TTN-AS1, TTN antisense RNA 1, 100506866

N. diseases: 112; N. variants: 626
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: C4021765
Disease: Morphological abnormality of the central nervous system
Morphological abnormality of the central nervous system 		group Anatomical Abnormality 10 7 0.100 None 0 1
CUI: C4021803
Disease: Abnormal eyelid morphology
Abnormal eyelid morphology 		disease Anatomical Abnormality 10 3 0.100 None 0 2
CUI: C0042834
Disease: Vital capacity
Vital capacity 		phenotype Clinical Attribute 430 746 0.100 None 1.000 1 1 2019 2019
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 251 350 0.100 None 1.000 14 2 1991 2014
CUI: C0018817
Disease: Atrial Septal Defects
Atrial Septal Defects 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 384 96 0.100 None 0 1
CUI: C0079352
Disease: Congenital torticollis
Congenital torticollis 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality 19 6 0.100 None 0 2
CUI: C0221217
Disease: Neck webbing
Neck webbing 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 78 19 0.100 None 0 2
CUI: C1837342
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2J 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 2 230 0.100 None 1.000 38 229 2002 2018
CUI: C1858763
Disease: Cardiomyopathy, Dilated, 1g
Cardiomyopathy, Dilated, 1g 		disease Cardiovascular Diseases Disease or Syndrome 2 308 0.100 None 1.000 37 304 2002 2018
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		group Cardiovascular Diseases Disease or Syndrome 512 509 0.100 None 1.000 15 229 2002 2019
CUI: C1863599
Disease: Hereditary Myopathy with Early Respiratory Failure
Hereditary Myopathy with Early Respiratory Failure 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Nervous System Diseases Disease or Syndrome 3 16 0.100 None 1.000 4 15 2012 2014
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 939 584 0.400 None 1.000 3 3 2018 2018
CUI: C0175709
Disease: Centronuclear myopathy
Centronuclear myopathy 		disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 40 13 0.100 None 1.000 2 2 2012 2015
CUI: C0027868
Disease: Neuromuscular Diseases
Neuromuscular Diseases 		group Nervous System Diseases Disease or Syndrome 171 50 0.100 None 1.000 1 1 2013 2013
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		group Infections Disease or Syndrome 384 72 0.100 None 1.000 1 1 2017 2017
CUI: C0235480
Disease: Paroxysmal atrial fibrillation
Paroxysmal atrial fibrillation 		disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 226 8 0.300 None 1.000 1 2018 2018
CUI: C0398738
Disease: Leukocyte adhesion deficiency type 1
Leukocyte adhesion deficiency type 1 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 114 26 0.010 None 1.000 1 2019 2019
CUI: C1838244
Disease: TIBIAL MUSCULAR DYSTROPHY, TARDIVE
TIBIAL MUSCULAR DYSTROPHY, TARDIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 18 18 0.100 None 1.000 1 18 2012 2012
CUI: C1861065
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 2 7 0.100 None 1.000 1 6 2012 2012
CUI: C2673677
Disease: Myopathy, Early-Onset, with Fatal Cardiomyopathy
Myopathy, Early-Onset, with Fatal Cardiomyopathy 		disease Musculoskeletal Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 2 11 0.100 None 1.000 1 10 2012 2012
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		disease Cardiovascular Diseases Disease or Syndrome 1760 165 0.100 None 0 1
CUI: C0023212
Disease: Left-Sided Heart Failure
Left-Sided Heart Failure 		disease Cardiovascular Diseases Disease or Syndrome 123 5 0.100 None 0 2
CUI: C0026848
Disease: Myopathy
Myopathy 		group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 634 166 0.100 None 0 8
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 0.100 None 0 2
CUI: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.100 None 0 2