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Amino Acid Metabolism, Inborn Errors
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144 genes has been reported with Amino Acid Metabolism, Inborn Errors
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[Click  to re-sort the table]
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Meta-analysis Publication
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MTHFR
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309
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10
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| PAH
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77
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1
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| F5
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26
|
3
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| CBS
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25
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1
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| MTRR
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22
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0
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| F2
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22
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2
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| MTR
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21
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1
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| OCA2
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15
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0
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| TYR
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11
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0
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| SLC45A2
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10
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0
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| SLC25A13
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9
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0
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| NOS3
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9
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0
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| APOE
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9
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0
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| TYRP1
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7
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0
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| HPS1
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7
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0
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| TCN2
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6
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0
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| NDUFB3
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6
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0
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| TYMS
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5
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0
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| SHMT1
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4
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0
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| ACE
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4
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0
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| FOLH1
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4
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0
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| MMACHC
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4
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0
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| GCH1
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4
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0
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| BHMT
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4
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0
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| MC1R
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3
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0
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| PTS
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3
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0
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| HPS4
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3
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0
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| HPS3
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3
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0
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| MTHFD1
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3
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0
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| SERPINE1
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3
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0
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| MUT
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3
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0
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| GCDH
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3
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0
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| PON1
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3
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0
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| DHFR
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3
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0
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| GP1BA
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2
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0
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| MS
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2
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1
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| PCCB
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2
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0
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| OTC
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2
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0
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| TCN1
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2
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0
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| OA1
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2
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0
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| SLC24A5
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2
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0
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| JAK2
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2
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0
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| QDPR
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2
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0
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| MMAA
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2
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0
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| BTD
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2
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0
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| ACSF3
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2
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0
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| PCCA
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2
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0
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| NNMT
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2
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0
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| GPR143
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2
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0
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| PRF1
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1
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0
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| ENOSF1
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1
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0
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| PRODH
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1
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0
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| RET
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1
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0
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| SLC19A1
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1
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0
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| IKBKAP
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1
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0
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| AP3B1
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1
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0
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| GLDC
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1
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0
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| Cyp7a1
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1
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0
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| DNMT3A
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1
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0
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| Saa1
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1
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0
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| PLAT
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1
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0
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| PNPLA2
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1
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0
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| FOLR1
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1
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0
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| GNAI3
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1
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0
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| ITGB3
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1
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0
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| SILV
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1
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0
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| SLC22A5
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1
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0
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| VWF
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1
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0
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| HPS6
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1
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0
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| Saa2
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1
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0
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| SCARB1
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1
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0
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| CPT2
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1
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0
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| HIBCH
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1
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0
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| GCHFR
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1
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0
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| CIMT
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1
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0
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| ABHD5
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1
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0
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| CFB
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1
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0
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| SKIV2L
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1
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0
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| TNFAIP1
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1
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0
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| C2
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1
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0
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| SUCLA2
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1
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0
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| UCP2
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1
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0
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| SVEP1
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1
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0
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| MCEE
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1
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0
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| ASL
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1
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0
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| PON2
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1
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0
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| HPS5
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1
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0
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| Pon1
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1
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0
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| HDLCQ1
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1
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0
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| BHMT2
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1
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0
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| AMT
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1
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0
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| HMGA2
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1
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1
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| STK19
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1
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0
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| Mthfr
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1
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0
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| SLCO1B1
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1
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0
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| Apoa1
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1
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0
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| GCSH
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1
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0
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| IVD
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1
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0
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| BCHE
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1
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0
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| BCKDHA
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1
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0
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| BCKDHB
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1
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0
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| HCC
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1
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0
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| ABCD4
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1
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0
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| SLC38A8
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1
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0
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| MMADHC
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1
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0
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| HP
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1
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0
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| GSTP1
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1
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0
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| ACADSB
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1
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0
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| ASS1
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1
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0
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| MTHFD2
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1
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0
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| AGTR1
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1
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0
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| ETFDH
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1
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0
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| SERPINA1
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1
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1
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| XBP1
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1
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0
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| HERC2
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1
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0
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| PCBD1
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1
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0
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| CD320
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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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| SLC25A15
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1
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0
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| AHCY
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1
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0
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| ALOX5
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1
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0
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| GALT
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1
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0
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| APOB
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1
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0
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| SUCLG1
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1
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0
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| HFE
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1
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0
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| ACADM
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1
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1
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| ARG2
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1
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0
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| LAMP2
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1
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0
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| Ppara
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1
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0
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| COMT
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1
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0
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| ADRA2B
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1
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0
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| Nr1h4
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1
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0
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| ACAT1
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1
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0
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| LMBRD1
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1
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0
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| ADRB1
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1
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0
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| Xbp1
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1
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0
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| NDUFS4
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1
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0
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| SLC17A1
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1
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0
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| Crot
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1
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0
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| RDBP
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1
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0
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| RAB27A
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1
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0
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| RFC1
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1
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0
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| MMAB
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1
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0
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| ACHE
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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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