×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
0.110
GeneticVariation
phenotype
BEFREE
To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2 ).
28704163
2018
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
0.110
CausalMutation
phenotype
CLINVAR
×
Entrez Id:
8813
Gene Symbol:
DPM1
DPM1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
9382
Gene Symbol:
COG1
COG1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4514
Gene Symbol:
COX3
COX3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4578
Gene Symbol:
TRNW
TRNW
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4513
Gene Symbol:
COX2
COX2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4574
Gene Symbol:
TRNS1
TRNS1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4572
Gene Symbol:
TRNQ
TRNQ
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4286
Gene Symbol:
MITF
MITF
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4558
Gene Symbol:
TRNF
TRNF
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4535
Gene Symbol:
ND1
ND1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4541
Gene Symbol:
ND6
ND6
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
1908
Gene Symbol:
EDN3
EDN3
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4575
Gene Symbol:
TRNS2
TRNS2
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4538
Gene Symbol:
ND4
ND4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6609
Gene Symbol:
SMPD1
SMPD1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4512
Gene Symbol:
COX1
COX1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
8322
Gene Symbol:
FZD4
FZD4
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
57724
Gene Symbol:
EPG5
EPG5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4564
Gene Symbol:
TRNH
TRNH
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4540
Gene Symbol:
ND5
ND5
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4693
Gene Symbol:
NDP
NDP
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
4567
Gene Symbol:
TRNL1
TRNL1
0.100
Biomarker
phenotype
HPO
×
Entrez Id:
6663
Gene Symbol:
SOX10
SOX10
0.100
Biomarker
phenotype
HPO