TMEM165, transmembrane protein 165, 55858

N. diseases: 37; N. variants: 18
Disease: Carbohydrate deficient glycoprotein syndrome type 2k ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation disease UNIPROT Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. 23575229 2013
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation disease UNIPROT Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165. 23430531 2013
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GermlineCausalMutation disease ORPHANET TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 Biomarker disease GENOMICS_ENGLAND TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation disease UNIPROT TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 CausalMutation disease CLINVAR
CUI: C3553571
Disease: Carbohydrate deficient glycoprotein syndrome type 2k
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 Biomarker disease CTD_human