Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN Gene analysis: A rare gene disease of intellectual deficiency-Cohen syndrome. 29758347

2018
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations. 29149870

2017
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features. 26104215

2015
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker 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
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN Cohen syndrome is associated with major glycosylation defects. 24334764

2014
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1. 19006247

2009
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker CLINGEN Broader geographical spectrum of Cohen syndrome due to COH1 mutations. 15173253

2004
Entrez Id: 157680
Gene Symbol: VPS13B
VPS13B
CUI: C1854061
Disease: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness
Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness 		0.300 Biomarker 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