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: 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: 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: 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: C1697878
Disease: BK virus nephropathy
BK virus nephropathy
disease Infections Disease or Syndrome 12 0.010 None 1.000 1 2020 2020
CUI: C0011603
Disease: Dermatitis
Dermatitis
disease Skin and Connective Tissue Diseases Disease or Syndrome 496 16 0.010 None 1.000 1 2020 2020
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis
disease Skin and Connective Tissue Diseases Disease or Syndrome 382 6 0.010 None 1.000 1 2020 2020
CUI: C0025202
Disease: melanoma
melanoma
disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.984 191 4 1988 2019
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: 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
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: 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
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: C0030567
Disease: Parkinson Disease
Parkinson Disease
disease Nervous System Diseases Disease or Syndrome 2078 990 0.080 None 1.000 8 2005 2019
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
group Neoplasms Neoplastic Process 8621 1641 0.080 None 1.000 8 1987 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: C0877008
Disease: Enzyme inhibition disorder
Enzyme inhibition disorder
phenotype Disease or Syndrome 171 1 0.060 None 1.000 6 2018 2019
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: C0023418
Disease: leukemia
leukemia
disease Neoplasms Neoplastic Process 2111 144 0.040 None 1.000 4 1995 2019
CUI: C0025218
Disease: Chloasma
Chloasma
disease Skin and Connective Tissue Diseases Disease or Syndrome 25 0.040 None 1.000 4 2017 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.030 None 1.000 3 2001 2019
CUI: C1704421
Disease: Skin Pigmentation Disorder
Skin Pigmentation Disorder
group Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 21 0.030 None 1.000 3 2017 2019
CUI: C0079504
Disease: Hermanski-Pudlak Syndrome
Hermanski-Pudlak Syndrome
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 70 59 0.030 None 1.000 3 1999 2019