| Novel |
CPOX
|
coproporphyrinogen oxidase |
|
|
- Hepatic porphyria, including: Porphyria Cutanea Tarda (PCT); VHepatoerythropoietic porphyria; Acute Intermittent Porphyria (AIP); Variegate porphyria (VP); ALA-dehydratase deficiency porphyria (ALADP); Hereditary Coproporphyria (HCP)
|
| Novel |
GNAT1
|
G protein subunit alpha transducin 1 |
- Activation of the phototransduction cascade
- Activation of the phototransduction cascade
- Inactivation, recovery and regulation of the phototransduction cascade
- Inactivation, recovery and regulation of the phototransduction cascade
- G alpha (i) signalling events
|
- Cacodylic acid
- Guanosine-5'-Diphosphate
- Tetrafluoroaluminate Ion
|
- Congenital stationary night blindness (CSNB), including: CSNB type 1 (CSNB1); CSNB type 2 (CSNB2); CSNB autosomal dominant (CSNBAD); Oguchi disease/ CSNB Oguchi type (CSNBO)
|
| Novel |
IMPDH2
|
inosine monophosphate dehydrogenase 2 |
- Neutrophil degranulation
- Purine ribonucleoside monophosphate biosynthesis
- Potential therapeutics for SARS
- Azathioprine ADME
|
- NADH
- Mycophenolate mofetil
- Ribavirin
- Mycophenolic acid
- Mercaptopurine
- Selenazole-4-carboxyamide-adenine dinucleotide
- 6-Chloropurine Riboside, 5'-Monophosphate
- Inosinic Acid
- VX-148
|
|
| Novel |
PDHB
|
pyruvate dehydrogenase E1 subunit beta |
- Regulation of pyruvate dehydrogenase (PDH) complex
- Signaling by Retinoic Acid
- Mitochondrial protein degradation
- PDH complex synthesizes acetyl-CoA from PYR
|
|
- Pyruvate dehydrogenase complex deficiency; X-linked Leigh syndrome
|
| Novel |
SERINC3
|
serine incorporator 3 |
|
|
|
| Novel |
SYNJ2
|
synaptojanin 2 |
- Synthesis of PIPs at the plasma membrane
- Clathrin-mediated endocytosis
|
|
|
|
ACTN1
|
actinin alpha 1 |
- Platelet degranulation
- Syndecan interactions
- Nephrin family interactions
- Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
- RHOD GTPase cycle
- RHOBTB2 GTPase cycle
- RHOF GTPase cycle
|
|
|
|
ACTN2
|
actinin alpha 2 |
- Platelet degranulation
- Nephrin family interactions
- Striated Muscle Contraction
- Unblocking of NMDA receptors, glutamate binding and activation
- Unblocking of NMDA receptors, glutamate binding and activation
- Ras activation upon Ca2+ influx through NMDA receptor
- RAF/MAP kinase cascade
- Assembly and cell surface presentation of NMDA receptors
- Negative regulation of NMDA receptor-mediated neuronal transmission
- Long-term potentiation
|
|
|
|
ACTN4
|
actinin alpha 4 |
- Platelet degranulation
- Nephrin family interactions
|
|
- Nephrotic syndrome and focal segmental glomerulosclerosis
|
|
ADAM33
|
ADAM metallopeptidase domain 33 |
- Regulation of CDH11 function
|
|
|
|
AGRN
|
agrin |
- Glycosaminoglycan-protein linkage region biosynthesis
- HS-GAG biosynthesis
- HS-GAG biosynthesis
- HS-GAG degradation
- Integrin cell surface interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- ECM proteoglycans
- Defective B4GALT7 causes EDS, progeroid type
- Defective B3GAT3 causes JDSSDHD
- Defective EXT2 causes exostoses 2
- Defective EXT1 causes exostoses 1, TRPS2 and CHDS
- NCAM1 interactions
- Defective B3GALT6 causes EDSP2 and SEMDJL1
- Attachment and Entry
- Attachment and Entry
- Retinoid metabolism and transport
- Respiratory syncytial virus (RSV) attachment and entry
- RSV-host interactions
- Formation of the dystrophin-glycoprotein complex (DGC)
|
|
- Congenital myasthenic syndrome
|
|
CARD10
|
caspase recruitment domain family member 10 |
|
|
|
|
CEP70
|
centrosomal protein 70 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
|
|
|
|
CEP72
|
centrosomal protein 72 |
- Regulation of PLK1 Activity at G2/M Transition
- Loss of Nlp from mitotic centrosomes
- Recruitment of mitotic centrosome proteins and complexes
- Loss of proteins required for interphase microtubule organization from the centrosome
- Recruitment of NuMA to mitotic centrosomes
- Anchoring of the basal body to the plasma membrane
- AURKA Activation by TPX2
|
|
|
|
COG6
|
component of oligomeric golgi complex 6 |
- COPI-mediated anterograde transport
- Intra-Golgi traffic
- Retrograde transport at the Trans-Golgi-Network
|
|
|
|
CRIM1
|
cysteine rich transmembrane BMP regulator 1 |
|
|
|
|
CRX
|
cone-rod homeobox |
|
|
- Leber congenital amaurosis (LCR)
- Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
|
|
EFEMP1
|
EGF-like fibulin extracellular matrix protein 1 |
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
|
|
- Familial flecked retina syndrome, including: Doyne honeycomb degeneration of retina (DHRD); Basal laminar drusen (BLD); Fundus albipunctatus (FA); Retinitis punctata albescens (RPA); Bietti crystalline corneoretinal dystrophy (BCD)
|
|
EFEMP2
|
EGF-like fibulin extracellular matrix protein 2 |
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
|
|
- Cutis laxa, including: Autosomal dominant cutis laxa (ADCL); Autosomal recessive cutis laxa I (ARCL1); Autosomal recessive cutis laxa II (ARCL2); X-linked recessive cutis laxa (XRCL); Wrinkly skin syndrome
|
|
FBN1
|
fibrillin 1 |
- Degradation of the extracellular matrix
- Degradation of the extracellular matrix
- Elastic fibre formation
- Molecules associated with elastic fibres
- Molecules associated with elastic fibres
- Integrin cell surface interactions
- TGF-beta receptor signaling activates SMADs
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
|
|
- Geleophysic dysplasia
- Weill-Marchesani syndrome, including: Weill-Marchesani syndrome; Weill-Marchesani-like syndrome
- Shprintzen-Goldberg syndrome
- Ectopia lentis
- MASS phenotype
- Marfan syndrome, including: Marfan syndrome (MFS); Neonatal MFS; Atypically severe MFS; New variant of MFS
|