|
Defective GCK causes maturity-onset diabetes of the young 2 (MODY2)
|
|
|
|
|
|
FGFR4 ligand binding and activation
|
|
|
- FGF1
- FGF16
- FGF18
- FGF19
- FGF2
- FGF20
- FGF23
- FGF4
- FGF6
- FGF9
- FGFA
- FGFB
- FGFR4
- HST
- HST2
- HSTF1
- HSTF2
- HYPF
- JTK2
- KS3
- TKF
|
|
|
POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
|
|
|
- NANOG
- OCT3
- OCT4
- OTF3
- POU5F1
- SOX2
|
|
|
Phenylalanine metabolism
|
|
|
- ALP
- ASRGL1
- CCBL1
- CRASH
- DCOH
- DHPR
- FIG1
- IL4I1
- KYAT1
- PAH
- PCBD
- PCBD1
- QDPR
- SDR33C1
|
|
|
TGF-beta receptor signaling activates SMADs
|
|
|
- ALK5
- C14orf141
- CBL
- CBL2
- DPC4
- FKBP1
- FKBP12
- FKBP1A
- FNRB
- FUR
- FURIN
- GP3A
- ITGA8
- ITGAV
- ITGB1
- ITGB3
- ITGB5
- ITGB6
- ITGB8
- LTBP1
- LTBP2
- LTBP3
- LTBP4
- MADH2
- MADH3
- MADH4
- MADR2
- MDF2
- MSK12
- MSK8
- NEDD8
- PACE
- PCSK3
- RNF55
- SKR4
- SMAD2
- SMAD3
- SMAD4
- TGFB
- TGFB1
- TGFB2
- TGFB3
- TGFBR1
- TGFBR2
- TGFBR3
- UBC12
- UBE2M
- VNRA
- VTNR
|
|
|
Maturation of nucleoprotein
|
|
|
- ADPRTL1
- ARTD15
- BAL
- BAL1
- BAL2
- C15orf30
- CSNK1A1
- GSK3A
- GSK3B
- HMT2
- HRMT1L2
- IR1B4
- KIAA0177
- KIAA1268
- N
- PARP10
- PARP14
- PARP16
- PARP4
- PARP6
- PARP8
- PARP9
- PARPL
- PRMT1
- SMT3C
- SMT3H3
- SRPK1
- SRPK2
- SUMO1
- UBC9
- UBCE9
- UBE2I
- UBL1
|
|
|
Negative regulation of TCF-dependent signaling by DVL-interacting proteins
|
|
|
- CCDC88C
- CXXC4
- DAPLE
- DVL1
- DVL2
- DVL3
- IDAX
- KIAA0208
- KIAA1509
|
|
|
FOXO-mediated transcription of cell cycle genes
|
|
|
- AFX
- AFX1
- BTG1
- CAP20
- CAV
- CAV1
- CCNG2
- CDKN1
- CDKN1A
- CDKN1B
- CIP1
- DDIT1
- DPC4
- EZF
- FKH2
- FKHL1
- FKHL2
- FKHL3
- FKHL4
- FKHR
- FKHRL1
- FOXG1
- FOXG1A
- FOXG1B
- FOXG1C
- FOXO1
- FOXO1A
- FOXO3
- FOXO3A
- FOXO4
- GADD45
- GADD45A
- GDF8
- GKLF
- KIP1
- KLF4
- MADH2
- MADH3
- MADH4
- MADR2
- MDA6
- MLLT7
- MSTN
- PCBP4
- PIC1
- RB2
- RBL2
- SDI1
- SMAD2
- SMAD3
- SMAD4
- WAF1
- p27
|
|
|
Defective SLC33A1 causes spastic paraplegia 42 (SPG42)
|
|
|
|
|
|
APC/C:Cdc20 mediated degradation of mitotic proteins
|
|
|
- ANAPC1
- ANAPC10
- ANAPC11
- ANAPC12
- ANAPC15
- ANAPC16
- ANAPC2
- ANAPC3
- ANAPC4
- ANAPC5
- ANAPC6
- ANAPC7
- ANAPC8
- APC10
- APC2
- APC4
- APC5
- APC7
- BUB1B
- BUB3
- BUBR1
- C10orf104
- C11orf51
- C9orf17
- CDC16
- CDC20
- CDC23
- CDC26
- CDC27
- CENP-27
- D0S1430E
- D17S978E
- E2EPF
- KIAA1406
- MAD2
- MAD2L1
- MAD3L
- SFT
- SSK1
- TSG24
- UBC5A
- UBCH10
- UBCH5
- UBCH5A
- UBCH6
- UBE2C
- UBE2D1
- UBE2E1
- UBE2S
|
|
|
PKA activation in glucagon signalling
|
|
|
- ADCY1
- ADCY2
- ADCY3
- ADCY4
- ADCY5
- ADCY6
- ADCY7
- ADCY8
- ADCY9
- GNAS
- GNAS1
- GSP
- KIAA0037
- KIAA0422
- KIAA0511
- KIAA0520
- KIAA1060
- PKACA
- PKR1
- PKR2
- PRKACA
- PRKACB
- PRKACG
- PRKAR1
- PRKAR1A
- PRKAR1B
- PRKAR2
- PRKAR2A
- PRKAR2B
- TSE1
|
|
|
Integrin cell surface interactions
|
|
|
- AGRIN
- AGRN
- BNSP
- BSG
- C21orf43
- CD11A
- CD11B
- CD11C
- CD18
- CD44
- CD47
- CD49B
- CD49D
- CDH1
- CDHE
- COL13A1
- COL16A1
- COL18A1
- COL23A1
- COL4A1
- COL4A2
- COL4A3
- COL4A4
- COL9A1
- COL9A2
- COL9A3
- COMP
- CR3A
- F11R
- FBN
- FBN1
- FGA
- FGB
- FGG
- FLK1
- FN
- FN1
- FNRA
- FNRB
- GP2B
- GP3A
- HSPG2
- HXB
- IBSP
- ICAM1
- ICAM2
- ICAM3
- ICAM4
- ICAM5
- ITGA1
- ITGA10
- ITGA11
- ITGA2
- ITGA2B
- ITGA3
- ITGA4
- ITGA5
- ITGA6
- ITGA7
- ITGA8
- ITGA9
- ITGAB
- ITGAD
- ITGAE
- ITGAL
- ITGAM
- ITGAV
- ITGAX
- ITGB1
- ITGB2
- ITGB3
- ITGB5
- ITGB6
- ITGB7
- ITGB8
- JAM1
- JAM2
- JAM3
- JCAM
- KDR
- LDC
- LHR
- LUM
- LW
- MDF2
- MDU2
- MDU3
- MER6
- MFI7
- MIC4
- MSK12
- MSK18
- MSK8
- OPN
- PECAM1
- SLRR2D
- SPP1
- THBS1
- TLCN
- TLN
- TNC
- TSP
- TSP1
- UVO
- VCAM1
- VEGFR2
- VEJAM
- VNRA
- VTN
- VTNR
|
|
|
Formation of selenosugars for excretion
|
|
|
|
|
|
TRAF6 mediated induction of NFkB and MAP kinases upon TLR7/8 or 9 activation
|
|
|
- ECSIT
- IRAK
- IRAK1
- IRAK2
- IRAK4
- MAP3K1
- MAPKKK1
- MEKK
- MEKK1
- MYD88
- RNF85
- TLR7
- TLR9
- TRAF6
|
|
|
GSD 0 (muscle)
|
|
|
|
|
|
SARS-CoV-2 activates/modulates innate and adaptive immune responses
|
|
|
- 3a
- 6
- 7a
- 8
- 9b
- AAAS
- ADRACALA
- ATG14
- ATG14L
- B2M
- BECN1
- BLU
- C1orf7
- C7orf14
- CAIN
- CAN
- CAP-1
- CARD15
- CARD4
- CARDIAK
- CBP
- CG1
- CHUK
- CIAS1
- CNBP
- COLEC1
- COLEC7
- CRAF1
- CRARF
- CRARF1
- CREBBP
- CROC1
- CTLA8
- D3S1231E
- DAK
- DDX58
- E
- EFP
- ERIS
- FIP3
- G1P2
- G3BP
- G3BP1
- G3BP2
- GT197
- HCP
- HLA-5.4
- HLA-6.0
- HLA-6.2
- HLA-A
- HLA-B
- HLA-C
- HLA-E
- HLA-F
- HLA-G
- HLA-H
- HLAA
- HLAB
- HLAC
- HLAE
- HLAF
- HLAG
- HLAH
- HSP90A
- HSP90AA1
- HSP90AB1
- HSP90B
- HSPC1
- HSPC2
- HSPC3
- HSPCA
- HSPCB
- IFB
- IFIH1
- IFNA1
- IFNA10
- IFNA13
- IFNA14
- IFNA16
- IFNA17
- IFNA2
- IFNA21
- IFNA2A
- IFNA2B
- IFNA2C
- IFNA4
- IFNA5
- IFNA6
- IFNA7
- IFNA8
- IFNAR
- IFNAR1
- IFNB
- IFNB1
- IKBKB
- IKBKE
- IKBKG
- IKKA
- IKKB
- IKKE
- IKKI
- IL17
- IL17A
- IL17F
- IL17R
- IL17RA
- IL17RC
- IPS1
- IRAK
- IRAK1
- IRAK2
- IRF3
- IRF7
- ISG15
- JAK1
- JAK1A
- JAK1B
- KIAA0012
- KIAA0023
- KIAA0079
- KIAA0095
- KIAA0151
- KIAA0169
- KIAA0197
- KIAA0225
- KIAA0618
- KIAA0660
- KIAA0719
- KIAA0731
- KIAA0733
- KIAA0755
- KIAA0791
- KIAA0831
- KIAA0906
- KIAA1271
- KPNA2
- LARP
- LARP1
- M
- MAP3K7
- MAP3K7IP1
- MAP3K7IP2
- MAP3K7IP3
- MASP1
- MAVS
- MBL
- MBL2
- MDA5
- MITA
- MP44
- MRNP41
- N
- NAK
- NALP12
- NALP3
- NDC1
- NEMO
- NLRP12
- NLRP3
- NOD1
- NOD2
- 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
- PIK3C3
- PIK3R4
- POM121
- POM121A
- POM121C
- PRSS5
- PSPD
- PTP1C
- PTP2C
- PTPN11
- PTPN6
- PYPAF1
- PYPAF7
- RAE1
- RANBP2
- RCH1
- RH116
- RICK
- RIGI
- RIP2
- RIPK2
- RNF135
- RNF147
- RNF163
- RNF85
- RNF87
- RNO
- S
- SAR1B
- SARA2
- SARB
- SEC13
- SEC13A
- SEC13L1
- SEC13R
- SEC23A
- SEC24A
- SEC24B
- SEC24C
- SEC24D
- SFTP4
- SFTPD
- SHPTP2
- SIKE
- SIKE1
- SRP1
- STAT1
- STAT2
- STING
- STING1
- TAB1
- TAB2
- TAB3
- TAK1
- TBK1
- TCF16
- TIL4
- TKFC
- TLR1
- TLR2
- TLR7
- TLR8
- TMEM173
- TMEM48
- TOM70
- TOMM70
- TOMM70A
- TPR
- TRAF3
- TRAF6
- TRAFAMN
- TRIM25
- TRIM4
- TYK2
- UBE2N
- UBE2V
- UBE2V1
- UCRP
- UEV1
- VISA
- VPS15
- VPS34
- ZNF147
- ZNF9
- rep
|
|
|
Defective ALG6 causes CDG-1c
|
|
|
|
|
|
Toxicity of botulinum toxin type B (botB)
|
|
|
- HA
- HA-17
- HA-33
- SVP65
- SYB2
- SYT
- SYT1
- SYT2
- VAMP2
- botB
- ha17
- ha34
- ha70
- ntnha
|
|
|
Ras activation upon Ca2+ influx through NMDA receptor
|
|
|
- ACTN2
- CALM
- CALM1
- CAM
- CAM1
- CAM2
- CAMK
- CAMK-II
- CAMK2
- CAMK2A
- CAMK2B
- CAMK2D
- CAMK2G
- CAMKA
- CAMKB
- CAMKD
- CAMKG
- CDC25
- DLG1
- DLG2
- DLG3
- DLG4
- GNRP
- GRF1
- GRF2
- GRIN1
- GRIN2B
- GRIN2D
- GluN2D
- HRAS
- HRAS1
- KIAA0968
- KIAA1232
- KIAA1365
- LAP1
- LRRC7
- NEFL
- NF68
- NFL
- NMDAR1
- NMDAR2B
- NMDAR2D
- NRAS
- PSD95
- RASGRF1
- RASGRF2
|
|
|
Clathrin-mediated endocytosis
|
|
|
- AAK1
- ABCC7
- ACTR2
- ACTR3
- ADHR
- ADRB2
- ADRB2R
- ADTAA
- ADTAB
- ADTB2
- AF1P
- AGFG1
- AGTR1
- AGTR1A
- AGTR1B
- AMPH
- AMPH1
- AMPHL
- AP17
- AP2A1
- AP2A2
- AP2B1
- AP2M1
- AP2S1
- APOB
- ARB2
- ARC16
- ARC20
- ARC21
- ARC34
- AREG
- AREGB
- ARF1GAP
- ARF6
- ARFGAP1
- ARH
- ARP2
- ARP3
- ARPC1A
- ARPC2
- ARPC3
- ARPC4
- ARPC5
- ARR1
- ARR2
- ARRB1
- ARRB2
- ARVP
- AT2R1
- AT2R1B
- AVP
- AVPR2
- B2AR
- BIN1
- BTC
- C1orf39
- CALM
- CBL
- CBL2
- CD36L2
- CD3D
- CD3G
- CD4
- CFTR
- CHRM2
- CIN85
- CIP4
- CLAPA1
- CLAPA2
- CLAPB1
- CLAPM1
- CLAPS2
- CLH17
- CLH22
- CLTA
- CLTB
- CLTC
- CLTCL
- CLTCL1
- CLTCL2
- CLTD
- CNSA1
- CNSA2
- CNSA3
- CTTN
- DAB2
- DIR
- DIR3
- DNAJC26
- DNAJC6
- DNM
- DNM1
- DNM2
- DNM3
- DOC2
- DTR
- DTS
- DVL2
- DYN2
- EGF
- EGFR
- EMS1
- EPGN
- EPN1
- EPN2
- EPS15
- EPS15L1
- EPS15R
- ERBB
- ERBB1
- EREG
- FBP17
- FCHO1
- FCHO2
- FNBP1
- FNBP1L
- FZD4
- GAK
- GAPEX5
- GAPVD1
- GLUT8
- GLUTX1
- HBEGF
- HBP
- HEGFL
- HER1
- HGS
- HIP1
- HIP12
- HIP1R
- HIP9
- HRB
- HRS
- HSC70
- HSP73
- HSPA10
- HSPA8
- HYPJ
- IGF2R
- IL7R
- ITSN
- ITSN1
- ITSN2
- KIAA0034
- KIAA0080
- KIAA0109
- KIAA0290
- KIAA0319
- KIAA0348
- KIAA0473
- KIAA0554
- KIAA0589
- KIAA0655
- KIAA0656
- KIAA0820
- KIAA0899
- KIAA0910
- KIAA1048
- KIAA1065
- KIAA1256
- KIAA1379
- KIAA1521
- LDLR
- LDLRAP1
- LIMP2
- LIMPII
- LRP2
- M6PR
- MPR46
- MPRD
- MPRI
- NECAP1
- NECAP2
- NK1R
- OCRL
- OCRL1
- PACSIN1
- PACSIN2
- PACSIN3
- PICALM
- PIK3C2A
- PIP5K1C
- POB1
- RAB
- RAB5
- RAB5A
- RAB5B
- RAB5C
- RABL
- RAP6
- REPS1
- REPS2
- RIP
- RNF55
- RPS27A
- SALF
- SBLF
- SCARB2
- SDGF
- SGIP1
- SH3D1A
- SH3D1B
- SH3D2A
- SH3D2B
- SH3D2C
- SH3GL1
- SH3GL2
- SH3GL3
- SH3KBP1
- SH3PX1
- SH3PXD3A
- SH3PXD3B
- SLC18A3
- SLC2A8
- SNAP91
- SNX18
- SNX9
- SOP2L
- STAM
- STAM1
- STAM2
- STN1
- STN2
- STNB
- STON1
- STON2
- STOT
- STP
- SVP65
- SWAP
- SYB2
- SYB3
- SYBL1
- SYNJ1
- SYNJ2
- SYT
- SYT1
- SYT11
- SYT2
- SYT8
- SYT9
- T3D
- T3G
- TAC1R
- TACR1
- TF
- TFRC
- TGFA
- TGN46
- TGN51
- TGOLN2
- TOCA1
- TRIP10
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- V2R
- VACHT
- VAMP2
- VAMP3
- VAMP4
- VAMP7
- VAMP8
- VP
- WASL
- WNT5A
|
|
|
Removal of the Flap Intermediate
|
|
|
- DNA2
- DNA2L
- FEN1
- KIAA0039
- KIAA0083
- PCNA
- POLA
- POLA1
- POLA2
- POLD
- POLD1
- POLD2
- POLD3
- POLD4
- POLDS
- PRIM1
- PRIM2
- PRIM2A
- RAD2
- REPA1
- REPA2
- REPA3
- RPA1
- RPA14
- RPA2
- RPA3
- RPA32
- RPA34
- RPA70
|
|
|
Inhibition of replication initiation of damaged DNA by RB1/E2F1
|
|
|
- DP1
- DP2
- E2F1
- POLA
- POLA1
- POLA2
- PPP2CA
- PPP2CB
- PPP2R1A
- PPP2R1B
- PPP2R3B
- PPP2R3L
- PRIM1
- PRIM2
- PRIM2A
- RB1
- RBBP3
- TFDP1
- TFDP2
|
|
|
Defective visual phototransduction due to OPN1LW loss of function
|
|
|
|
|
|
Defective HEXA causes GM2G1
|
|
|
|
|
|
Peroxisomal protein import
|
- 2-Hydroxyacid oxidase 1
- 2-Hydroxyacid oxidase 2
- 2-hydroxyacyl-CoA lyase 1
- 3-ketoacyl-CoA thiolase, peroxisomal
- AN1-type zinc finger protein 6
- Acyl-coenzyme A diphosphatase NUDT19
- Acyl-coenzyme A thioesterase 2, mitochondrial
- Acyl-coenzyme A thioesterase 8
- Alanine--glyoxylate aminotransferase
- Alkyldihydroxyacetonephosphate synthase, peroxisomal
- Alpha-methylacyl-CoA racemase
- Bifunctional epoxide hydrolase 2
- Bile acid-CoA
- Carnitine O-acetyltransferase
- Catalase
- D-amino-acid oxidase
- D-aspartate oxidase
- Dehydrogenase/reductase SDR family member 4
- Delta(3,5)-Delta(2,4)-dienoyl-CoA isomerase, mitochondrial
- Dihydroxyacetone phosphate acyltransferase
- Glutathione S-transferase kappa 1
- Hydroxymethylglutaryl-CoA lyase, mitochondrial
- Insulin-degrading enzyme
- Isocitrate dehydrogenase [NADP] cytoplasmic
- Lon protease homolog 2, peroxisomal
- Long-chain fatty acid transport protein 2
- Nitric oxide synthase, inducible
- Peroxisomal 2,4-dienoyl-CoA reductase [(3E)-enoyl-CoA-producing]
- Peroxisomal ATPase PEX1
- Peroxisomal ATPase PEX6
- Peroxisomal N(1)-acetyl-spermine/spermidine oxidase
- Peroxisomal acyl-coenzyme A oxidase 1
- Peroxisomal acyl-coenzyme A oxidase 2
- Peroxisomal acyl-coenzyme A oxidase 3
- Peroxisomal bifunctional enzyme
- Peroxisomal carnitine O-octanoyltransferase
- Peroxisomal coenzyme A diphosphatase NUDT7
- Peroxisomal leader peptide-processing protease
- Peroxisomal membrane protein PEX13
- Peroxisomal membrane protein PEX14
- Peroxisomal multifunctional enzyme type 2
- Peroxisomal sarcosine oxidase
- Peroxisomal succinyl-coenzyme A thioesterase
- Peroxisomal targeting signal 2 receptor
- Peroxisomal trans-2-enoyl-CoA reductase
- Peroxisome assembly protein 12
- Peroxisome assembly protein 26
- Peroxisome biogenesis factor 10
- Peroxisome biogenesis factor 2
- Phytanoyl-CoA dioxygenase, peroxisomal
- Polyubiquitin-B
- Polyubiquitin-C
- Protein Mpv17
- Sterol carrier protein 2
- Ubiquitin carboxyl-terminal hydrolase 9X
- Ubiquitin-conjugating enzyme E2 D1
- Ubiquitin-conjugating enzyme E2 D2
- Ubiquitin-conjugating enzyme E2 D3
- Ubiquitin-ribosomal protein eL40 fusion protein
- Ubiquitin-ribosomal protein eS31 fusion protein
|
|
- ACAA
- ACAA1
- ACOT2
- ACOT4
- ACOT8
- ACOX
- ACOX1
- ACOX2
- ACOX3
- ACSVL1
- ACTEIII
- AGPS
- AGT1
- AGXT
- AMACR
- AWP1
- BAAT
- BRCOX
- CAT
- CAT1
- COT
- CRAT
- CROT
- DAMOX
- DAO
- DAPAT
- DDO
- DECR2
- DFFRX
- DHAPAT
- DHRS4
- ECH1
- ECHD
- EDH17B4
- EHHADH
- EPHX2
- FACVL1
- FAM
- FATP2
- GNPAT
- GOX1
- GSTK1
- HACL1
- HAO1
- HAO2
- HAOX2
- HMGCL
- HPCL
- HPCL2
- HSD17B4
- IDE
- IDH1
- LONP
- LONP2
- LPIPOX
- MPV17
- NOS2
- NOS2A
- NUDT19
- NUDT7
- PAF1
- PAF3
- PAHX
- PAO
- PAOX
- PDCR
- PECR
- PEX1
- PEX10
- PEX12
- PEX13
- PEX14
- PEX2
- PEX26
- PEX6
- PEX7
- PHYH
- PHYH2
- PICD
- PIPOX
- PMP3
- PMP35
- PRCOX
- PSO
- PTE1
- PTE2
- PTE2A
- PTE2B
- PTEIB
- PTHIO
- PTS2R
- PUBC1
- PXAAA1
- PXMP3
- RNF69
- RNF72
- RPS27A
- SCP2
- SDR17C1
- SDR25C2
- SDR29C1
- SDR8C1
- SFT
- SLC27A2
- SPAT
- TYSND1
- UBA52
- UBA80
- UBB
- UBC
- UBC4
- UBC5A
- UBC5B
- UBC5C
- UBCEP1
- UBCEP2
- UBCH4
- UBCH5
- UBCH5A
- UBCH5B
- UBCH5C
- UBE2D1
- UBE2D2
- UBE2D3
- USP9
- USP9X
- VLACS
- ZA20D3
- ZFAND6
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