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- NCIT_C185690 IAO_0000115 "Human SLC9A3R1 wild-type allele is located in the vicinity of 17q25.1 and is approximately 21 kb in length. This allele, which encodes Na(+)/H(+) exchange regulatory cofactor NHE-RF1 protein, plays a role in the association of members of the ezrin/moesin/radixin family with actin and cytoskeletal effector proteins. Mutation of the gene is associated with hypophosphatemic nephrolithiasis/osteoporosis type 2, while loss of heterozygosity of this gene may be associated with breast cancer." @default.
- NCIT_C185690 NCIT_NHC0 "C185690" @default.
- NCIT_C185690 NCIT_P100 "604990" @default.
- NCIT_C185690 NCIT_P102 "AF015926" @default.
- NCIT_C185690 NCIT_P106 "Gene or Genome" @default.
- NCIT_C185690 NCIT_P108 "SLC9A3R1 wt Allele" @default.
- NCIT_C185690 NCIT_P208 "CL1773844" @default.
- NCIT_C185690 NCIT_P321 "9368" @default.
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- NCIT_C185690 NCIT_R37 NCIT_C18992 @default.
- NCIT_C185690 NCIT_R37 NCIT_C19143 @default.
- NCIT_C185690 NCIT_R37 NCIT_C19986 @default.
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- NCIT_C185690 NCIT_R40 NCIT_C12219 @default.
- NCIT_C185690 NCIT_R40 NCIT_C13282 @default.
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- NCIT_C185690 NCIT_R40 NCIT_C13446 @default.
- NCIT_C185690 NCIT_R40 NCIT_C14135 @default.
- NCIT_C185690 NCIT_R40 NCIT_C24979 @default.
- NCIT_C185690 NCIT_R40 NCIT_C32221 @default.
- NCIT_C185690 NCIT_R40 NCIT_C34070 @default.
- NCIT_C185690 NCIT_R41 NCIT_C14182 @default.
- NCIT_C185690 NCIT_R41 NCIT_C14225 @default.
- NCIT_C185690 NCIT_R41 NCIT_C14234 @default.
- NCIT_C185690 NCIT_R41 NCIT_C14250 @default.
- NCIT_C185690 NCIT_R41 NCIT_C14262 @default.
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- NCIT_C185690 NCIT_R41 NCIT_C25796 @default.
- NCIT_C185690 NCIT_R41 NCIT_C79740 @default.
- NCIT_C185690 normalizedInformationContent "100" @default.
- NCIT_C185690 referenceCount "1" @default.
- NCIT_C185690 hasExactSynonym "EBP50" @default.
- NCIT_C185690 hasExactSynonym "ERM-Binding Phosphoprotein, 50-kD Gene" @default.
- NCIT_C185690 hasExactSynonym "NHERF" @default.
- NCIT_C185690 hasExactSynonym "NHERF-1" @default.
- NCIT_C185690 hasExactSynonym "NHERF1" @default.
- NCIT_C185690 hasExactSynonym "NPHLOP2" @default.
- NCIT_C185690 hasExactSynonym "SLC9A3 Regulator 1 wt Allele" @default.
- NCIT_C185690 hasExactSynonym "SLC9A3R1 wt Allele" @default.
- NCIT_C185690 hasExactSynonym "SSH3BP2" @default.
- NCIT_C185690 hasExactSynonym "Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulator 1 Gene" @default.
- NCIT_C185690 hasExactSynonym "Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Isoform 3 Regulatory Factor 1 Gene" @default.
- NCIT_C185690 hasExactSynonym "Solute Carrier Family 9 (Sodium/Hydrogen Exchanger), Member 3 Regulator 1 Gene" @default.
- NCIT_C185690 hasExactSynonym "Solute Carrier Family 9, Member 3, Regulator 1 Gene" @default.
- NCIT_C185690 hasExactSynonym "Solute Carrier Family 9, Subfamily A (NHE3, Cation Proton Antiporter 3), Member 3 Regulator 1 Gene" @default.
- NCIT_C185690 type Class @default.
- NCIT_C185690 isDefinedBy ncit.owl @default.
- NCIT_C185690 label "SLC9A3R1 wt Allele" @default.
- NCIT_C185690 subClassOf NCIT_C16612 @default.
- NCIT_C185690 subClassOf NCIT_C185687 @default.
- NCIT_C185690 subClassOf NCIT_C185690 @default.
- NCIT_C185690 subClassOf NCIT_C20921 @default.
- NCIT_C185690 subClassOf NCIT_C25997 @default.
- NCIT_C185690 equivalentClass B8a9e9a685cb62519165e019c50341647 @default.
- NCIT_C185690 equivalentClass B95e57d7d192a63a6925936b5df5a5653 @default.