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GENE - TERM ANNOTATION REPORT

54 Annotations Found.

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred from sequence orthology (ISO)
The annotation was made from Gimenez E, etal., Pigment Cell Res. 2004 Aug;17(4):363-70.
The annotation has been inferred from sequence orthology with Tyr (Mus musculus) [(IMP) inferred from mutant phenotype]
2 additional annotations were made from Gimenez E, etal., Pigment Cell Res. 2004 Aug;17(4):363-70.
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Qualifier: treatment

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Ko JM, etal., Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.
2 additional annotations were made from Ko JM, etal., Mol Med Rep. 2012 Apr;5(4):943-8. doi: 10.3892/mmr.2012.764. Epub 2012 Jan 25.
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: DNA:mutations:multiple:

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred from sequence orthology (ISO)
The annotation was made from Schmidt A and Beermann F, Proc Natl Acad Sci U S A. 1994 May 24;91(11):4756-60.
The annotation has been inferred from sequence orthology with Tyr (Mus musculus) [(IMP) inferred from mutant phenotype]
2 additional annotations were made from Schmidt A and Beermann F, Proc Natl Acad Sci U S A. 1994 May 24;91(11):4756-60.
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: DNA:missense mutation:cds:p.S128I(mouse)

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred from sequence orthology (ISO)
The annotation was made from Blaszczyk WM, etal., Pigment Cell Res. 2005 Apr;18(2):144-5.
The annotation has been inferred from sequence orthology with Tyr (Rattus norvegicus) [(IAGP) inferred by association of genotype and phenotype]
4 additional annotations were made from Blaszczyk WM, etal., Pigment Cell Res. 2005 Apr;18(2):144-5.
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: DNA:missense mutation:exon:p.R299H (rat)

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from Tripathi RK, etal., Am J Med Genet. 1992 Jul 15;43(5):865-71.
2 additional annotations were made from Tripathi RK, etal., Am J Med Genet. 1992 Jul 15;43(5):865-71.
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: OCA1, OMIM:203100, OCA1B, OMIM:606952

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:401797359 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:32849781

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11648707 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28910920 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11655719 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11657106 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11651654 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11662281 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11646364 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred from experiment (EXP)
The annotation was made from RGD automated import pipeline for CTD gene-to-disease annotations
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: CTD Direct Evidence: marker/mechanism
Original References(s): PMID:2511845 PMID:9158138

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8646026 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532 PMID:8217557

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13518422 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:15146472 PMID:25741868

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28867642 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28868339 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:14693024 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28910921 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28910922 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11549930 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13216925 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11545984 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28870657 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:10094567 PMID:18463683 PMID:25741868 PMID:28492532 PMID:8128955

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28867633 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8646059 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:11829136 PMID:15381243 PMID:15635296 PMID:16056219 PMID:20806075 PMID:22042571 PMID:22734612 PMID:23324268 PMID:23504663 PMID:25741868 PMID:25919014 PMID:26165494 PMID:27829221 PMID:28266639 PMID:28492532 PMID:31199599 PMID:7902671 PMID:8128955

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8646005 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:13680365 PMID:15381243 PMID:18326704 PMID:18463683 PMID:19060277 PMID:19626598 PMID:19865097 PMID:20861488 PMID:22294196 PMID:24033266 PMID:24721949 PMID:25741868 PMID:25919014 PMID:28266639 PMID:28451379 PMID:28492532 PMID:28629449 PMID:29345414 PMID:33223529 PMID:34008892 PMID:9163730

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:15146851 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:11637574 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:21906913 PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13836249 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557656 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:16907708 PMID:17952075 PMID:17999355 PMID:1899321 PMID:20301345 PMID:25741868 PMID:26165494 PMID:28378818 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557653 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:13680365 PMID:1429711 PMID:1642278 PMID:18326704 PMID:1899321 PMID:19060277 PMID:1943686 PMID:21985232 PMID:22294196 PMID:2342539 PMID:25326635 PMID:25741868 PMID:28266639 PMID:28492532 PMID:29345414

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8646017 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:18463683 PMID:19865097 PMID:21458243 PMID:31077556

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557652 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:10823941 PMID:11284711 PMID:13680365 PMID:1429711 PMID:15146472 PMID:1642278 PMID:18326704 PMID:18463683 PMID:1899321 PMID:1905879 PMID:1943686 PMID:20861488 PMID:23085273 PMID:2342539 PMID:23504663 PMID:24033266 PMID:25741868 PMID:27775880 PMID:28492532 PMID:29345414 PMID:8128955 PMID:8430701 PMID:8434585 PMID:9242509 PMID:9259202

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557657 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:10766867 PMID:1429711 PMID:17952075 PMID:1820207 PMID:18326704 PMID:18488027 PMID:18488028 PMID:18925668 PMID:19208379 PMID:19533789 PMID:20301345 PMID:21541274 PMID:23504663 PMID:25216246 PMID:25741868 PMID:28492532 PMID:30472657 PMID:35803923 PMID:666627 PMID:7704033 PMID:9158138

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13522733 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:14393330 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:15937636 PMID:16098056 PMID:25216246 PMID:25741868 PMID:28266639 PMID:28492532 PMID:31077556 PMID:32581362 PMID:33800529 PMID:8026428

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557650 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:10987646 PMID:12753405 PMID:13680365 PMID:15146472 PMID:18326704 PMID:1832718 PMID:18463683 PMID:18821858 PMID:1903591 PMID:1970634 PMID:24033266 PMID:25741868 PMID:28041643 PMID:28451379 PMID:28492532 PMID:29345414 PMID:7849740 PMID:8434585

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28870659 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8646051 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:10987646 PMID:16170149 PMID:1642278 PMID:18463683 PMID:19060277 PMID:25741868 PMID:27734839 PMID:28266639 PMID:28492532 PMID:28976636 PMID:29345414

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13807085 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:13680365 PMID:25741868 PMID:27537549 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557651 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:11295837 PMID:13680365 PMID:18463683 PMID:1903591 PMID:25741868 PMID:28492532 PMID:29345414

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28867636 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557655 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:11284711 PMID:13680365 PMID:1429711 PMID:15146472 PMID:1642278 PMID:18463683 PMID:18821858 PMID:1903591 PMID:19060277 PMID:19208379 PMID:19320745 PMID:19865097 PMID:20861488 PMID:21906913 PMID:22734612 PMID:24033266 PMID:24123366 PMID:25216246 PMID:25333069 PMID:25741868 PMID:26167114 PMID:26818737 PMID:27734839 PMID:27775880 PMID:27887888 PMID:28266639 PMID:28492532 PMID:28667292 PMID:30311386 PMID:31719542 PMID:32411182 PMID:5516239 PMID:9242509

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:10404727 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:23504663 PMID:25741868 PMID:27734839 PMID:27959697 PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28868198 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557683 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:25741868 PMID:28378818 PMID:28492532 PMID:28976636 PMID:31077556 PMID:7704033 PMID:7955413

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557667 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:18326704 PMID:18463683 PMID:1943686 PMID:19865097 PMID:24721949 PMID:25741868 PMID:28492532 PMID:31077556 PMID:7704033

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:28867639 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:28492532

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:12902244 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:13680365 PMID:19060277 PMID:21906913 PMID:25741868 PMID:27734839 PMID:28492532 PMID:34008892

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:8557677 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:13680365 PMID:1642278 PMID:18463683 PMID:24033266 PMID:25741868 PMID:28492532 PMID:29345414

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred from sequence or structural similarity (ISS)
The annotation was made from RGD automated import pipeline for MGI gene-to-disease annotations
The annotation has been inferred from sequence or structural similarity with Tyr (Mus musculus) [(IAGP) inferred by association of genotype and phenotype]
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR

An association has been curated linking TYR and oculocutaneous albinism in Homo sapiens.        

The association was inferred by association of genotype and phenotype (IAGP)
The annotation was made from RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
The annotation has been inferred by association of genotype and phenotype with RGD:13445771 (Homo sapiens)
107 RGD objects have been annotated to oculocutaneous albinism  (DOID:0050632)
30 papers in RGD have been used to annotate TYR
Curation Notes: ClinVar Annotator: match by term: Oculocutaneous albinism
Original References(s): PMID:29345414 PMID:30341532

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