Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 745
Gene Symbol: MYRF
MYRF
0.300 Biomarker phenotype GENOMICS_ENGLAND Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. 31048900 2019
Entrez Id: 745
Gene Symbol: MYRF
MYRF
0.300 Biomarker phenotype GENOMICS_ENGLAND Autosomal dominant nanophthalmos and high hyperopia associated with a C-terminal frameshift variant in MYRF. 31700225 2019
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.100 Biomarker phenotype HPO
Entrez Id: 84131
Gene Symbol: CEP78
CEP78
0.100 Biomarker phenotype HPO
Entrez Id: 8473
Gene Symbol: OGT
OGT
0.100 Biomarker phenotype HPO
Entrez Id: 57096
Gene Symbol: RPGRIP1
RPGRIP1
0.100 Biomarker phenotype HPO
Entrez Id: 55764
Gene Symbol: IFT122
IFT122
0.100 Biomarker phenotype HPO
Entrez Id: 2563
Gene Symbol: GABRD
GABRD
0.100 Biomarker phenotype HPO
Entrez Id: 63976
Gene Symbol: PRDM16
PRDM16
0.100 Biomarker phenotype HPO
Entrez Id: 6497
Gene Symbol: SKI
SKI
0.100 Biomarker phenotype HPO
Entrez Id: 167691
Gene Symbol: LCA5
LCA5
0.100 Biomarker phenotype HPO
Entrez Id: 7461
Gene Symbol: CLIP2
CLIP2
0.100 Biomarker phenotype HPO
Entrez Id: 26608
Gene Symbol: TBL2
TBL2
0.100 Biomarker phenotype HPO
Entrez Id: 10518
Gene Symbol: CIB2
CIB2
0.100 Biomarker phenotype HPO
Entrez Id: 10083
Gene Symbol: USH1C
USH1C
0.100 Biomarker phenotype HPO
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
0.100 Biomarker phenotype HPO
Entrez Id: 646960
Gene Symbol: PRSS56
PRSS56
0.100 Biomarker phenotype HPO
Entrez Id: 2697
Gene Symbol: GJA1
GJA1
0.100 Biomarker phenotype HPO
Entrez Id: 57539
Gene Symbol: WDR35
WDR35
0.100 Biomarker phenotype HPO
Entrez Id: 5130
Gene Symbol: PCYT1A
PCYT1A
0.100 Biomarker phenotype HPO
Entrez Id: 3035
Gene Symbol: HARS1
HARS1
0.100 Biomarker phenotype HPO
Entrez Id: 2969
Gene Symbol: GTF2I
GTF2I
0.100 Biomarker phenotype HPO
Entrez Id: 57728
Gene Symbol: WDR19
WDR19
0.100 Biomarker phenotype HPO
Entrez Id: 124590
Gene Symbol: USH1G
USH1G
0.100 Biomarker phenotype HPO
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A
0.100 Biomarker phenotype HPO