RPGRIP1L
0.500
Biomarker
group
CTD_human
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
17558409 2007
RPGRIP1L
0.500
Biomarker
group
CTD_human
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
17558407 2007
RPGRIP1L
0.500
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 5080
Gene Symbol: PAX6
PAX6
0.380
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4
0.340
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 4653
Gene Symbol: MYOC
MYOC
0.330
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 6657
Gene Symbol: SOX2
SOX2
0.330
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 778
Gene Symbol: CACNA1F
CACNA1F
0.330
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 1121
Gene Symbol: CHM
CHM
0.330
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 4942
Gene Symbol: OAT
OAT
0.330
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
0.320
Biomarker
group
GENOMICS_ENGLAND
Homozygosity mapping identifies the Crumbs homologue 1 (Crb1) gene as responsible for a recessive syndrome of retinitis pigmentosa and nanophthalmos.
21484995 2011
×
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.320
Biomarker
group
GENOMICS_ENGLAND
Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC).
15452077 2004
×
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.320
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 6121
Gene Symbol: RPE65
RPE65
0.320
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 23418
Gene Symbol: CRB1
CRB1
0.320
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 652
Gene Symbol: BMP4
BMP4
0.320
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 5015
Gene Symbol: OTX2
OTX2
0.320
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 4693
Gene Symbol: NDP
NDP
0.310
Biomarker
group
GENOMICS_ENGLAND
A case of exudative vitreoretinopathy and chorioretinal coloboma associated with microcephaly in a female with contiguous Xp11.3-11.4 deletion.
29617172 2018
×
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4
0.310
Biomarker
group
GENOMICS_ENGLAND
A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.
27419834 2016
×
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3
0.310
Biomarker
group
GENOMICS_ENGLAND
Spectral-domain optical coherence tomography staging and autofluorescence imaging in achromatopsia.
24504161 2014
×
Entrez Id: 4935
Gene Symbol: GPR143
GPR143
0.310
Biomarker
group
GENOMICS_ENGLAND
A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus.
19390656 2009
×
Entrez Id: 64218
Gene Symbol: SEMA4A
SEMA4A
0.310
Biomarker
group
GENOMICS_ENGLAND
To investigate its association with human retinal degeneration, mutation screening of the SEMA4A gene was carried out on 190 unrelated patients suffering from a variety of eye diseases .
16199541 2006
×
Entrez Id: 1406
Gene Symbol: CRX
CRX
0.310
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 83552
Gene Symbol: MFRP
MFRP
0.310
Biomarker
group
GENOMICS_ENGLAND
×
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.310
Biomarker
group
GENOMICS_ENGLAND