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: C0578626
Disease: blue iris (physical finding)
blue iris (physical finding) 		phenotype Finding 28 2 0.100 None 0
CUI: C4021768
Disease: Abnormality of metabolism/homeostasis
Abnormality of metabolism/homeostasis 		phenotype Finding 171 5 0.100 None 0 3
CUI: C0085636
Disease: Photophobia
Photophobia 		phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom 227 7 0.100 None 0
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: 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: C0522214
Disease: Abnormal visual evoked potential
Abnormal visual evoked potential 		phenotype Nervous System Diseases Finding 55 5 0.100 None 0
CUI: C4553962
Disease: Hyperkeratosis, CTCAE
Hyperkeratosis, CTCAE 		phenotype Finding 87 0.100 None 0
CUI: C3278401
Disease: Hypopigmentation of hair
Hypopigmentation of hair 		phenotype Finding 23 1 0.100 None 0 1
CUI: C4554036
Disease: Nystagmus, CTCAE 5.0
Nystagmus, CTCAE 5.0 		phenotype Finding 779 0.100 None 0
CUI: C1845069
Disease: ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) 		disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome; Congenital Abnormality 3 2 0.300 None 0 1
CUI: C1328931
Disease: Multiple lentigines
Multiple lentigines 		disease Disease or Syndrome 13 12 0.100 None 0
CUI: C4024172
Disease: Abnormality of hair pigmentation
Abnormality of hair pigmentation 		phenotype Finding 5 2 0.100 None 0 1
CUI: C0038379
Disease: Strabismus
Strabismus 		disease Eye Diseases; Nervous System Diseases Disease or Syndrome 716 89 0.100 None 0 2
CUI: C1848606
Disease: Vestibular hypofunction
Vestibular hypofunction 		phenotype Finding 13 0.100 None 0
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 783 111 0.100 None 0
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		disease Mental Disorders Mental or Behavioral Dysfunction 1183 839 0.010 None < 0.001 1 1991 1991
CUI: C0346053
Disease: Atypical fibroxanthoma of skin
Atypical fibroxanthoma of skin 		disease Neoplasms Neoplastic Process 27 0.010 None < 0.001 1 2017 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		phenotype Neoplastic Process 6626 169 0.020 None 0.500 2 2006 2016
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: C0268495
Disease: Oculocutaneous albinism type 2
Oculocutaneous albinism type 2 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome 11 58 0.090 None 0.889 9 1 1987 2013
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: C0027651
Disease: Neoplasms
Neoplasms 		group Neoplasms Neoplastic Process 10161 1644 0.100 None 0.961 51 1994 2018
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: C0025202
Disease: melanoma
melanoma 		disease Neoplasms Neoplastic Process 3087 515 0.500 None 0.984 191 4 1988 2019