Table 1 Top ten high-frequency gene variants of carriers and the related diseases
From: Abnormal biochemical indicators of neonatal inherited metabolic disease in carriers
Top ten high-frequency gene variants | Related diseases | NO. of case(percentage) | |
|---|---|---|---|
1 | UGT1A1 | Crigler-najjar syndrome | 312 (49.4) |
2 | GJB2 | Deafness | 132 (20.9) |
3 | DUOX2 | Congenital Hypothyroidism | 64 (10.1) |
4 | SLC22A5 | Primary carnitine deficiency | 31 (4.9) |
5 | GALC | Krabbe disease | 29 (4.6) |
6 | ATP7B | Wilson disease | 27 (4.3) |
7 | PAH | Hyperphenylalaninemia | 22 (3.5) |
8 | HBA1, HBA2 | Alpha-thalassemia | 21 (3.3) |
9 | ACADS | Short-chain acyl-CoA dehydrogenase deficiency | 16 (2.5) |
10 | SLC26A4 | Deafness | 16 (2.5) |