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: 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: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327 0.100 None 1.000 25 1993 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: C0278883
Disease: Metastatic melanoma
Metastatic melanoma 		disease Neoplasms Neoplastic Process 504 42 0.100 None 1.000 19 1994 2018
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
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
CUI: C0037274
Disease: Dermatologic disorders
Dermatologic disorders 		group Skin and Connective Tissue Diseases Disease or Syndrome 617 21 0.100 None 1.000 15 2017 2020
CUI: C2939419
Disease: Secondary Neoplasm
Secondary Neoplasm 		group Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 2492 85 0.100 None 1.000 15 1993 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: C0677944
Disease: Sentinel node (disorder)
Sentinel node (disorder) 		disease Disease or Syndrome 130 5 0.100 None 1.000 13 1999 2008
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: 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: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease Congenital Abnormality 3 0.200 None 1.000 11 1981 2011
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 0.090 None 1.000 9 1987 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		group Neoplasms Neoplastic Process 8621 1641 0.080 None 1.000 8 1987 2019
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		disease Nervous System Diseases Disease or Syndrome 2078 990 0.080 None 1.000 8 2005 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		group Neoplasms Neoplastic Process 8221 1374 0.070 None 1.000 7 1987 2019
CUI: C0206735
Disease: Melanoma, Amelanotic
Melanoma, Amelanotic 		disease Neoplasms Neoplastic Process 19 2 0.070 None 1.000 7 1993 2012
CUI: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder 		phenotype Disease or Syndrome 171 1 0.060 None 1.000 6 2018 2019
CUI: C0349515
Disease: Amelanotic Skin Melanoma
Amelanotic Skin Melanoma 		disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 13 0.050 None 1.000 5 1993 2012
CUI: C0549567
Disease: Pigmentation Disorders
Pigmentation Disorders 		group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 16 0.050 None 1.000 5 2017 2019
CUI: C0004565
Disease: Melanoma, B16
Melanoma, B16 		disease Neoplasms Neoplastic Process; Experimental Model of Disease 157 1 0.050 None 1.000 5 1988 2018
CUI: C0220633
Disease: Uveal melanoma
Uveal melanoma 		disease Neoplasms; Eye Diseases Neoplastic Process 376 22 0.050 None 1.000 5 1993 2010
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72 0.050 None 1.000 5 1996 2014