RHAG, Rh associated glycoprotein, 6005

N. diseases: 41; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 GermlineCausalMutation disease ORPHANET Hereditary spherocytosis, elliptocytosis, and other red cell membrane disorders. 23664421 2013
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 GeneticVariation disease BEFREE Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer. 22012326 2012
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 GeneticVariation disease UNIPROT Since half of the expressed RhAG in OHSt most probably corresponds to the mutated form of RhAG, as expected from the OHSt heterozygous status, this dramatic decrease can be therefore related to the loss of function of the Phe65Ser-mutated RhAG monomer. 22012326 2012
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 GeneticVariation disease UNIPROT Loss-of-function and gain-of-function phenotypes of stomatocytosis mutant RhAG F65S. 21849667 2011
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 Biomarker disease GENOMICS_ENGLAND DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser). 18931342 2009
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 GeneticVariation disease UNIPROT DNA analysis revealed that the OHSt patients have 1 of 2 heterozygous mutations (t182g, t194c) in RHAG that lead to substitutions of 2 highly conserved amino acids (Ile61Arg, Phe65Ser). 18931342 2009
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 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: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 Biomarker disease CTD_human
CUI: C1861455
Disease: STOMATOCYTOSIS I
STOMATOCYTOSIS I 		0.710 CausalMutation disease CLINVAR
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
CUI: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 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: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype 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: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 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: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype 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: C0272048
Disease: stomatocytic anemia
stomatocytic anemia 		0.400 Biomarker disease HPO
CUI: C0677598
Disease: Stomatocytosis Result
Stomatocytosis Result 		0.400 Biomarker phenotype HPO