Defective CSF2RB causes SMDP5
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- COLEC4
- COLEC5
- COLEC7
- CSF2R
- CSF2RA
- CSF2RB
- CSF2RY
- IL3RB
- IL5RB
- PSAP
- PSPD
- SFTA3
- SFTP1
- SFTP2
- SFTP3
- SFTP4
- SFTPA
- SFTPA1
- SFTPA1B
- SFTPA2
- SFTPA2B
- SFTPB
- SFTPC
- SFTPD
- SFTPH
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Homo sapiens (human)
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Atorvastatin ADME
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- ABCB1
- ABCC2
- CMOAT
- CMOAT1
- CMRP
- CYP3A3
- CYP3A4
- GNT1
- LST1
- LST2
- MDR1
- MRP2
- OATP1B1
- OATP1B3
- OATP2
- OATP8
- OATPC
- PGY1
- PON
- PON1
- PON3
- SLC21A6
- SLC21A8
- SLCO1B1
- SLCO1B3
- UGT1
- UGT1A3
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Homo sapiens (human)
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Defective BTD causes biotidinase deficiency
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Homo sapiens (human)
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Methylation
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- AHCY
- AMS1
- AMS2
- AS3MT
- C21orf127
- COMT
- CYP1A2
- CYT19
- GSTO1
- GSTTLP28
- HEMK2
- KMT9
- MAT1A
- MAT2A
- MAT2B
- MATA1
- MATA2
- MTR
- MTRR
- N6AMT1
- NNMT
- PRED28
- SAHH
- TGR
- TPMT
- TRMT112
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Homo sapiens (human)
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Defective F8 binding to the cell membrane
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Homo sapiens (human)
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Glycosphingolipid biosynthesis
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- 2-hydroxyacylsphingosine 1-beta-galactosyltransferase
- Alpha-2,8-sialyltransferase 8E
- Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 5
- Alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6
- Beta-1,3-galactosyltransferase 4
- Beta-1,4 N-acetylgalactosaminyltransferase 1
- Beta-1,4-galactosyltransferase 5
- Beta-1,4-galactosyltransferase 6
- CMP-N-acetylneuraminate-beta-1,4-galactoside alpha-2,3-sialyltransferase
- CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 2
- Ceramide glucosyltransferase
- Ceramide kinase
- Galactoside alpha-(1,2)-fucosyltransferase 1
- Galactoside alpha-(1,2)-fucosyltransferase 2
- Galactosylceramide sulfotransferase
- Lactosylceramide 1,3-N-acetyl-beta-D-glucosaminyltransferase
- Lactosylceramide 4-alpha-galactosyltransferase
- Lactosylceramide alpha-2,3-sialyltransferase
- UDP-GalNAc
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- A14GALT
- A4GALT
- A4GALT1
- B3GALNT1
- B3GALT3
- B3GALT4
- B3GNT5
- B4GALNT1
- B4GALT5
- B4GALT6
- CERK
- CGT
- CST
- FUT1
- FUT2
- GAL3ST1
- GALGT
- GALT4
- H
- HSC
- KIAA1646
- SEC2
- SIAT2
- SIAT4B
- SIAT6
- SIAT7E
- SIAT7F
- SIAT8E
- SIAT9
- ST3GAL2
- ST3GAL3
- ST3GAL5
- ST6GALNAC5
- ST6GALNAC6
- ST8SIA5
- UGCG
- UGT4
- UGT8
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Homo sapiens (human)
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Regulation of Apoptosis
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Homo sapiens (human)
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Type I hemidesmosome assembly
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- BP180
- BP230
- BP240
- BPAG1
- BPAG2
- CD151
- COL17A1
- DMH
- DST
- DT
- ITGA6
- ITGB4
- KIAA0728
- LAMA3
- LAMB2T
- LAMB3
- LAMC2
- LAMNA
- LAMNB1
- LAMNB2
- PLEC
- PLEC1
- TSPAN24
|
Homo sapiens (human)
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Vpu mediated degradation of CD4
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|
|
- ADRM1
- BTRC
- BTRCP
- C7orf76
- CD4
- DSS1
- EMC19
- FBW1A
- FBXW1A
- GP110
- HC2
- HC3
- HC8
- HC9
- HSPC
- KIAA0107
- LMPX
- LMPY
- MB1
- MIP224
- MOV34L
- MSS1
- NU
- OCP2
- 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
- SKP1
- SKP1A
- SUG1
- SUG2
- TBP1
- TBP7
- TCEB1L
- TRAP2
- UBA52
- UBA80
- UBB
- UBC
- UBCEP1
- UBCEP2
- X
- Y
- Z
- vpu
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Homo sapiens (human)
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Maturation of TCA enzymes and regulation of TCA cycle
|
- Acetyl-CoA acetyltransferase, mitochondrial
- Aconitate hydratase, mitochondrial
- Citrate synthase, mitochondrial
- Citrate synthase-lysine N-methyltransferase CSKMT, mitochondrial
- Frataxin, mitochondrial
- Iron-sulfur cluster assembly 1 homolog, mitochondrial
- Iron-sulfur cluster assembly 2 homolog, mitochondrial
- Isocitrate dehydrogenase [NADP], mitochondrial
- LYR motif-containing protein 4
- NAD-dependent protein deacetylase sirtuin-3, mitochondrial
- Succinate dehydrogenase [ubiquinone] cytochrome b small subunit, mitochondrial
- Succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial
- Succinate dehydrogenase [ubiquinone] iron-sulfur subunit, mitochondrial
- Succinate dehydrogenase assembly factor 1, mitochondrial
- Succinate dehydrogenase assembly factor 2, mitochondrial
- Succinate dehydrogenase assembly factor 3, mitochondrial
- Succinate dehydrogenase assembly factor 4, mitochondrial
- Succinate dehydrogenase cytochrome b560 subunit, mitochondrial
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|
- ACAT
- ACAT1
- ACN9
- ACO2
- C11orf79
- C6orf149
- C6orf57
- CS
- CSKMT
- CYB560
- FRDA
- FXN
- HBLD1
- HBLD2
- IDH2
- ISCA1
- ISCA2
- ISD11
- LYRM4
- LYRM8
- MAT
- METTL12
- PGL2
- SDH
- SDH1
- SDH2
- SDH3
- SDH4
- SDH5
- SDHA
- SDHAF1
- SDHAF2
- SDHAF3
- SDHAF4
- SDHB
- SDHC
- SDHD
- SDHF
- SIR2L3
- SIRT3
- X25
|
Homo sapiens (human)
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Negative regulators of RIG-I/MDA5 signaling
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|
|
- APG12
- APG12L
- APG5L
- ASP
- ATG12
- ATG5
- CAP-1
- CEB1
- CEBP1
- CRAF1
- CYLD
- CYLD1
- DDX58
- EFP
- G1P2
- HERC5
- HIP2
- IFIH1
- IKBKE
- IKKE
- IKKI
- IPS1
- IRF3
- ISG15
- ITCH
- KIAA0151
- KIAA0849
- KIAA1271
- LIG
- MAVS
- MDA5
- NAK
- NLRC5
- NLRX1
- NOD27
- NOD4
- NOD5
- NOD9
- OTUD5
- OTUD7C
- PCBP2
- PIN1
- PUBC1
- RH116
- RIGI
- RNF125
- RNF135
- RNF147
- RNF216
- RNF87
- RPS27A
- SFT
- T6BP
- TAX1BP1
- TBK1
- TNFAIP3
- TRAF3
- TRAFAMN
- TRIAD3
- TRIM25
- TRIM4
- UBA52
- UBA7
- UBA80
- UBB
- UBC
- UBC4
- UBC5A
- UBC5B
- UBC5C
- UBCE7IP1
- UBCEP1
- UBCEP2
- UBCH4
- UBCH5
- UBCH5A
- UBCH5B
- UBCH5C
- UBCH8
- UBE1L
- UBE2
- UBE2D1
- UBE2D2
- UBE2D3
- UBE2K
- UBE2L6
- UCRP
- VISA
- ZIN
- ZNF147
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Homo sapiens (human)
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RET signaling
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- ARTN
- BMK1
- C20orf180
- CDHF12
- CDHR16
- DOK1
- DOK2
- DOK4
- DOK5
- DOK5L
- DOK6
- ENIGMA
- ERK5
- EVN
- FRS2
- GAB1
- GAB2
- GDNF
- GDNFRA
- GDNFRB
- GFRA1
- GFRA2
- GFRA3
- GFRA4
- GRB1
- GRB10
- GRB7
- GRBIR
- IRS2
- KIAA0207
- KIAA0474
- KIAA0571
- KIAA1650
- MAPK7
- NRTN
- NSHC
- PDLIM7
- PIK3C1
- PIK3CA
- PIK3CB
- PIK3CD
- PIK3R1
- PIK3R2
- PIK3R3
- PKACA
- PKCA
- PLC1
- PLCG1
- PRKACA
- PRKACB
- PRKACG
- PRKCA
- PRKM7
- PROSAP2
- PSAP2
- PSPN
- PTC
- PTP2C
- PTPN11
- RAP1GA1
- RAP1GAP
- RET
- RETL1
- RETL2
- SHANK3
- SHC
- SHC1
- SHC3
- SHCA
- SHCC
- SHPTP2
- SOS1
- TRNR1
- TRNR2
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Homo sapiens (human)
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PTK6 Regulates Proteins Involved in RNA Processing
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- BRK
- KHDRBS1
- KHDRBS2
- KHDRBS3
- PSF
- PTK6
- SALP
- SAM68
- SFPQ
- SLM1
- SLM2
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Homo sapiens (human)
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G2/M DNA replication checkpoint
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- CCNB
- CCNB1
- CCNB2
- CDC2
- CDC28A
- CDK1
- CDKN1
- MYT1
- P34CDC2
- PKMYT1
- WEE1
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Homo sapiens (human)
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RHOC GTPase cycle
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- ABCD3
- ABR
- ACBD5
- AKAP13
- ANLN
- ARH12
- ARH9
- ARHA
- ARHC
- ARHGAP1
- ARHGAP10
- ARHGAP18
- ARHGAP21
- ARHGAP26
- ARHGAP32
- ARHGAP35
- ARHGAP39
- ARHGAP5
- ARHGAP7
- ARHGDIA
- ARHGEF1
- ARHGEF10
- ARHGEF10L
- ARHGEF11
- ARHGEF12
- ARHGEF17
- ARHGEF25
- ARHGEF28
- ARHGEF40
- ARHGEF5
- BCR
- BCR1
- BND7
- BRX
- C1QBP
- CAV
- CAV1
- CAVIN1
- CCDC187
- CDC42GAP
- CIT
- CRIK
- CTNNG
- D22S11
- DAAM1
- DBL
- DEPDC1B
- DIAP1
- DIAP3
- DIAPH1
- DIAPH3
- DLC1
- DLC2
- DP3
- EPB72
- ERBB2IP
- ERBIN
- ERGIC53
- ESA1
- F5F8D
- FHOD2
- FHOD3
- FLOT1
- FLOT2
- FMNL2
- FMNL3
- FRL2
- GC1QBP
- GDIA1
- GEFT
- GRAF
- GRB1
- GRF1
- GRINCHGEF
- GRIT
- GRLF1
- GT650
- HABP1
- HT31
- IQGAP1
- IQGAP3
- JUP
- KIAA0051
- KIAA0204
- KIAA0294
- KIAA0337
- KIAA0362
- KIAA0380
- KIAA0382
- KIAA0619
- KIAA0621
- KIAA0666
- KIAA0712
- KIAA0949
- KIAA1225
- KIAA1415
- KIAA1424
- KIAA1478
- KIAA1626
- KIAA1688
- KIAA1722
- KIAA1723
- KIAA1902
- KIAA1996
- KIAA1998
- KIAA2014
- LAP2
- LARG
- LBC
- LBR
- LMAN1
- LOK
- M17S1
- MACO1
- MCAM
- MCF2
- MCF2L
- MGCRACGAP
- MUC18
- MYO9B
- MYR5
- OPHN1
- OPHN1L
- OST
- P190A
- PAK1
- PIK3R1
- PKN
- PKN1
- PKN2
- PKN3
- PKNBETA
- PMP70
- PREX1
- PRK1
- PRK2
- PRKCL1
- PRKCL2
- PTRF
- PXMP1
- RACGAP1
- RGNEF
- RHO12
- RHOA
- RHOC
- RHOGAP1
- RHOGAP5
- RICS
- ROCK1
- ROCK2
- RTKN
- RTKN1
- SF2P32
- SLK
- SOLO
- STARD12
- STARD13
- STB2
- STK10
- STK2
- STK21
- STOM
- STX5
- STX5A
- SYB3
- TEM4
- TFRC
- TIM
- TJP2
- TMEM57
- TMPO
- VAMP3
- VANGL1
- VAPB
- VAV2
- WBP3
- X104
- XTP8
- ZO2
- p190ARHOGAP
|
Homo sapiens (human)
|
|
Defective SLC24A1 causes congenital stationary night blindness 1D (CSNB1D)
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Homo sapiens (human)
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|
Defective AVP does not bind AVPR1A,B and causes neurohypophyseal diabetes insipidus (NDI)
|
|
|
- ARVP
- AVP
- AVPR1
- AVPR1A
- AVPR1B
- AVPR3
- VP
- VPR3
|
Homo sapiens (human)
|
|
SHC-mediated cascade:FGFR3
|
|
|
- FGF1
- FGF16
- FGF18
- FGF2
- FGF20
- FGF23
- FGF4
- FGF9
- FGFA
- FGFB
- HRAS
- HRAS1
- HST
- HSTF1
- HYPF
- KS3
- NRAS
- SOS1
|
Homo sapiens (human)
|
|
MAPK3 (ERK1) activation
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|
|
- CDC2
- CDC28A
- CDK1
- CDKN1
- ERK1
- IFNB2
- IL6
- IL6R
- JAK1
- JAK1A
- JAK1B
- JAK2
- MAP2K1
- MAPK3
- MEK1
- P34CDC2
- PRKM3
- PRKMK1
- PTP2C
- PTPN11
- SHPTP2
- TYK2
|
Homo sapiens (human)
|
|
Cytoprotection by HMOX1
|
- 3'-5' exoribonuclease HELZ2
- Albumin
- Biliverdin reductase A
- CREB-binding protein
- Chromodomain-helicase-DNA-binding protein 9
- Cytochrome c oxidase subunit 1
- Cytochrome c oxidase subunit 2
- Cytochrome c oxidase subunit 3
- Cytochrome c oxidase subunit 4 isoform 1, mitochondrial
- Cytochrome c oxidase subunit 4 isoform 2, mitochondrial
- Cytochrome c oxidase subunit 5A, mitochondrial
- Cytochrome c oxidase subunit 5B, mitochondrial
- Cytochrome c oxidase subunit 6A1, mitochondrial
- Cytochrome c oxidase subunit 6A2, mitochondrial
- Cytochrome c oxidase subunit 6B1
- Cytochrome c oxidase subunit 6B2
- Cytochrome c oxidase subunit 6C
- Cytochrome c oxidase subunit 7A-related protein, mitochondrial
- Cytochrome c oxidase subunit 7A1, mitochondrial
- Cytochrome c oxidase subunit 7A2, mitochondrial
- Cytochrome c oxidase subunit 7B, mitochondrial
- Cytochrome c oxidase subunit 7C, mitochondrial
- Cytochrome c oxidase subunit 8A, mitochondrial
- Cytochrome c oxidase subunit 8C, mitochondrial
- Cytochrome c oxidase subunit NDUFA4
- Cytochrome c
- F-box-like/WD repeat-containing protein TBL1X
- F-box-like/WD repeat-containing protein TBL1XR1
- Fatty acid-binding protein, liver
- Flavin reductase (NADPH)
- HIG1 domain family member 1C
- Heme oxygenase 1
- Heme oxygenase 2
- Hemoglobin subunit alpha
- Hemoglobin subunit beta
- Histone deacetylase 3
- Histone-arginine methyltransferase CARM1
- Mediator of RNA polymerase II transcription subunit 1
- Multidrug resistance-associated protein 1
- NACHT, LRR and PYD domains-containing protein 3
- Nuclear receptor coactivator 1
- Nuclear receptor coactivator 2
- Nuclear receptor coactivator 6
- Nuclear receptor corepressor 1
- Nuclear receptor corepressor 2
- Paired amphipathic helix protein Sin3a
- Peroxisome proliferator-activated receptor alpha
- Protein-tyrosine kinase 6
- Retinoic acid receptor RXR-alpha
- SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily D member 3
- Signal transducer and activator of transcription 3
- Signal-transducing adaptor protein 2
- Thioredoxin-interacting protein
- Trimethylguanosine synthase
|
|
- ABCC1
- AIB3
- ALB
- APRF
- ARC205
- BAF60C
- BHLHE74
- BHLHE75
- BKS
- BLVR
- BLVRA
- BLVRB
- BRK
- BVR
- C1orf7
- CARM1
- CBP
- CHD9
- CIAS1
- COI
- COII
- COIII
- COX2
- COX4
- COX4I1
- COX4I2
- COX4L2
- COX5A
- COX5B
- COX6A
- COX6A1
- COX6A2
- COX6AH
- COX6AL
- COX6B
- COX6B1
- COX6B2
- COX6C
- COX7A1
- COX7A2
- COX7A2L
- COX7AH
- COX7AL
- COX7AR
- COX7B
- COX7C
- COX7RP
- COX8
- COX8A
- COX8C
- COX8L
- COXI
- COXII
- COXIII
- CREBBP
- CRSP1
- CRSP200
- CTG26
- CYC
- CYCS
- DRIP205
- DRIP230
- FABP1
- FABPL
- FLR
- HBA1
- HBA2
- HBB
- HCA137
- HDAC3
- HELZ2
- HIGD1C
- HMOX1
- HMOX2
- HO
- HO1
- HO2
- IRA1
- KIAA0181
- KIAA0308
- KIAA1047
- KIAA1769
- KISH2
- MED1
- MRP
- MRP1
- MT-CO1
- MT-CO2
- MT-CO3
- MTCO1
- MTCO2
- MTCO3
- NALP3
- NCOA1
- NCOA2
- NCOA6
- NCOA6IP
- NCOR1
- NCOR2
- NDUFA4
- NLRP3
- NR1C1
- NR2B1
- PBP
- PIMT
- PPAR
- PPARA
- PPARBP
- PPARGBP
- PRIC285
- PRIC320
- PRMT4
- PTK6
- PYPAF1
- RAP250
- RB18A
- RXRA
- SCAN
- SIN3A
- SMARCD3
- SRC1
- SRC2
- STAP2
- STAT3
- TBL1
- TBL1X
- TBL1XR1
- TBLR1
- TGS1
- TIF2
- TRAP220
- TRBP
- TRIP2
- TXNIP
- UBIE
- UBIE2
- VDUP1
|
Homo sapiens (human)
|
|
Defective DPAGT1 causes CDG-1j, CMSTA2
|
|
|
|
Homo sapiens (human)
|
|
Regulation of cholesterol biosynthesis by SREBP (SREBF)
|
|
|
- ARA24
- BHLHD2
- INSIG1
- INSIG2
- KIAA0079
- KIAA0091
- KIAA0199
- KIAA0755
- KPNB1
- MBTPS1
- MBTPS2
- NTF97
- RAN
- S1P
- S2P
- SAR1B
- SARA2
- SARB
- SCAP
- SEC23A
- SEC24A
- SEC24B
- SEC24C
- SEC24D
- SKI1
- SREBF2
- SREBP2
|
Homo sapiens (human)
|
|
Negative regulation of the PI3K/AKT network
|
|
|
- AKT1
- AKT2
- AKT3
- C20orf97
- CTMP
- KIAA0606
- KIAA0931
- MMAC1
- NIPK
- PHLPP
- PHLPP1
- PHLPP2
- PHLPPL
- PKB
- PKBG
- PLEKHE1
- PTEN
- RAC
- SCOP
- SKIP3
- TEP1
- THEM4
- TRB3
- TRIB3
|
Homo sapiens (human)
|
|
G alpha (12/13) signalling events
|
|
|
- ABR
- ADRA1A
- ADRA1B
- ADRA1C
- ADRA1D
- AGMX1
- AKAP13
- ARH12
- ARH6
- ARH9
- ARHA
- ARHB
- ARHC
- ARHDH9
- ARHGEF1
- ARHGEF10
- ARHGEF10L
- ARHGEF11
- ARHGEF12
- ARHGEF15
- ARHGEF16
- ARHGEF17
- ARHGEF18
- ARHGEF19
- ARHGEF2
- ARHGEF26
- ARHGEF3
- ARHGEF33
- ARHGEF35
- ARHGEF37
- ARHGEF38
- ARHGEF39
- ARHGEF4
- ARHGEF40
- ARHGEF5
- ARHGEF5L
- ARHGEF6
- ARHGEF7
- ARHGEF8
- ARHGEF9
- ATK
- BPK
- BRX
- BTK
- C9orf100
- COOL1
- COOL2
- DBL
- DUET
- DUO
- ECT2
- EPHEXIN4
- FGD1
- FGD2
- FGD3
- FGD4
- FGDY
- FRABP
- GNA12
- GNA13
- GNB1
- GNB2
- GNB3
- GNB4
- GNB5
- GNG10
- GNG11
- GNG12
- GNG13
- GNG2
- GNG3
- GNG4
- GNG5
- GNG7
- GNG8
- GNG9
- GNGT1
- GNGT10
- GNGT11
- GNGT2
- GNGT3
- GNGT4
- GNGT5
- GNGT7
- GNGT8
- GNGT9
- GRF2
- GRINCHGEF
- HAPIP
- HT31
- ITSN
- ITSN1
- KALRN
- KIAA0006
- KIAA0142
- KIAA0294
- KIAA0337
- KIAA0362
- KIAA0380
- KIAA0382
- KIAA0407
- KIAA0424
- KIAA0521
- KIAA0619
- KIAA0651
- KIAA0720
- KIAA0915
- KIAA1112
- KIAA1415
- KIAA1556
- KIAA1626
- KIAA1639
- KIAA2016
- LARG
- LBC
- LFP40
- MCF2
- MCF2L
- NBR
- NET1
- NGEF
- OBSCN
- OST
- P85SPR
- PAK3BP
- PIXA
- PIXB
- PLEKHG2
- PLEKHG5
- PLXN5
- PLXNB1
- PREX1
- RASGRF2
- RHO12
- RHOA
- RHOB
- RHOC
- ROCK1
- ROCK2
- SEP
- SGEF
- SH3D1A
- SOLO
- SOS1
- SOS2
- STEF
- TBXA2R
- TEM4
- TIAM1
- TIAM2
- TIM
- TRAD
- TRIO
- VAV
- VAV1
- VAV2
- VAV3
- ZFYVE3
- ZFYVE4
- ZFYVE5
- ZFYVE6
|
Homo sapiens (human)
|
|
The activation of arylsulfatases
|
|
|
- ARSA
- ARSB
- ARSC1
- ARSD
- ARSE
- ARSF
- ARSG
- ARSH
- ARSI
- ARSJ
- ARSK
- ARSL
- KIAA1001
- STS
- SUMF1
- SUMF2
- TSULF
|
Homo sapiens (human)
|
|