|
Defective ABCC9 causes CMD10, ATFB12 and Cantu syndrome
|
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|
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|
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Sphingolipid catabolism
|
|
|
- ACER1
- ACER2
- ACER3
- ALDH3B1
- ALDH3B2
- ALDH7
- ALDH8
- APHC
- ASAH3
- ASAH3L
- KIAA1252
- LPP1
- LPP2
- LPP3
- PHCA
- PLPP1
- PLPP2
- PLPP3
- PPAP2A
- PPAP2B
- PPAP2C
- SGPL1
- SGPP1
- SGPP2
- SPP1
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SUMOylation of transcription factors
|
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|
- BHLHE32
- CDKN2
- CDKN2A
- DDXBP1
- FOXL2
- HIC1
- MDM2
- MITF
- MLM
- MTA1
- P53
- PIAS1
- PIAS3
- PIAS4
- PIASG
- SMT3A
- SMT3B
- SMT3C
- SMT3H1
- SMT3H2
- SMT3H3
- SP3
- SUMO1
- SUMO2
- SUMO3
- TFAP2B
- TFAP2C
- TP53
- TP53BP1
- UBC9
- UBCE9
- UBE2I
- UBL1
- ZBTB29
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Activation of RAC1 downstream of NMDARs
|
|
|
- CALM
- CALM1
- CAM
- CAM1
- CAMK1
- CAMKK1
- CAMKK2
- CAMKKA
- CAMKKB
- GIT1
- KIAA0787
- RAC1
- TC25
|
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Defective AHCY causes HMAHCHD
|
|
|
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Vitamin B2 (riboflavin) metabolism
|
|
|
- ACP5
- C20orf54
- ENPP1
- FLAD1
- GPR172A
- GPR172B
- M6S1
- NPPS
- PAR1
- PAR2
- PC1
- PDNP1
- RFK
- RFT1
- RFT2
- RFT3
- RFVT3
- SLC52A1
- SLC52A2
- SLC52A3
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Protein repair
|
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- CBS-1
- MSRA
- MSRB
- MSRB1
- MSRB2
- MSRB3
- PCMT1
- SEPX1
- TRDX
- TRX
- TRX1
- TXN
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Defective SLC6A3 causes Parkinsonism-dystonia infantile (PKDYS)
|
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Defective Intrinsic Pathway for Apoptosis Due to p14ARF Loss of Function
|
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- C1QBP
- CDKN2
- CDKN2A
- GC1QBP
- HABP1
- MLM
- SF2P32
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gilteritinib-resistant FLT3 mutants
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Synthesis And Processing Of GAG, GAGPOL Polyproteins
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Estrogen-dependent nuclear events downstream of ESR-membrane signaling
|
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|
- AKT1
- AKT2
- AKT3
- AREG
- AREGB
- BCL1
- BCL2
- BTC
- CCND1
- CDKN1B
- CRM1
- DTR
- DTS
- EGF
- EGFR
- ELK1
- EPGN
- ERBB
- ERBB1
- EREG
- ERK1
- ERK2
- FAK
- FAK1
- FKHRL1
- FOS
- FOXO3
- FOXO3A
- G0S7
- HBEGF
- HEGFL
- HER1
- KIP1
- KIS
- KIST
- MAPK1
- MAPK3
- PKB
- PKBG
- PRAD1
- PRKM1
- PRKM2
- PRKM3
- PTK2
- RAC
- SDGF
- SRF
- TGFA
- UHMK1
- XPO1
- p27
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Collagen biosynthesis and modifying enzymes
|
|
|
- ADAMTS14
- ADAMTS2
- ADAMTS3
- BMP1
- BP180
- BPAG2
- C1orf17
- C3orf7
- CASP
- CBP1
- CBP2
- COL10A1
- COL11A1
- COL11A2
- COL12A1
- COL12A1L
- COL13A1
- COL14A1
- COL15A1
- COL16A1
- COL17A1
- COL18A1
- COL19A1
- COL1A1
- COL1A2
- COL1AL
- COL20A1
- COL21A1
- COL22A1
- COL23A1
- COL24A1
- COL25A1
- COL26A1
- COL27A1
- COL28
- COL28A1
- COL29A1
- COL2A1
- COL3A1
- COL4A1
- COL4A2
- COL4A3
- COL4A4
- COL4A5
- COL4A6
- COL5A1
- COL5A2
- COL5A3
- COL6A1
- COL6A2
- COL6A3
- COL6A5
- COL6A6
- COL7A1
- COL8A1
- COL8A2
- COL9A1
- COL9A2
- COL9A3
- COLGALT1
- COLGALT2
- COLL6
- CRTAP
- CYPB
- EMID2
- EMU2
- ERBA2L
- GLT25D1
- GLT25D2
- GROS1
- HSP47
- KIAA0366
- KIAA0584
- KIAA0932
- KIAA1510
- KIAA1870
- LEPRE1
- LEPREL1
- LEPREL2
- LLH
- MLAT4
- P3H1
- P3H2
- P3H3
- P4HA
- P4HA1
- P4HA2
- P4HA3
- P4HB
- PCINP
- PCOLC
- PCOLCE
- PCOLCE2
- PCPE1
- PCPE2
- PCPNI
- PDI
- PDIA1
- PLOD
- PLOD1
- PLOD2
- PLOD3
- PO4DB
- PPIB
- SERPINH1
- SERPINH2
- TLL
- TLL1
- TLL2
- UND
- VWA4
|
|
|
Synthesis of PIPs at the ER membrane
|
|
|
- KIAA0851
- KIAA1073
- MTMR2
- MTMR5
- PI4K2B
- PI4KA
- PIK4
- PIK4CA
- SAC1
- SACM1L
- SBF1
|
|
|
Formation of TC-NER Pre-Incision Complex
|
- CDK-activating kinase assembly factor MAT1
- COP9 signalosome complex subunit 1
- COP9 signalosome complex subunit 2
- COP9 signalosome complex subunit 3
- COP9 signalosome complex subunit 4
- COP9 signalosome complex subunit 5
- COP9 signalosome complex subunit 6
- COP9 signalosome complex subunit 7a
- COP9 signalosome complex subunit 7b
- COP9 signalosome complex subunit 8
- Cullin-4A
- Cullin-4B
- Cyclin-H
- Cyclin-dependent kinase 7
- DNA damage-binding protein 1
- DNA excision repair protein ERCC-6
- DNA excision repair protein ERCC-8
- DNA repair protein complementing XP-A cells
- DNA-directed RNA polymerase II subunit RPB11-a
- DNA-directed RNA polymerase II subunit RPB1
- DNA-directed RNA polymerase II subunit RPB2
- DNA-directed RNA polymerase II subunit RPB3
- DNA-directed RNA polymerase II subunit RPB4
- DNA-directed RNA polymerase II subunit RPB7
- DNA-directed RNA polymerase II subunit RPB9
- DNA-directed RNA polymerases I, II, and III subunit RPABC1
- DNA-directed RNA polymerases I, II, and III subunit RPABC2
- DNA-directed RNA polymerases I, II, and III subunit RPABC3
- DNA-directed RNA polymerases I, II, and III subunit RPABC4
- DNA-directed RNA polymerases I, II, and III subunit RPABC5
- E3 ubiquitin-protein ligase RBX1
- General transcription and DNA repair factor IIH helicase subunit XPD
- General transcription and DNA repair factor IIH helicase/translocase subunit XPB
- General transcription factor IIH subunit 1
- General transcription factor IIH subunit 2
- General transcription factor IIH subunit 3
- General transcription factor IIH subunit 4
- General transcription factor IIH subunit 5
- Peptidyl-prolyl cis-trans isomerase E
- Polyubiquitin-B
- Polyubiquitin-C
- Pre-mRNA-processing factor 19
- Pre-mRNA-splicing factor ISY1 homolog
- Pre-mRNA-splicing factor SYF1
- RNA helicase aquarius
- Transcription elongation factor A protein 1
- UV-stimulated scaffold protein A
- Ubiquitin carboxyl-terminal hydrolase 7
- Ubiquitin-ribosomal protein eL40 fusion protein
- Ubiquitin-ribosomal protein eS31 fusion protein
- Zinc finger protein 830
|
|
- AQR
- BTF2
- BTF2P44
- C6orf175
- CAK
- CAK1
- CAP35
- CCDC16
- CCNH
- CDK7
- CDKN7
- CKN1
- COPS1
- COPS2
- COPS3
- COPS4
- COPS5
- COPS6
- COPS7A
- COPS7B
- COPS8
- CSA
- CSB
- CSN1
- CSN2
- CSN3
- CSN4
- CSN5
- CSN6
- CSN7A
- CSN7B
- CSN8
- CUL4A
- CUL4B
- CYP33
- DDB1
- DERP10
- ERCC2
- ERCC3
- ERCC6
- ERCC8
- GPS1
- GTF2H1
- GTF2H2
- GTF2H3
- GTF2H4
- GTF2H5
- GTF2S
- HAUSP
- HCNP
- HVIP
- ISY1
- JAB1
- KIAA0560
- KIAA0695
- KIAA1160
- KIAA1177
- KIAA1530
- MAT1
- MNAT1
- MO15
- NMP200
- POLR2
- POLR2A
- POLR2B
- POLR2C
- POLR2D
- POLR2E
- POLR2F
- POLR2G
- POLR2H
- POLR2I
- POLR2J
- POLR2J1
- POLR2K
- POLR2L
- POLRF
- PPIE
- PRP19
- PRPF19
- RBX1
- RNF66
- RNF75
- ROC1
- RPB7
- RPS27A
- SNEV
- STK1
- SYF1
- TCEA1
- TFIIS
- TRIP15
- TTDA
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- USP7
- UVSSA
- XAB2
- XAP1
- XPA
- XPAC
- XPB
- XPBC
- XPD
- XPDC
- ZNF830
|
|
|
RNA Polymerase II Transcription Initiation
|
- CDK-activating kinase assembly factor MAT1
- Cyclin-H
- Cyclin-dependent kinase 7
- DNA-directed RNA polymerase II subunit RPB11-a
- DNA-directed RNA polymerase II subunit RPB1
- DNA-directed RNA polymerase II subunit RPB2
- DNA-directed RNA polymerase II subunit RPB3
- DNA-directed RNA polymerase II subunit RPB4
- DNA-directed RNA polymerase II subunit RPB7
- DNA-directed RNA polymerase II subunit RPB9
- DNA-directed RNA polymerases I, II, and III subunit RPABC1
- DNA-directed RNA polymerases I, II, and III subunit RPABC2
- DNA-directed RNA polymerases I, II, and III subunit RPABC3
- DNA-directed RNA polymerases I, II, and III subunit RPABC4
- DNA-directed RNA polymerases I, II, and III subunit RPABC5
- General transcription and DNA repair factor IIH helicase subunit XPD
- General transcription and DNA repair factor IIH helicase/translocase subunit XPB
- General transcription factor IIE subunit 1
- General transcription factor IIF subunit 1
- General transcription factor IIF subunit 2
- General transcription factor IIH subunit 1
- General transcription factor IIH subunit 2
- General transcription factor IIH subunit 3
- General transcription factor IIH subunit 4
- General transcription factor IIH subunit 5
- TATA-binding protein-associated factor 2N
- TATA-box-binding protein
- Transcription initiation factor IIA subunit 1
- Transcription initiation factor IIA subunit 2
- Transcription initiation factor IIB
- Transcription initiation factor IIE subunit beta
- Transcription initiation factor TFIID subunit 1-like
- Transcription initiation factor TFIID subunit 10
- Transcription initiation factor TFIID subunit 11
- Transcription initiation factor TFIID subunit 12
- Transcription initiation factor TFIID subunit 13
- Transcription initiation factor TFIID subunit 1
- Transcription initiation factor TFIID subunit 2
- Transcription initiation factor TFIID subunit 3
- Transcription initiation factor TFIID subunit 4
- Transcription initiation factor TFIID subunit 4B
- Transcription initiation factor TFIID subunit 5
- Transcription initiation factor TFIID subunit 6
- Transcription initiation factor TFIID subunit 7-like
- Transcription initiation factor TFIID subunit 7
- Transcription initiation factor TFIID subunit 9
- Transcription initiation factor TFIID subunit 9B
|
|
- BA2R
- BTF2
- BTF2P44
- C6orf175
- CAK
- CAK1
- CAP35
- CCG1
- CCGS
- CCNH
- CDK7
- CDKN7
- CIF150
- ERCC2
- ERCC3
- GTF2A1
- GTF2A2
- GTF2B
- GTF2D1
- GTF2E1
- GTF2E2
- GTF2F1
- GTF2F2
- GTF2H1
- GTF2H2
- GTF2H3
- GTF2H4
- GTF2H5
- MAT1
- MNAT1
- MO15
- POLR2
- POLR2A
- POLR2B
- POLR2C
- POLR2D
- POLR2E
- POLR2F
- POLR2G
- POLR2H
- POLR2I
- POLR2J
- POLR2J1
- POLR2K
- POLR2L
- POLRF
- RAP30
- RAP74
- RBP56
- RNF66
- RPB7
- STK1
- TAF1
- TAF10
- TAF11
- TAF12
- TAF13
- TAF15
- TAF1L
- TAF2
- TAF2A
- TAF2B
- TAF2C
- TAF2C1
- TAF2C2
- TAF2D
- TAF2E
- TAF2F
- TAF2G
- TAF2H
- TAF2I
- TAF2J
- TAF2K
- TAF2N
- TAF2Q
- TAF3
- TAF4
- TAF4A
- TAF4B
- TAF5
- TAF6
- TAF7
- TAF7L
- TAF9
- TAF9B
- TAF9L
- TAFII105
- TAFII130
- TAFII135
- TAFII18
- TAFII20
- TAFII30
- TAFII31
- TAFII55
- TAFII70
- TBP
- TF2A1
- TF2A2
- TF2B
- TF2D
- TF2E1
- TF2E2
- TFIIB
- TFIID
- TTDA
- XPB
- XPBC
- XPD
- XPDC
|
|
|
Regulation of MITF-M-dependent genes involved in pigmentation
|
|
|
- ACTB
- ACTL6A
- AKT2
- AP2TF
- ARID1A
- ARID1B
- BAF155
- BAF170
- BAF190A
- BAF190B
- BAF250
- BAF250A
- BAF250B
- BAF45B
- BAF45C
- BAF45D
- BAF47
- BAF53
- BAF53A
- BAF57
- BAF60A
- BAF60B
- BAF60C
- BCL7A
- BCL7B
- BCL7C
- BHLHB11
- BRG1
- BRM
- C1orf4
- CAS2
- CERD4
- CREST
- CSBP
- CSBP1
- CSBP2
- CSPB1
- CTNNB
- CTNNB1
- D12S53E
- DAN15
- DCT
- DPF1
- DPF2
- DPF3
- GPR143
- INI1
- INO80K
- IRF4
- KIAA0693
- KIAA1235
- KIAA1597
- LEF1
- MAPK14
- MART1
- MLANA
- MLPH
- MUM1
- MXI2
- MYH12
- MYO5A
- MYRIP
- NEUD4
- OA1
- OSA1
- OSA2
- PMEL
- PMEL17
- RAB27
- RAB27A
- REQ
- SAPK2A
- SGA72M
- SILV
- SLAC2A
- SLAC2C
- SLP2
- SLP2A
- SMARCA2
- SMARCA4
- SMARCB1
- SMARCC1
- SMARCC2
- SMARCD1
- SMARCD2
- SMARCD3
- SMARCE1
- SMARCF1
- SNF2A
- SNF2B
- SNF2L2
- SNF2L4
- SNF5L1
- SOX10
- SS18
- SS18L1
- SSXT
- SYT
- SYTL2
- TFAP2
- TFAP2A
- TYR
- TYRP
- TYRP1
- TYRP2
- TYRRP
- UBID4
- USF
- USF1
|
|
|
Metabolism of ingested SeMet, Sec, MeSec into H2Se
|
|
|
- AHCY
- AMS1
- CBS
- CTH
- GNMT
- HNMT
- MAT1A
- MATA1
- NNMT
- SAHH
- SCL
- SCLY
|
|
|
Translocation of ZAP-70 to Immunological synapse
|
- HLA class II histocompatibility antigen, DP alpha 1 chain
- HLA class II histocompatibility antigen, DP beta 1 chain
- HLA class II histocompatibility antigen, DQ alpha 1 chain
- HLA class II histocompatibility antigen, DQ alpha 2 chain
- HLA class II histocompatibility antigen, DQ beta 1 chain
- HLA class II histocompatibility antigen, DQ beta 2 chain
- HLA class II histocompatibility antigen, DR alpha chain
- HLA class II histocompatibility antigen, DR beta 3 chain
- HLA class II histocompatibility antigen, DR beta 4 chain
- HLA class II histocompatibility antigen, DR beta 5 chain
- HLA class II histocompatibility antigen, DRB1 beta chain
- T cell receptor alpha chain constant
- T cell receptor alpha variable 19
- T cell receptor alpha variable 29/delta variable 5
- T cell receptor alpha variable 8-4
- T cell receptor beta constant 1
- T cell receptor beta variable 12-3
- T cell receptor beta variable 7-9
- T-cell surface glycoprotein CD3 delta chain
- T-cell surface glycoprotein CD3 epsilon chain
- T-cell surface glycoprotein CD3 gamma chain
- T-cell surface glycoprotein CD4
- Tyrosine-protein kinase Lck
- Tyrosine-protein kinase ZAP-70
- Tyrosine-protein phosphatase non-receptor type 22
|
|
- CD3D
- CD3E
- CD3G
- CD4
- HLA-DP1A
- HLA-DP1B
- HLA-DPA1
- HLA-DPB1
- HLA-DQA1
- HLA-DQA2
- HLA-DQB
- HLA-DQB1
- HLA-DQB2
- HLA-DRA
- HLA-DRA1
- HLA-DRB1
- HLA-DRB3
- HLA-DRB4
- HLA-DRB5
- HLA-DXA
- HLA-DXB
- HLASB
- LCK
- PTPN22
- PTPN8
- SRK
- T3D
- T3E
- T3G
- TCRA
- TCRBV12S3
- TCRBV8S1
- TRAC
- TRAV19
- TRAV29DV5
- TRAV8-4
- TRBC1
- TRBV12-3
- TRBV7-9
- ZAP70
|
|
|
RAS signaling downstream of NF1 loss-of-function variants
|
|
|
- EVE-3
- HRAS
- HRAS1
- NF1
- NRAS
- SPRED1
- SPRED2
- SPRED3
|
|
|
AUF1 (hnRNP D0) binds and destabilizes mRNA
|
|
|
- ADRM1
- C7orf76
- DSS1
- EIF4F
- EIF4G
- EIF4G1
- EIF4GI
- GP110
- HC2
- HC3
- HC8
- HC9
- HSC70
- HSP27
- HSP28
- HSP72
- HSP73
- HSPA1
- HSPA10
- HSPA1A
- HSPA8
- HSPB1
- HSPC
- HSX70
- KIAA0107
- LMPX
- LMPY
- MB1
- MIP224
- MOV34L
- MSS1
- NU
- PAB1
- PABP
- PABP1
- PABPC1
- PABPC2
- PFAAP4
- POH1
- PROS26
- PROS27
- PROS30
- PSC2
- PSC3
- PSC5
- PSC8
- PSC9
- PSMA1
- PSMA2
- PSMA3
- PSMA4
- PSMA5
- PSMA6
- PSMA7
- PSMB1
- PSMB2
- PSMB3
- PSMB4
- PSMB5
- PSMB6
- PSMB7
- PSMC1
- PSMC2
- PSMC3
- PSMC4
- PSMC5
- PSMC6
- PSMD1
- PSMD11
- PSMD12
- PSMD13
- PSMD14
- PSMD2
- PSMD3
- PSMD6
- PSMD7
- PSMD8
- RPS27A
- SEM1
- SHFDG1
- SHFM1
- SUG1
- SUG2
- TBP1
- TBP7
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Z
|
|
|
Signalling to p38 via RIT and RIN
|
|
|
- BRAF
- BRAF1
- MTC
- NGF
- NGFB
- NTRK1
- RAFB1
- RIBB
- RIN
- RIT
- RIT1
- RIT2
- ROC1
- ROC2
- TRK
- TRKA
|
|
|
CTNNB1 S37 mutants aren't phosphorylated
|
|
|
- AMER1
- APC
- AXIN
- AXIN1
- CSNK1A1
- CTNNB
- CTNNB1
- DP2.5
- FAM123B
- GSK3B
- KIAA0044
- PPP2CA
- PPP2CB
- PPP2R1A
- PPP2R1B
- PPP2R5A
- PPP2R5B
- PPP2R5C
- PPP2R5D
- PPP2R5E
- WTX
|
|
|
Chylomicron remodeling
|
|
|
- APC2
- APOA1
- APOA2
- APOA4
- APOA5
- APOB
- APOC2
- APOC3
- APOE
- GPIHBP1
- HBP1
- LIPD
- LPL
- RAP3
|
|
|
Maturation of protein E
|
|
|
- E
- RPS27A
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
|
|