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Purine-Pyrimidine Metabolism, Inborn Errors
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178 genes has been reported with Purine-Pyrimidine Metabolism, Inborn Errors
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[Click  to re-sort the table]
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Meta-analysis Publication
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ABCG2
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44
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8
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| SLC2A9
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37
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6
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| SLC22A12
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18
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2
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| GCKR
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12
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5
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| SLC22A11
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10
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4
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| SLC17A1
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10
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4
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| DPYD
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9
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0
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| PDZK1
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6
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3
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| NLRP3
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5
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0
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| TPMT
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5
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0
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| LRRC16A
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5
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1
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| SLC16A9
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5
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3
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| SLC17A3
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5
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1
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| MEFV
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4
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0
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| HLA-B
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4
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0
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| IL1A
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4
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0
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| IL1B
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4
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0
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| LRP2
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3
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0
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| ALPK1
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3
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0
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| A1CF
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3
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0
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| PRKG2
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3
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0
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| SLC17A4
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3
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1
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| CNIH2
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3
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1
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| IL8
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3
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0
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| MAF
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3
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1
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| CUX2
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2
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1
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| IL23R
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2
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0
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| CARD8
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2
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0
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| KCNQ1
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2
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0
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| SLC17A2
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2
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0
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| ALDH2
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2
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0
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| P2RX7
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2
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0
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| TNF
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2
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0
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| IGF1R
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2
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1
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| HLF
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2
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1
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| HPRT1
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2
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0
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| TLR4
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2
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0
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| ZNF518B
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2
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0
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| COMT
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2
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0
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| PRKAG2
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2
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1
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| INHBC
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2
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2
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| APOA1
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2
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1
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| RFX3
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2
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0
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| VDR
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2
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0
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| TRIM46
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2
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0
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| PPARGC1A
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2
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0
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| ALDH16A1
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2
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0
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| ADRB3
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2
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0
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| PDE1C
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2
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0
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| HNF4G
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2
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0
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| MYL2
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2
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1
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| BCAS3
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2
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0
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| RARB
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1
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0
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| CCL2
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1
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0
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| UMOD
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1
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0
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| ACVR1B
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1
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0
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| INS
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1
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0
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| PKD2
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1
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1
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| HSPD1
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1
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0
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| IL6
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1
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0
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| IL17A
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1
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1
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| LIF
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1
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0
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| OR13G1
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1
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1
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| PPARD
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1
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0
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| STAT4
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1
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0
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| CYP2C9
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1
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0
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| FSTL4
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1
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0
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| HLA-A
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1
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0
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| TMEM171
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1
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0
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| SLC2A12
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1
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0
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| ALS2CR8
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1
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0
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| ACVRL1
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1
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0
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| WDR1
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1
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0
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| CHGA
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1
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0
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| IL17RA
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1
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1
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| OR2L2
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1
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1
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| RREB1
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1
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1
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| ATXN2
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1
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0
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| CSMD1
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1
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0
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| SLC22A1
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1
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0
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| IL10
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1
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0
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| INSC
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1
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0
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| KTN1
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1
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0
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| DYTN
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1
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0
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| UGT1A1
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1
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0
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| RBFOX1
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1
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0
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| SLC2A6
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1
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0
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| PPARGC1B
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1
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0
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| ESR1
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1
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0
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| JAZF1
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1
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0
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| NRBP1
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1
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0
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| HLA-C
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1
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0
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| LIPC
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1
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0
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| PDK2
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1
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0
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| TFAP2A
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1
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0
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| VIP
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1
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1
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| NRXN1
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1
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0
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| IL17F
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1
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1
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| GLCCI1
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1
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0
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| CYP2A6
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1
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0
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| HLA-DRB1
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1
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0
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| NDUFA4
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1
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0
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| SLC22A18AS
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1
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0
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| B3GNT4
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1
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0
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| OR7E2P
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1
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0
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| UBE2Q2
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1
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0
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| ABCG1
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1
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0
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| PHF14
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1
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0
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| BMS1
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1
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0
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| AOX1
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1
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0
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| LHFPL3
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1
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0
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| MAOA
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1
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0
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| MAP3K11
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1
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0
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| CCDC157
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1
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0
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| ABCC8
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1
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0
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| PVT1
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1
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0
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| CACNA2D3
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1
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0
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| SHBG
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1
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0
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| ELOVL6
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1
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0
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| CASP1
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1
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0
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| APOC3
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1
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1
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| IL18
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1
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0
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| ABCC4
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1
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0
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| CHRNB3
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1
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0
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| CYP2B6
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1
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0
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| ABCA1
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1
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0
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| GLI2
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1
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0
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| CRP
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1
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0
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| CYP1A2
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1
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0
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| EGF
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1
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0
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| ABCC9
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1
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0
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| ACTR2
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1
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0
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| CLNK
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1
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0
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| SLC13A3
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1
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0
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| TPST1
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1
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0
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| SLC22A6
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1
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0
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| ADAM23
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1
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0
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| VEGFA
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1
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0
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| WNT5B
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1
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0
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| IL4
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1
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0
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| RELN
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1
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0
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| BDKRB2
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1
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0
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| HGF
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1
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0
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| CHRNA3
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1
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0
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| ADAMTS14
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1
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0
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| BAZ1B
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1
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0
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| IL1RL1
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1
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0
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| MLXIPL
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1
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0
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| NUDT15
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1
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0
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| PTPRD
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1
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0
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| ALX4
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1
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0
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| HHIP
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1
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0
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| SMYD3
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1
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0
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| STC1
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1
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0
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| TGFB1
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1
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0
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| HLA-DRB4
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1
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0
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| NFAT5
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1
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0
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| SLC22A7
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1
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0
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| KDR
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1
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0
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| ATP1A4
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1
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0
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| FOXA2
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1
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0
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| IL1R1
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1
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0
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| SFMBT1
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1
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0
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| PRKCA
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1
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0
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| SLC28A2
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1
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0
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| SLC22A8
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1
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0
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| CYP2C8
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1
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0
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| DBP
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1
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0
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| IL12B
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1
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0
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| INHBB
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1
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0
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| ITPA
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1
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0
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| CFTR
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1
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0
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| CYP2E1
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1
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0
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| R3HDM2
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1
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1
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| ATG16L1
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1
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0
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| NOD2
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1
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0
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| IL33
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1
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0
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| OR1R1P
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1
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0
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Note: The number of publications displayed in this table will differ from the number displayed in the HuGE Literature Finder as the number
in Phenopedia reflects only the indexed disease term, but the number in the HuGE Literature Finder
reflects all text searches of the disease term including the indexed term.
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