: Epilepsy, Cryptogenic
Epilepsy, Cryptogenic
disease Nervous System Diseases Disease or Syndrome 88 4 0.300 None 1.000 1 2018 2018
CUI: C0236018
Disease: Aura
Aura
phenotype Nervous System Diseases Finding 83 0.300 None 1.000 1 2018 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.260 None 1.000 7 2003 2020
CUI: C0014548
Disease: Epilepsy, Generalized
Epilepsy, Generalized
disease Nervous System Diseases Disease or Syndrome 93 36 0.200 None 1.000 2 2010 2016
CUI: C0036572
Disease: Seizures
Seizures
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.120 None 1.000 2 1 2010 2015
CUI: C0085584
Disease: Encephalopathies
Encephalopathies
group Nervous System Diseases Disease or Syndrome 457 64 0.110 None 1.000 1 2014 2014
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
disease Mental or Behavioral Dysfunction 1825 553 0.110 None 1.000 1 1 2018 2018
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 1.000 38 4 1983 2017
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
disease Congenital Abnormality 439 617 0.100 None 1.000 38 2 1983 2017
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1305855
Disease: Body mass index
Body mass index
phenotype Clinical Attribute 1014 2689 0.100 None 1.000 1 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2019 2019
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C0684276
Disease: Hypsarrhythmia
Hypsarrhythmia
phenotype Nervous System Diseases Finding 152 7 0.100 None 0
CUI: C0595948
Disease: Atypical absence seizure
Atypical absence seizure
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 17 0.100 None 0