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: C0432482
Disease: Fragile X chromosome
Fragile X chromosome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality 1 0.020 None 1.000 2 1993 2016
CUI: C0679378
Disease: neurodevelopmental anomaly
neurodevelopmental anomaly
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1 0.010 None 1.000 1 2007 2007
CUI: C0851121
Disease: digestive problem
digestive problem
phenotype Sign or Symptom 1 0.010 None 1.000 1 2018 2018
CUI: C1536114
Disease: Central pain syndrome
Central pain syndrome
disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2018 2018
CUI: C3264595
Disease: Agoraphobia without panic disorder
Agoraphobia without panic disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 1 0.010 None 1.000 1 2009 2009
CHROMOSOME Xq27.3-q28 DUPLICATION SYNDROME
disease Disease or Syndrome 1 0.300 None 1.000 1 2010 2010
Folate-dependent fragile site at Xq28
phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0
CUI: C3275367
Disease: Impaired tandem gait
Impaired tandem gait
phenotype Finding 1 0.100 None 0
CUI: C4024650
Disease: Congenital macroorchidism
Congenital macroorchidism
disease Congenital Abnormality 1 0.100 None 0
CUI: C0476236
Disease: Developmental symptoms
Developmental symptoms
phenotype Sign or Symptom 2 0.010 None 1.000 1 2004 2004
CUI: C0748071
Disease: psychosocial impairment
psychosocial impairment
disease Mental or Behavioral Dysfunction 2 0.010 None 1.000 1 2001 2001
CUI: C0949331
Disease: Gonadal Agenesis
Gonadal Agenesis
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality 2 0.300 None 1.000 1 2011 2011
CUI: C2678248
Disease: Mood instability
Mood instability
phenotype Finding 2 0.300 None 1.000 1 2007 2007
CUI: C1839782
Disease: Macroorchidism, postpubertal
Macroorchidism, postpubertal
phenotype Finding 2 0.100 None 0
CUI: C3825158
Disease: Learning disabled
Learning disabled
disease Mental or Behavioral Dysfunction 3 0.030 None 1.000 3 1999 2001
CUI: C0236794
Disease: Panic disorder without agoraphobia
Panic disorder without agoraphobia
disease Mental Disorders Mental or Behavioral Dysfunction 3 2 0.010 None 1.000 1 2009 2009
CUI: C1364667
Disease: Adrenalitis
Adrenalitis
disease Disease or Syndrome 3 0.010 None 1.000 1 2018 2018
CUI: C1842605
Disease: SCHIZOPHRENIA 11
SCHIZOPHRENIA 11
disease Disease or Syndrome 3 0.010 None 1.000 1 2016 2016
CUI: C2930861
Disease: Premature ovarian failure, familial
Premature ovarian failure, familial
disease Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome 3 0.010 None 1.000 1 1999 1999
EPILEPTIC ENCEPHALOPATHY, CHILDHOOD-ONSET
disease Disease or Syndrome 3 43 0.200 None 1.000 1 2013 2013
CUI: C0004444
Disease: Avoidant Personality Disorder
Avoidant Personality Disorder
phenotype Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 1998 1998
CUI: C0236801
Disease: Phobia, Specific
Phobia, Specific
disease Mental Disorders Mental or Behavioral Dysfunction 4 0.010 None 1.000 1 2009 2009
CUI: C4324720
Disease: Autoimmune thyroid disorder
Autoimmune thyroid disorder
disease Disease or Syndrome 4 0.010 None 1.000 1 2015 2015
CUI: C4022575
Disease: Inertia
Inertia
phenotype Finding 4 0.100 None 0
CUI: C4552213
Disease: Broad autism phenotype
Broad autism phenotype
disease Mental or Behavioral Dysfunction 6 0.020 None 0.500 2 2012 2019