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: C0578038
Disease: Thin lips
Thin lips
phenotype Finding 99 8 0.100 None 0
CUI: C0392699
Disease: Dysesthesia
Dysesthesia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 22 3 0.100 None 0
CUI: C0026267
Disease: Mitral Valve Prolapse Syndrome
Mitral Valve Prolapse Syndrome
disease Cardiovascular Diseases Disease or Syndrome 111 29 0.100 None 0
CUI: C0349588
Disease: Short stature
Short stature
phenotype Finding 1127 292 0.100 None 0
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE
phenotype Finding 1010 0.100 None 0
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 967 579 0.100 None 0
CUI: C0026837
Disease: Muscle Rigidity
Muscle Rigidity
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 320 25 0.100 None 0
CUI: C0271441
Disease: Chronic otitis media
Chronic otitis media
disease Otorhinolaryngologic Diseases Disease or Syndrome 163 6 0.100 None 0
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction
disease Male Urogenital Diseases; Mental Disorders Disease or Syndrome 256 44 0.100 None 0
CUI: C0241703
Disease: High pitched voice
High pitched voice
phenotype Finding 35 1 0.100 None 0
CUI: C0241355
Disease: Small testicle
Small testicle
phenotype Finding 129 0.100 None 0
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion
disease Stomatognathic Diseases Congenital Abnormality 181 19 0.100 None 0
CUI: C0423224
Disease: Sunken eyes
Sunken eyes
phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Finding 171 54 0.100 None 0
CUI: C0576226
Disease: Short foot
Short foot
phenotype Finding 116 0.100 None 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C1963167
Disease: Memory Impairment, CTCAE 3.0
Memory Impairment, CTCAE 3.0
phenotype Finding 109 2 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C0476217
Disease: Head movements abnormal
Head movements abnormal
phenotype Nervous System Diseases Finding 8 2 0.100 None 0
CUI: C0424448
Disease: Mask-like facies
Mask-like facies
phenotype Nervous System Diseases Finding 64 2 0.100 None 0
CUI: C0424296
Disease: Social disinhibition
Social disinhibition
disease Mental Disorders Mental or Behavioral Dysfunction 56 5 0.100 None 0
CUI: C0240543
Disease: Bulbous nose
Bulbous nose
phenotype Finding 123 13 0.100 None 0
CUI: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0