MSN, moesin, 4478

N. diseases: 140; N. variants: 3
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519074
rs1057519074
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C4310812
Disease:
IMMUNODEFICIENCY 50 		T 0.800 CausalMutation CLINVAR Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
dbSNP: rs1057519074
rs1057519074
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C4310812
Disease:
IMMUNODEFICIENCY 50 		T 0.800 CausalMutation CLINVAR First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID. 28378256 2017
dbSNP: rs1057519074
rs1057519074
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C4310812
Disease:
IMMUNODEFICIENCY 50 		T 0.800 CausalMutation CLINVAR X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
dbSNP: rs1057519074
rs1057519074
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C4310812
Disease:
IMMUNODEFICIENCY 50 		0.800 GeneticVariation UNIPROT
dbSNP: rs143755874
rs143755874
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C0002170
Disease:
Alopecia 		A 0.700 GeneticVariation GWASCAT Genetic prediction of male pattern baldness. 28196072 2017
dbSNP: rs1057519075
rs1057519075
Entrez Id: 4478
Gene Symbol: MSN
MSN
CUI: C4310812
Disease:
IMMUNODEFICIENCY 50 		T 0.700 CausalMutation CLINVAR