Defective CHST3 causes SEDCJD
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- BCAN
- BEHAB
- BGN
- CALEB
- CHST3
- CSPG2
- CSPG3
- CSPG4
- CSPG5
- CSPG7
- DCN
- MCSP
- NCAN
- NEUR
- NGC
- SLRR1A
- SLRR1B
- VCAN
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Homo sapiens (human)
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Defective CHSY1 causes TPBS
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- BCAN
- BEHAB
- BGN
- CALEB
- CHSY
- CHSY1
- CSPG2
- CSPG3
- CSPG4
- CSPG5
- CSPG7
- CSS1
- DCN
- KIAA0990
- MCSP
- NCAN
- NEUR
- NGC
- SLRR1A
- SLRR1B
- VCAN
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Homo sapiens (human)
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Branched-chain ketoacid dehydrogenase kinase deficiency
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- BCATE2
- BCKDHA
- BCKDHB
- BCKDHE2
- BCKDK
- DBT
- DLD
- GCSL
- LAD
- PHE3
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Homo sapiens (human)
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H139Hfs13* PPM1K causes a mild variant of MSUD
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- BCATE2
- BCKDHA
- BCKDHB
- BCKDHE2
- DBT
- DLD
- GCSL
- LAD
- PHE3
- PP2CM
- PPM1K
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Homo sapiens (human)
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BCKDH synthesizes BCAA-CoA from KIC, KMVA, KIV
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- BCATE2
- BCKDHA
- BCKDHB
- BCKDHE2
- DBT
- DLD
- GCSL
- LAD
- PHE3
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Homo sapiens (human)
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Loss-of-function mutations in DBT cause MSUD2
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- BCATE2
- BCKDHA
- BCKDHB
- BCKDHE2
- DBT
- DLD
- GCSL
- LAD
- PHE3
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Homo sapiens (human)
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Loss-of-function mutations in DLD cause MSUD3/DLDD
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- BCATE2
- BCKDHA
- BCKDHB
- BCKDHE2
- DBT
- DLD
- GCSL
- LAD
- PHE3
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Homo sapiens (human)
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PTK6 Regulates Cell Cycle
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- BCL1
- BRK
- CCND1
- CCNE
- CCNE1
- CDK2
- CDK4
- CDKN1B
- CDKN2
- KIP1
- PRAD1
- PTK6
- p27
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Homo sapiens (human)
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Regulation of MITF-M-dependent genes involved in cell cycle and proliferation
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- BCL1
- CAP20
- CCNB
- CCNB1
- CCND1
- CDK2
- CDKN1
- CDKN1A
- CDKN2
- CDKN2A
- CIP1
- CTNNB
- CTNNB1
- HDAC1
- HINT
- HINT1
- LEF1
- MDA6
- MET
- MTS1
- PIC1
- PKCI1
- PLK
- PLK1
- PRAD1
- PRKCNH1
- RPD3L1
- SDI1
- SIN3A
- TBX2
- TCF1
- TCF3
- TCF4
- TCF7
- TCF7L1
- TCF7L2
- WAF1
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Homo sapiens (human)
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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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Homo sapiens (human)
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E3 ubiquitin ligases ubiquitinate target proteins
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- BCL10
- BLU
- BRE1A
- BRE1B
- C1orf28
- CDC73
- CIPER
- CLAP
- CTR9
- DER1
- DERL1
- H2BC1
- H2BC10
- H2BC11
- H2BC12
- H2BC13
- H2BC14
- H2BC15
- H2BC17
- H2BC3
- H2BC4
- H2BC5
- H2BC6
- H2BC7
- H2BC8
- H2BC9
- H2BFA
- H2BFB
- H2BFC
- H2BFD
- H2BFE
- H2BFF
- H2BFG
- H2BFH
- H2BFJ
- H2BFK
- H2BFL
- H2BFN
- H2BFR
- H2BFT
- HEL-220
- HEL-S-70
- HIP116A
- HIRIP1
- HIRIP2
- HIST1H2BA
- HIST1H2BB
- HIST1H2BC
- HIST1H2BD
- HIST1H2BE
- HIST1H2BF
- HIST1H2BG
- HIST1H2BH
- HIST1H2BI
- HIST1H2BJ
- HIST1H2BK
- HIST1H2BL
- HIST1H2BM
- HIST1H2BN
- HIST1H2BO
- HLA-A
- HLA-B
- HLAA
- HLTF
- HRPT2
- HYRC
- HYRC1
- KIAA0155
- KIAA0161
- KIAA0252
- KIAA0661
- KIAA1844
- KIAA2023
- LEO1
- MMS2
- NCUBE2
- PAF1
- PAF3
- PCNA
- PD2
- PEX10
- PEX12
- PEX13
- PEX14
- PEX2
- PMP3
- PMP35
- PRKDC
- PUBC1
- PXMP3
- RAD18
- RAD6A
- RAD6B
- RDL
- RNF144
- RNF144A
- RNF152
- RNF181
- RNF20
- RNF40
- RNF69
- RNF72
- RNF73
- RNF80
- RPS27A
- RRAGA
- RTF1
- SELENOS
- SELS
- SFT
- SH2BP1
- SHPRH
- SKIC8
- SMARCA3
- SNF2L3
- TMEM129
- TSH2B
- UBA52
- UBA80
- UBB
- UBC
- UBC4
- UBC5A
- UBC5B
- UBC5C
- UBCE7
- UBCE7IP4
- UBCEP1
- UBCEP2
- UBCH1
- UBCH4
- UBCH5
- UBCH5A
- UBCH5B
- UBCH5C
- UBCH6
- UBCH7
- UBE2A
- UBE2B
- UBE2D1
- UBE2D2
- UBE2D3
- UBE2E1
- UBE2J2
- UBE2L3
- UBE2N
- UBE2V2
- UEV2
- US11
- VCP
- VIMP
- WAC
- WDR61
- ZBU1
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Homo sapiens (human)
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NOTCH1 Intracellular Domain Regulates Transcription
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- BCL8B
- BHLHB31
- BHLHB32
- BHLHB33
- BHLHB38
- BHLHB39
- BHLHE39
- BHLHE78
- CBP
- CCNC
- CDK8
- CG1
- CHF1
- CHF2
- CREBBP
- CTG26
- CUL1
- CXorf6
- EMC19
- EP300
- GCN5
- GCN5L2
- GRG4
- GRL
- HDAC1
- HDAC10
- HDAC11
- HDAC2
- HDAC3
- HDAC4
- HDAC5
- HDAC6
- HDAC7
- HDAC7A
- HDAC7B
- HDAC8
- HDAC9
- HDACL1
- HDRP
- HERP
- HERP1
- HERP2
- HES1
- HES5
- HESR1
- HEY1
- HEY2
- HEYL
- HIF1A
- HL
- HRT1
- HRT2
- HRT3
- HRY
- IGKJRB
- IGKJRB1
- IRA1
- KAT2A
- KAT2B
- KIAA0200
- KIAA0288
- KIAA0600
- KIAA0744
- KIAA0901
- KIAA1047
- KIAA1261
- KIAA1544
- KIAA1816
- KIAA1819
- LYST2
- MAML1
- MAML2
- MAML3
- MAMLD1
- MITR
- MOP1
- MYC
- NBEA
- NCOR1
- NCOR2
- NOTCH1
- OCP2
- P300
- PASD8
- PCAF
- RBPJ
- RBPJK
- RBPSUH
- RBX1
- RNF75
- ROC1
- RPD3L1
- RPS27A
- SKIIP
- SKIP
- SKP1
- SKP1A
- SNW1
- TAN1
- TBL1
- TBL1X
- TBL1XR1
- TBLR1
- TCEB1L
- TLE1
- TLE2
- TLE4
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
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Homo sapiens (human)
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HCN channels
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- BCNG1
- BCNG2
- HCN1
- HCN2
- HCN3
- HCN4
- KIAA1535
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Homo sapiens (human)
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Opsins
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- BCP
- ECPN
- GCP
- GPR136
- MOP
- OPN1LW
- OPN1MW
- OPN1SW
- OPN2
- OPN3
- OPN4
- OPN5
- PGR12
- RCP
- RGR
- RHO
- RRH
- TMEM13
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Homo sapiens (human)
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Defective visual phototransduction due to OPN1SW loss of function
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Homo sapiens (human)
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Complex III assembly
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- BCS1
- BCS1L
- BR
- BRAWNIN
- BZFB
- C11orf83
- C12orf73
- C20orf44
- C3orf78
- C5orf31
- C6orf125
- C6orf149
- COB
- CYC1
- CYTB
- DNAJC20
- FRDA
- FXN
- GRP75
- HSC20
- HSCB
- HSPA9
- HSPA9B
- ISD11
- LETM1
- LYRM4
- LYRM7
- MNF1
- MT-CYB
- MTCYB
- MZM1L
- SMIM4
- TTC19
- UCRC
- UQBP
- UQCC
- UQCC1
- UQCC2
- UQCC3
- UQCC5
- UQCC6
- UQCR
- UQCR10
- UQCR11
- UQCRB
- UQCRC1
- UQCRC2
- UQCRFS1
- UQCRH
- UQCRQ
- X25
- mt-HSP70
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Homo sapiens (human)
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Beta defensins
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- BD1
- BD3
- BD5
- BD6
- C20orf63
- C20orf73
- C20orf8
- C20orf87
- CCR2
- CCR6
- CKRL3
- CMKBR2
- CMKBR6
- DEFB1
- DEFB10
- DEFB102
- DEFB103
- DEFB103A
- DEFB103B
- DEFB104
- DEFB104A
- DEFB104B
- DEFB105
- DEFB105A
- DEFB105B
- DEFB106
- DEFB106A
- DEFB106B
- DEFB107
- DEFB107A
- DEFB107B
- DEFB108
- DEFB108A
- DEFB108B
- DEFB108C
- DEFB108P1
- DEFB108P2
- DEFB109B
- DEFB109P1B
- 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
- GPR29
- HBD1
- KIAA0012
- STRL22
- TIL4
- TLR1
- TLR2
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Homo sapiens (human)
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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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Homo sapiens (human)
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Dectin-2 family
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- BDCA2
- C6orf205
- CA125
- CLEC10A
- CLEC4A
- CLEC4C
- CLEC4D
- CLEC4E
- CLEC6A
- CLECSF10
- CLECSF11
- CLECSF13
- CLECSF14
- CLECSF6
- CLECSF7
- CLECSF8
- CLECSF9
- DCIR
- DECTIN2
- DLEC
- DRCC1
- FCER1G
- FYN
- HECL
- HML
- JTK8
- KIAA1359
- LLIR
- LYN
- MCL
- MG2
- MINCLE
- MUC1
- MUC11
- MUC12
- MUC13
- MUC15
- MUC16
- MUC17
- MUC19
- MUC2
- MUC20
- MUC21
- MUC3
- MUC3A
- MUC3B
- MUC4
- MUC5
- MUC5AC
- MUC5B
- MUC6
- MUC7
- MUCL1
- PLCG2
- PUM
- RECC
- SBEM
- SMUC
- SYK
- env
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Homo sapiens (human)
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Activated NTRK2 signals through CDK5
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- BDNF
- CDK5
- CDK5R
- CDK5R1
- CDKN5
- NCK5A
- NTRK2
- PSSALRE
- RAC1
- TC25
- TIAM1
- TRKB
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Homo sapiens (human)
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MECP2 regulates transcription of neuronal ligands
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- BDNF
- CRH
- DLL1
- HDAC1
- RPD3L1
- SIN3A
- SST
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Homo sapiens (human)
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NTRK2 activates RAC1
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- BDNF
- DOCK3
- KIAA0299
- MOCA
- NTRK2
- RAC1
- TC25
- TRKB
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Homo sapiens (human)
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Activated NTRK2 signals through FRS2 and FRS3
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- BDNF
- FRS2
- FRS3
- HRAS
- HRAS1
- NRAS
- NTF4
- NTF5
- NTRK2
- PTP2C
- PTPN11
- SHPTP2
- SOS1
- TRKB
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Homo sapiens (human)
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Activated NTRK2 signals through PI3K
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- BDNF
- GAB1
- GRB1
- NTF4
- NTF5
- NTRK2
- PIK3CA
- PIK3R1
- TRKB
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Homo sapiens (human)
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Activated NTRK2 signals through FYN
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- BDNF
- GRIN2B
- NMDAR2B
- NTRK2
- SRC
- SRC1
- TRKB
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Homo sapiens (human)
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