|
Abnormality of metabolism/homeostasis
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Albinism
|
|
0.710 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Albinism
|
|
0.710 |
GeneticVariation
|
BEFREE |
Finally, we review the TYR p.R402Q temperature-sensitive variant and confirm its association with cases of albinism with only one identifiable TYR mutation.
|
23504663 |
2013 |
|
Albinism, Ocular
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we present a second WS2 family with OA and provide evidence suggesting the TYR(R402Q) allele does not cause OA in this family.
|
19938076 |
2009 |
|
ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR).
|
9158138 |
1997 |
|
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this family, all of the individuals with the OA phenotype are either homozygous or heterozygous for TYR(R402Q), and heterozyous for the 1 bp deletion in MITF This suggests that the WS2-OA phenotype may result from digenic interaction between a gene for a transcription factor (MITF) and a gene that it regulates (TYR).
|
9158138 |
1997 |
|
ALBINISM, OCULOCUTANEOUS, TYPE I, TEMPERATURE-SENSITIVE
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
|
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
Autosomal recessive ocular albinism
|
|
0.020 |
GeneticVariation
|
BEFREE |
Almost all patients with OCA1-related AROA were compound heterozygous for severe OCA1 mutant alleles and the common R402Q variant.
|
18326704 |
2008 |
|
Autosomal recessive ocular albinism
|
|
0.020 |
GeneticVariation
|
BEFREE |
The R402Q tyrosinase variant does not cause autosomal recessive ocular albinism.
|
19208379 |
2009 |
|
Basal Cell Cancer
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal Cell Cancer
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
|
27539887 |
2016 |
|
Basal cell carcinoma
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal cell carcinoma
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
|
27539887 |
2016 |
|
Basal Cell Neoplasm
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Combined analysis of keratinocyte cancers identifies novel genome-wide loci.
|
31174203 |
2019 |
|
Basal Cell Neoplasm
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genome-wide association study identifies 14 novel risk alleles associated with basal cell carcinoma.
|
27539887 |
2016 |
|
Carcinoma, Basal Cell
|
|
0.020 |
GeneticVariation
|
BEFREE |
The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)).
|
18488027 |
2008 |
|
Carcinoma, Basal Cell
|
|
0.020 |
GeneticVariation
|
BEFREE |
We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls.
|
21906913 |
2011 |
|
Choroidal Neovascularization
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Cutaneous Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)).
|
18488027 |
2008 |
|
Cutaneous Melanoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16).
|
21906913 |
2011 |
|
Elevated hepatic transaminase
|
|
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
|
Experimental Organism Basal Cell Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls.
|
21906913 |
2011 |
|
Experimental Organism Basal Cell Carcinoma
|
|
0.020 |
GeneticVariation
|
BEFREE |
The variant in TYR encoding the R402Q amino acid substitution, previously shown to affect eye color and tanning response, conferred risk of CM (OR = 1.21, P = 2.8 x 10(-7)) and BCC (OR = 1.14, P = 6.1 x 10(-4)).
|
18488027 |
2008 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16).
|
21906913 |
2011 |