Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Myopia
CUI: C0027092
Disease: Myopia
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation 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 CausalMutation CLINVAR Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. 19060277 2009
ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
CUI: C1863198
Disease: ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation 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 CausalMutation 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 CausalMutation CLINVAR Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. 22294196 2012
Oculocutaneous albinism type 1A
CUI: C4551504
Disease: Oculocutaneous albinism type 1A
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation CLINVAR A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. 18326704 2008
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
CUI: C2677190
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 3 (disorder)
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation CLINVAR Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2015
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
CUI: C1847024
Disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation CLINVAR Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. 15381243 2004
Nystagmus
CUI: C0028738
Disease: Nystagmus
0.700 CausalMutation CLINVAR
Albinism
CUI: C0001916
Disease: Albinism
0.700 CausalMutation CLINVAR
Albinism, Oculocutaneous
CUI: C0078918
Disease: Albinism, Oculocutaneous
0.700 CausalMutation 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 Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. 25919014 2015
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 Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. 28266639 2017
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 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 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 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 Delineating the genetic heterogeneity of OCA in Hungarian patients. 28629449 2017
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