DCT, dopachrome tautomerase, 1638

N. diseases: 59; N. variants: 4
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: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.010 None 1.000 1 2003 2003
CUI: C4329281
Disease: Advanced Malignant Solid Neoplasm
Advanced Malignant Solid Neoplasm 		disease Neoplastic Process 8 0.010 None 1.000 1 2017 2017
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease 		group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47 0.010 None 1.000 1 1980 1980
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome 852 704 0.010 None 1.000 1 2019 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.020 None 1.000 2 2018 2019
CUI: C0038017
Disease: Congenital spondylolisthesis
Congenital spondylolisthesis 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 17 1 0.010 None 1.000 1 2011 2011
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 978 115 0.010 None 1.000 1 2019 2019
CUI: C0001916
Disease: Albinism
Albinism 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 46 27 0.010 None 1.000 1 1993 1993
CUI: C1876214
Disease: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 54 6 0.010 None 1.000 1 1998 1998
CUI: C3714534
Disease: dowling-degos disease
dowling-degos disease 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome 53 7 0.020 None 1.000 2 2005 2016
CUI: C0566602
Disease: Primary sclerosing cholangitis
Primary sclerosing cholangitis 		disease Digestive System Diseases Disease or Syndrome 264 58 0.010 None 1.000 1 2017 2017
CUI: C0271728
Disease: Secondary hyperaldosteronism
Secondary hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 4 4 0.010 None 1.000 1 2017 2017
CUI: C0035309
Disease: Retinal Diseases
Retinal Diseases 		group Eye Diseases Disease or Syndrome 714 56 0.010 None 1.000 1 2010 2010
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		disease Eye Diseases Disease or Syndrome 67 9 0.010 None 1.000 1 2017 2017
CUI: C0018213
Disease: Graves Disease
Graves Disease 		disease Eye Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 585 352 0.010 None 1.000 1 1997 1997
CUI: C0004775
Disease: Bartter Disease
Bartter Disease 		disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 47 8 0.010 None 1.000 1 2017 2017
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		group Immune System Diseases Disease or Syndrome 1758 428 0.010 None 1.000 1 1997 1997
CUI: C0342158
Disease: Hypothyroidism, Autoimmune
Hypothyroidism, Autoimmune 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 17 2 0.010 None 1.000 1 1997 1997
CUI: C0343641
Disease: Human papilloma virus infection
Human papilloma virus infection 		disease Infections Disease or Syndrome 429 42 0.010 None 1.000 1 2017 2017
CUI: C1318711
Disease: Herpes simplex type 1 infection
Herpes simplex type 1 infection 		disease Infections; Skin and Connective Tissue Diseases Disease or Syndrome 7 0.010 None 1.000 1 2018 2018
CUI: C0158266
Disease: Intervertebral Disc Degeneration
Intervertebral Disc Degeneration 		disease Musculoskeletal Diseases Disease or Syndrome 342 47 0.040 None 0.750 4 2005 2015
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome 		disease Musculoskeletal Diseases Disease or Syndrome 16 3 0.010 None 1.000 1 1987 1987
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2011 2011
CUI: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.100 None 0.977 44 1994 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 1.000 22 1999 2019