TMEM165, transmembrane protein 165, 55858

N. diseases: 37; N. variants: 18
Disease: Carbohydrate deficient glycoprotein syndrome type 2k ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907222
rs387907222
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
CUI: C3553571
Disease:
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation UNIPROT Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. 23575229 2013
dbSNP: rs387907222
rs387907222
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
CUI: C3553571
Disease:
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation 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
dbSNP: rs387907222
rs387907222
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165
CUI: C3553571
Disease:
Carbohydrate deficient glycoprotein syndrome type 2k 		0.700 GeneticVariation UNIPROT TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012