| Novel |
AKAP19
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A-kinase anchoring protein 19 |
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| Novel |
ANKAR
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ankyrin and armadillo repeat containing |
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| Novel |
HIBCH
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3-hydroxyisobutyryl-CoA hydrolase |
- Branched-chain amino acid catabolism
- 3-hydroxyisobutyryl-CoA hydrolase deficiency
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- Mitochondrial respiratory chain deficiencies (MRCD), including: Mitochondrial complex I deficiency (MT-C1D); Complex II deficiency (MT-C2D); Complex III deficiency (MT-C3D); Complex IV deficiency (MT-C4D); Complex V deficiency (MT-ATPSD); Leigh syndrome (LS); Kearns-Sayre Syndrome (KSS); LCHD deficiency (LCHD); Leber Hereditary Optic Neuropathy (LHON); Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF); NARP; MELAS; ACAD9 deficiency; HADH deficiency; HIBCH deficiency; GRACILE syndrome
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| Novel |
MSTN
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myostatin |
- FOXO-mediated transcription of cell cycle genes
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| Novel |
OSGEPL1
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O-sialoglycoprotein endopeptidase like 1 |
- tRNA modification in the mitochondrion
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| Novel |
STAT1
|
signal transducer and activator of transcription 1 |
- Interleukin-6 signaling
- ISG15 antiviral mechanism
- Signaling by SCF-KIT
- Signaling by cytosolic FGFR1 fusion mutants
- Downstream signal transduction
- Interleukin-4 and Interleukin-13 signaling
- Interleukin-20 family signaling
- Regulation of RUNX2 expression and activity
- Interleukin-35 Signalling
- Interleukin-9 signaling
- NOTCH3 Intracellular Domain Regulates Transcription
- NOTCH3 Intracellular Domain Regulates Transcription
- Interleukin-27 signaling
- Interleukin-21 signaling
- Interferon alpha/beta signaling
- Signaling by phosphorylated juxtamembrane, extracellular and kinase domain KIT mutants
- Signaling by PDGFRA transmembrane, juxtamembrane and kinase domain mutants
- Signaling by PDGFRA extracellular domain mutants
- Signaling by CSF3 (G-CSF)
- Signaling by CSF1 (M-CSF) in myeloid cells
- Inactivation of CSF3 (G-CSF) signaling
- SARS-CoV-2 activates/modulates innate and adaptive immune responses
- Signaling by ALK fusions and activated point mutants
- Growth hormone receptor signaling
- PKR-mediated signaling
- Turbulent (oscillatory, disturbed) flow shear stress activates signaling by PIEZO1 and integrins in endothelial cells
- Regulation of PD-L1(CD274) transcription
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- Chronic Mucocutaneous Candidiasis (CMC); Familial candidiasis (CANDF)
- IFN-gamma/IL-12 axis, including the following five diseases: IL-12 p40 subunit deficiency; IL-12 receptor (IL-12R) beta1 chain deficiency; IFN-gamma receptor (IFN gamma R) alpha chain deficiency; IFN-gamma receptor (IFN gamma R) beta chain deficiency; STAT-1 deficiency
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| Novel |
WDR75
|
WD repeat domain 75 |
- rRNA modification in the nucleus and cytosol
- Major pathway of rRNA processing in the nucleolus and cytosol
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ADIPOQ
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adiponectin, C1Q and collagen domain containing |
- AMPK inhibits chREBP transcriptional activation activity
- Transcriptional regulation of white adipocyte differentiation
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
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ALG8
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ALG8 alpha-1,3-glucosyltransferase |
- Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein
- Defective ALG8 causes CDG-1h
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- Congenital disorders of glycosylation (CDG) type I
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APH1A
|
aph-1A gamma-secretase subunit |
- Nuclear signaling by ERBB4
- Regulated proteolysis of p75NTR
- NRIF signals cell death from the nucleus
- Activated NOTCH1 Transmits Signal to the Nucleus
- Constitutive Signaling by NOTCH1 PEST Domain Mutants
- Constitutive Signaling by NOTCH1 HD+PEST Domain Mutants
- NOTCH2 Activation and Transmission of Signal to the Nucleus
- EPH-ephrin mediated repulsion of cells
- NOTCH3 Activation and Transmission of Signal to the Nucleus
- NOTCH4 Activation and Transmission of Signal to the Nucleus
- Noncanonical activation of NOTCH3
- Amyloid fiber formation
- TGFBR3 PTM regulation
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APOL3
|
apolipoprotein L3 |
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AQP7
|
aquaporin 7 |
- Transport of glycerol from adipocytes to the liver by Aquaporins
- Passive transport by Aquaporins
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C19orf18
|
chromosome 19 open reading frame 18 |
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CD79A
|
CD79a molecule |
- CD22 mediated BCR regulation
- Potential therapeutics for SARS
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
- Antigen activates B Cell Receptor (BCR) leading to generation of second messengers
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- Agammaglobulinemias, including the following six diseases: X-linked agammaglobulinemia (Bruton's agammaglobulinemia, XLA); IgM heavy chain gene deletions; Ig-alpha defect; Autosomal recessive agammaglobulinaemia; B cell-linker protein (BLNK) deficiency; Leucine-rich repeat-containing 8
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CYB5R3
|
cytochrome b5 reductase 3 |
- Vitamin C (ascorbate) metabolism
- Phase I - Functionalization of compounds
- Neutrophil degranulation
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- NADH
- Flavin adenine dinucleotide
- Copper
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EBP
|
EBP cholestenol delta-isomerase |
- Cholesterol biosynthesis via desmosterol
- Cholesterol biosynthesis via lathosterol
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ERGIC3
|
ERGIC and golgi 3 |
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FAM209A
|
family with sequence similarity 209 member A |
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GJA8
|
gap junction protein alpha 8 |
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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
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- Deafness, autosomal recessive
- Keratitis-ichthyosis-deafness syndrome
- Vohwinkel syndrome, including: Vohwinkel syndrome (VS); Vohwinkel syndrome with ichthyosis
- Deafness, autosomal dominant
- Palmoplantar keratoderma with deafness
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