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: C1963184
Disease: Nystagmus, CTCAE 3.0
Nystagmus, CTCAE 3.0
phenotype Finding 779 0.100 None 0
CUI: C1848673
Disease: Hypoplastic feet
Hypoplastic feet
phenotype Finding 129 21 0.100 None 0
CUI: C1847879
Disease: X-linked dominant inheritance
X-linked dominant inheritance
phenotype Finding 65 0.100 None 0
CUI: C1845847
Disease: Coarse facial features
Coarse facial features
phenotype Pathological Conditions, Signs and Symptoms Finding 194 33 0.100 None 0
Urinary bladder sphincter dysfunction
phenotype Finding 28 1 0.100 None 0
CUI: C1843367
Disease: Poor school performance
Poor school performance
phenotype Finding 211 411 0.100 None 0 3
Folate-dependent fragile site at Xq28
phenotype Pathological Conditions, Signs and Symptoms Finding 1 0.100 None 0
CUI: C0086437
Disease: Joint laxity
Joint laxity
phenotype Musculoskeletal Diseases Pathologic Function 224 15 0.100 None 0
CUI: C0575802
Disease: Small hand
Small hand
phenotype Finding 108 31 0.100 None 0
CUI: C1839783
Disease: Large forehead
Large forehead
phenotype Finding 14 1 0.100 None 0
CUI: C1850601
Disease: Abnormality of brainstem morphology
Abnormality of brainstem morphology
phenotype Finding 21 2 0.100 None 0
CUI: C1853767
Disease: Impaired distal vibration sensation
Impaired distal vibration sensation
phenotype Finding 10 1 0.100 None 0
CUI: C1854699
Disease: Diffuse cerebellar atrophy
Diffuse cerebellar atrophy
phenotype Finding 17 4 0.100 None 0
CUI: C0018418
Disease: Gynecomastia
Gynecomastia
disease Skin and Connective Tissue Diseases Disease or Syndrome 121 8 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: C1867864
Disease: Poor fine motor coordination
Poor fine motor coordination
phenotype Finding 31 3 0.100 None 0
CUI: C1862863
Disease: Sparse body hair
Sparse body hair
phenotype Finding 57 0.100 None 0
Increased circulating gonadotropin level
phenotype Nervous System Diseases; Endocrine System Diseases Finding 34 0.100 None 0
CUI: C0020619
Disease: Hypogonadism
Hypogonadism
disease Endocrine System Diseases Disease or Syndrome 305 24 0.100 None 0
CUI: C0541764
Disease: Delayed bone age
Delayed bone age
phenotype Finding 295 14 0.100 None 0
CUI: C0020649
Disease: Hypotension
Hypotension
phenotype Cardiovascular Diseases Finding 125 2 0.100 None 0
CUI: C1855285
Disease: Protruding ear
Protruding ear
phenotype Finding 152 6 0.100 None 0
CUI: C1839782
Disease: Macroorchidism, postpubertal
Macroorchidism, postpubertal
phenotype Finding 2 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: C0028738
Disease: Nystagmus
Nystagmus
disease Eye Diseases; Nervous System Diseases Disease or Syndrome 833 95 0.100 None 0