VPS13B, vacuolar protein sorting 13 homolog B, 157680

N. diseases: 158; N. variants: 309
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. 29758347 2018
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. 29149870 2017
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 26104215 2015
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Cohen syndrome-associated protein COH1 physically and functionally interacts with the small GTPase RAB6 at the Golgi complex and directs neurite outgrowth. 25492866 2015
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Cohen syndrome is associated with major glycosylation defects. 24334764 2014
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247 2009
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Broader geographical spectrum of Cohen syndrome due to COH1 mutations. 15173253 2004
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker phenotype CLINGEN Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. 12730828 2003