RHAG, Rh associated glycoprotein, 6005

N. diseases: 41; N. variants: 13
Disease: Rh-Null, Regulator Type ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 Biomarker disease GENOMICS_ENGLAND The monovalent cation leak in overhydrated stomatocytic red blood cells results from amino acid substitutions in the Rh-associated glycoprotein. 18931342 2009
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GeneticVariation disease UNIPROT Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene. 10467273 1999
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 Biomarker disease GENOMICS_ENGLAND Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. 9716608 1998
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GeneticVariation disease UNIPROT Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. 9716608 1998
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GeneticVariation disease UNIPROT A novel single missense mutation identified along the RH50 gene in a composite heterozygous Rhnull blood donor of the regulator type. 9454778 1998
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GermlineCausalMutation disease ORPHANET Rh50 glycoprotein gene and rhnull disease: a silent splice donor is trans to a Gly279-->Glu missense mutation in the conserved transmembrane segment. 9716608 1998
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GermlineCausalMutation disease ORPHANET Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. 8563755 1996
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 GeneticVariation disease UNIPROT Candidate gene acting as a suppressor of the RH locus in most cases of Rh-deficiency. 8563755 1996
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 Biomarker disease CTD_human
CUI: C1849387
Disease: Rh-Null, Regulator Type
Rh-Null, Regulator Type 		0.700 CausalMutation disease CLINVAR