Novel |
CFAP119 |
cilia and flagella associated protein 119 |
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Novel |
CLEC4A |
C-type lectin domain family 4 member A |
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Novel |
LIMS1 |
LIM zinc finger domain containing 1 |
- Cell-extracellular matrix interactions
- Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
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Novel |
NFATC2IP |
nuclear factor of activated T cells 2 interacting protein |
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Novel |
ORAI3 |
ORAI calcium release-activated calcium modulator 3 |
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Novel |
PRRT2 |
proline rich transmembrane protein 2 |
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Novel |
RABEP2 |
rabaptin, RAB GTPase binding effector protein 2 |
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Novel |
SLC7A5P1 |
solute carrier family 7 member 5 pseudogene 1 |
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Novel |
SRY |
sex determining region Y |
- Deactivation of the beta-catenin transactivating complex
- Transcriptional regulation of testis differentiation
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- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- 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 |
SSTR5 |
somatostatin receptor 5 |
- Peptide ligand-binding receptors
- G alpha (i) signalling events
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- Vapreotide
- Pasireotide
- Lanreotide
- Somatostatin
- Lutetium Lu 177 dotatate
- Edotreotide gallium Ga-68
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Novel |
ZNF764 |
zinc finger protein 764 |
- Generic Transcription Pathway
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ATM |
ATM serine/threonine kinase |
- DNA Damage/Telomere Stress Induced Senescence
- Regulation of HSF1-mediated heat shock response
- Autodegradation of the E3 ubiquitin ligase COP1
- HDR through Single Strand Annealing (SSA)
- HDR through Homologous Recombination (HRR)
- Sensing of DNA Double Strand Breaks
- Resolution of D-loop Structures through Synthesis-Dependent Strand Annealing (SDSA)
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Resolution of D-loop Structures through Holliday Junction Intermediates
- Nonhomologous End-Joining (NHEJ)
- Homologous DNA Pairing and Strand Exchange
- Processing of DNA double-strand break ends
- Presynaptic phase of homologous DNA pairing and strand exchange
- TP53 Regulates Transcription of DNA Repair Genes
- TP53 Regulates Transcription of Genes Involved in Cytochrome C Release
- TP53 Regulates Transcription of Caspase Activators and Caspases
- Regulation of TP53 Activity through Phosphorylation
- Regulation of TP53 Degradation
- Regulation of TP53 Activity through Methylation
- G2/M DNA damage checkpoint
- Stabilization of p53
- Meiotic recombination
- Pexophagy
- Defective homologous recombination repair (HRR) due to BRCA1 loss of function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA1 binding function
- Defective HDR through Homologous Recombination Repair (HRR) due to PALB2 loss of BRCA2/RAD51/RAD51C binding function
- Impaired BRCA2 binding to RAD51
- Impaired BRCA2 binding to PALB2
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- Ataxia telangiectasia (AT); Louis-Bar syndrome; Boder-Sedgwick syndrome
- Chronic lymphocytic leukemia (CLL)
- Ataxia with ocular apraxia (AOA), including: Ataxia telangiectasia (AT); Ataxia telangiectasia like disorder (ATLD); Ataxia oculomotor apraxia type 1 (AOA1); Ataxia oculomotor apraxia type 2 (AOA2)
- DNA repair defects, including the following six diseases: Ataxia telangiectasia (AT); Ataxia-talangiectasia-like syndrome; Nijmegen syndrome; DNA ligase I deficiency; DNA ligase IV deficiency; Bloom's syndrome
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BAZ1B |
bromodomain adjacent to zinc finger domain 1B |
- B-WICH complex positively regulates rRNA expression
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
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BAZ2A |
bromodomain adjacent to zinc finger domain 2A |
- NoRC negatively regulates rRNA expression
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CEBPA |
CCAAT enhancer binding protein alpha |
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of white adipocyte differentiation
- Transcriptional regulation of granulopoiesis
- Transcriptional regulation of granulopoiesis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
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- Acute myeloid leukemia (AML)
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FOXP3 |
forkhead box P3 |
- RUNX1 and FOXP3 control the development of regulatory T lymphocytes (Tregs)
- RUNX1 regulates transcription of genes involved in WNT signaling
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- Permanent neonatal diabetes mellitus (PNDM)
- Other well-defined immunodeficiency syndromes, including the following seven diseases: Wiskott-Aldrich syndrome; DiGeorge syndrome; Hyper-IgE syndrome; X-linked lymphoproliferative syndrome; Immunodeficiency, Polyendocrinopathy, Enteropathy, X-linked Syndrome (IPEX); Cartilage-Hair Hypoplasia; Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED)
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H2AC8 |
H2A clustered histone 8 |
- 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
- HDACs deacetylate histones
- HATs acetylate histones
- HATs acetylate histones
- 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
- UCH proteinases
- Ub-specific processing proteases
- Metalloprotease DUBs
- Deposition of new CENPA-containing nucleosomes at the centromere
- Assembly of the ORC complex at the origin of replication
- 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
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Inhibition of DNA recombination at telomere
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
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H3C1 |
H3 clustered histone 1 |
- Interleukin-7 signaling
- Interleukin-7 signaling
- Pre-NOTCH Transcription and Translation
- 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)
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- HDMs demethylate histones
- HATs acetylate histones
- HATs acetylate histones
- RMTs methylate histone arginines
- Chromatin modifying enzymes
- 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
- Assembly of the ORC complex at the origin of replication
- 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
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- Factors involved in megakaryocyte development and platelet production
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
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H4C1 |
H4 clustered histone 1 |
- 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
- HDACs deacetylate histones
- PKMTs methylate histone lysines
- HDMs demethylate histones
- HATs acetylate histones
- HATs acetylate histones
- 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
- SUMOylation of chromatin organization proteins
- 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
- Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
- Nonhomologous End-Joining (NHEJ)
- Processing of DNA double-strand break ends
- Deposition of new CENPA-containing nucleosomes at the centromere
- Assembly of the ORC complex at the origin of replication
- G2/M DNA damage checkpoint
- 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
- HCMV Early Events
- HCMV Late Events
- Transcriptional regulation of granulopoiesis
- Inhibition of DNA recombination at telomere
- Defective pyroptosis
- Negative Regulation of CDH1 Gene Transcription
- Amyloid fiber formation
- Chromatin modifications during the maternal to zygotic transition (MZT)
- Replacement of protamines by nucleosomes in the male pronucleus
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- MLL4 and MLL3 complexes regulate expression of PPARG target genes in adipogenesis and hepatic steatosis
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by KRAB-ZFP proteins
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by the Human Silencing Hub (HUSH) complex
- Regulation of endogenous retroelements by Piwi-interacting RNAs (piRNAs)
- Regulation of PD-L1(CD274) transcription
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H4C7 |
H4 clustered histone 7 |
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