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: 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: C0206526
Disease: Tuberculosis, Multidrug-Resistant
Tuberculosis, Multidrug-Resistant 		disease Infections Disease or Syndrome 67 8 0.060 None 0.833 6 2016 2019
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6941 3417 0.050 None 1.000 5 2006 2019
CUI: C0011570
Disease: Mental Depression
Mental Depression 		disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 1478 271 0.050 None 1.000 5 1986 2017
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1719 297 0.050 None 1.000 5 1986 2017
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.050 None 1.000 5 2000 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 6776 2793 0.050 None 1.000 5 2006 2019
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: 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: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 47 3 0.040 None 1.000 4 1991 2017
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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 3134 2672 0.030 None 1.000 3 2015 2019
CUI: C0041696
Disease: Unipolar Depression
Unipolar Depression 		disease Mental Disorders Mental or Behavioral Dysfunction 641 225 0.030 None 0.667 3 1982 1994
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: 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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2969 688 0.020 None 1.000 2 2007 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.020 None 1.000 2 2001 2002
CUI: C0010481
Disease: Cushing Syndrome
Cushing Syndrome 		disease Endocrine System Diseases Disease or Syndrome 126 9 0.020 None 1.000 2 2017 2019
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		disease Infections Disease or Syndrome 1256 328 0.020 None 1.000 2 2013 2015
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.020 None 1.000 2 2007 2019
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.020 None 1.000 2 1988 1994
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		disease Neoplasms Neoplastic Process 3197 186 0.020 None 1.000 2 2010 2018
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: C2267227
Disease: Bulimia Nervosa
Bulimia Nervosa 		disease Mental Disorders Mental or Behavioral Dysfunction 71 24 0.020 None 1.000 2 1984 1988