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: C0557874
Disease: Global developmental delay
Global developmental delay 		disease Mental or Behavioral Dysfunction 1825 553 0.200 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: 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: C1306341
Disease: Mental handicap
Mental handicap 		disease Mental or Behavioral Dysfunction 26 1 0.060 None 1.000 6 1993 2013
CUI: C1611743
Disease: Familial (FPAH)
Familial (FPAH) 		disease Disease or Syndrome 1075 276 0.050 None 1.000 5 1996 2014
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.040 None 1.000 4 2008 2014
CUI: C0233397
Disease: Psychological symptom
Psychological symptom 		phenotype Sign or Symptom 33 12 0.030 None 0.667 3 2005 2015
CUI: C3825158
Disease: Learning disabled
Learning disabled 		disease Mental or Behavioral Dysfunction 3 0.030 None 1.000 3 1999 2001
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: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.020 None 1.000 2 2000 2010
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype 		disease Mental or Behavioral Dysfunction 6 0.020 None 0.500 2 2012 2019
CUI: C0424101
Disease: Inattention
Inattention 		phenotype Mental or Behavioral Dysfunction 66 22 0.010 None 1.000 1 2001 2001
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.010 None 1.000 1 2014 2014
CUI: C0476236
Disease: Developmental symptoms
Developmental symptoms 		phenotype Sign or Symptom 2 0.010 None 1.000 1 2004 2004
CUI: C0687131
Disease: Psychoticism
Psychoticism 		disease Mental or Behavioral Dysfunction 11 2 0.010 None 1.000 1 2005 2005
CUI: C0742035
Disease: Cerebellar lesion NOS
Cerebellar lesion NOS 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C0743479
Disease: emotional dysfunction
emotional dysfunction 		disease Mental or Behavioral Dysfunction 8 1 0.010 None 1.000 1 2007 2007
CUI: C0748071
Disease: psychosocial impairment
psychosocial impairment 		disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2001 2001
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: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.010 None 1.000 1 2013 2013
CUI: C1364667
Disease: Adrenalitis
Adrenalitis 		disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018