DST, dystonin, 667

N. diseases: 88; N. variants: 6
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.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
disease Disease or Syndrome 4 2 0.600 2 2 2012 2017
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
disease Disease or Syndrome 1 2 0.400 2 2 2012 2017
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 5 0.320 1.000 2 2010 2015
CUI: C0151313
Disease: Sensory neuropathy
Sensory neuropathy
disease Disease or Syndrome 80 8 0.120 1.000 2 2012 2014
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
disease Immune System Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 59 0.100 0.920 26 1990 2018
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Mental Disorders; Nervous System Diseases Disease or Syndrome 1981 1062 0.100 1 1 2017 2017
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Finding 89 251 0.100 1 1 2014 2014
CUI: C0239815
Disease: Hand clenching
Hand clenching
phenotype Finding 9 0.100 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 64 1 0.100 0
CUI: C0234146
Disease: Absent reflex
Absent reflex
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 238 16 0.100 0
CUI: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathologic Function 20 1 0.100 0
CUI: C0151686
Disease: Growth retardation
Growth retardation
phenotype Pathologic Function 167 0.100 0
CUI: C4020868
Disease: Elevated heart rate
Elevated heart rate
phenotype Finding 27 0.100 0
CUI: C0039231
Disease: Tachycardia
Tachycardia
phenotype Cardiovascular Diseases; Pathological Conditions, Signs and Symptoms Finding 52 1 0.100 0
CUI: C0038990
Disease: Sweating
Sweating
phenotype Finding 96 0.100 0
CUI: C0344505
Disease: Alacrima
Alacrima
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome 11 2 0.100 0
CUI: C0241772
Disease: Reflex, Deep Tendon, Absent
Reflex, Deep Tendon, Absent
phenotype Nervous System Diseases; Pathological Conditions, Signs and Symptoms Finding 136 0.100 0
CUI: C0278124
Disease: Absent tendon reflex
Absent tendon reflex
phenotype Finding 133 0.100 0
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
phenotype Anatomical Abnormality 135 0.100 0
CUI: C4020855
Disease: Respiratory function loss
Respiratory function loss
phenotype Pathologic Function 169 0.100 0
CUI: C3553368
Disease: Limited hip extension
Limited hip extension
phenotype Finding 4 0.100 0
CUI: C3552463
Disease: Very poor growth
Very poor growth
phenotype Sign or Symptom 173 10 0.100 0
CUI: C2267233
Disease: Neonatal Hypotonia
Neonatal Hypotonia
disease Nervous System Diseases; Pathological Conditions, Signs and Symptoms Disease or Syndrome 111 19 0.100 0
CUI: C1837385
Disease: Poor growth
Poor growth
phenotype Finding 167 0.100 0