Novel |
CCDC88C |
coiled-coil and HOOK domain protein 88C |
- Negative regulation of TCF-dependent signaling by DVL-interacting proteins
|
|
|
Novel |
CKAP2 |
cytoskeleton associated protein 2 |
|
|
|
Novel |
DNASE1 |
deoxyribonuclease 1 |
|
|
|
Novel |
GTF2F2 |
general transcription factor IIF subunit 2 |
- Formation of RNA Pol II elongation complex
- Formation of the Early Elongation Complex
- Formation of HIV elongation complex in the absence of HIV Tat
- Formation of the HIV-1 Early Elongation Complex
- RNA Pol II CTD phosphorylation and interaction with CE during HIV infection
- HIV Transcription Initiation
- RNA Polymerase II HIV Promoter Escape
- Transcription of the HIV genome
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Formation of HIV-1 elongation complex containing HIV-1 Tat
- Pausing and recovery of Tat-mediated HIV elongation
- Abortive elongation of HIV-1 transcript in the absence of Tat
- Tat-mediated HIV elongation arrest and recovery
- Tat-mediated elongation of the HIV-1 transcript
- HIV elongation arrest and recovery
- Pausing and recovery of HIV elongation
- Viral Messenger RNA Synthesis
- RNA Polymerase II Pre-transcription Events
- TP53 Regulates Transcription of DNA Repair Genes
- FGFR2 alternative splicing
- RNA polymerase II transcribes snRNA genes
- RNA polymerase II transcribes snRNA genes
- mRNA Capping
- mRNA Splicing - Major Pathway
- mRNA Splicing - Minor Pathway
- Processing of Capped Intron-Containing Pre-mRNA
- RNA Polymerase II Promoter Escape
- RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
- RNA Polymerase II Transcription Initiation
- RNA Polymerase II Transcription Elongation
- RNA Polymerase II Transcription Initiation And Promoter Clearance
- RNA Pol II CTD phosphorylation and interaction with CE
- Signaling by FGFR2 IIIa TM
- Estrogen-dependent gene expression
|
|
|
Novel |
LPAR6 |
lysophosphatidic acid receptor 6 |
- G alpha (q) signalling events
- P2Y receptors
|
|
- Localized autosomal recessive hypotrichosis
- Woolly hair, including: Autosomal-dominant woolly hair (ADWH); Autosomal-recessive woolly hair (ARWH); Autosomal-recessive woolly hair with or without hypotrichosis
|
Novel |
RFXAP |
regulatory factor X associated protein |
|
|
- Combined immunodeficiencies (CIDs), including the following nine diseases: X-linked hyper IgM syndrome; CD40 deficiency hyper IgM syndrome; Purine nucleoside phosphorylase (PNP) deficiency; Omenn syndrome; MHC deficiency (HLA-class I); MHC deficiency (HLA-class II); Zap-70 deficiency; p56 Lck deficiency; CD8 deficiency
- Bare lymphocyte syndrome (BLS) type2
|
|
A2M |
alpha-2-macroglobulin |
- Platelet degranulation
- Intrinsic Pathway of Fibrin Clot Formation
- Degradation of the extracellular matrix
- HDL assembly
|
- Becaplermin
- Cisplatin
- Bacitracin
- Zinc
- Ocriplasmin
- Silver
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
|
|
|
APLP1 |
amyloid beta precursor like protein 1 |
|
- Zinc
- Copper
- Zinc acetate
- Zinc chloride
- Zinc sulfate, unspecified form
|
|
|
ASAH1 |
N-acylsphingosine amidohydrolase 1 |
- Neutrophil degranulation
- Glycosphingolipid catabolism
- Regulation of MITF-M-dependent genes involved in lysosome biogenesis and autophagy
|
|
- Farber lipogranulomatosis; Farber disease
|
|
CACNA1A |
calcium voltage-gated channel subunit alpha1 A |
- Presynaptic depolarization and calcium channel opening
- Regulation of insulin secretion
|
- Ergocalciferol
- Enflurane
- Phenytoin
- Spironolactone
- Nicardipine
- Magnesium sulfate
- Verapamil
- Verapamil
- Levomenthol
- Loperamide
- Nitrendipine
- Bepridil
- Ziconotide
- Dotarizine
- Drotaverine
- Trimebutine
- Benidipine
- Cilnidipine
- Efonidipine
- Lacidipine
- Manidipine
- Butamben
- Bioallethrin
- Bioallethrin
- Bioallethrin
|
- Spinocerebellar ataxia (SCA); Machado-Joseph disease (SCA3)
- Episodic ataxias
- Familial or sporadic hemiplegic migraine
|
|
CARHSP1 |
calcium regulated heat stable protein 1 |
|
|
|
|
CCDC90B |
coiled-coil domain containing 90B |
|
|
|
|
CFTR |
CF transmembrane conductance regulator |
- ABC-family proteins mediated transport
- RHO GTPases regulate CFTR trafficking
- Defective CFTR causes cystic fibrosis
- Ub-specific processing proteases
- Cargo recognition for clathrin-mediated endocytosis
- Clathrin-mediated endocytosis
- RHOQ GTPase cycle
- Chaperone Mediated Autophagy
- Late endosomal microautophagy
- Aggrephagy
- Aggrephagy
- Developmental Lineage of Pancreatic Ductal Cells
|
- ATP
- Bumetanide
- Glyburide
- Ibuprofen
- Genistein
- Colforsin
- Phosphoaminophosphonic Acid-Adenylate Ester
- Dexfosfoserine
- Crofelemer
- Lonidamine
- Ivacaftor
- Dexibuprofen
- Lumacaftor
- Tezacaftor
- Elexacaftor
|
- Hereditary pancreatitis; Hereditary chronic pancreatitis
- Cystic fibrosis (CF)
- Congenital bilateral absence of vas deferens
|
|
CHD3 |
chromodomain helicase DNA binding protein 3 |
- HDACs deacetylate histones
- ERCC6 (CSB) and EHMT2 (G9a) positively regulate rRNA expression
- SUMOylation of chromatin organization proteins
- Regulation of TP53 Activity through Acetylation
- RNA Polymerase I Transcription Initiation
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Potential therapeutics for SARS
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Transcriptional regulation of brown and beige adipocyte differentiation by EBF2
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
|
|
|
|
CORO2B |
coronin 2B |
|
|
|
|
CRMP1 |
collapsin response mediator protein 1 |
- CRMPs in Sema3A signaling
|
|
|
|
DDAH2 |
DDAH family member 2, ADMA-independent |
|
|
|
|
DNMT3B |
DNA methyltransferase 3 beta |
- PRC2 methylates histones and DNA
- NoRC negatively regulates rRNA expression
- SUMOylation of DNA methylation proteins
- DNA methylation
- Defective pyroptosis
|
|
- Other humoral immunodeficiencies, including the following three diseases: Immunodeficiency, centromeric instability, facial anomalies (ICF)-syndrome; kappa light-chain deficiency; Ig heavy chain gene deletions
|
|
EED |
embryonic ectoderm development |
- PRC2 methylates histones and DNA
- Oxidative Stress Induced Senescence
- PKMTs methylate histone lysines
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Regulation of PTEN gene transcription
- Regulation of PTEN gene transcription
- Transcriptional Regulation by E2F6
- HCMV Early Events
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Regulation of PD-L1(CD274) transcription
|
|
|
|
ERG28 |
ergosterol biosynthesis 28 homolog |
|
|
|