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: 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: C0003467
Disease: Anxiety
Anxiety 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1048 287 0.200 None 1.000 11 2002 2019
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.200 None 1.000 10 2010 2020
CUI: C0424605
Disease: Developmental delay (disorder)
Developmental delay (disorder) 		phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68 0.100 None 1.000 10 2010 2020
CUI: C0683322
Disease: Mental impairment
Mental impairment 		disease Mental or Behavioral Dysfunction 67 14 0.090 None 1.000 9 1993 2019
CUI: C0004936
Disease: Mental disorders
Mental disorders 		group Mental Disorders Mental or Behavioral Dysfunction 789 149 0.090 None 0.889 9 2005 2019
CUI: C0008073
Disease: Developmental Disabilities
Developmental Disabilities 		group Mental Disorders Mental or Behavioral Dysfunction 355 19 0.090 None 1.000 9 1995 2017
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 11 2 0.310 None 1.000 9 1999 2017
CUI: C1136249
Disease: Mental Retardation, X-Linked
Mental Retardation, X-Linked 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 141 13 0.090 None 1.000 9 1992 2006
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		group Nervous System Diseases Disease or Syndrome 362 247 0.080 None 1.000 8 2006 2016
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		group Nervous System Diseases Disease or Syndrome 977 39 0.080 None 1.000 8 2005 2018
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		group Mental Disorders Mental or Behavioral Dysfunction 535 14 0.080 None 1.000 8 2005 2019
CUI: C0014544
Disease: Epilepsy
Epilepsy 		disease Nervous System Diseases Disease or Syndrome 1215 339 0.080 None 1.000 8 1996 2018
CUI: C4732730
Disease: Blood spots
Blood spots 		disease Disease or Syndrome 117 0.080 None 1.000 8 1995 2013
CUI: C2748208
Disease: Executive dysfunction
Executive dysfunction 		disease Mental or Behavioral Dysfunction 33 3 0.070 None 1.000 7 2010 2017
CUI: C0154208
Disease: Disorder of endocrine ovary
Disorder of endocrine ovary 		group Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 22 1 0.070 None 1.000 7 2005 2019
CUI: C0856975
Disease: Autistic behavior
Autistic behavior 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 261 78 0.170 None 1.000 7 1 2001 2019
CUI: C0497327
Disease: Dementia
Dementia 		disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 816 176 0.160 None 1.000 6 2007 2014
CUI: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.060 None 1.000 6 1993 2013
CUI: C0233794
Disease: Memory impairment
Memory impairment 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 763 48 0.160 None 1.000 6 2010 2017
CUI: C0278061
Disease: Abnormal mental state
Abnormal mental state 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 24 2 0.060 None 1.000 6 1993 2013
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.060 None 1.000 6 2007 2017
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.050 None 1.000 5 2008 2019
CUI: C0747102
Disease: Ovarian failure
Ovarian failure 		disease Endocrine System Diseases Disease or Syndrome 39 1 0.050 None 1.000 5 2000 2014
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1996 2014