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PAX6 |
paired box 6 |
- Regulation of gene expression in beta cells
- Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)
- Synthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- Formation of the anterior neural plate
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- Ocular coloboma, including: Coloboma of iris choroid and retina (COI); Coloboma of optic nerve (COLON)
- Aniridia
- Polymicrogyria; Bilateral frontal polymicrogyria (BFP); Bilateral frontoparietal polymicrogyria (BFPP); Bilateral perisylvian polymicrogyria (BPP); Bilateral parasagittal parieto-occipital polymicrogyria (BPOP); Bilateral generalised polymicrogyria (BGP); Unilateral Polymicrogyria (ULP)
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PAX7 |
paired box 7 |
- Specification of the neural plate border
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- Alveolar rhabdomyosarcoma
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PAX8 |
paired box 8 |
- Formation of intermediate mesoderm
- Formation of the nephric duct
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- Congenital nongoitrous hypothyroidism (CHNG)
- Thyroid cancer
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POU6F2 |
POU class 6 homeobox 2 |
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PRDM1 |
PR/SET domain 1 |
- Regulation of TP53 Expression
- STAT3 nuclear events downstream of ALK signaling
- Specification of primordial germ cells
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SOX10 |
SRY-box transcription factor 10 |
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- EGR2 and SOX10-mediated initiation of Schwann cell myelination
- Regulation of CDH19 Expression and Function
- Regulation of MITF-M-dependent genes involved in pigmentation
- Transcriptional and post-translational regulation of MITF-M expression and activity
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- Waardenburg syndrome (WS)
- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
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SOX15 |
SRY-box transcription factor 15 |
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SOX17 |
SRY-box transcription factor 17 |
- Deactivation of the beta-catenin transactivating complex
- Formation of definitive endoderm
- Specification of primordial germ cells
- Developmental Lineage of Multipotent Pancreatic Progenitor Cells
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SOX2 |
SRY-box transcription factor 2 |
- POU5F1 (OCT4), SOX2, NANOG repress genes related to differentiation
- POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation
- Deactivation of the beta-catenin transactivating complex
- Transcriptional regulation of pluripotent stem cells
- Interleukin-4 and Interleukin-13 signaling
- Transcriptional Regulation by MECP2
- Germ layer formation at gastrulation
- Formation of the anterior neural plate
- Formation of the anterior neural plate
- Formation of the posterior neural plate
- Formation of the posterior neural plate
- Specification of the neural plate border
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Regulation of MITF-M-dependent genes involved in extracellular matrix, focal adhesion and epithelial-to-mesenchymal transition
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- Anophthalmia and microphthalmia (A/M)
- Septo-optic dysplasia
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SOX5 |
SRY-box transcription factor 5 |
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SOX6 |
SRY-box transcription factor 6 |
- Deactivation of the beta-catenin transactivating complex
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SOX9 |
SRY-box transcription factor 9 |
- Deactivation of the beta-catenin transactivating complex
- Transcriptional regulation by RUNX2
- Transcriptional regulation of testis differentiation
- Transcriptional and post-translational regulation of MITF-M expression and activity
- Developmental Lineage of Pancreatic Acinar Cells
- Developmental Lineage of Pancreatic Ductal Cells
- Developmental Lineage of Multipotent Pancreatic Progenitor Cells
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- 46,XX disorders of sex development (Disorders of gonadal development), including: Ovotesticular DSD; Testicular DSD; Ovarian dysgenesis
- Campomelic dysplasia (CD)
- 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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SP7 |
Sp7 transcription factor |
- RUNX2 regulates osteoblast differentiation
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TBR1 |
T-box brain transcription factor 1 |
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TLX2 |
T cell leukemia homeobox 2 |
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TLX3 |
T cell leukemia homeobox 3 |
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- Acute lymphoblastic leukemia (ALL) (precursor T lymphoblastic leukemia)
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UFSP1 |
UFM1 specific peptidase 1 |
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USP54 |
ubiquitin specific peptidase 54 |
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VAC14 |
VAC14 component of PIKFYVE complex |
- Synthesis of PIPs at the Golgi membrane
- Synthesis of PIPs at the Golgi membrane
- Synthesis of PIPs at the early endosome membrane
- Synthesis of PIPs at the early endosome membrane
- Synthesis of PIPs at the late endosome membrane
- Synthesis of PIPs at the late endosome membrane
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YY1 |
YY1 transcription factor |
- Activation of anterior HOX genes in hindbrain development during early embryogenesis
- UCH proteinases
- DNA Damage Recognition in GG-NER
- TFAP2 (AP-2) family regulates transcription of growth factors and their receptors
- Estrogen-dependent gene expression
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