MTMR14, myotubularin related protein 14, 64419

N. diseases: 61; N. variants: 2
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: C4551952
Disease: Myopathy, Centronuclear, 1
Myopathy, Centronuclear, 1
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 13 0.600 None 1.000 2 2 2006 2009
Myopathy, Centronuclear, Autosomal Dominant
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 1 0.600 None 1.000 1 2006 2006
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.530 moderate 1.000 4 2008 2019
CUI: C0752282
Disease: Congenital Structural Myopathy
Congenital Structural Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 1 0.310 None 1.000 1 2006 2006
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process 2841 327 0.300 None 1.000 1 2019 2019
Autosomal Recessive Centronuclear Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 16 0.300 None 0
CUI: C0546264
Disease: Congenital Fiber Type Disproportion
Congenital Fiber Type Disproportion
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 33 49 0.300 None 0
CUI: C0410207
Disease: Tubular Aggregate Myopathy
Tubular Aggregate Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 67 5 0.300 None 0
CUI: C0410203
Disease: X-linked centronuclear myopathy
X-linked centronuclear myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 29 140 0.300 None 0
Autosomal Dominant Myotubular Myopathy
disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 13 0.300 None 0
CUI: C1854387
Disease: Type 1 muscle fiber predominance
Type 1 muscle fiber predominance
phenotype Finding 44 0.100 None 0
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis
disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C1854301
Disease: Motor delay
Motor delay
phenotype Mental Disorders Finding 384 34 0.100 None 0
CUI: C1850830
Disease: Exercise-induced myalgia
Exercise-induced myalgia
phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom 37 4 0.100 None 0
CUI: C1848395
Disease: Large for gestational age
Large for gestational age
phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding 43 10 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy
phenotype Finding 46 5 0.100 None 0
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay
disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0
CUI: C1837098
Disease: Easy fatigability
Easy fatigability
phenotype Finding 74 5 0.100 None 0
CUI: C1836599
Disease: Macrocephaly at birth
Macrocephaly at birth
phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Finding 12 6 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C1263857
Disease: Peripheral axonal neuropathy
Peripheral axonal neuropathy
disease Nervous System Diseases Disease or Syndrome 94 12 0.100 None 0
CUI: C1854494
Disease: Slow progression
Slow progression
phenotype Finding 165 0.100 None 0
CUI: C1856694
Disease: Areflexia of lower limbs
Areflexia of lower limbs
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 24 4 0.100 None 0
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion
phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 188 0.100 None 0
CUI: C4025785
Disease: Abnormality of the foot musculature
Abnormality of the foot musculature
phenotype Anatomical Abnormality 8 0.100 None 0