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.
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
disease Disease or Syndrome 2 11 0.710 limited 1.000 5 11 2010 2017
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
disease Disease or Syndrome 1 6 0.600 None 1.000 3 6 2010 2015
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
Epidermolysis Bullosa Simplex
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 30 33 0.320 strong 1.000 4 1991 2017
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 4 0.320 None 1.000 2 2010 2015
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease
disease Nervous System Diseases; Mental Disorders Disease or Syndrome 3397 1843 0.130 None 1.000 4 1 2016 2019
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid
disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 127 11 0.100 None 1.000 55 2 1990 2020
CUI: C0005890
Disease: Body Height
Body Height
phenotype Organism Attribute 1903 3972 0.100 None 1.000 1 1 2019 2019
CUI: C1314691
Disease: Age at menarche
Age at menarche
phenotype Behavior and Behavior Mechanisms Finding 267 591 0.100 None 1.000 1 1 2014 2014
CUI: C1518922
Disease: peak expiratory flow (procedure)
peak expiratory flow (procedure)
phenotype Laboratory Procedure 74 119 0.100 None 1.000 1 1 2019 2019
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function
phenotype Organ or Tissue Function 272 1169 0.100 None 1.000 1 1 2019 2019
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
phenotype Laboratory Procedure 717 1599 0.100 None 1.000 1 1 2019 2019
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: 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: C0015967
Disease: Fever
Fever
phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 1021 66 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: C0020458
Disease: Hyperhidrosis disorder
Hyperhidrosis disorder
phenotype Skin and Connective Tissue Diseases Finding 114 7 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: C0162154
Disease: Atrophic scar
Atrophic scar
phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0232466
Disease: Feeding difficulties
Feeding difficulties
phenotype Finding 473 62 0.100 None 0
CUI: C0035229
Disease: Respiratory Insufficiency
Respiratory Insufficiency
phenotype Respiratory Tract Diseases Pathologic Function 315 15 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: C0349702
Disease: Corneal Scar
Corneal Scar
phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 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: C0239815
Disease: Hand clenching
Hand clenching
phenotype Finding 26 9 0.100 None 0
CUI: C0240379
Disease: Open mouth (finding)
Open mouth (finding)
phenotype Finding 96 11 0.100 None 0