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: C0271728
Disease: Secondary hyperaldosteronism
Secondary hyperaldosteronism 		disease Endocrine System Diseases Disease or Syndrome 4 4 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: C4329281
Disease: Advanced Malignant Solid Neoplasm
Advanced Malignant Solid Neoplasm 		disease Neoplastic Process 8 0.010 None 1.000 1 2017 2017
CUI: C0410632
Disease: Schmorl's nodes
Schmorl's nodes 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 11 2 0.010 None 1.000 1 2002 2002
CUI: C1708773
Disease: Lung Melanoma
Lung Melanoma 		disease Neoplasms; Respiratory Tract Diseases Neoplastic Process 12 0.010 None 1.000 1 2017 2017
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: 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: 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: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.010 None 1.000 1 2014 2014
CUI: C0036396
Disease: Sciatica
Sciatica 		phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 24 4 0.020 None 1.000 2 2002 2006
CUI: C0038016
Disease: Spondylolisthesis
Spondylolisthesis 		disease Musculoskeletal Diseases Disease or Syndrome 28 1 0.010 None 1.000 1 2011 2011
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: 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: C0221775
Disease: Lumbar disc disease
Lumbar disc disease 		disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 49 30 0.040 None 0.500 4 2006 2016
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: 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: 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: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 118 20 0.010 None 1.000 1 2017 2017
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder 		disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.030 None 1.000 3 1998 2013
CUI: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.010 None 1.000 1 2003 2003
CUI: C0019270
Disease: Hernia
Hernia 		phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 136 10 0.010 None 1.000 1 2005 2005
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 157 1 0.080 None 1.000 8 1999 2018
CUI: C0158252
Disease: Intervertebral disc disorder
Intervertebral disc disorder 		group Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Disease or Syndrome 188 19 0.010 None 1.000 1 2014 2014
CUI: C0236642
Disease: Pick Disease of the Brain
Pick Disease of the Brain 		disease Nervous System Diseases; Mental Disorders Disease or Syndrome 213 83 0.010 None 1.000 1 2019 2019
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