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.
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
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
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
Re-entrant atrioventricular tachycardia
disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C1836118
Disease: LEFT VENTRICULAR NONCOMPACTION 2
LEFT VENTRICULAR NONCOMPACTION 2
disease Disease or Syndrome 2 1 0.100 None 0 1
CUI: C4023223
Disease: Atrial reentry tachycardia
Atrial reentry tachycardia
phenotype Pathologic Function 2 2 0.100 None 0 2
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: C4024201
Disease: Low-output congestive heart failure
Low-output congestive heart failure
disease Cardiovascular Diseases Disease or Syndrome 3 1 0.100 None 0 1
CUI: C3805969
Disease: Scapular muscle atrophy
Scapular muscle atrophy
phenotype Finding 4 2 0.100 None 0 2
CUI: C4021054
Disease: Reduced muscle collagen VI
Reduced muscle collagen VI
phenotype Finding 5 2 0.100 None 0 2
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex
phenotype Finding 8 2 0.100 None 0 2
CUI: C1834481
Disease: CARDIOMYOPATHY, DILATED, 1S
CARDIOMYOPATHY, DILATED, 1S
disease Cardiovascular Diseases Disease or Syndrome 9 53 0.100 None 0 7
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: C0281788
Disease: Biventricular hypertrophy
Biventricular hypertrophy
disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 11 3 0.100 None 0 1
CUI: C1858033
Disease: Asymmetry of the thorax
Asymmetry of the thorax
phenotype Finding 12 4 0.100 None 0 2
CUI: C0004239
Disease: Atrial Flutter
Atrial Flutter
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 13 2 0.100 None 0 2
CUI: C1836767
Disease: Proximal lower limb amyotrophy
Proximal lower limb amyotrophy
phenotype Finding 15 4 0.100 None 0 2
CUI: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy
disease Cardiovascular Diseases Disease or Syndrome 17 5 0.100 None 0 2
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: 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: C0428974
Disease: Supraventricular arrhythmia
Supraventricular arrhythmia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome 19 2 0.100 None 0 1
CUI: C0749379
Disease: Thoracolumbar scoliosis
Thoracolumbar scoliosis
disease Musculoskeletal Diseases Disease or Syndrome 20 17 0.100 None 0 2
CUI: C0241237
Disease: Difficulty standing
Difficulty standing
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 21 14 0.100 None 0 2