TYRP1, tyrosinase related protein 1, 7306

N. diseases: 200; N. variants: 14
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease UNIPROT DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics. 23504663 2013
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease BEFREE In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3. 23862152 2013
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 Biomarker disease BEFREE To use a systems genetics approach to construct and analyze co-expression networks that are causally linked to mutations in a key pigementation gene, tyrosinase-related protein 1 (Tyrp1), that is associated both with oculocutaneous albinism type 3 (OCA3) in humans and with glaucoma in mice. 21976956 2011
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease BEFREE Examination and analysis of the TYRP1 gene identified them to be having OCA3. 21739261 2011
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 CausalMutation disease CLINVAR Molecular diagnosis of oculocutaneous albinism: new mutations in the OCA1-4 genes and practical aspects. 18821858 2008
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 Biomarker disease GENOMICS_ENGLAND Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 16704458 2006
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease UNIPROT Oculocutaneous albinism with TYRP1 gene mutations in a Caucasian patient. 16704458 2006
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 Biomarker disease GENOMICS_ENGLAND The tyrosinase related protein-1 (Tyrp1) promoter in transgenic experiments: targeted expression to the retinal pigment epithelium. 10644000 1999
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease BEFREE Linkage analysis performed on nine ROCA families showed that ROCA was linked to an intragenic marker at the TYRP1 locus (maximum LOD score = 3.80 at straight theta=.00). 9345097 1997
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 Biomarker disease GENOMICS_ENGLAND Linkage analysis performed on nine ROCA families showed that ROCA was linked to an intragenic marker at the TYRP1 locus (maximum LOD score = 3.80 at straight theta=.00). 9345097 1997
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GermlineCausalMutation disease ORPHANET
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 GeneticVariation disease CLINVAR
CUI: C0342683
Disease: ALBINISM, OCULOCUTANEOUS, TYPE III
ALBINISM, OCULOCUTANEOUS, TYPE III 		0.740 Biomarker disease GENOMICS_ENGLAND