| Novel |
GJB2
|
gap junction protein beta 2 |
- Oligomerization of connexins into connexons
- Transport of connexins along the secretory pathway
- Gap junction assembly
- Transport of connexons to the plasma membrane
|
|
- Deafness, autosomal recessive
- Keratitis-ichthyosis-deafness syndrome
- Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis
- Deafness, autosomal dominant
- Palmoplantar keratoderma with deafness
|
| Novel |
GRM7
|
glutamate metabotropic receptor 7 |
- G alpha (i) signalling events
- Class C/3 (Metabotropic glutamate/pheromone receptors)
|
|
|
| Novel |
LIMD1
|
LIM domain containing 1 |
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
- Oxygen-dependent proline hydroxylation of Hypoxia-inducible Factor Alpha
|
|
|
| Novel |
MAP3K2
|
mitogen-activated protein kinase kinase kinase 2 |
|
|
|
| Novel |
OPA3
|
outer mitochondrial membrane lipid metabolism regulator OPA3 |
|
|
- Autosomal dominant optic atrophy (DOA); Kjer's optic neuropathy
- 3-Methylglutaconic aciduria (MGCA)
|
| Novel |
PROC
|
protein C, inactivator of coagulation factors Va and VIIIa |
- Intrinsic Pathway of Fibrin Clot Formation
- Common Pathway of Fibrin Clot Formation
- Gamma-carboxylation of protein precursors
- Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus
- Removal of aminoterminal propeptides from gamma-carboxylated proteins
- Cell surface interactions at the vascular wall
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- Post-translational protein phosphorylation
|
- Menadione
- Sodium tetradecyl sulfate
- Cupric Chloride
- Kappadione
- Protein S human
|
|
| Novel |
SH3BP1
|
SH3 domain binding protein 1 |
|
|
|
|
APP
|
amyloid beta precursor protein |
- Platelet degranulation
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- G alpha (q) signalling events
- G alpha (i) signalling events
- Lysosome Vesicle Biogenesis
- Formyl peptide receptors bind formyl peptides and many other ligands
- TAK1-dependent IKK and NF-kappa-B activation
- The NLRP3 inflammasome
- Advanced glycosylation endproduct receptor signaling
- Advanced glycosylation endproduct receptor signaling
- Deregulated CDK5 triggers multiple neurodegenerative pathways in Alzheimer's disease models
- Post-translational protein phosphorylation
- TRAF6 mediated NF-kB activation
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Insertion of tail-anchored proteins into the endoplasmic reticulum membrane
- Purinergic signaling in leishmaniasis infection
- Amyloid fiber formation
|
- Deferoxamine
- Aluminium
- Zinc
- L-methionine (R)-S-oxide
- Resveratrol
- Tromethamine
- Phenserine
- Tetrathiomolybdate
- CAD106
- Mito-4509
- Edonerpic
- Dimercaprol
- Copper
- Florbetaben (18F)
- Florbetapir (18F)
- Flutemetamol (18F)
- Gantenerumab
- Aducanumab
- Zinc acetate
- Aluminium phosphate
- Aluminum acetate
- Zinc chloride
- Zinc sulfate, unspecified form
- Lecanemab
|
|
|
BICRAL
|
BICRA like chromatin remodeling complex associated protein |
- Formation of the non-canonical BAF (ncBAF) complex
|
|
|
|
FAF1
|
Fas associated factor 1 |
|
|
|
|
GUCD1
|
guanylyl cyclase domain containing 1 |
|
|
|
|
NPAS2
|
neuronal PAS domain protein 2 |
- BMAL1:CLOCK,NPAS2 activates circadian expression
- PPARA activates gene expression
- Heme signaling
- Expression of BMAL (ARNTL), CLOCK, and NPAS2
- Phosphorylated BMAL1:CLOCK (ARNTL:CLOCK) activates expression of core clock genes
- The CRY:PER:kinase complex represses transactivation by the BMAL:CLOCK (ARNTL:CLOCK) complex
|
|
|
|
NSFL1C
|
NSFL1 cofactor |
|
|
|
|
PAX5
|
paired box 5 |
- RUNX1 regulates transcription of genes involved in BCR signaling
|
|
- Lymphoplasmacytic lymphoma
|
|
PAX6
|
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Formation of the anterior neural plate
|
|
- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
|
|
RAD23A
|
RAD23 nucleotide excision repair protein A |
- Josephin domain DUBs
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
|
|
|
|
RAD23B
|
RAD23 nucleotide excision repair protein B |
- N-glycan trimming in the ER and Calnexin/Calreticulin cycle
- Josephin domain DUBs
- DNA Damage Recognition in GG-NER
- Formation of Incision Complex in GG-NER
|
|
|
|
SRPK2
|
SRSF protein kinase 2 |
- Maturation of nucleoprotein
|
- Adenine
- Purvalanol
- Phosphoaminophosphonic Acid-Adenylate Ester
|
|
|
TCF12
|
transcription factor 12 |
- Myogenesis
- Myogenesis
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- NGF-stimulated transcription
- NGF-stimulated transcription
- Negative Regulation of CDH1 Gene Transcription
- TGFBR3 expression
|
|
|
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TRAFD1
|
TRAF-type zinc finger domain containing 1 |
|
|
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