Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 Biomarker disease CTD_human
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4575
Gene Symbol: TRNS2
TRNS2 		0.300 GermlineCausalMutation disease ORPHANET
Entrez Id: 2022
Gene Symbol: ENG
ENG 		0.010 Biomarker disease BEFREE Usher's syndrome type III: ENG findings in four affected and six unaffected siblings. 3871466 1985
Entrez Id: 4647
Gene Symbol: MYO7A
MYO7A 		0.310 Biomarker disease BEFREE The gene encoding human myosin VIIA is responsible for Usher syndrome type III (USH1B), a disease which associates profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. 8622919 1996
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease BEFREE A locus for Usher syndrome type III (USH3; MIM No. 8975700 1996
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 Biomarker disease GENOMICS_ENGLAND Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family. 9719374 1998
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease BEFREE Usher syndrome type 3 (USH3; MIM 276902) is an autosomal recessive disorder associated with progressive hearing loss and retinal degeneration. 10704288 2000
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 CausalMutation disease CLINVAR Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease UNIPROT Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 Biomarker disease CLINGEN Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1 		0.110 CausalMutation disease CLINVAR Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. 11524702 2001
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1 		0.110 Biomarker disease BEFREE Two novel genes-NOPAR and UCRP-and one previously identified gene-H963-were excluded as USH3, on the basis of mutational analysis. 11524702 2001
Entrez Id: 9636
Gene Symbol: ISG15
ISG15 		0.010 Biomarker disease BEFREE Two novel genes-NOPAR and UCRP-and one previously identified gene-H963-were excluded as USH3, on the basis of mutational analysis. 11524702 2001
Entrez Id: 29909
Gene Symbol: GPR171
GPR171 		0.010 GeneticVariation disease BEFREE Two novel genes-NOPAR and UCRP-and one previously identified gene-H963-were excluded as USH3, on the basis of mutational analysis. 11524702 2001
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease UNIPROT Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. 12080385 2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 CausalMutation disease CLINVAR Because the previously defined transcripts do not account for all USH3 cases, we performed further analysis and revealed the presence of additional exons embedded in longer human and mouse USH3A transcripts and three novel USH3A mutations. 12080385 2002
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1 		0.110 CausalMutation disease CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385 2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease UNIPROT Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 CausalMutation disease CLINVAR Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease CLINVAR Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1 		0.110 CausalMutation disease CLINVAR Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1 		0.110 GeneticVariation disease CLINVAR Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 GeneticVariation disease BEFREE These findings suggest that Usher syndrome type III can be clinically misdiagnosed as either Usher type I or II; that Usher syndrome patients who are profoundly hearing impaired and have normal vestibular function should be tested for USH3 mutations; and that RPA and RPSP can occur as fundoscopic manifestations of pigmentary retinopathy in Usher syndrome. 12834121 2003
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1 		1.000 CausalMutation disease CLINVAR Genetic homogeneity and phenotypic variability among Ashkenazi Jews with Usher syndrome type III. 14569126 2003