DES, desmin, 1674

N. diseases: 330; N. variants: 63
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: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
group Nervous System Diseases Disease or Syndrome 1515 85 0.010 None 1.000 1 2017 2017
CUI: C0334483
Disease: Adult rhabdomyoma
Adult rhabdomyoma
disease Neoplasms; Musculoskeletal Diseases Neoplastic Process 1 0.010 None < 0.001 1 2018 2018
CUI: C0334463
Disease: Malignant Fibrous Histiocytoma
Malignant Fibrous Histiocytoma
disease Neoplasms Neoplastic Process 150 3 0.010 None 1.000 1 2002 2002
CUI: C0334361
Disease: Serous surface papillary carcinoma
Serous surface papillary carcinoma
disease Neoplasms Neoplastic Process 14 0.010 None 1.000 1 2016 2016
CUI: C0334299
Disease: Carcinoid tumor no ICD-O subtype
Carcinoid tumor no ICD-O subtype
phenotype Neoplasms Neoplastic Process 122 0.010 None 1.000 1 2013 2013
CUI: C0334267
Disease: Transitional cell carcinoma in situ
Transitional cell carcinoma in situ
disease Neoplasms Neoplastic Process 15 0.010 None 1.000 1 2013 2013
CUI: C0332853
Disease: Anastomosis
Anastomosis
disease Acquired Abnormality 155 2 0.010 None 1.000 1 2018 2018
CUI: C0282193
Disease: Iron Overload
Iron Overload
disease Nutritional and Metabolic Diseases Disease or Syndrome 241 53 0.010 None 1.000 1 2018 2018
CUI: C0280631
Disease: Leiomyosarcoma of uterus
Leiomyosarcoma of uterus
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 71 0.010 None 1.000 1 2017 2017
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma
disease Neoplasms Neoplastic Process 154 19 0.010 None 1.000 1 1995 1995
CUI: C0280100
Disease: Solid Neoplasm
Solid Neoplasm
phenotype Neoplasms Neoplastic Process 1145 24 0.010 None 1.000 1 1995 1995
CUI: C0279986
Disease: Childhood Leiomyosarcoma
Childhood Leiomyosarcoma
disease Neoplasms Neoplastic Process 140 1 0.010 None 1.000 1 2004 2004
Generalized glycogen storage disease of infants
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 51 16 0.010 None 1.000 1 2015 2015
Glycogen storage disease due to acid maltase deficiency, late-onset
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 8 0.010 None 1.000 1 2015 2015
CUI: C0344893
Disease: Right ventricular dilatation
Right ventricular dilatation
disease Congenital Abnormality 6 1 0.010 None 1.000 1 2015 2015
CUI: C0521720
Disease: Corneal fibrosis
Corneal fibrosis
disease Eye Diseases Disease or Syndrome 17 0.010 None 1.000 1 2019 2019
CUI: C0432284
Disease: Infantile myofibromatosis
Infantile myofibromatosis
disease Neoplasms Disease or Syndrome 18 10 0.010 None < 0.001 1 1992 1992
CUI: C0431406
Disease: Asymmetric crying face association
Asymmetric crying face association
disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome 25 2 0.010 None 1.000 1 2017 2017
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy (disorder)
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 10 74 0.010 None 1.000 1 2007 2007
CUI: C0410158
Disease: Muscle damage
Muscle damage
phenotype Acquired Abnormality 163 4 0.010 None 1.000 1 2012 2012
CUI: C0392784
Disease: Dermatofibrosarcoma Protuberans
Dermatofibrosarcoma Protuberans
disease Neoplasms Neoplastic Process 78 0.010 None < 0.001 1 2003 2003
CUI: C0392400
Disease: Diffuse malignant mesothelioma
Diffuse malignant mesothelioma
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 7 0.010 None 1.000 1 2017 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2016 2016
CUI: C0346200
Disease: Intravenous leiomyomatosis
Intravenous leiomyomatosis
disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process 6 0.010 None 1.000 1 2018 2018
Malignant Mesothelioma of Peritoneum
disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 65 2 0.010 None 1.000 1 2016 2016