USH2A, usherin, 7399

N. diseases: 119; N. variants: 394
Disease: RETINITIS PIGMENTOSA 39 (disorder) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs772100045
rs772100045
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Comprehensive molecular diagnosis of 67 Chinese Usher syndrome probands: high rate of ethnicity specific mutations in Chinese USH patients. 26338283 2015
dbSNP: rs772100045
rs772100045
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Genotype-phenotype correlation and mutation spectrum in a large cohort of patients with inherited retinal dystrophy revealed by next-generation sequencing. 25356976 2015
dbSNP: rs772100045
rs772100045
Entrez Id: 7399
Gene Symbol: USH2A
USH2A
CUI: C3151138
Disease:
RETINITIS PIGMENTOSA 39 (disorder) 		A 0.700 CausalMutation CLINVAR Novel USH2A mutations in Japanese Usher syndrome type 2 patients: marked differences in the mutation spectrum between the Japanese and other populations. 21593743 2011