Source: ALL
Disease Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2016
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Albinism
CUI: C0001916
Disease: Albinism
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Oculocutaneous albinism type 1
CUI: C0268494
Disease: Oculocutaneous albinism type 1
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
0.700 CausalMutation CLINVAR Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25741868 2015
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR A comprehensive study of oculocutaneous albinism type 1 reveals three previously unidentified alleles on the TYR gene. 24721949 2015
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159 2015
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
Oculocutaneous albinism type 1
CUI: C0268494
Disease: Oculocutaneous albinism type 1
0.700 CausalMutation CLINVAR Effect of ivacaftor on CFTR forms with missense mutations associated with defects in protein processing or function. 23891399 2014
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Molecular and clinical characterization of albinism in a large cohort of Italian patients. 20861488 2011
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR A comprehensive analysis reveals mutational spectra and common alleles in Chinese patients with oculocutaneous albinism. 19865097 2010
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277 2009
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type. 18463683 2008
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2005
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 GeneticVariation CLINVAR Molecular genetics of oculocutaneous albinism. 8217557 1993