MSN, moesin, 4478

N. diseases: 140; N. variants: 3
Disease: IMMUNODEFICIENCY 50 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease GENOMICS_ENGLAND Exome Sequencing Diagnoses X-Linked Moesin-Associated Immunodeficiency in a Primary Immunodeficiency Case. 29556235 2018
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR First Case of X-Linked Moesin Deficiency Identified After Newborn Screening for SCID. 28378256 2017
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 GermlineCausalMutation disease ORPHANET X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 CausalMutation disease CLINVAR X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 GeneticVariation disease UNIPROT X-linked primary immunodeficiency associated with hemizygous mutations in the moesin (MSN) gene. 27405666 2016
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease CTD_human
CUI: C4310812
Disease: IMMUNODEFICIENCY 50
IMMUNODEFICIENCY 50 		0.700 Biomarker disease GENOMICS_ENGLAND