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: C3809470
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 		disease Disease or Syndrome 1 6 0.600 None 1.000 3 6 2010 2015
CUI: C3539003
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI
NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI 		disease Disease or Syndrome 2 11 0.710 limited 1.000 5 11 2010 2017
CUI: C0406653
Disease: Eosinophilic spongiosis
Eosinophilic spongiosis 		disease Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4287840
Disease: Pre-Extensively Drug-Resistant Tuberculosis
Pre-Extensively Drug-Resistant Tuberculosis 		disease Infections Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4024831
Disease: Blotching pigmentation of the skin
Blotching pigmentation of the skin 		phenotype Finding 2 0.100 None 0
CUI: C1832926
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE (disorder)
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: C3553368
Disease: Limited hip extension
Limited hip extension 		phenotype Finding 4 2 0.100 None 0
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 7 28 0.010 None 1.000 1 2010 2010
CUI: C0019343
Disease: Pemphigoid Gestationis
Pemphigoid Gestationis 		phenotype Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases Disease or Syndrome 8 0.010 None 1.000 1 2018 2018
CUI: C0406632
Disease: Autoimmune skin disease
Autoimmune skin disease 		disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 9 0.020 None 1.000 2 2000 2017
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		group Skin and Connective Tissue Diseases Disease or Syndrome 10 1 0.010 None 1.000 1 2010 2010
CUI: C4524839
Disease: Recurrent Head and Neck Squamous Cell Carcinoma
Recurrent Head and Neck Squamous Cell Carcinoma 		disease Neoplasms Neoplastic Process 10 0.010 None 1.000 1 2018 2018
CUI: C0349515
Disease: Amelanotic Skin Melanoma
Amelanotic Skin Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.010 None 1.000 1 2000 2000
CUI: C0349702
Disease: Corneal Scar
Corneal Scar 		phenotype Eye Diseases; Nervous System Diseases; Wounds and Injuries Finding 14 0.100 None 0
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
CUI: C0342288
Disease: Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Insulin-dependent diabetes mellitus secretory diarrhea syndrome 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 16 18 0.010 None 1.000 1 2018 2018
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: C0334409
Disease: Leydig cell tumor, benign
Leydig cell tumor, benign 		disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 18 0.010 None 1.000 1 2019 2019
CUI: C0206735
Disease: Melanoma, Amelanotic
Melanoma, Amelanotic 		disease Neoplasms Neoplastic Process 19 2 0.010 None 1.000 1 2000 2000
CUI: C0162154
Disease: Atrophic scar
Atrophic scar 		phenotype Pathological Conditions, Signs and Symptoms Pathologic Function 23 3 0.100 None 0
CUI: C0027889
Disease: Hereditary Sensory and Autonomic Neuropathies
Hereditary Sensory and Autonomic Neuropathies 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 25 6 0.060 None 1.000 6 2014 2020
CUI: C0239815
Disease: Hand clenching
Hand clenching 		phenotype Finding 26 9 0.100 None 0
CUI: C1827301
Disease: Extensively Drug-Resistant Tuberculosis
Extensively Drug-Resistant Tuberculosis 		phenotype Infections Disease or Syndrome 29 0.020 None 1.000 2 2017 2019
CUI: C0259749
Disease: Autonomic neuropathy
Autonomic neuropathy 		disease Nervous System Diseases Disease or Syndrome 29 7 0.010 None 1.000 1 2014 2014
CUI: C1849718
Disease: POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE
POPLITEAL PTERYGIUM SYNDROME, LETHAL TYPE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 29 5 0.010 None 1.000 1 2019 2019