Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Myopia
|
0.700 | CausalMutation | CLINVAR | ||||||||
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
|
0.700 | GeneticVariation | CLINVAR | Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism. | 25919014 | 2015 | |||||
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)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Albinism, Oculocutaneous
|
0.700 | GeneticVariation | CLINVAR | A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. | 18326704 | 2008 | |||||
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
|
0.700 | GeneticVariation | CLINVAR | Molecular outcomes, clinical consequences, and genetic diagnosis of Oculocutaneous Albinism in Pakistani population. | 28266639 | 2017 | |||||
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
|
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
|
0.700 | GeneticVariation | CLINVAR | Birth prevalence and mutation spectrum in danish patients with autosomal recessive albinism. | 19060277 | 2009 | |||||
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
|
0.700 | CausalMutation | CLINVAR | ||||||||
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)
|
0.700 | CausalMutation | CLINVAR | ||||||||
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
|
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
|
0.700 | GeneticVariation | CLINVAR | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism. | 22294196 | 2012 | |||||
ALBINISM, OCULOCUTANEOUS, TYPE IB (disorder)
|
0.700 | CausalMutation | CLINVAR | ||||||||
Albinism, Oculocutaneous
|
0.700 | GeneticVariation | CLINVAR | Delineating the genetic heterogeneity of OCA in Hungarian patients. | 28629449 | 2017 | |||||
Albinism, Oculocutaneous
|
0.700 | CausalMutation | CLINVAR | Tyrosinase gene analysis in Japanese patients with oculocutaneous albinism. | 15381243 | 2004 | |||||
Nystagmus
|
0.700 | CausalMutation | CLINVAR | ||||||||
Albinism, Oculocutaneous
|
0.700 | GeneticVariation | CLINVAR | Molecular and clinical characterization of albinism in a large cohort of Italian patients. | 20861488 | 2011 | |||||
Albinism
|
0.700 | CausalMutation | CLINVAR | ||||||||
Albinism, Oculocutaneous
|
0.700 | GeneticVariation | CLINVAR | Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W. | 28451379 | 2017 |