Spreadsheet: 196db369-9765-4ed6-9cc2-5248df92217d
Sheet: Sheet1

Unnamed: 0 | Unnamed: 1 | Unnamed: 2 | Clinical Positives | Unnamed: 4 | Clinical Negatives | Unnamed: 6 | Unnamed: 7 | Unnamed: 8
Gene ID | Official [NAME] | Official Full Name | Secretions | Reabsorbtions | Secretions | Reabsorbtions | Validating OMIM Phenotypes | References
1594 | CYP27B1 | cytochrome P450, family 27, subfamily B, polypeptide 1 | 1a25dhvitd3 |  | 25hvitd3 |  | #264700 | ([NAME], 1998; Wang et al, 1998)
5740 | PTGIS | prostaglandin I2 (prostacyclin) synthase | prostgi2 |  |  |  | #145500 | (Ito et al, 2007; Nakayama et al, 2002)
7498 | XDH | xanthine dehydrogenase | urate |  |  |  | #278300 | ([NAME] and [NAME], 1959)
4860 | NP | nucleoside phosphorylase | urate |  |  |  | +164050 | (Sasaki et al, 1998)
1644 | DDC | dopa decarboxylase (aromatic L-amino acid decarboxylase) | trypta (increased 5HTP excretion) | [NAME] (increased 5HTP excretion) |  |  | #608643 | ([NAME] and [NAME], 1990)
1340 | COX6B1 | cytochrome c oxidase subunit Vib polypeptide 1 (ubiquitous) |  | [NAME],[NAME],pro-L(amino aciduria);hco3 |  | lac-L | #220110 | ([NAME], 1991; [NAME] et al, 1985)
126328 | NDUFA11 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4694 | NDUFA1 | NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4719 | NDUFS1 | NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase) |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4720 | NDUFS2 | NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4723 | NDUFV1 | NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4724 | NDUFS4 | NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase) |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
4726 | NDUFS6 | NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase) |  | glc;cit;glu-L |  |  | #252010 | (Moreadith et al, 1984)
5625 | [NAME] | proline dehydrogenase (oxidase) 1 |  | [NAME] |  |  | #239500 | ([NAME] et al, 2003; [NAME], 2001; [NAME], 1968)
27089 | UQCRQ | ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa |  | [NAME],[NAME],pro-L(amino aciduria) |  |  | #124000 | (de Lonlay et al, 2001)
7381 | UQCRB | ubiquinol-cytochrome c reductase binding protein |  | [NAME],[NAME],pro-L(amino aciduria) |  |  | #124000 | (de Lonlay et al, 2001)
2271 | FH | fumarate hydratase |  | [NAME] |  |  | #606812 | ([NAME], 1986; Gellera et al, 1990)
6519 | SLC3A1 | solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 |  | [NAME] |  |  | #220100 | (Harnevik et al, 2001)
6523 | SLC5A1 | solute carrier family 5 (sodium/glucose cotransporter), member 1 |  | h2o |  | fru | #606824 | (Elsas et al, 1970)
6524 | SLC5A2 | solute carrier family 5 (sodium/glucose cotransporter), member 2 |  | glc |  |  | #233100 | ([NAME], 2002)
11136 | SLC7A9 | solute carrier family 7 (cationic amino acid transporter, y+ system), member 9 |  | [NAME] |  |  | #220100 | (Feliubadaló et al, 1999)
4952 | OCRL | oculocerebrorenal syndrome of Lowe |  | pi;ca2;(amino aciduria) |  |  | #300555;#309000 | (Hoopes et al, 2005; Charnas et al, 1991; [NAME] et al, 1969)
6505 | SLC1A1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system [NAME]), member 1 |  | [NAME] |  |  | 222730 | (Teijema et al, 1974)
6521 | SLC4A1 | solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) |  | [NAME] |  |  | #179800;#611590 | (Randall 1967; [NAME], 1998)
6559 | SLC12A3 | solute carrier family 12 (sodium/chloride transporters), member 3 |  | k | 1a25dhvitd3 |  | #263800 | (Ng et al, 2006)
8671 | SLC4A4 | solute carrier family 4, sodium bicarbonate cotransporter, member 4 |  | hco3 |  |  | #604278 | (Igarashi et al, 2001)