×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
×
Entrez Id:
23503
Gene Symbol:
ZFYVE26
ZFYVE26
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
×
Entrez Id:
254359
Gene Symbol:
ZDHHC24
ZDHHC24
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
254359
Gene Symbol:
ZDHHC24
ZDHHC24
Retinitis Pigmentosa
0.100
GeneticVariation
CLINVAR
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.
12118255
2002
×
Entrez Id:
338917
Gene Symbol:
VSX2
VSX2
Retinitis Pigmentosa
0.100
CausalMutation
CLINVAR
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.
20507924
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
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
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Mutation of a gene encoding a protein with extracellular matrix motifs in Usher syndrome type IIa.
9624053
1998
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Identification of novel USH2A mutations: implications for the structure of USH2A protein.
10909849
2000
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
18273898
2008
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
This single mutation was found in 4.5% of 224 patients with recessive RP , suggesting that USH2A could cause more cases of nonsyndromic recessive RP than does any other gene identified to date.
10775529
2000
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray.
21151602
2010
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Targeted next-generation sequencing reveals novel USH2A mutations associated with diverse disease phenotypes: implications for clinical and molecular diagnosis.
25133613
2014
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Genomic structure and identification of novel mutations in usherin, the gene responsible for Usher syndrome type IIa.
10729113
2000
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis.
23940504
2013
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa.
15325563
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Spectrum of mutations in USH2A in British patients with Usher syndrome type II.
11311042
2001
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.
15015129
2004
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
GeneticVariation
CLINVAR
Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies.
24265693
2013
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II.
18273898
2008
×
Entrez Id:
7399
Gene Symbol:
USH2A
USH2A
Retinitis Pigmentosa
0.700
CausalMutation
CLINVAR
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.
19881469
2009
×
Entrez Id:
10083
Gene Symbol:
USH1C
USH1C
Retinitis Pigmentosa
0.110
CausalMutation
CLINVAR
Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy.
30718709
2019
×
Entrez Id:
7287
Gene Symbol:
TULP1
TULP1
Retinitis Pigmentosa
0.500
GeneticVariation
CLINVAR