| ADK |
adenosine kinase |
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- Adenosine monophosphate
- Ribavirin
- 7-(5-DEOXY-BETA-D-RIBOFURANOSYL)-5-IODO-7H-PYRROLO[2,3-D]PYRIMIDIN-4-AMINE
- 5-[4-(DIMETHYLAMINO)PHENYL]-6-[(6-MORPHOLIN-4-YLPYRIDIN-3-YL)ETHYNYL]PYRIMIDIN-4-AMINE
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| ARHGEF9 |
Cdc42 guanine nucleotide exchange factor 9 |
- NRAGE signals death through JNK
- Rho GTPase cycle
- G alpha (12/13) signalling events
- GABA receptor activation
- GABA receptor activation
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- Hyperekplexia
- Early infantile epileptic encephalopathy; Ohtahara syndrome
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| BET1 |
Bet1 golgi vesicular membrane trafficking protein |
- COPII-mediated vesicle transport
- COPI-mediated anterograde transport
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| BLOC1S6 |
biogenesis of lysosomal organelles complex 1 subunit 6 |
- Golgi Associated Vesicle Biogenesis
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| CCDC186 |
coiled-coil domain containing 186 |
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| CCDC88B |
coiled-coil domain containing 88B |
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| CCDC92 |
coiled-coil domain containing 92 |
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| CEP250 |
centrosomal protein 250 |
- 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
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| CEP350 |
centrosomal protein 350 |
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| DES |
desmin |
- Striated Muscle Contraction
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- Distal muscular dystrophies, including: Welander distal myopathy (WDM); Tibial muscular dystrophy (TMD); Nonaka distal myopathy with rimmed vacuoles (DMRV); Miyoshi myopathy (MM); Laing myopathy (MPD1); Distal nebulin myopathy (DNM); Distal desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Distal myotilinopathy (MFM3); Distal zaspopathy (MFM4); Distal myopathy 3 (MPD2, VCPDM)
- Myofibrillar myopathies (MFM), including: Desminopathy (MFM1); alpha-B Crystallinopathy (MFM2); Myotilinopathy (MFM3); Zaspopathy (MFM4); Filaminopathy (MFM5); Bag3opathy
- Scapuloperoneal myopathy (SPM)
- Dilated cardiomyopathy (DCM)
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| EVPL |
envoplakin |
- Formation of the cornified envelope
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| EXTL3 |
exostosin like glycosyltransferase 3 |
- XBP1(S) activates chaperone genes
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| H2AJ |
H2A.J histone |
- Recognition and association of DNA glycosylase with site containing an affected pyrimidine
- Cleavage of the damaged pyrimidine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Recognition and association of DNA glycosylase with site containing an affected purine
- Cleavage of the damaged purine
- Cleavage of the damaged purine
- Meiotic synapsis
- Packaging Of Telomere Ends
- Pre-NOTCH Transcription and Translation
- Formation of the beta-catenin:TCF transactivating complex
- Formation of the beta-catenin:TCF transactivating complex
- PRC2 methylates histones and DNA
- Condensation of Prophase Chromosomes
- Oxidative Stress Induced Senescence
- Senescence-Associated Secretory Phenotype (SASP)
- DNA Damage/Telomere Stress Induced Senescence
- RMTs methylate histone arginines
- SIRT1 negatively regulates rRNA expression
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- NoRC negatively regulates rRNA expression
- NoRC negatively regulates rRNA expression
- B-WICH complex positively regulates rRNA expression
- DNA methylation
- Transcriptional regulation by small RNAs
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Activated PKN1 stimulates transcription of AR (androgen receptor) regulated genes KLK2 and KLK3
- Deposition of new CENPA-containing nucleosomes at the centromere
- RNA Polymerase I Promoter Opening
- RNA Polymerase I Promoter Escape
- RUNX1 regulates genes involved in megakaryocyte differentiation and platelet function
- RUNX1 regulates transcription of genes involved in differentiation of HSCs
- Estrogen-dependent gene expression
- Meiotic recombination
- Transcriptional regulation of granulopoiesis
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| KANSL1 |
KAT8 regulatory NSL complex subunit 1 |
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| KIF3A |
kinesin family member 3A |
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- MHC class II antigen presentation
- Hedgehog 'off' state
- Intraflagellar transport
- Activation of SMO
- Activation of SMO
- COPI-dependent Golgi-to-ER retrograde traffic
- Kinesins
- Kinesins
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| KRT19 |
keratin 19 |
- Keratinization
- Formation of the cornified envelope
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| KRT20 |
keratin 20 |
- Keratinization
- Formation of the cornified envelope
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| KTN1 |
kinectin 1 |
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- RHO GTPases activate KTN1
- Post-translational protein phosphorylation
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| LAMB2 |
laminin subunit beta 2 |
- Laminin interactions
- Laminin interactions
- Non-integrin membrane-ECM interactions
- ECM proteoglycans
- Regulation of Insulin-like Growth Factor (IGF) transport and uptake by Insulin-like Growth Factor Binding Proteins (IGFBPs)
- MET activates PTK2 signaling
- Post-translational protein phosphorylation
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| LSM4 |
LSM4 homolog, U6 small nuclear RNA and mRNA degradation associated |
- mRNA decay by 5' to 3' exoribonuclease
- mRNA decay by 5' to 3' exoribonuclease
- mRNA Splicing - Major Pathway
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| MAX |
MYC associated factor X |
- Transcription of E2F targets under negative control by DREAM complex
- Cyclin E associated events during G1/S transition
- Cyclin A:Cdk2-associated events at S phase entry
- Transcriptional Regulation by E2F6
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| PDZD11 |
PDZ domain containing 11 |
- Biotin transport and metabolism
- Vitamin B5 (pantothenate) metabolism
- Transport of vitamins, nucleosides, and related molecules
- Ion influx/efflux at host-pathogen interface
- Ion transport by P-type ATPases
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| PLEC |
plectin |
- Assembly of collagen fibrils and other multimeric structures
- Caspase-mediated cleavage of cytoskeletal proteins
- Type I hemidesmosome assembly
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- Congenital muscular dystrophies (CMD/MDC), including: Merosin-deficient CMD (MDC1A); Ullrich CMD (UCMD); Integrin alpha7-deficient CMD; CMD with joint hyperlaxity (CMDH); CMD with epidermolysis bullosa; Walker-Warburg syndrome (WWS); Muscle-eye-brain disease (MEB); Fukuyama CMD (FCMD); CMD with muscle hypertrophy (MDC1C); CMD with severe intellectual impairment and abnormal glycosylation (MDC1D); Rigid spine syndrome (RSS); LMNA-deficient CMD; CMD with respiratory failure and muscle hypertrophy (MDC1B); Bethlem myopathy
- Epidermolysis bullosa, hemidesmosomal, including: Epidermolysis bullosa, generalized atrophic benign (GABEB); Epidermolysis bullosa simplex with pyloric atresia (EBS-PA); Epidermolysis bullosa simplex with muscular dystrophy (EBS-MD); Epidermolysis bullosa simplex, Ogna type (EBS-Ogna)
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| PLEKHA6 |
pleckstrin homology domain containing A6 |
- Synthesis of PIPs at the plasma membrane
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| PPP1R13B |
protein phosphatase 1 regulatory subunit 13B |
- Activation of PUMA and translocation to mitochondria
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain
- TP53 Regulates Transcription of Death Receptors and Ligands
- Regulation of TP53 Activity through Association with Co-factors
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| PROM1 |
prominin 1 |
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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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| RECQL |
RecQ like helicase |
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| SH3BP5L |
SH3 binding domain protein 5 like |
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| SOGA1 |
suppressor of glucose, autophagy associated 1 |
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| SPIRE1 |
spire type actin nucleation factor 1 |
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| SPTAN1 |
spectrin alpha, non-erythrocytic 1 |
- Caspase-mediated cleavage of cytoskeletal proteins
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- RAF/MAP kinase cascade
- Neutrophil degranulation
- COPI-mediated anterograde transport
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- Early infantile epileptic encephalopathy; Ohtahara syndrome
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| SPTBN1 |
spectrin beta, non-erythrocytic 1 |
- Nephrin family interactions
- NCAM signaling for neurite out-growth
- NCAM signaling for neurite out-growth
- Interaction between L1 and Ankyrins
- Interaction between L1 and Ankyrins
- RAF/MAP kinase cascade
- COPI-mediated anterograde transport
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- Calcium
- 1D-myo-inositol 1,4,5-trisphosphate
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| SRPK2 |
SRSF protein kinase 2 |
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- Adenine
- Purvalanol
- Phosphoaminophosphonic Acid-Adenylate Ester
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| UPF1 |
UPF1 RNA helicase and ATPase |
- Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
- Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC)
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| WASH2P |
WASP family homolog 2, pseudogene |
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| YWHAG |
tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma |
- Activation of BAD and translocation to mitochondria
- Translocation of SLC2A4 (GLUT4) to the plasma membrane
- 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
- RHO GTPases activate PKNs
- TP53 Regulates Metabolic Genes
- Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex
- AURKA Activation by TPX2
- Regulation of localization of FOXO transcription factors
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