TYR, tyrosinase, 7299

N. diseases: 281; N. variants: 121
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: C0086543
Disease: Cataract
Cataract
disease Eye Diseases Acquired Abnormality 878 124 0.010 None 1.000 1 2017 2017
CUI: C0152459
Disease: Linear atrophy
Linear atrophy
disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 149 6 0.010 None 1.000 1 2018 2018
CUI: C1285498
Disease: Vegetation
Vegetation
disease Anatomical Abnormality 67 0.010 None 1.000 1 2018 2018
CUI: C4316870
Disease: Abnormality of the eye
Abnormality of the eye
phenotype Anatomical Abnormality 56 29 0.100 None 1.000 1 1 2005 2005
CUI: C0078918
Disease: Albinism, Oculocutaneous
Albinism, Oculocutaneous
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 49 45 0.900 strong 0.982 112 15 1981 2019
CUI: C0026010
Disease: Microphthalmos
Microphthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 337 40 0.100 None 1.000 13 1995 2020
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos
disease Congenital Abnormality 3 0.200 None 1.000 11 1981 2011
CUI: C0268503
Disease: Autosomal recessive ocular albinism
Autosomal recessive ocular albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 4 0.070 None 0.857 7 1 1987 2015
CUI: C0078917
Disease: Albinism, Ocular
Albinism, Ocular
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 37 10 0.140 None 1.000 4 6 2008 2017
CUI: C0078921
Disease: Albinism, Tyrosinase-Negative
Albinism, Tyrosinase-Negative
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.310 None 1.000 3 1989 1997
CUI: C0078922
Disease: Albinism, Tyrosinase-Positive
Albinism, Tyrosinase-Positive
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 2 0.300 None 1.000 2 1989 1997
Yellow mutant oculocutaneous albinism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 1 2 0.020 None 1.000 2 2 1991 1999
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality
group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73 0.010 None 1.000 1 2006 2006
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 1991 1991
CUI: C0013274
Disease: Patent ductus arteriosus
Patent ductus arteriosus
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality 510 56 0.010 None 1.000 1 2019 2019
CUI: C0020302
Disease: Hydrophthalmos
Hydrophthalmos
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality 60 11 0.010 None 1.000 1 2006 2006
CUI: C0080024
Disease: Piebaldism
Piebaldism
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Congenital Abnormality 33 18 0.010 None 1.000 1 2009 2009
CUI: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation
disease Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C0040420
Disease: Tonometry
Tonometry
phenotype Diagnostic Procedure 206 573 0.100 None 1.000 1 2 2018 2018
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
Oculocutaneous albinism type 1A
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 21 101 0.800 None 1.000 48 101 1989 2017
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 0.400 None 0.921 38 14 1980 2019
CUI: C0268494
Disease: Oculocutaneous albinism type 1
Oculocutaneous albinism type 1
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 4 2 0.700 limited 1.000 34 2 1991 2018
CUI: C0042900
Disease: Vitiligo
Vitiligo
disease Skin and Connective Tissue Diseases Disease or Syndrome 395 249 0.200 None 1.000 23 3 1994 2019
CUI: C0162835
Disease: Hypopigmentation disorder
Hypopigmentation disorder
disease Skin and Connective Tissue Diseases Disease or Syndrome 126 15 0.200 None 1.000 22 3 1987 2020
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
disease Skin and Connective Tissue Diseases Disease or Syndrome 302 92 0.100 None 1.000 19 1994 2019