FMR1, FMRP translational regulator 1, 2332

N. diseases: 346; N. variants: 10
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: C0004134
Disease: Ataxia
Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 868 68 0.100 None 1.000 24 2002 2019
CUI: C0040822
Disease: Tremor
Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 528 52 0.100 None 1.000 20 2003 2019
CUI: C0036572
Disease: Seizures
Seizures 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2152 553 0.200 None 1.000 11 2007 2019
CUI: C0234376
Disease: Action Tremor
Action Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 95 2 0.200 None 1.000 11 2002 2018
CUI: C4551520
Disease: Intention tremor
Intention tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 20 6 0.100 None 1.000 11 2002 2018
CUI: C0235031
Disease: Neurologic Symptoms
Neurologic Symptoms 		group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 233 30 0.040 None 1.000 4 2004 2013
CUI: C0751837
Disease: Gait Ataxia
Gait Ataxia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 172 17 0.140 None 1.000 4 2007 2019
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.030 None 0.667 3 2005 2015
CUI: C4551521
Disease: Kinetic tremor
Kinetic tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 13 5 0.030 None 1.000 3 2009 2018
CUI: C0030193
Disease: Pain
Pain 		phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1554 196 0.020 None 1.000 2 2011 2014
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 311 74 0.020 None 1.000 2 2015 2018
CUI: C0233401
Disease: Psychiatric symptom
Psychiatric symptom 		phenotype Sign or Symptom 95 12 0.020 None 1.000 2 2015 2016
CUI: C0426980
Disease: Motor symptoms
Motor symptoms 		phenotype Sign or Symptom 100 15 0.020 None 1.000 2 2013 2014
CUI: C0004941
Disease: Behavioral Symptoms
Behavioral Symptoms 		group Behavior and Behavior Mechanisms Sign or Symptom 45 9 0.010 None 1.000 1 2016 2016
CUI: C0086132
Disease: Depressive Symptoms
Depressive Symptoms 		phenotype Behavior and Behavior Mechanisms Sign or Symptom 421 120 0.310 None 1.000 1 2008 2008
CUI: C0233565
Disease: Bradykinesia
Bradykinesia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 133 16 0.110 None 1.000 1 2014 2014
CUI: C0234378
Disease: Static Tremor
Static Tremor 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 62 3 0.110 None 1.000 1 2008 2008
CUI: C0476236
Disease: Developmental symptoms
Developmental symptoms 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2004 2004
CUI: C0525041
Disease: Neurobehavioral Manifestations
Neurobehavioral Manifestations 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 77 3 0.010 None 1.000 1 2016 2016
CUI: C0542476
Disease: Forgetful
Forgetful 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom 429 18 0.110 None 1.000 1 2017 2017
CUI: C0751295
Disease: Memory Loss
Memory Loss 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Sign or Symptom 163 10 0.010 None 1.000 1 2016 2016
CUI: C0851121
Disease: digestive problem
digestive problem 		phenotype Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C0860603
Disease: Anxiety symptoms
Anxiety symptoms 		phenotype Sign or Symptom 110 10 0.010 None 1.000 1 2012 2012
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
[D]Sleep disturbances (& [hypersomnia] or [insomnia]) 		phenotype Sign or Symptom 69 23 0.010 None 1.000 1 2018 2018
CUI: C4285807
Disease: Behavioral and psychological symptoms of dementia
Behavioral and psychological symptoms of dementia 		phenotype Sign or Symptom 72 9 0.010 None 1.000 1 2006 2006