|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
MGD |
|
|
|
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
|
1903591 |
1991 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
"Tyrosinase gene mutations associated with type IB (""yellow"") oculocutaneous albinism."
|
1903591 |
1991 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
(3) Disorders of melanin synthesis in the melanosome: oculocutaneous albinism 1-4 (OCA1-4).
|
15452859 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Oculocutaneous albinism 1 is associated with the tyrosinase gene.
|
10960773 |
2000 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.
|
15146472 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.
|
15146472 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Oculocutaneous albinism (OCA) in man may be caused by mutations within the tyrosinase gene (TYR) resulting in OCA1.
|
15146472 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) is a heterogeneous group of autosomal recessive disorders resulting from mutations of the tyrosinase (TYR) gene and presents with either complete or partial absence of pigment in the skin, hair and eyes due to a defect in an enzyme involved in the production of melanin.
|
25216246 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) has been associated with new mutations in genes named OCA5, OCA6, and OCA7, bringing to the total number of culprit genes to seven (OCA1-OCA7).
|
28525403 |
2017 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Oculocutaneous albinism (OCA) is a group of autosomal recessive disorders characterized by reduced melanin that are caused by mutations in the gene encoding tyrosinase (TYR), which is the rate-limiting enzyme in the production of the pigment melanin.
|
30274819 |
2018 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinase gene mutations were identified in five out of nine OCA families (55%).
|
15381243 |
2004 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
OCA1 is the most common (70.1% of cases) form of Chinese OCA, whereas OCA2, OCA4, and HPS1 account for 10.2%, 12.6%, and 1.6%, respectively.
|
19865097 |
2010 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
TYR gene mutations represent a relevant cause of oculocutaneous albinism in Italy, whereas mutations in P present a lower frequency than that found in other populations.
|
20861488 |
2011 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Tyrosinase (TYR) catalyzes the rate-limiting, first step in melanin production and its gene (TYR) is mutated in many cases of oculocutaneous albinism (OCA1), an autosomal recessive cause of childhood blindness.
|
24392141 |
2014 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
OCA1 is the most frequent subtype of OCA, caused by mutations in the tyrosinase gene (TYR).
|
30341532 |
2018 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
OCA1 and OCA2 are caused by mutations of the TYR and OCA2 genes, respectively, which are responsible for most oculocutaneous albinism.
|
31196117 |
2019 |
|
Albinism, Oculocutaneous
|
0.900 |
Biomarker
|
disease |
BEFREE |
Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carrier frequency of approximately 1/33.
|
9345097 |
1997 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
|
19865097 |
2010 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism.
|
19865097 |
2010 |
|
Albinism, Oculocutaneous
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene.
|
24721949 |
2015 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation associated with type I-A (tyrosinase-negative) oculocutaneous albinism in Puerto Rico.
|
8434585 |
1993 |
|
Albinism, Oculocutaneous
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
A frequent tyrosinase gene mutation in classic, tyrosinase-negative (type IA) oculocutaneous albinism.
|
1970634 |
1990 |