Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 GeneticVariation disease BEFREE The analysis of the two exons of SLITRK6 gene in a Moroccan family allowed us to identify a novel single deleterious mutation c.696delG, p.Trp232Cysfs*10 at homozygous state in the exon 2 of the SLITRK6, a gene reported to cause deafness and myopia in various populations. 29551497 2018
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 Biomarker disease CLINGEN A homozygous SLITRK6 nonsense mutation is associated with progressive auditory neuropathy in humans. 23946138 2014
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 GermlineCausalMutation disease ORPHANET SLITRK6 mutations cause myopia and deafness in humans and mice. 23543054 2013
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 Biomarker disease CLINGEN SLITRK6 mutations cause myopia and deafness in humans and mice. 23543054 2013
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 Biomarker disease CLINGEN Disorganized innervation and neuronal loss in the inner ear of Slitrk6-deficient mice. 19936227 2009
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 CausalMutation disease CLINVAR
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 Biomarker disease CTD_human
CUI: C3806275
Disease: DEAFNESS AND MYOPIA
DEAFNESS AND MYOPIA 		0.710 Biomarker disease GENOMICS_ENGLAND
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.210 AlteredExpression disease BEFREE These findings suggest that the downregulation of SLITRK6 expression by IE2 may have a role in HCMV-induced SNHL and other neurological disorders. 27530937 2017
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.210 Biomarker disease MGD These results indicate that the Slitrk6-KO mouse can serve as a model of hereditary sensorineural deafness. 21298075 2011
CUI: C0018776
Disease: Hearing Loss, Central
Hearing Loss, Central 		0.200 Biomarker disease MGD Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice. 21298075 2011
CUI: C0018780
Disease: Hearing Loss, High-Frequency
Hearing Loss, High-Frequency 		0.200 Biomarker disease MGD Impaired auditory-vestibular functions and behavioral abnormalities of Slitrk6-deficient mice. 21298075 2011
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 GeneticVariation disease BEFREE All nine subjects were homozygous for a novel nonsense variant of SLITRK6 (c.1240C>T, p.Gln414Ter).Adult patients had high myopia. 23946138 2014
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 Biomarker disease BEFREE Taken together, our results showed that SLITRK6 plays a crucial role in the development of normal hearing as well as vision in humans and in mice and that its disruption leads to a syndrome characterized by severe myopia and deafness. 23543054 2013
CUI: C0271183
Disease: Severe myopia
Severe myopia 		0.120 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018965
Disease: Hematuria
Hematuria 		0.100 Biomarker phenotype HPO
CUI: C0033687
Disease: Proteinuria
Proteinuria 		0.100 Biomarker phenotype HPO
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.100 Biomarker group HPO
CUI: C4022756
Disease: Profound hearing impairment
Profound hearing impairment 		0.100 Biomarker disease HPO
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.020 Biomarker disease BEFREE More recently, development of inhibitors targeting the fibroblast growth factor receptor genetic alterations and antibody-drug conjugates targeting specific cell surface antigens (trop2, nectin4, and SLITRK6) resulted in several FDA breakthrough designations for urothelial carcinoma. 30844889 2019
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 Biomarker disease BEFREE More recently, development of inhibitors targeting the fibroblast growth factor receptor genetic alterations and antibody-drug conjugates targeting specific cell surface antigens (trop2, nectin4, and SLITRK6) resulted in several FDA breakthrough designations for urothelial carcinoma. 30844889 2019
CUI: C0007138
Disease: Carcinoma, Transitional Cell
Carcinoma, Transitional Cell 		0.020 Biomarker disease BEFREE We also identify a marker, SLITRK6, as a potential target for patients with advanced upper tract urothelial carcinoma. 26317352 2015
CUI: C2145472
Disease: Urothelial Carcinoma
Urothelial Carcinoma 		0.020 Biomarker disease BEFREE We also identify a marker, SLITRK6, as a potential target for patients with advanced upper tract urothelial carcinoma. 26317352 2015
CUI: C0010823
Disease: Cytomegalovirus Infections
Cytomegalovirus Infections 		0.010 AlteredExpression group BEFREE Here, we show that the expression of SLITRK6, one of causative genes for hereditary SNHL, was robustly downregulated by HCMV infection in cultured neural cells. 27530937 2017