FRG1, FSHD region gene 1, 2483

N. diseases: 44; N. variants: 0
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: C4049796
Disease: Abnormality of cardiovascular system morphology
Abnormality of cardiovascular system morphology 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 198 13 0.100 None 0
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
Muscular Dystrophy, Facioscapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 143 3 0.400 None 0.957 23 1996 2017
CUI: C0026850
Disease: Muscular Dystrophy
Muscular Dystrophy 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 280 67 0.030 None 1.000 3 1997 2009
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.020 None 1.000 2 2010 2011
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		disease Digestive System Diseases Disease or Syndrome 1382 1147 0.010 None 1.000 1 2015 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.010 None 1.000 1 2007 2007
CUI: C0234958
Disease: Muscle degeneration
Muscle degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 70 3 0.010 None 1.000 1 2007 2007
CUI: C0015469
Disease: Facial paralysis
Facial paralysis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 182 3 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0024003
Disease: Lordosis
Lordosis 		phenotype Musculoskeletal Diseases Disease or Syndrome 160 15 0.100 None 0
CUI: C0154822
Disease: Serous retinal detachment
Serous retinal detachment 		disease Eye Diseases Disease or Syndrome 12 2 0.100 None 0
CUI: C0154835
Disease: Retinal telangiectasia
Retinal telangiectasia 		disease Cardiovascular Diseases Disease or Syndrome 20 0.100 None 0
CUI: C0162292
Disease: External Ophthalmoplegia
External Ophthalmoplegia 		disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome 41 6 0.100 None 0
CUI: C0241423
Disease: Atrophy of tongue
Atrophy of tongue 		disease Pathological Conditions, Signs and Symptoms; Stomatognathic Diseases Disease or Syndrome 10 0.100 None 0
CUI: C0410192
Disease: Muscular Dystrophy, Scapulohumeral
Muscular Dystrophy, Scapulohumeral 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 3 3 0.100 None 0
CUI: C1609528
Disease: Restrictive deficit on pulmonary function testing
Restrictive deficit on pulmonary function testing 		phenotype Respiratory Tract Diseases Disease or Syndrome 16 6 0.100 None 0
CUI: C1834673
Disease: Facioscapulohumeral muscular dystrophy 1a
Facioscapulohumeral muscular dystrophy 1a 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 1 0.300 None 0
CUI: C0240953
Disease: Winged scapula
Winged scapula 		phenotype Finding 73 3 0.100 None 0
CUI: C0241005
Disease: Creatine phosphokinase serum increased
Creatine phosphokinase serum increased 		phenotype Finding 228 43 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: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0
CUI: C0476403
Disease: Electromyogram abnormal
Electromyogram abnormal 		phenotype Finding 130 12 0.100 None 0
CUI: C1837352
Disease: Childhood onset
Childhood onset 		phenotype Finding 56 0.100 None 0
CUI: C1843057
Disease: Calf muscle hypertrophy
Calf muscle hypertrophy 		phenotype Finding 46 5 0.100 None 0
CUI: C1847766
Disease: Shoulder girdle muscle atrophy
Shoulder girdle muscle atrophy 		phenotype Finding 12 1 0.100 None 0