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: C1321329
Disease: Slowed saccades
Slowed saccades 		phenotype Finding 29 4 0.100 None 0 2
CUI: C1837658
Disease: Gross motor development delay
Gross motor development delay 		disease Mental Disorders Disease or Syndrome 118 59 0.100 None 0 3
CUI: C3277184
Disease: Decreased patellar reflex
Decreased patellar reflex 		phenotype Finding 8 2 0.100 None 0 2
CUI: C0340477
Disease: Re-entrant atrioventricular tachycardia
Re-entrant atrioventricular tachycardia 		disease Disease or Syndrome 2 2 0.100 None 0 2
CUI: C0340427
Disease: Familial dilated cardiomyopathy
Familial dilated cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 83 47 0.100 None 0 13
CUI: C1839630
Disease: Severe muscular hypotonia
Severe muscular hypotonia 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 75 9 0.100 None 0 1
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: C1839832
Disease: Noncompaction cardiomyopathy
Noncompaction cardiomyopathy 		disease Cardiovascular Diseases Disease or Syndrome 17 5 0.100 None 0 2
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide 		phenotype Finding 429 29 0.100 None 0 1
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
CUI: C1853932
Disease: Rimmed vacuoles on biopsy
Rimmed vacuoles on biopsy 		phenotype Finding 28 2 0.100 None 0 1
CUI: C1856872
Disease: Down-sloping shoulders
Down-sloping shoulders 		phenotype Finding 32 4 0.100 None 0 2
CUI: C0235063
Disease: Respiratory Depression
Respiratory Depression 		phenotype Respiratory Tract Diseases Pathologic Function 24 5 0.100 None 0 2
CUI: C0234182
Disease: Gowers sign
Gowers sign 		phenotype Finding 54 8 0.100 None 0 1
CUI: C0234146
Disease: Absent reflex
Absent reflex 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0 2
CUI: C0231712
Disease: Waddling gait
Waddling gait 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 113 8 0.100 None 0 2
CUI: C0423112
Disease: Short palpebral fissure
Short palpebral fissure 		phenotype Finding 91 16 0.100 None 0 1
CUI: C0427063
Disease: Shoulder girdle weakness
Shoulder girdle weakness 		phenotype Finding 39 4 0.100 None 0 2
CUI: C0427065
Disease: Distal muscle weakness
Distal muscle weakness 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 117 16 0.100 None 0 1
CUI: C1698196
Disease: Muscle Weakness Upper Limb
Muscle Weakness Upper Limb 		phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Finding 29 3 0.100 None 0 2
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		group Cardiovascular Diseases Disease or Syndrome 925 294 0.100 None 0 28
CUI: C0856863
Disease: Broad-based gait
Broad-based gait 		phenotype Finding 75 24 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: C0702166
Disease: Acne
Acne 		disease Skin and Connective Tissue Diseases Disease or Syndrome 167 11 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