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: 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: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder) 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 24 0.720 None 1.000 11 24 1990 2017
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: 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: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) 		disease Disease or Syndrome 2 14 0.600 None 1.000 2 13 1997 2017
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder) 		phenotype Finding 1 13 0.400 None 1.000 1 13 2017 2017
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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.984 191 4 1988 2019
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
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1236 1451 0.100 None 1.000 2 3 2018 2018
CUI: C0037290
Disease: Skin Pigmentation
Skin Pigmentation 		phenotype Organ or Tissue Function 24 72 0.100 None 1.000 2 3 2007 2018
CUI: C2673946
Disease: Foveal hypoplasia (finding)
Foveal hypoplasia (finding) 		phenotype Finding 25 4 0.100 None 0 3
CUI: C0600518
Disease: Choroidal Neovascularization
Choroidal Neovascularization 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases Pathologic Function 31 3 0.100 None 0 3
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0 3
CUI: C1853141
Disease: Slow decrease in visual acuity
Slow decrease in visual acuity 		phenotype Finding 27 3 0.100 None 0 3
CUI: C1848701
Disease: Elevated hepatic transaminase
Elevated hepatic transaminase 		phenotype Finding 212 9 0.100 None 0 3
CUI: C0271385
Disease: Horizontal Nystagmus
Horizontal Nystagmus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 48 11 0.100 None 0 3
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: C0151779
Disease: Cutaneous Melanoma
Cutaneous Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 507 248 0.200 None 1.000 14 2 1995 2019
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		disease Neoplasms Neoplastic Process 2507 257 0.110 None 1.000 3 2 2009 2019
CUI: C0406208
Disease: Suntan
Suntan 		phenotype Organ or Tissue Function 53 94 0.100 None 1.000 3 2 2009 2018
CUI: C0015396
Disease: Eye Color
Eye Color 		phenotype Organism Attribute 13 31 0.100 None 1.000 2 2 2007 2010
CUI: C0268500
Disease: Yellow mutant oculocutaneous albinism
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: C0027092
Disease: Myopia
Myopia 		disease Eye Diseases Disease or Syndrome 490 167 0.110 None 1.000 1 2 2018 2018