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: 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: 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: C0333008
Disease: Congenital hypopigmentation
Congenital hypopigmentation 		disease Skin and Connective Tissue Diseases Congenital Abnormality 1 0.010 None 1.000 1 2009 2009
CUI: C0346977
Disease: Secondary malignant neoplasm of spleen
Secondary malignant neoplasm of spleen 		disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 1 0.010 None 1.000 1 2000 2000
CUI: C1313983
Disease: Acute contagious conjunctivitis
Acute contagious conjunctivitis 		disease Pathological Conditions, Signs and Symptoms; Infections; Eye Diseases Disease or Syndrome 1 0.010 None 1.000 1 2007 2007
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: C1847132
Disease: ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 1 2 0.100 None 0 2
CUI: C2673954
Disease: Absent skin pigmentation
Absent skin pigmentation 		phenotype Skin and Connective Tissue Diseases Finding 1 0.100 None 0
CUI: C3149136
Disease: SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES
SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYES 		phenotype Finding 1 1 0.100 None 0 1
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: 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
CUI: C0078923
Disease: Albinism, Yellow-Mutant
Albinism, Yellow-Mutant 		phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Finding 2 0.300 None 1.000 2 1989 1997
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: C0022078
Disease: Iris Diseases
Iris Diseases 		group Eye Diseases Disease or Syndrome 2 0.010 None 1.000 1 2006 2006
CUI: C0221436
Disease: Melanoderma (disorder)
Melanoderma (disorder) 		disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C0339619
Disease: Congenital esotropia
Congenital esotropia 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Disease or Syndrome 2 2 0.010 None 1.000 1 2003 2003
CUI: C0342552
Disease: Autoimmune endocrine disease
Autoimmune endocrine disease 		disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 2 0.010 None 1.000 1 1994 1994
CUI: C2931599
Disease: Oculocutaneous albinism type 3
Oculocutaneous albinism type 3 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 2 0.010 None 1.000 1 2004 2004
CUI: C4525234
Disease: Xiphophorus Melanoma
Xiphophorus Melanoma 		disease Neoplastic Process 2 0.010 None 1.000 1 2003 2003
CUI: C3152204
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8
MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 		disease Finding 2 2 0.100 None 0 1
CUI: C0311251
Disease: Simple buphthalmos
Simple buphthalmos 		disease Congenital Abnormality 3 0.200 None 1.000 11 1981 2011
CUI: C0278881
Disease: stage II melanoma
stage II melanoma 		disease Neoplastic Process 3 0.020 None 1.000 2 2000 2005
CUI: C4520731
Disease: Stage II Cutaneous Melanoma AJCC v6 and v7
Stage II Cutaneous Melanoma AJCC v6 and v7 		disease Neoplastic Process 3 0.020 None 1.000 2 2000 2005
CUI: C4053528
Disease: Cribriform Neuroepithelial Tumor
Cribriform Neuroepithelial Tumor 		disease Neoplasms Neoplastic Process 3 0.010 None 1.000 1 2017 2017