FMR1, fragile X mental retardation 1, 2332

N. diseases: 288; N. variants: 6
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: C3714756
Disease: Intellectual Disability
Intellectual Disability
group Behavior and Behavior Mechanisms; Mental Disorders; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 2502 53 0.600 strong 0.978 141 1 1992 2016
CUI: C0004138
Disease: Ataxias, Hereditary
Ataxias, Hereditary
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 166 0.300 strong 0
CUI: C0020255
Disease: Hydrocephalus
Hydrocephalus
disease Nervous System Diseases Disease or Syndrome 252 7 0.300 strong 0
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 94 5 1.000 0.979 547 3 1991 2018
CUI: C1839780
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME
FRAGILE X TREMOR/ATAXIA SYNDROME
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 46 0.800 0.978 139 2004 2018
CUI: C0025362
Disease: Mental Retardation
Mental Retardation
disease Mental or Behavioral Dysfunction 1157 29 0.100 1.000 73 1 1992 2015
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature
disease Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 174 68 0.400 0.923 67 1994 2018
CUI: C0025322
Disease: Premature Menopause
Premature Menopause
phenotype Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 153 58 0.200 0.942 52 1994 2018
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 744 41 0.100 1.000 39 2004 2018
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder
group Mental Disorders Mental or Behavioral Dysfunction 676 237 0.700 1.000 37 1993 2017
CUI: C0242422
Disease: Parkinsonian Disorders
Parkinsonian Disorders
group Nervous System Diseases Disease or Syndrome 213 64 0.200 1.000 21 2004 2017
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders
disease Mental Disorders Mental or Behavioral Dysfunction 571 436 0.300 1.000 19 2007 2018
CUI: C0007758
Disease: Cerebellar Ataxia
Cerebellar Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 564 52 0.100 1.000 18 2002 2010
CUI: C0004134
Disease: Ataxia
Ataxia
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 207 27 0.100 1.000 18 2002 2014
CUI: C0040822
Disease: Tremor
Tremor
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Sign or Symptom 225 27 0.100 1.000 15 2003 2015
CUI: C0338656
Disease: Impaired cognition
Impaired cognition
disease Mental Disorders Mental or Behavioral Dysfunction 670 121 0.100 1.000 15 2002 2018
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome
disease Cardiovascular Diseases; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 159 19 0.100 0.857 14 2009 2018
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders
group Mental Disorders Mental or Behavioral Dysfunction 236 29 0.400 0.909 12 2000 2018
CUI: C0751156
Disease: FRAXA Syndrome
FRAXA Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 7 0.540 1.000 12 2000 2017
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior
phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 371 46 0.100 0.909 11 1995 2015
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 1063 636 0.100 0.909 11 2005 2015
CUI: C1857276
Disease: Trichohepatoenteric Syndrome
Trichohepatoenteric Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 266 13 0.100 1.000 10 1991 2014
CUI: C0003469
Disease: Anxiety Disorders
Anxiety Disorders
group Mental Disorders Mental or Behavioral Dysfunction 395 79 0.390 0.889 10 2002 2018
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
disease Mental Disorders Mental or Behavioral Dysfunction 1922 1782 0.400 1.000 10 1996 2018
Hypergonadotropic Ovarian Failure, X-Linked
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Endocrine System Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome 7 2 0.380 1.000 9 2003 2016