DST, dystonin, 667

N. diseases: 147; N. variants: 19
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: C0333068
Disease: Flexion contracture
Flexion contracture
disease Musculoskeletal Diseases Finding 210 32 0.100 None 0
CUI: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 0.100 None 0
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 285 44 0.100 None 0
CUI: C0349702
Disease: Corneal Scar
Corneal Scar
phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension
phenotype Finding 4 2 0.100 None 0
CUI: C0344505
Disease: Alacrima
Alacrima
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 16 1 0.100 None 0
CUI: C0428977
Disease: Bradycardia
Bradycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 63 2 0.100 None 0
CUI: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 0.100 None 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 169 45 0.100 None 0
CUI: C0039231
Disease: Tachycardia
Tachycardia
phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding 73 8 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 0.100 None 0
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome 116 15 0.100 None 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding 201 16 0.100 None 0
CUI: C0003578
Disease: Apnea
Apnea
phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom 262 11 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0456070
Disease: Growth delay
Growth delay
phenotype Pathologic Function 244 40 0.100 None 0
CUI: C4024831
Disease: Blotching pigmentation of the skin
Blotching pigmentation of the skin
phenotype Finding 2 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0
CUI: C0239815
Disease: Hand clenching
Hand clenching
phenotype Finding 26 9 0.100 None 0
CUI: C0525045
Disease: Mood Disorders
Mood Disorders
group Mental Disorders Mental or Behavioral Dysfunction 580 308 0.020 None 0.500 2 1984 1984
CUI: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa
disease Mental Disorders Mental or Behavioral Dysfunction 71 24 0.020 None 1.000 2 1984 1988
CUI: C0006370
Disease: Bulimia
Bulimia
disease Pathological Conditions, Signs and Symptoms Mental or Behavioral Dysfunction 76 30 0.020 None 1.000 2 1984 1988
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic
disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 577 441 0.010 None 1.000 1 1989 1989
CUI: C0079301
Disease: Junctional Epidermolysis Bullosa
Junctional Epidermolysis Bullosa
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 16 9 0.010 None 1.000 1 1991 1991