Defective SLC5A1 causes congenital glucose/galactose malabsorption (GGM)
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COX reactions
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Virion Assembly and Release
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Maturation of TCA enzymes and regulation of TCA cycle
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- 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
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Chylomicron assembly
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- APC2
- APOA1
- APOA2
- APOA4
- APOB
- APOC2
- APOC3
- APOE
- ERBA2L
- MTP
- MTTP
- P4HB
- PDI
- PDIA1
- PO4DB
- SAR1B
- SARA2
- SARB
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Digestion of dietary carbohydrate
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- AMY1
- AMY1A
- AMY1B
- AMY1C
- AMY2A
- AMY2B
- CHIA
- CHIT1
- LCT
- LPH
- MGA
- MGAM
- MGAML
- SI
- TREA
- TREH
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MASTL Facilitates Mitotic Progression
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- ARPP19
- CCNB
- CCNB1
- CDC2
- CDC28A
- CDK1
- CDKN1
- ENSA
- GW
- GWL
- KIAA1541
- MASTL
- P34CDC2
- PPP2CA
- PPP2CB
- PPP2R1A
- PPP2R1B
- PPP2R2D
- THC2
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Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
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- BBC1
- CBP20
- CBP80
- CCG2
- D11S2243E
- D6S218E
- DXS648E
- EC45
- EIF4F
- EIF4G
- EIF4G1
- EIF4GI
- ERF1
- ERF3A
- ERF3B
- ETF1
- FAU
- FTE1
- GSPT1
- GSPT2
- KIAA0221
- LAMBR
- LAMR1
- MFTL
- MPS1
- NCBP
- NCBP1
- NCBP2
- NEDD6
- PAB1
- PABP
- PABP1
- PABPC1
- PABPC2
- QM
- RENT1
- RF1
- RIG
- RPL1
- RPL10
- RPL10A
- RPL10L
- RPL11
- RPL12
- RPL13
- RPL13A
- RPL14
- RPL15
- RPL17
- RPL18
- RPL18A
- RPL19
- RPL21
- RPL22
- RPL22L1
- RPL23
- RPL23A
- RPL24
- RPL26
- RPL26L1
- RPL26P1
- RPL27
- RPL27A
- RPL28
- RPL29
- RPL3
- RPL30
- RPL31
- RPL32
- RPL34
- RPL35
- RPL35A
- RPL36
- RPL36A
- RPL36AL
- RPL37
- RPL37A
- RPL38
- RPL39
- RPL39L
- RPL39L1
- RPL3L
- RPL4
- RPL41
- RPL44
- RPL5
- RPL6
- RPL7
- RPL7A
- RPL8
- RPL9
- RPL9P7
- RPL9P8
- RPL9P9
- RPLP0
- RPLP1
- RPLP2
- RPP2
- RPS10
- RPS11
- RPS12
- RPS13
- RPS14
- RPS15
- RPS15A
- RPS16
- RPS17
- RPS17L
- RPS18
- RPS19
- RPS2
- RPS20
- RPS21
- RPS23
- RPS24
- RPS25
- RPS26
- RPS27
- RPS27A
- RPS27L
- RPS28
- RPS29
- RPS3
- RPS3A
- RPS4
- RPS4X
- RPS4Y
- RPS4Y1
- RPS4Y2
- RPS4Y2P
- RPS5
- RPS6
- RPS7
- RPS8
- RPS9
- RPSA
- RRP1
- SCAR
- SUP45L1
- SURF-3
- SURF3
- TXREB1
- UBA52
- UBA80
- UBCEP1
- UBCEP2
- UPF1
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Striated Muscle Contraction
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- Alpha-actinin-2
- Alpha-actinin-3
- Desmin
- Dystrophin
- Myosin light chain 1/3, skeletal muscle isoform
- Myosin light chain 3
- Myosin light chain 4
- Myosin regulatory light chain 2, ventricular/cardiac muscle isoform
- Myosin-3
- Myosin-6
- Myosin-8
- Myosin-binding protein C, cardiac-type
- Myosin-binding protein C, fast-type
- Myosin-binding protein C, slow-type
- Nebulin
- Telethonin
- Titin
- Tropomodulin-1
- Tropomodulin-2
- Tropomodulin-3
- Tropomodulin-4
- Tropomyosin alpha-1 chain
- Tropomyosin alpha-3 chain
- Tropomyosin alpha-4 chain
- Tropomyosin beta chain
- Troponin C, skeletal muscle
- Troponin C, slow skeletal and cardiac muscles
- Troponin I, cardiac muscle
- Troponin I, fast skeletal muscle
- Troponin I, slow skeletal muscle
- Troponin T, cardiac muscle
- Troponin T, fast skeletal muscle
- Troponin T, slow skeletal muscle
- Vimentin
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- ACTN2
- ACTN3
- C15orf13
- D9S57E
- DES
- DMD
- MLC1
- MLC2
- MYBPC1
- MYBPC2
- MYBPC3
- MYBPCF
- MYBPCS
- MYH3
- MYH6
- MYH8
- MYHCA
- MYL1
- MYL2
- MYL3
- MYL4
- NEB
- NTMOD
- TCAP
- TMOD
- TMOD1
- TMOD2
- TMOD3
- TMOD4
- TMSA
- TMSB
- TNNC
- TNNC1
- TNNC2
- TNNI1
- TNNI2
- TNNI3
- TNNT1
- TNNT2
- TNNT3
- TNT
- TPM1
- TPM2
- TPM3
- TPM4
- TTN
- VIM
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COPI-dependent Golgi-to-ER retrograde traffic
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- ARCN1
- ARF1
- ARF1GAP
- ARF2
- ARF3
- ARF4
- ARF5
- ARFGAP1
- ARFGAP2
- ARFGAP3
- ATSV
- BNIP1
- C15orf22
- C20orf23
- C2orf20
- C6orf102
- CENPE
- COPA
- COPB
- COPB1
- COPB2
- COPD
- COPE
- COPG
- COPG1
- COPG2
- COPZ
- COPZ1
- COPZ2
- EG5
- ERD2.1
- ERD2.2
- ERD23
- GAKIN
- GBF1
- GP25L2
- HSET
- KDELR1
- KDELR2
- KDELR3
- KIAA0248
- KIAA0359
- KIAA0449
- KIAA0591
- KIAA0639
- KIAA0706
- KIAA1236
- KIAA1448
- KIAA1478
- KIAA1590
- KIAA1708
- KID
- KIF11
- KIF12
- KIF13B
- KIF15
- KIF16B
- KIF18A
- KIF18B
- KIF19
- KIF1A
- KIF1B
- KIF1C
- KIF2
- KIF20A
- KIF20B
- KIF21A
- KIF21B
- KIF22
- KIF23
- KIF25
- KIF26A
- KIF26B
- KIF27
- KIF28P
- KIF2A
- KIF2B
- KIF2C
- KIF3
- KIF3A
- KIF3AP
- KIF3B
- KIF3C
- KIF4
- KIF4A
- KIF4B
- KIF5A
- KIF5B
- KIF5C
- KIF6
- KIF9
- KIFAP3
- KIFC1
- KIFC2
- KLC
- KLC1
- KLC2
- KLC2L
- KLC3
- KLC4
- KLP2
- KLP6
- KNS
- KNS1
- KNS2
- KNSL1
- KNSL2
- KNSL3
- KNSL4
- KNSL5
- KNSL6
- KNSL7
- KNSL8
- KRMP1
- MGCRACGAP
- MKLP1
- MKLP2
- MPHOSPH1
- NAG
- NAPA
- NAPB
- NAPG
- NBAS
- NIP1
- NKHC1
- NSF
- RAB1
- RAB1A
- RAB1B
- RAB6KIFL
- RACGAP1
- RINT1
- RNP24
- SEC20L
- SEC22B
- SEC22L1
- SMAP
- SNAPA
- SNAPB
- SNAPG
- SNX23
- STX18
- SURF-4
- SURF4
- TMED10
- TMED2
- TMED3
- TMED7
- TMED9
- TMP21
- TRIP5
- USE1
- USE1L
- ZNF289
- ZW10
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Nilotinib-resistant KIT mutants
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Formation of the HIV-1 Early Elongation Complex
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- 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 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
- Negative elongation factor A
- Negative elongation factor B
- Negative elongation factor C/D
- Negative elongation factor E
- Nuclear cap-binding protein subunit 1
- Nuclear cap-binding protein subunit 2
- RNA polymerase II subunit A C-terminal domain phosphatase
- Transcription elongation factor SPT4
- Transcription elongation factor SPT5
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- BTF2
- BTF2P44
- C6orf175
- CAK
- CAK1
- CAP35
- CBP20
- CBP80
- CCNH
- CDK7
- CDKN7
- COBRA1
- CTDP1
- ERCC2
- ERCC3
- FCP1
- GTF2F1
- GTF2F2
- GTF2H1
- GTF2H2
- GTF2H3
- GTF2H4
- GTF2H5
- KIAA1182
- MAT1
- MNAT1
- MO15
- NCBP
- NCBP1
- NCBP2
- NELFA
- NELFB
- NELFCD
- NELFD
- NELFE
- POLR2
- POLR2A
- POLR2B
- POLR2C
- POLR2D
- POLR2E
- POLR2F
- POLR2G
- POLR2H
- POLR2I
- POLR2J
- POLR2J1
- POLR2K
- POLR2L
- POLRF
- RAP30
- RAP74
- RD
- RDBP
- RNF66
- RPB7
- SPT4H
- SPT5
- SPT5H
- STK1
- SUPT4H
- SUPT4H1
- SUPT5H
- TH1
- TH1L
- TTDA
- WHSC2
- XPB
- XPBC
- XPD
- XPDC
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APAP ADME
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- AAC1
- AAC2
- ABCC1
- ABCC2
- ABCC3
- ABCC4
- ABCC5
- ABCG2
- ABCP
- ACY1
- BCRP
- BCRP1
- CMOAT
- CMOAT1
- CMOAT2
- CMRP
- CN2
- CNDP2
- CPGL
- CYP2E
- CYP2E1
- FAEES3
- GGT
- GGT1
- GGT3
- GGT3P
- GGT5
- GGT6
- GGT7
- GGTL3
- GGTL5
- GGTLA1
- GNT1
- GST1
- GST3
- GSTM1
- GSTP1
- GSTT1
- HEL-S-13
- HST
- MLP2
- MOATB
- MRP
- MRP1
- MRP2
- MRP3
- MRP4
- MRP5
- MXR
- NAT1
- NAT2
- PEPA
- STD
- STE
- STM
- STP
- STP1
- SULT1A1
- SULT1A3
- SULT1A4
- SULT1C2
- SULT1C4
- SULT1E1
- SULT2A1
- UGT1
- UGT1A1
- UGT1A10
- UGT1A6
- UGT1A9
- UGT2B15
- UGT2B8
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Apoptotic factor-mediated response
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- C1QBP
- CDKN2
- CDKN2A
- GC1QBP
- HABP1
- MLM
- SF2P32
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RAS signaling downstream of NF1 loss-of-function variants
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- EVE-3
- HRAS
- HRAS1
- NF1
- NRAS
- SPRED1
- SPRED2
- SPRED3
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Linoleic acid (LA) metabolism
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- ABCD1
- ACSL1
- ALD
- CIG30
- ELG3
- ELOVL1
- ELOVL2
- ELOVL3
- ELOVL5
- FACL1
- FACL2
- FADS1
- FADS2
- FADSD5
- LACS
- LACS1
- LACS2
- SSC1
- SSC2
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Defective ACTH causes obesity and POMCD
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Serotonin and melatonin biosynthesis
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- AADC
- AANAT
- ASMT
- DDC
- NTPH
- SNAT
- TPH
- TPH1
- TPH2
- TPRH
- TRPH
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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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Class I peroxisomal membrane protein import
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- ABCD1
- ABCD2
- ABCD3
- ACBD5
- ALD
- ALD1
- ALDL1
- ALDR
- ALDRP
- ATAD1
- FIS1
- GDAP1
- HK33
- KIAA1996
- PAF1
- PAF3
- PEX11B
- PEX12
- PEX13
- PEX14
- PEX16
- PEX19
- PEX2
- PEX26
- PEX3
- PMP22
- PMP24
- PMP3
- PMP34
- PMP35
- PMP70
- PXF
- PXMP1
- PXMP2
- PXMP3
- PXMP4
- RNF72
- SLC25A17
- TTC11
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Signaling by MAPK mutants
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- C11orf81
- DUSP10
- DUSP16
- DUSP6
- DUSP7
- DUSP8
- DUSP9
- ERK2
- KIAA1700
- MAPK1
- MKP3
- MKP4
- MKP5
- MKP7
- PRKM1
- PRKM2
- PYST1
- PYST2
- VH5
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TALDO1 deficiency: failed conversion of Fru(6)P, E4P to SH7P, GA3P
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Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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- ABC2
- ATX
- BBC1
- C17orf31
- C17orf71
- C19orf61
- C1orf16
- CASC3
- CBP20
- CBP80
- CCG2
- D11S2243E
- D6S218E
- DCP1A
- DDX48
- DXS648E
- EC45
- EIF4A3
- EIF4F
- EIF4G
- EIF4G1
- EIF4GI
- ERF1
- ERF3A
- ERF3B
- EST1A
- EST1B
- EST1C
- ETF1
- FAU
- FTE1
- GSPT1
- GSPT2
- KIAA0111
- KIAA0221
- KIAA0250
- KIAA0421
- KIAA0732
- KIAA1089
- KIAA1408
- LAMBR
- LAMR1
- LDC2
- LIP
- MAGOH
- MAGOH2
- MAGOHA
- MAGOHB
- MFTL
- MLN51
- MPS1
- NCBP
- NCBP1
- NCBP2
- NEDD6
- PAB1
- PABP
- PABP1
- PABPC1
- PABPC2
- PNRC2
- PPP2CA
- PPP2R1A
- PPP2R2A
- QM
- RBM8
- RBM8A
- RENT1
- RENT2
- RENT3A
- RENT3B
- RF1
- RIG
- RNPS1
- RPL1
- RPL10
- RPL10A
- RPL10L
- RPL11
- RPL12
- RPL13
- RPL13A
- RPL14
- RPL15
- RPL17
- RPL18
- RPL18A
- RPL19
- RPL21
- RPL22
- RPL22L1
- RPL23
- RPL23A
- RPL24
- RPL26
- RPL26L1
- RPL26P1
- RPL27
- RPL27A
- RPL28
- RPL29
- RPL3
- RPL30
- RPL31
- RPL32
- RPL34
- RPL35
- RPL35A
- RPL36
- RPL36A
- RPL36AL
- RPL37
- RPL37A
- RPL38
- RPL39
- RPL39L
- RPL39L1
- RPL3L
- RPL4
- RPL41
- RPL44
- RPL5
- RPL6
- RPL7
- RPL7A
- RPL8
- RPL9
- RPL9P7
- RPL9P8
- RPL9P9
- RPLP0
- RPLP1
- RPLP2
- RPP2
- RPS10
- RPS11
- RPS12
- RPS13
- RPS14
- RPS15
- RPS15A
- RPS16
- RPS17
- RPS17L
- RPS18
- RPS19
- RPS2
- RPS20
- RPS21
- RPS23
- RPS24
- RPS25
- RPS26
- RPS27
- RPS27A
- RPS27L
- RPS28
- RPS29
- RPS3
- RPS3A
- RPS4
- RPS4X
- RPS4Y
- RPS4Y1
- RPS4Y2
- RPS4Y2P
- RPS5
- RPS6
- RPS7
- RPS8
- RPS9
- RPSA
- RRP1
- SCAR
- SMG1
- SMG5
- SMG6
- SMG7
- SMG8
- SMG9
- SMIF
- SUP45L1
- SURF-3
- SURF3
- TXREB1
- UBA52
- UBA80
- UBCEP1
- UBCEP2
- UPF1
- UPF2
- UPF3
- UPF3A
- UPF3B
- UPF3X
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Association of TriC/CCT with target proteins during biosynthesis
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- 99D8.1
- AP3M1
- APRF
- ARFGEF2
- ARFGEP2
- BIG2
- C21orf112
- CCNE
- CCNE1
- CCNE2
- CCT1
- CCT2
- CCT3
- CCT4
- CCT5
- CCT6
- CCT6A
- CCT6B
- CCT7
- CCT8
- CCTA
- CCTB
- CCTD
- CCTE
- CCTG
- CCTH
- CCTQ
- CCTZ
- DCAF7
- DDX13
- FBG2
- FBL3A
- FBL4
- FBL5
- FBS2
- FBW2
- FBW4
- FBW5
- FBW7
- FBW9
- FBX30
- FBX4
- FBX6
- FBXL3
- FBXL3A
- FBXL5
- FBXO4
- FBXO6
- FBXW10
- FBXW2
- FBXW4
- FBXW5
- FBXW7
- FBXW9
- FKBP60
- FKBP63
- FKBP9
- FLR1
- FWD2
- GAPD2
- GAPDH2
- GAPDHS
- GAPDS
- GBA
- GBA1
- GC
- GLUC
- HAN11
- HDAC3
- KIAA0002
- KIAA0098
- KIF13A
- LONP
- LONP2
- NIP7-1
- NOL5A
- NOP56
- P53
- RBKIN
- SEL10
- SHFM3
- SK1
- SKI2W
- SKIC2
- SKIV2
- SKIV2L
- SPHK
- SPHK1
- SPK
- SRB
- STAT3
- TCAB1
- TCP1
- TP53
- TRIC5
- UHX1
- USP11
- W
- WDR68
- WDR79
- WRAP53
- XRN2
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VLDL clearance
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- APOB
- APOB48R
- APOBR
- APOC1
- APOC4
- ILDR3
- LISCH
- LSR
- VLDLR
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