NEB, nebulin, 4703

N. diseases: 148; N. variants: 280
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: C0206157
Disease: Myopathies, Nemaline
Myopathies, Nemaline 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 47 42 0.500 strong 1.000 54 22 1998 2019
CUI: C1850569
Disease: Nemaline Myopathy 2
Nemaline Myopathy 2 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 265 0.920 definitive 1.000 39 265 1998 2018
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		disease Congenital Abnormality 439 617 0.100 None 1.000 12 3 1988 2017
CUI: C0751657
Disease: Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Autosomal Recessive 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 7 0.060 None 1.000 6 1998 2011
CUI: C0013264
Disease: Muscular Dystrophy, Duchenne
Muscular Dystrophy, Duchenne 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 375 170 0.030 None 0.667 3 1987 1988
CUI: C1276035
Disease: Pena-Shokeir syndrome type I
Pena-Shokeir syndrome type I 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 40 21 0.120 None 1.000 2 2017 2017
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome 198 33 0.110 None 1.000 1 2017 2017
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		disease Nervous System Diseases Disease or Syndrome 241 69 0.010 None 1.000 1 2019 2019
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		disease Eye Diseases Disease or Syndrome 94 56 0.010 None 1.000 1 2015 2015
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		disease Eye Diseases Disease or Syndrome 87 55 0.010 None 1.000 1 2015 2015
CUI: C0020639
Disease: Hypoproteinemia
Hypoproteinemia 		disease Hemic and Lymphatic Diseases Disease or Syndrome 24 4 0.010 None 1.000 1 2018 2018
CUI: C0027121
Disease: Myositis
Myositis 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 254 43 0.010 None 1.000 1 1993 1993
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.010 None 1.000 1 2017 2017
CUI: C0085684
Disease: Foot Drop
Foot Drop 		disease Nervous System Diseases Disease or Syndrome 3 0.010 None 1.000 1 2015 2015
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 670 283 0.100 None 1.000 1 1 2017 2017
CUI: C0238286
Disease: Mucolipidosis Type IV
Mucolipidosis Type IV 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 22 38 0.010 None 1.000 1 2012 2012
CUI: C0432185
Disease: Aplasia of muscle
Aplasia of muscle 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 13 0.010 None 1.000 1 2018 2018
CUI: C0455988
Disease: Hydrops Fetalis, Non-Immune
Hydrops Fetalis, Non-Immune 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 51 22 0.100 None 1.000 1 1 2015 2015
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 8 13 0.310 None 1.000 1 2017 2017
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42 0.010 None 1.000 1 2016 2016
CUI: C3710589
Disease: Cap Myopathy
Cap Myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome; Congenital Abnormality 9 4 0.010 None 1.000 1 2014 2014
CUI: C3807697
Disease: Bilateral foot drop
Bilateral foot drop 		disease Nervous System Diseases Disease or Syndrome 1 0.010 None 1.000 1 2015 2015
CUI: C4054726
Disease: Infant Leukemia
Infant Leukemia 		disease Neoplastic Process 27 0.010 None 1.000 1 2010 2010
CUI: C0005745
Disease: Blepharoptosis
Blepharoptosis 		disease Eye Diseases Disease or Syndrome 595 57 0.100 None 0
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality 611 158 0.100 None 0