Literature summary for 3.1.4.1 extracted from

Keene, K.L.; Mychaleckyj, J.C.; Smith, S.G.; Leak, T.S.; Perlegas, P.S.; Langefeld, C.D.; Freedman, B.I.; Rich, S.S.; Bowden, D.W.; Sale, M.M.
Association of the distal region of the ectonucleotide pyrophosphatase/phosphodiesterase 1 gene with type 2 diabetes in an African-American population enriched for nephropathy (2008), Diabetes, 57, 1057-1062.

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Application

Application	Comment	Organism
medicine	single nucleotide polymorphisms of the ENPP1 gene are associated with type 2 diabetic end-stage renal disease in African-Americans	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
K121Q	the mutation does not reveal evidence for association with type 2 diabetic end-stage renal disease in African-Americans	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
ectonucleotide pyrophosphatase/phosphodiesterase 1	-	Homo sapiens
ENPP1	-	Homo sapiens
PC-1	-	Homo sapiens
plasma cell membrane glycoprotein	-	Homo sapiens

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Release 2023.1 (January 2023)