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: C0012746
Disease: Dissociative disorder
Dissociative disorder 		group Mental Disorders Mental or Behavioral Dysfunction 6 1 0.010 None 1.000 1 2009 2009
CUI: C0236818
Disease: Selective Mutism
Selective Mutism 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 6 2 0.010 None 1.000 1 1999 1999
CUI: C1456326
Disease: Selective mutism specific to childhood and adolescence
Selective mutism specific to childhood and adolescence 		phenotype Mental or Behavioral Dysfunction 6 2 0.010 None 1.000 1 1999 1999
CUI: C3494522
Disease: Hypergonadotropic Ovarian Failure, X-Linked
Hypergonadotropic Ovarian Failure, X-Linked 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 6 0.300 None 1.000 1 2003 2003
CUI: C0042023
Disease: Increased frequency of micturition
Increased frequency of micturition 		phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding 6 0.100 None 0
CUI: C4552079
Disease: Premature Ovarian Failure 1
Premature Ovarian Failure 1 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 7 2 0.600 None 1.000 20 2003 2019
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 8 1 0.350 None 1.000 13 1995 2017
CUI: C0743479
Disease: emotional dysfunction
emotional dysfunction 		disease Mental or Behavioral Dysfunction 8 1 0.010 None 1.000 1 2007 2007
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal 		phenotype Nervous System Diseases Finding 8 2 0.100 None 0
CUI: C1401084
Disease: Ovarian Insufficiency
Ovarian Insufficiency 		disease Disease or Syndrome 9 0.040 None 1.000 4 2008 2014
CUI: C0086367
Disease: Gonadotropin-Resistant Ovary Syndrome
Gonadotropin-Resistant Ovary Syndrome 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 9 4 0.300 None 1.000 1 2003 2003
CUI: C0393524
Disease: Cerebellar Ataxia, Late Onset
Cerebellar Ataxia, Late Onset 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 9 0.010 None 1.000 1 2014 2014
CUI: C0742035
Disease: Cerebellar lesion NOS
Cerebellar lesion NOS 		disease Disease or Syndrome 9 0.010 None 1.000 1 2013 2013
CUI: C0156404
Disease: Irregular Menstruation
Irregular Menstruation 		phenotype Pathological Conditions, Signs and Symptoms Finding 9 3 0.100 None 0
CUI: C0282631
Disease: Facies
Facies 		group Pathological Conditions, Signs and Symptoms Organism Attribute 10 0.300 None 1.000 1 2011 2011
CUI: C1864172
Disease: Peroxisome Biogenesis Disorder, Complementation Group G
Peroxisome Biogenesis Disorder, Complementation Group G 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 1997 1997
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation 		phenotype Finding 10 1 0.100 None 0
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: C4303510
Disease: Idiopathic premature ovarian failure
Idiopathic premature ovarian failure 		disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 11 2 0.030 None 0.667 3 2000 2018
CUI: C0743101
Disease: developmentally delayed
developmentally delayed 		phenotype Disease or Syndrome 11 0.020 None 1.000 2 2000 2010
CUI: C0687131
Disease: Psychoticism
Psychoticism 		disease Mental or Behavioral Dysfunction 11 2 0.010 None 1.000 1 2005 2005
CUI: C1863843
Disease: Neuronal intranuclear inclusion disease
Neuronal intranuclear inclusion disease 		disease Nervous System Diseases Disease or Syndrome 12 0.010 None 1.000 1 2019 2019
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: C1839783
Disease: Large forehead
Large forehead 		phenotype Finding 14 1 0.100 None 0
CUI: C2363129
Disease: Benign Rolandic Epilepsy
Benign Rolandic Epilepsy 		disease Nervous System Diseases Disease or Syndrome 15 2 0.010 None 1.000 1 1996 1996