Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 GeneticVariation disease UNIPROT Impact of disease-causing mutations on TMEM165 subcellular localization, a recently identified protein involved in CDG-II. 23575229 2013
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		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
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 GermlineCausalMutation disease ORPHANET TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 Biomarker disease GENOMICS_ENGLAND TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 GeneticVariation disease UNIPROT TMEM165 deficiency causes a congenital disorder of glycosylation. 22683087 2012
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 CausalMutation disease CLINVAR
Entrez Id: 55858
Gene Symbol: TMEM165
TMEM165 		0.700 Biomarker disease CTD_human