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Novel |
ABCA4 |
ATP binding cassette subfamily A member 4 |
- Retinoid cycle disease events
- The canonical retinoid cycle in rods (twilight vision)
- The canonical retinoid cycle in rods (twilight vision)
- ABC-family proteins mediated transport
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- Macular degeneration, including: Age-related macular degeneration (ARMD); Patterned dystrophy of retinal pigment epithelium (PDREP); Retinal macular dystrophy 2 (MCDR2); X-linked atrophic macular degeneration (MDXLA)
- Cone-rod dystrophy and cone dystrophy, including: Cone-rod dystrophy (CORD); Cone dystrophy (COD); Retinal cone dystrophy (RCD)
- Stargardt disease (STGD); Fundus flavimaculatus
- Retinitis pigmentosa (RP)
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Novel |
ASH2L |
ASH2 like, histone lysine methyltransferase complex subunit |
- Formation of the beta-catenin:TCF transactivating complex
- PKMTs methylate histone lysines
- Deactivation of the beta-catenin transactivating complex
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
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Novel |
ATRX |
ATRX chromatin remodeler |
- Inhibition of DNA recombination at telomere
- Defective Inhibition of DNA Recombination at Telomere Due to DAXX Mutations
- Defective Inhibition of DNA Recombination at Telomere Due to ATRX Mutations
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- Syndromic X-linked mental retardation with epilepsy or seizures, including: West syndrome (WS); Partington syndrome (PRTS); Proud syndrome (ACCAG); XMR and epilepsy (XMRE); MRXHF1; XMR OPHN1-related (MRXSO) ; XELBD; XMR, Christianson type (MRXSC); Creatine deficiency syndrome (XL-CDS); Renpenning syndrome (RENS1); Epilepsy and mental retardation limited to females (EFMR); Periventricular nodular heterotopia (PVNH); Hydrocephalus (XLH); XMR, JARID1C related (MRXSJ); Boerjeson-Forssman syndrome (BFLS); CK syndrome (CKS)
- Thalassemia; Alpha thalassemia; Beta thalassemia; Alpha thalassemia, X-linked (ATRX)
- Non-syndromic X-linked mental retardation
- 46,XY disorders of sex development (Disorders of gonadal development), including: Gonadal agenesis; Complete and partial gonadal dysgenesis; Testis regression; Ovotesticular DSD
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Novel |
DUSP4 |
dual specificity phosphatase 4 |
- RAF-independent MAPK1/3 activation
- ERKs are inactivated
- Negative regulation of MAPK pathway
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Novel |
LYPD3 |
LY6/PLAUR domain containing 3 |
- Post-translational modification: synthesis of GPI-anchored proteins
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Novel |
PPFIA3 |
PTPRF interacting protein alpha 3 |
- Serotonin Neurotransmitter Release Cycle
- Norepinephrine Neurotransmitter Release Cycle
- Glutamate Neurotransmitter Release Cycle
- Dopamine Neurotransmitter Release Cycle
- Acetylcholine Neurotransmitter Release Cycle
- Receptor-type tyrosine-protein phosphatases
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Novel |
PRKD2 |
protein kinase D2 |
- Sphingolipid de novo biosynthesis
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Novel |
TRIM29 |
tripartite motif containing 29 |
- Interferon gamma signaling
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Novel |
ZNF229 |
zinc finger protein 229 |
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ATXN1 |
ataxin 1 |
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- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
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CASP8 |
caspase 8 |
- Apoptotic cleavage of cellular proteins
- Caspase activation via Death Receptors in the presence of ligand
- NOD1/2 Signaling Pathway
- TRIF-mediated programmed cell death
- Caspase-mediated cleavage of cytoskeletal proteins
- Regulation by c-FLIP
- RIPK1-mediated regulated necrosis
- CASP8 activity is inhibited
- TNFR1-induced proapoptotic signaling
- Regulation of TNFR1 signaling
- CLEC7A/inflammasome pathway
- Regulation of necroptotic cell death
- Dimerization of procaspase-8
- Activation, myristolyation of BID and translocation to mitochondria
- Apoptotic execution phase
- FasL/ CD95L signaling
- TRAIL signaling
- TLR3-mediated TICAM1-dependent programmed cell death
- NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10
- Microbial modulation of RIPK1-mediated regulated necrosis
- Defective RIPK1-mediated regulated necrosis
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- Autoimmune lymphoproliferative syndromes (ALPS), including the following five diseases: CD95 (Fas) defect, ALPS type 1a; CD95L (Fas ligand) defect, ALPS type 1b; Caspase 10 defect, ALPS type 2a; Caspase 8 defext, ALPS type 2b; Activaing N-Ras defect, N-Ras ALPS
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