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1 steroid 21-hydroxylase 21-OHase cytochrome P450 XXI cytochrome P450-C21B steroid 21-monooxygenase cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2 CAH1 CPS1 CA21H CYP21 CYP21B P450c21B | |
2 phenylalanine-4-hydroxylase phe-4-monooxygenase phenylalanine 4-monooxygenase PH PKU PKU1 | |
3 survival motor neuron protein gemin-1 component of gems 1 tudor domain containing 16A survival motor neuron 1 protein SMA SMN SMA1 SMA2 SMA3 SMA4 SMA@ SMNT BCD541 GEMIN1 TDRD16A T-BCD541 | |
4 ATP-binding cassette sub-family C member 8 sulfonylurea receptor 1 sulfonylurea receptor (hyperinsulinemia) ATP-binding cassette transporter sub-family C member 8 HI SUR HHF1 MRP8 PHHI SUR1 ABC36 HRINS TNDM2 SUR1delta2 | |
5 sacsin dnaJ homolog subfamily C member 29 protein phosphatase 1, regulatory subunit 138 spastic ataxia of Charlevoix-Saguenay (sacsin) SPAX6 ARSACS DNAJC29 PPP1R138 | |
6 fibroblast growth factor receptor 3 FGFR-3 tyrosine kinase JTK4 hydroxyaryl-protein kinase fibroblast growth fa |