Defective TPR may confer susceptibility towards thyroid papillary carcinoma (TPC)
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- AAAS
- ADRACALA
- C7orf14
- CAIN
- CAN
- CG1
- D3S1231E
- GCK
- GCKR
- KIAA0023
- KIAA0095
- KIAA0169
- KIAA0197
- KIAA0225
- KIAA0618
- KIAA0791
- KIAA0906
- MP44
- MRNP41
- NDC1
- NPAP60L
- NUP107
- NUP120
- NUP121
- NUP133
- NUP153
- NUP155
- NUP160
- NUP188
- NUP205
- NUP210
- NUP214
- NUP35
- NUP358
- NUP37
- NUP42
- NUP43
- NUP50
- NUP53
- NUP54
- NUP62
- NUP75
- NUP85
- NUP88
- NUP93
- NUPL2
- PCNT1
- POM121
- POM121A
- POM121C
- RAE1
- RANBP2
- SEC13
- SEC13A
- SEC13L1
- SEC13R
- TMEM48
- TPR
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Defective UGT1A1 causes hyperbilirubinemia
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Defective UGT1A4 causes hyperbilirubinemia
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Defective VWF binding to collagen type I
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Defective VWF cleavage by ADAMTS13 variant
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- ADAMTS13
- C9orf8
- F8VWF
- VWF
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Defective binding of RB1 mutants to E2F1,(E2F2, E2F3)
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- BCL1
- CAP20
- CCND1
- CCND2
- CCND3
- CCNE
- CCNE1
- CCNE2
- CDK2
- CDK4
- CDK6
- CDKN1
- CDKN1A
- CDKN1B
- CDKN1C
- CDKN2
- CDKN6
- CIP1
- DP1
- DP2
- E2F1
- E2F2
- E2F3
- KIAA0075
- KIP1
- KIP2
- MDA6
- PIC1
- PRAD1
- RB1
- RBBP3
- SDI1
- TFDP1
- TFDP2
- WAF1
- p27
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Defective binding of VWF variant to GPIb:IX:V
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- F8VWF
- GP1BA
- GP1BB
- GP5
- GP9
- VWF
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Defective cofactor function of FVIIIa variant
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Defective factor IX causes thrombophilia
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Defective factor XII causes hereditary angioedema
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Defective gamma-carboxylation of F9
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Defective homologous recombination repair (HRR) due to BRCA1 loss of function
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- ATM
- BACH1
- BARD1
- BLM
- BRCA1
- BRCA2
- BRIP1
- C16orf75
- C7orf76
- C9orf76
- CTIP
- DNA2
- DNA2L
- DSS1
- EXO1
- EXOI
- FACD
- FANCD1
- FANCJ
- FANCN
- HEX1
- HNGS1
- HTATIP
- KAT5
- KIAA0083
- MRE11
- MRE11A
- NBN
- NBS
- NBS1
- P95
- PALB2
- PIR51
- RAD50
- RAD51
- RAD51A
- RAD51AP1
- RAD51B
- RAD51C
- RAD51D
- RAD51L1
- RAD51L2
- RAD51L3
- RBBP8
- REC2
- RECA
- RECQ2
- RECQ3
- RECQL2
- RECQL3
- RMI1
- RMI2
- RNF53
- SEM1
- SHFDG1
- SHFM1
- TIP60
- TOP3
- TOP3A
- WRN
- XRCC2
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Defective pro-SFTPB causes SMDP1 and RDS
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Defective pyroptosis
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- AIM
- CHET9
- CXXC9
- DFNA5
- DNMT
- DNMT1
- DNMT3A
- DNMT3B
- EED
- EZH2
- GSDME
- H2AB1
- H2AC14
- H2AC18
- H2AC19
- H2AC20
- H2AC4
- H2AC6
- H2AC7
- H2AC8
- H2AFA
- H2AFB1
- H2AFE
- H2AFG
- H2AFJ
- H2AFL
- H2AFM
- H2AFO
- H2AFQ
- H2AFV
- H2AFX
- H2AJ
- H2AV
- H2AX
- H2AZ2
- H2BC1
- H2BC10
- H2BC11
- H2BC12
- H2BC12L
- H2BC13
- H2BC14
- H2BC15
- H2BC17
- H2BC21
- H2BC26
- H2BC3
- H2BC4
- H2BC5
- H2BC6
- H2BC7
- H2BC8
- H2BC9
- H2BFA
- H2BFB
- H2BFC
- H2BFD
- H2BFE
- H2BFF
- H2BFG
- H2BFH
- H2BFJ
- H2BFK
- H2BFL
- H2BFN
- H2BFQ
- H2BFR
- H2BFS
- H2BFT
- H2BS1
- H2BU1
- H3-3A
- H3-3B
- H3.3A
- H3.3B
- H3C1
- H3C10
- H3C11
- H3C12
- H3C13
- H3C14
- H3C15
- H3C2
- H3C3
- H3C4
- H3C6
- H3C7
- H3C8
- H3F2
- H3F3
- H3F3A
- H3F3B
- H3FA
- H3FB
- H3FC HIST1H3C
- H3FD
- H3FF
- H3FH
- H3FI
- H3FJ
- H3FK
- H3FL
- H3FM
- H4-16
- H4/A
- H4/B
- H4/C
- H4/D
- H4/E
- H4/G
- H4/H
- H4/I
- H4/J
- H4/K
- H4/M
- H4/N
- H4/O
- H4C1
- H4C11
- H4C12
- H4C13
- H4C14
- H4C15
- H4C16
- H4C2
- H4C3
- H4C4
- H4C5
- H4C6
- H4C8
- H4C9
- H4F2
- H4FA
- H4FB
- H4FC
- H4FD
- H4FE
- H4FG
- H4FH
- H4FI
- H4FJ
- H4FK
- H4FM
- H4FN
- H4FO
- HIRIP1
- HIRIP2
- HIST1H2AB
- HIST1H2AC
- HIST1H2AD
- HIST1H2AE
- HIST1H2AJ
- HIST1H2BA
- HIST1H2BB
- HIST1H2BC
- HIST1H2BD
- HIST1H2BE
- HIST1H2BF
- HIST1H2BG
- HIST1H2BH
- HIST1H2BI
- HIST1H2BJ
- HIST1H2BK
- HIST1H2BL
- HIST1H2BM
- HIST1H2BN
- HIST1H2BO
- HIST1H3A
- HIST1H3B
- HIST1H3D
- HIST1H3E
- HIST1H3F
- HIST1H3G
- HIST1H3H
- HIST1H3I
- HIST1H3J
- HIST1H4A
- HIST1H4B
- HIST1H4C
- HIST1H4D
- HIST1H4E
- HIST1H4F
- HIST1H4H
- HIST1H4I
- HIST1H4J
- HIST1H4K
- HIST1H4L
- HIST2H2AA
- HIST2H2AA3
- HIST2H2AA4
- HIST2H2AC
- HIST2H2BE
- HIST2H3A
- HIST2H3C
- HIST2H3D
- HIST2H4
- HIST2H4A
- HIST2H4B
- HIST3H2BB
- HIST4H4
- ICERE1
- JJAZ1
- KIAA0160
- KMT6
- POLA
- POLA1
- POLA2
- PRIM1
- PRIM2
- PRIM2A
- RBAP46
- RBAP48
- RBBP4
- RBBP7
- SUZ12
- TSH2B
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Defective regulation of TLR7 by endogenous ligand
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Defective translocation of RB1 mutants to the nucleus
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Defensins
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- BD1
- BD3
- BD5
- BD6
- C20orf63
- C20orf73
- C20orf8
- C20orf87
- DEF1
- DEF3
- DEF4
- DEF5
- DEF6
- DEFA1
- DEFA1B
- DEFA2
- DEFA3
- DEFA4
- DEFA5
- DEFA6
- DEFB1
- DEFB10
- DEFB102
- DEFB103
- DEFB103A
- DEFB103B
- DEFB104
- DEFB104A
- DEFB104B
- DEFB105
- DEFB105A
- DEFB105B
- DEFB106
- DEFB106A
- DEFB106B
- DEFB107
- DEFB107A
- DEFB107B
- DEFB108
- DEFB108B
- DEFB11
- DEFB110
- DEFB111
- DEFB112
- DEFB113
- DEFB114
- DEFB115
- DEFB116
- DEFB117
- DEFB118
- DEFB119
- DEFB12
- DEFB120
- DEFB121
- DEFB123
- DEFB124
- DEFB125
- DEFB126
- DEFB127
- DEFB128
- DEFB129
- DEFB13
- DEFB130
- DEFB130A
- DEFB130B
- DEFB131
- DEFB131A
- DEFB132
- DEFB133
- DEFB134
- DEFB135
- DEFB136
- DEFB14
- DEFB15
- DEFB16
- DEFB18
- DEFB19
- DEFB2
- DEFB20
- DEFB21
- DEFB23
- DEFB24
- DEFB25
- DEFB26
- DEFB27
- DEFB28
- DEFB29
- DEFB3
- DEFB30
- DEFB31
- DEFB32
- DEFB4
- DEFB4A
- DEFB4B
- DEFB5
- DEFB6
- DEFB7
- DEFB8
- ESC42
- HBD1
- MRS
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Degradation of AXIN
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- AXIN
- AXIN1
- AXIN2
- C7orf76
- DSS1
- HC2
- HC3
- HC8
- HC9
- HSPC
- IFI5111
- KIAA0072
- KIAA0077
- KIAA0107
- LMP10
- LMP2
- LMP7
- LMPX
- LMPY
- MB1
- MCB1
- MECL1
- MIP224
- MOV34L
- MSS1
- NU
- PARP5A
- PARP5B
- PARPL
- PFAAP4
- POH1
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMA7L
- PSMA8
- PSMB1
- PSMB10
- PSMB11
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB5i
- PSMB6
- PSMB6i
- PSMB7
- PSMB8
- PSMB9
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD10
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD4
- PSMD5
- PSMD6
- PSMD7
- PSMD8
- PSMD9
- PSME1
- PSME2
- PSME3
- PSME4
- PSMF1
- RING10
- RING12
- RNF146
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SMURF2
- SUG1
- SUG2
- TANK2
- TBP1
- TBP7
- TIN1
- TINF1
- TNKL
- TNKS
- TNKS1
- TNKS2
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Y2
- Z
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Degradation of DVL
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- C3IP1
- C7orf76
- CUL3
- DACT1
- DPR1
- DSS1
- DVL1
- DVL2
- DVL3
- HC2
- HC3
- HC8
- HC9
- HECW1
- HNG3
- HSPC
- IFI5111
- KIAA0072
- KIAA0077
- KIAA0107
- KIAA0208
- KIAA0322
- KIAA0617
- KLHL12
- LMP10
- LMP2
- LMP7
- LMPX
- LMPY
- MB1
- MCB1
- MECL1
- MIP224
- MOV34L
- MSS1
- NEDL1
- NU
- PFAAP4
- POH1
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMA7L
- PSMA8
- PSMB1
- PSMB10
- PSMB11
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB5i
- PSMB6
- PSMB6i
- PSMB7
- PSMB8
- PSMB9
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD10
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD4
- PSMD5
- PSMD6
- PSMD7
- PSMD8
- PSMD9
- PSME1
- PSME2
- PSME3
- PSME4
- PSMF1
- RBX1
- RING10
- RING12
- RNF75
- ROC1
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SUG1
- SUG2
- TBP1
- TBP7
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Y2
- Z
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Degradation of GABA
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Degradation of GLI1 by the proteasome
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- BTRC
- BTRCP
- C14orf41
- C7orf76
- CUL1
- DSS1
- EMC19
- FBW1A
- FBXW1A
- GLI
- GLI1
- HC2
- HC3
- HC8
- HC9
- HSPC
- IFI5111
- ITCH
- KIAA0072
- KIAA0077
- KIAA0107
- LMP10
- LMP2
- LMP7
- LMPX
- LMPY
- MB1
- MCB1
- MECL1
- MIP224
- MOV34L
- MSS1
- NU
- NUMB
- OCP2
- PFAAP4
- PKACA
- POH1
- PRKACA
- PRKACB
- PRKACG
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMA7L
- PSMA8
- PSMB1
- PSMB10
- PSMB11
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB5i
- PSMB6
- PSMB6i
- PSMB7
- PSMB8
- PSMB9
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD10
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD4
- PSMD5
- PSMD6
- PSMD7
- PSMD8
- PSMD9
- PSME1
- PSME2
- PSME3
- PSME4
- PSMF1
- RBX1
- RING10
- RING12
- RNF75
- ROC1
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SKP1
- SKP1A
- SUFU
- SUG1
- SUG2
- TBP1
- TBP7
- TCEB1L
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Y2
- Z
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Degradation of GLI2 by the proteasome
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- BTRC
- BTRCP
- C7orf76
- CSNK1A1
- CUL1
- DSS1
- EMC19
- FBW1A
- FBXW1A
- GLI2
- GSK3B
- HC2
- HC3
- HC8
- HC9
- HSPC
- IFI5111
- KIAA0072
- KIAA0077
- KIAA0107
- LMP10
- LMP2
- LMP7
- LMPX
- LMPY
- MB1
- MCB1
- MECL1
- MIP224
- MOV34L
- MSS1
- NU
- OCP2
- PFAAP4
- PKACA
- POH1
- PRKACA
- PRKACB
- PRKACG
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMA7L
- PSMA8
- PSMB1
- PSMB10
- PSMB11
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB5i
- PSMB6
- PSMB6i
- PSMB7
- PSMB8
- PSMB9
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD10
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD4
- PSMD5
- PSMD6
- PSMD7
- PSMD8
- PSMD9
- PSME1
- PSME2
- PSME3
- PSME4
- PSMF1
- RBX1
- RING10
- RING12
- RNF75
- ROC1
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SKP1
- SKP1A
- SUFU
- SUG1
- SUG2
- TBP1
- TBP7
- TCEB1L
- THP
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Y2
- Z
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Degradation of beta-catenin by the destruction complex
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- AMER1
- APC
- AXIN
- AXIN1
- BTRC
- BTRCP
- C7orf76
- CSNK1A1
- CTNNB
- CTNNB1
- CUL1
- DP2.5
- DSS1
- EMC19
- FAM123B
- FBW1A
- FBXW1A
- GSK3B
- HC2
- HC3
- HC8
- HC9
- HSPC
- IFI5111
- KIAA0044
- KIAA0072
- KIAA0077
- KIAA0107
- LMP10
- LMP2
- LMP7
- LMPX
- LMPY
- MB1
- MCB1
- MECL1
- MIP224
- MOV34L
- MSS1
- NU
- OCP2
- PFAAP4
- POH1
- PPP2CA
- PPP2CB
- PPP2R1A
- PPP2R1B
- PPP2R5A
- PPP2R5B
- PPP2R5C
- PPP2R5D
- PPP2R5E
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMA7L
- PSMA8
- PSMB1
- PSMB10
- PSMB11
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB5i
- PSMB6
- PSMB6i
- PSMB7
- PSMB8
- PSMB9
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD10
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD4
- PSMD5
- PSMD6
- PSMD7
- PSMD8
- PSMD9
- PSME1
- PSME2
- PSME3
- PSME4
- PSMF1
- RBX1
- RING10
- RING12
- RNF75
- ROC1
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SKP1
- SKP1A
- SUG1
- SUG2
- TBP1
- TBP7
- TCEB1L
- TRABID
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- WTX
- X
- Y
- Y2
- Z
- ZRANB1
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Degradation of cysteine and homocysteine
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- ADO
- C10orf22
- CDO1
- CSAD
- CSD
- CTH
- FMO1
- GADL1
- GOT2
- KYAT4
- MPST
- TRX2
- TST
- TST2
- TXN2
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Degradation of the extracellular matrix
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- A2M
- ACAN
- AD3
- ADAM10
- ADAM15
- ADAM8
- ADAMTS1
- ADAMTS11
- ADAMTS16
- ADAMTS18
- ADAMTS21
- ADAMTS4
- ADAMTS5
- ADAMTS8
- ADAMTS9
- ADMP2
- AGC1
- BCAN
- BEHAB
- BMP1
- BNSP
- BSG
- CALPM
- CANP3
- CANPL1
- CANPL2
- CANPL3
- CANPX
- CAPN1
- CAPN10
- CAPN11
- CAPN12
- CAPN13
- CAPN14
- CAPN15
- CAPN2
- CAPN3
- CAPN4
- CAPN5
- CAPN6
- CAPN7
- CAPN8
- CAPN9
- CAPNS
- CAPNS1
- CAPNS2
- CASP3
- CAST
- CATL2
- CD44
- CDH1
- CDHE
- CEGF3
- CLG
- CLG1
- CLG4A
- CLG4B
- CPAMD5
- CPP32
- CSPG1
- CSPG7
- CTSG
- CTSK
- CTSL
- CTSL1
- CTSL2
- CTSO
- CTSO2
- CTSS
- CTSU
- CTSV
- DCN
- ELA2
- ELANE
- HME
- HSPG2
- HTRA
- HTRA1
- KIAA0253
- KIAA0533
- KIAA0688
- KIAA0932
- KIAA1312
- KIAA1346
- KIAA1845
- KIAA1907
- KIAA2029
- KLK7
- KUZ
- LAMA3
- LAMA5
- LAMB1
- LAMB2
- LAMB2T
- LAMB3
- LAMC1
- LAMC2
- LAMNA
- LAMNB1
- LAMNB2
- LHR
- MADM
- MDC15
- MDU2
- MDU3
- METH1
- METH2
- MIC4
- MMP1
- MMP10
- MMP11
- MMP12
- MMP13
- MMP14
- MMP15
- MMP18
- MMP19
- MMP2
- MMP20
- MMP3
- MMP7
- MMP8
- MMP9
- MPSL1
- MS2
- MSK16
- NCL1
- NCL2
- NCL3
- NCL4
- NCSTN
- NID
- NID1
- OPN
- OPT
- OPTC
- PALBH
- PCOLC
- PLG
- PRSS11
- PRSS6
- PS1
- PSEN1
- PSNL1
- PUMP1
- RASI
- SCCE
- SCUBE1
- SCUBE3
- SLRR1B
- SOLH
- SPP1
- STMY1
- STMY2
- STMY3
- TLL
- TLL1
- TLL2
- TMPRSS6
- UVO
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