{
"uniprot_canonical_ac": "P11161-1",
"uniprot_ac": "P11161",
"uniprot_id": "EGR2_HUMAN",
"mass": {
"chemical_mass": 50302.0,
"monoisotopic_mass": 50302.0
},
"refseq": {
"ac": "NP_000390",
"name": "E3 SUMO-protein ligase EGR2 isoform a",
"summary": "The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
},
"gene_names": [
{
"name": "EGR2",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/P11161",
"id": "P11161"
},
{
"name": "AT591; CMT1D; CMT4E; KROX20",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390",
"id": "NP_000390"
},
{
"name": "EGR2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390",
"id": "NP_000390"
},
{
"name": "KROX20",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/P11161",
"id": "P11161"
}
],
"protein_names": [
{
"name": "E3 SUMO-protein ligase EGR2",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "P11161"
},
{
"name": "2.3.2.-",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
},
{
"name": "AT591",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
},
{
"name": "E3 SUMO-protein ligase EGR2 isoform a",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390",
"id": "NP_000390"
},
{
"name": "E3 SUMO-protein transferase ERG2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
},
{
"name": "EGR-2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
},
{
"name": "Early growth response protein 2",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
},
{
"name": "KROX-20, Drosophila, homolog (early growth response-2); early growth response protein 2; zinc finger protein Krox-20; E3 SUMO-protein ligase EGR2; E3 SUMO-protein transferase ERG2",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390",
"id": "NP_000390"
},
{
"name": "Zinc finger protein Krox-20",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "P11161"
}
],
"function": [
{
"annotation": "E3 SUMO-protein ligase helping SUMO1 conjugation to its coregulators NAB1 and NAB2, whose sumoylation down-regulates EGR2 transcriptional activity.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161#function"
},
{
"database": "PubMed",
"id": "21836637",
"url": "https://glygen.org/publication/PubMed/21836637"
},
{
"database": "UniProtKB",
"id": "A0A8I5KYI5",
"url": "https://www.uniprot.org/uniprot/A0A8I5KYI5#function"
},
{
"database": "UniProtKB",
"id": "ARBA00037627",
"url": "https://www.uniprot.org/uniprot/ARBA00037627#function"
}
]
},
{
"annotation": "EGR2 drives TH17 cell pathogenicity in autoimmune neuroinflammation.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000390",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
},
{
"database": "PubMed",
"id": "37474655",
"url": "https://glygen.org/publication/PubMed/37474655"
}
]
},
{
"annotation": "EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000390",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
},
{
"database": "PubMed",
"id": "37306961",
"url": "https://glygen.org/publication/PubMed/37306961"
}
]
},
{
"annotation": "Sequence-specific DNA-binding transcription factor (PubMed:17717711). Plays a role in hindbrain segmentation by regulating the expression of a subset of homeobox containing genes and in Schwann cell myelination by regulating the expression of genes involved in the formation and maintenance of myelin (By similarity). Binds to two EGR2-consensus sites EGR2A (5'-CTGTAGGAG-3') and EGR2B (5'-ATGTAGGTG-3') in the HOXB3 enhancer and promotes HOXB3 transcriptional activation (By similarity). Binds to specific DNA sites located in the promoter region of HOXA4, HOXB2 and ERBB2 (By similarity). Regulates hindbrain segmentation by controlling the expression of Hox genes, such as HOXA4, HOXB3 and HOXB2, and thereby specifying odd and even rhombomeres (By similarity). Promotes the expression of HOXB3 in the rhombomere r5 in the hindbrain (By similarity). Regulates myelination in the peripheral nervous system after birth, possibly by regulating the expression of myelin proteins, such as MPZ, and by promoting the differentiation of Schwann cells (By similarity). Involved in the development of the jaw openener musculature, probably by playing a role in its innervation through trigeminal motor neurons (By similarity). May play a role in adipogenesis, possibly by regulating the expression of CEBPB (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161#function"
},
{
"database": "UniProtKB",
"id": "P08152",
"url": "https://www.uniprot.org/uniprot/P08152#function"
},
{
"database": "PubMed",
"id": "17717711",
"url": "https://glygen.org/publication/PubMed/17717711"
}
]
},
{
"annotation": "The protein encoded by this gene is a transcription factor with three tandem C2H2-type zinc fingers. Defects in this gene are associated with Charcot-Marie-Tooth disease type 1D (CMT1D), Charcot-Marie-Tooth disease type 4E (CMT4E), and with Dejerine-Sottas syndrome (DSS). Multiple transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Oct 2008].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000390",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
}
]
},
{
"annotation": "Transcription factor EGR2 controls homing and pathogenicity of TH17 cells in the central nervous system.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000390",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
},
{
"database": "PubMed",
"id": "37443284",
"url": "https://glygen.org/publication/PubMed/37443284"
}
]
},
{
"annotation": "Type I Interferon Signaling via the EGR2 Transcriptional Regulator Potentiates CAR T Cell-Intrinsic Dysfunction.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_000390",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_000390"
},
{
"database": "PubMed",
"id": "37011008",
"url": "https://glygen.org/publication/PubMed/37011008"
}
]
}
],
"disease": [
{
"disease_id": "DOID:0050540",
"recommended_name": {
"id": "DOID:0050540",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050540",
"name": "Charcot-Marie-Tooth disease type 3",
"description": "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination."
},
"synonyms": [
{
"id": "DOID:0050540",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050540",
"name": "DEJERINE-SOTTAS NEUROPATHY",
"description": ""
},
{
"id": "DOID:0050540",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0050540",
"name": "DEJERINE-SOTTAS SYNDROME",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "Charcot-Marie-Tooth disease type 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "CMT3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "Charcot-Marie-Tooth disease type 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "Charcot-Marie-Tooth disease, type 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "Dejerine-Sottas neuropathy",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "Dejerine-Sottas syndrome",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "HMSN 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "HMSN III",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "HMSN3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "dejerine-sottas disease",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "hereditary motor and sensory neuropathy type 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "hereditary motor and sensory neuropathy type III",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "hypertrophic neuropathy of Dejerine-Sottas",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "DSN",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "hereditary motor and sensory neuropathy 3",
"description": ""
},
{
"id": "MONDO:0007790",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007790",
"name": "hypertrophic neuropathy of infancy",
"description": ""
},
{
"id": "MIM:145900",
"resource": "MIM",
"url": "https://www.omim.org/entry/145900",
"name": "Dejerine-Sottas syndrome",
"description": "Dejerine-Sottas syndrome"
}
],
"evidence": [
{
"id": "145900",
"database": "MIM",
"url": "https://www.omim.org/entry/145900"
}
]
},
{
"disease_id": "DOID:0110150",
"recommended_name": {
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "Charcot-Marie-Tooth disease type 1D",
"description": "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2)."
},
"synonyms": [
{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "CMT1D",
"description": ""
},
{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "Charcot-Marie-Tooth neuropathy type 1D",
"description": ""
},
{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "HMSN ID",
"description": ""
},
{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "HMSN1D",
"description": ""
},
{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
"name": "hereditary motor and sensory neuropathy 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth disease type 1D",
"description": "A form of CMT1, caused by mutations in the EGR2 gene (10q21.1), with a variable severity and age of onset (from infancy to adulthood), that usually presents with gait abnormalities, progressive wasting and weakness of distal limb muscles, with possible later involvement of proximal muscles, foot deformity and severe reduction in nerve conduction velocity. Additional features may include scoliosis, cranial nerve deficits such as diplopia, and bilateral vocal cord paresis."
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "CMT1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth disease type 1 caused by mutation in EGR2",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth disease, type 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth neuropathy type 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "EGR2 Charcot-Marie-Tooth disease type 1",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "HMSN ID",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "HMSN1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "hereditary motor and sensory neuropathy 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "CMT 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot Marie Tooth disease type 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth disease, demyelinating, type 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "Charcot-Marie-Tooth neuropathy, type 1D",
"description": ""
},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
"name": "HMSN 1D",
"description": ""
},
{
"id": "MIM:607678",
"resource": "MIM",
"url": "https://www.omim.org/entry/607678",
"name": "Charcot-Marie-Tooth disease, demyelinating, 1D",
"description": "Charcot-Marie-Tooth disease, demyelinating, 1D"
}
],
"evidence": [
{
"id": "607678",
"database": "MIM",
"url": "https://www.omim.org/entry/607678"
}
]
},
{
"disease_id": "DOID:0110195",
"recommended_name": {
"id": "DOID:0110195",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110195",
"name": "Charcot-Marie-Tooth disease type 4E",
"description": "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23."
},
"synonyms": [
{
"id": "DOID:0110195",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110195",
"name": "CMT4E",
"description": ""
},
{
"id": "DOID:0110195",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110195",
"name": "Charcot-Marie-Tooth neuropathy type 4E",
"description": ""
},
{
"id": "DOID:0110195",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110195",
"name": "Neuropathy, congenital hypomyelinating, 1",
"description": ""
},
{
"id": "DOID:0110195",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110195",
"name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot-Marie-Tooth disease type 4E",
"description": "Charcot-Marie-Tooth disease type 4E (CMT4E) is a congenital, hypomyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by a Dejerine-Sottas syndrome-like phenotype (incl. hypotonia and/or delayed motor development in infancy), extremely slow nerve conduction velocities, potential respiratory dysfunction, cranial nerve involvement, and the typical CMT phenotype, i.e. distal muscle weakness and atrophy, sensory loss, and foot deformity."
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "CMT4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot-Marie-Tooth disease type 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot-Marie-Tooth neuropathy type 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "autosomal recessive congenital hypomyelinating neuropathy",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "autosomal recessive congenital hypomyelinating or amyelinating neuropathy",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "hypomyelinating neuropathy, congenital, 1",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "neuropathy, congenital hypomyelinating, 1",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "CHN",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "CHN1",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "CMT 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot Marie Tooth disease type 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot-Marie-Tooth disease, type 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "Charcot-Marie-Tooth neuropathy, type 4E",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "NEUROPATHY, CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "congenital hypomyelinating neuropathy (CHN)",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "congenital hypomyelination neuropathy",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "hypomyelination, Severe congenital",
"description": ""
},
{
"id": "MONDO:0011527",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011527",
"name": "neuropathy, congenital hypomyelinating",
"description": ""
},
{
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}
],
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],
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"end_pos": 387,
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"comment": "Germline mutation passed 1 out of 1 filters: o-glyco-site-loss (T->N).",
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{
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{
"id": "DOID:0110150",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0110150",
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},
{
"id": "DOID:0110150",
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{
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{
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{
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},
{
"id": "MONDO:0011890",
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},
{
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{
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{
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},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0011890",
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},
{
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{
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{
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},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
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},
{
"id": "MONDO:0011890",
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"url": "https://monarchinitiative.org/disease/MONDO:0011890",
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},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
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},
{
"id": "MONDO:0011890",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011890",
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},
{
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}
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},
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{
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"url": "https://www.ensembl.org/id/rs1564706036"
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],
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},
{
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"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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{
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{
"id": "DOID:1319",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1319",
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},
{
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{
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{
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{
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},
{
"id": "DOID:1319",
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"url": "http://disease-ontology.org/term/DOID:1319",
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},
{
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},
{
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"url": "http://disease-ontology.org/term/DOID:1319",
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},
{
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{
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{
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{
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{
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},
{
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},
{
"id": "DOID:363",
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},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
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{
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{
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]
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],
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},
{
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{
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},
{
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},
{
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{
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{
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{
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{
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{
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{
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{
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},
{
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{
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},
{
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},
{
"id": "MONDO:0013631",
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},
{
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},
{
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},
{
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"url": "https://monarchinitiative.org/disease/MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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"name": "lung cancer",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
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},
{
"id": "MONDO:0008903",
"resource": "MONDO",
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{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
],
"keywords": [
"biomuta",
"somatic",
"cancer",
"disease"
]
}
],
"mutagenesis": [
{
"start_pos": 162,
"end_pos": 165,
"sequence_org": "DHLY",
"sequence_mut": "AAAA",
"comment": "Inhibits association with HCFC1.",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
},
{
"database": "PubMed",
"id": "14532282",
"url": "https://glygen.org/publication/PubMed/14532282"
}
]
}
],
"expression_tissue": [
{
"tissue": {
"name": "Adult mammalian kidney",
"namespace": "UBERON",
"id": "0000082",
"url": "http://purl.obolibrary.org/obo/UBERON_0000082"
},
"score": "63.99",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Stomach",
"namespace": "UBERON",
"id": "0000945",
"url": "http://purl.obolibrary.org/obo/UBERON_0000945"
},
"score": "66.93",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Esophagus",
"namespace": "UBERON",
"id": "0001043",
"url": "http://purl.obolibrary.org/obo/UBERON_0001043"
},
"score": "68.51",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Rectum",
"namespace": "UBERON",
"id": "0001052",
"url": "http://purl.obolibrary.org/obo/UBERON_0001052"
},
"score": "73.96",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Urinary bladder",
"namespace": "UBERON",
"id": "0001255",
"url": "http://purl.obolibrary.org/obo/UBERON_0001255"
},
"score": "59.5",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Thyroid gland",
"namespace": "UBERON",
"id": "0002046",
"url": "http://purl.obolibrary.org/obo/UBERON_0002046"
},
"score": "72.25",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Liver",
"namespace": "UBERON",
"id": "0002107",
"url": "http://purl.obolibrary.org/obo/UBERON_0002107"
},
"score": "65.03",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Prostate gland",
"namespace": "UBERON",
"id": "0002367",
"url": "http://purl.obolibrary.org/obo/UBERON_0002367"
},
"score": "64.83",
"present": "MEDIUM",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
},
{
"tissue": {
"name": "Thoracic mammary gland",
"namespace": "UBERON",
"id": "0005200",
"url": "http://purl.obolibrary.org/obo/UBERON_0005200"
},
"score": "78.28",
"present": "HIGH",
"evidence": [
{
"database": "Bgee",
"id": "ENSG00000122877",
"url": "https://bgee.org/?page=gene&gene_id=ENSG00000122877"
}
]
}
],
"expression_disease": [
{
"significant": "No",
"trend": "up",
"name": "Prostate cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10283",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:10283",
"recommended_name": {
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer",
"description": "A male reproductive organ cancer that is located_in the prostate."
},
"synonyms": [
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "NGP - new growth of prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "malignant tumor of the prostate",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostate neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic cancer",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "prostatic neoplasm",
"description": ""
},
{
"id": "DOID:10283",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:10283",
"name": "tumor of the prostate",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "prostate cancer, hereditary, type 9",
"description": ""
},
{
"id": "MONDO:0012597",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012597",
"name": "HPC9",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene."
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "EHBP1 familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "familial prostate cancer caused by mutation in EHBP1",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "prostate cancer, hereditary, type 12",
"description": ""
},
{
"id": "MONDO:0012741",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012741",
"name": "HPC12",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "prostate cancer, hereditary, type 5",
"description": ""
},
{
"id": "MONDO:0012244",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012244",
"name": "HPC5",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, hereditary, type 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "prostate cancer, susceptibility to, 3",
"description": ""
},
{
"id": "MONDO:0012093",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012093",
"name": "HPC3",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, type 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, susceptibility to, 4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "HPC4",
"description": ""
},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
"name": "prostate cancer, hereditary, on chromosome 7",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene."
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "MSMB familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "familial prostate cancer caused by mutation in MSMB",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "prostate cancer, hereditary, type 13",
"description": ""
},
{
"id": "MONDO:0012758",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012758",
"name": "HPC13",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, hereditary, type 8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "HPC8",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "predisposing for prostate cancer",
"description": ""
},
{
"id": "MONDO:0011270",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011270",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, hereditary, type 6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "HPC6",
"description": ""
},
{
"id": "MONDO:0012300",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012300",
"name": "prostate cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "HPC10",
"description": ""
},
{
"id": "MONDO:0012620",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012620",
"name": "prostate cancer, hereditary, 10",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate carcinoma",
"description": "Prostate carcinoma that has developed in relatives of patients with a history of prostate carcinoma."
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate cancer",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "hereditary prostate carcinoma",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, somatic",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, familial",
"description": ""
},
{
"id": "MONDO:0023122",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0023122",
"name": "prostate cancer, hereditary",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "HPC7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer, hereditary, 7",
"description": ""
},
{
"id": "MONDO:0012470",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012470",
"name": "prostate cancer aggressiveness",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene."
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "RNASEL familial prostate cancer",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "familial prostate cancer caused by mutation in RNASEL",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "prostate cancer, hereditary, type 1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "HPC1",
"description": ""
},
{
"id": "MONDO:0011098",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0011098",
"name": "Prca1",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "HPC11",
"description": ""
},
{
"id": "MONDO:0012768",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012768",
"name": "prostate cancer, hereditary, 11",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "HPC14",
"description": ""
},
{
"id": "MONDO:0012769",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012769",
"name": "prostate cancer, hereditary, 14",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "HPC15",
"description": ""
},
{
"id": "MONDO:0012770",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012770",
"name": "prostate cancer, hereditary, 15",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "HPCX1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer, hereditary, X-linked 1",
"description": ""
},
{
"id": "MONDO:0010257",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010257",
"name": "prostate cancer susceptibility, X-linked",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "HPCX2",
"description": ""
},
{
"id": "MONDO:0010405",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0010405",
"name": "prostate cancer, hereditary, X-linked 2",
"description": ""
},
{
"id": "MIM:611868",
"resource": "MIM",
"url": "https://www.omim.org/entry/611868",
"name": "Prostate cancer, hereditary, 12",
"description": "Prostate cancer, hereditary, 12"
},
{
"id": "MIM:611928",
"resource": "MIM",
"url": "https://www.omim.org/entry/611928",
"name": "Prostate cancer, hereditary, 13",
"description": "Prostate cancer, hereditary, 13"
},
{
"id": "MIM:176807",
"resource": "MIM",
"url": "https://www.omim.org/entry/176807",
"name": "Prostate cancer",
"description": "Prostate cancer"
},
{
"id": "MIM:601518",
"resource": "MIM",
"url": "https://www.omim.org/entry/601518",
"name": "Prostate cancer, hereditary, 1",
"description": "Prostate cancer, hereditary, 1"
},
{
"id": "MIM:611955",
"resource": "MIM",
"url": "https://www.omim.org/entry/611955",
"name": "Prostate cancer, hereditary, 11",
"description": "Prostate cancer, hereditary, 11"
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]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
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{
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},
{
"id": "DOID:10534",
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},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": "A primary or metastatic malignant neoplasm involving the stomach."
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca lesser curvature - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "cancer of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer risk after h. pylori infection",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumor",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant gastric tumour",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant stomach neoplasm",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumor of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of greater curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of lesser curve of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant tumour of the stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "stomach cancer",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "Ca body - stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "ca greater curvature of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "malignant neoplasm of body of stomach",
"description": ""
},
{
"id": "MONDO:0001056",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001056",
"name": "gastric cancer, intestinal",
"description": ""
},
{
"id": "MIM:613659",
"resource": "MIM",
"url": "https://www.omim.org/entry/613659",
"name": "Gastric cancer",
"description": "Gastric cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
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],
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{
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"name": "urinary bladder cancer",
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},
"synonyms": [
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},
{
"id": "DOID:11054",
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"url": "http://disease-ontology.org/term/DOID:11054",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": "A primary or metastatic malignant neoplasm involving the bladder."
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "bladder cancer, somatic",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "cancer of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant neoplasm, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumor, urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of the urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant tumour of urinary bladder",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "malignant urinary bladder tumour",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder cancer",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant neoplasm",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumor",
"description": ""
},
{
"id": "MONDO:0001187",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0001187",
"name": "urinary bladder malignant tumour",
"description": ""
},
{
"id": "MIM:109800",
"resource": "MIM",
"url": "https://www.omim.org/entry/109800",
"name": "Bladder cancer",
"description": "Bladder cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
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}
],
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{
"disease_id": "DOID:11934",
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"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
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},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
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},
{
"id": "DOID:11934",
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"name": "head/neck neoplasm",
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},
{
"id": "DOID:11934",
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}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
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},
"synonyms": [
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "LNCR1",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility",
"description": ""
},
{
"id": "MONDO:0012159",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012159",
"name": "lung cancer susceptibility 1",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "LNCR3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "lung cancer susceptibility 3",
"description": ""
},
{
"id": "MONDO:0012942",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012942",
"name": "adenocarcinoma of lung, susceptibility to",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "LNCR4",
"description": ""
},
{
"id": "MONDO:0012955",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012955",
"name": "lung cancer susceptibility 4",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "LNCR5",
"description": ""
},
{
"id": "MONDO:0013631",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0013631",
"name": "lung cancer susceptibility 5",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": "A malignant neoplasm involving the lung."
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "adenocarcinoma of lung, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "cancer of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, resistance to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung neoplasm",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumor",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant lung tumour",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant neoplasm of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumor of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "malignant tumour of the lung",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, somatic",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "nonsmall cell lung cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "Nonsmall cell lung cancer",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "alveolar cell carcinoma",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung cancer, protection against",
"description": ""
},
{
"id": "MONDO:0008903",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0008903",
"name": "lung neoplasm",
"description": ""
},
{
"id": "MIM:211980",
"resource": "MIM",
"url": "https://www.omim.org/entry/211980",
"name": "Lung cancer",
"description": "Lung cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Breast cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1612",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:1612",
"recommended_name": {
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast cancer",
"description": "A thoracic cancer that originates in the mammary gland."
},
"synonyms": [
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "breast tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant neoplasm of breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "malignant tumor of the breast",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary cancer",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "mammary tumor",
"description": ""
},
{
"id": "DOID:1612",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1612",
"name": "primary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": "Breast carcinoma that has developed in relatives of patients with history of breast carcinoma."
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer susceptibility, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, early-onset, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, invasive ductal, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, lobular, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, male, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, protection against, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, somatic",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "familial cancer of the breast",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast cancer",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "hereditary breast carcinoma",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial",
"description": ""
},
{
"id": "MONDO:0016419",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0016419",
"name": "breast cancer, familial Male",
"description": ""
},
{
"id": "MIM:114480",
"resource": "MIM",
"url": "https://www.omim.org/entry/114480",
"name": "Breast cancer",
"description": "Breast cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Thyroid cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1781",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:1781",
"recommended_name": {
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid cancer",
"description": "An endocrine gland cancer located in the thryoid gland located in the neck below the thyroid cartilage."
},
"synonyms": [
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid gland cancer",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "Thyroid gland neoplasm",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "malignant tumour of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "neoplasm of thyroid gland",
"description": ""
},
{
"id": "DOID:1781",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1781",
"name": "thyroid neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Kidney cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:263",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:263",
"recommended_name": {
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "kidney cancer",
"description": "A urinary system cancer that is located_in the kidney."
},
"synonyms": [
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant neoplasm of kidney except pelvis",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "malignant tumour of kidney",
"description": ""
},
{
"id": "DOID:263",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:263",
"name": "renal cancer",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Liver cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:3571",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:3571",
"recommended_name": {
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "liver cancer",
"description": "A hepatobiliary system cancer that is located_in the liver."
},
"synonyms": [
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Ca liver - primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "Resectable malignant neoplasm of Liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "hepatic neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant hepato-biliary neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, primary",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant tumor of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "non-resectable primary hepatic malignant neoplasm",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary liver cancer",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "primary malignant neoplasm of liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "resectable malignant neoplasm of the liver",
"description": ""
},
{
"id": "DOID:3571",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:3571",
"name": "malignant neoplasm of liver, not specified as primary or secondary",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Uterine cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:363",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:363",
"recommended_name": {
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine cancer",
"description": "A female reproductive organ cancer that is located_in the uterus."
},
"synonyms": [
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "CA - cancer of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "Tumour of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "malignant uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "neoplasm of uterus",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterine tumor",
"description": ""
},
{
"id": "DOID:363",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:363",
"name": "uterus neoplasm",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "up",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "P11161",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/P11161"
}
],
"disease": [
{
"disease_id": "DOID:5041",
"recommended_name": {
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophageal cancer",
"description": "A gastrointestinal system cancer that is located_in the esophagus."
},
"synonyms": [
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "esophagus cancer",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Distal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of Proximal Third of esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "DOID:5041",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:5041",
"name": "malignant tumor of the middle Third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": "A primary or metastatic malignant neoplasm involving the esophagus."
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of esophagus",
"description": ""
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{
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{
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{
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{
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{
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"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "rhythmic behavior",
"id": "GO:0007622",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007622",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "facial nerve structural organization",
"id": "GO:0021612",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021612",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "rhombomere 3 formation",
"id": "GO:0021660",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021660",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "rhombomere 5 formation",
"id": "GO:0021666",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021666",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "brain segmentation",
"id": "GO:0035284",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035284",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "rhombomere 3 structural organization",
"id": "GO:0021659",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021659",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
},
{
"name": "rhombomere 5 structural organization",
"id": "GO:0021665",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021665",
"evidence": [
{
"database": "UniProtKB",
"id": "P11161",
"url": "https://www.uniprot.org/uniprot/P11161"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 270,
"end_pos": 272,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 378,
"end_pos": 380,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 457,
"end_pos": 459,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 87,
"end_pos": 89,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "R-HSA-381337",
"name": "Expression of CEBPB in adipogenesis",
"equation": "",
"summary": "Expression of the CEBPB and CEBPD transcription factors is induced by at least three factors:
1) Mitogens such as those present in fetal serum act via the Krox20 transcription factor to activate expression of CEBPB.
2) Glucocorticoids activate expression of CEBPD.
3) Hormones or drugs that increase intracellular cAMP act via pCREB to activate expression of CEBPB.
The detailed mechanisms of activation are not yet known.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-381337",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-381337"
}
]
},
{
"id": "R-HSA-5617454",
"name": "HOXB1 gene is transcribed",
"equation": "",
"summary": "After activation by retinoic acid, the HOXB1 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in human embryonal carcinoma cells in Simeone et al. 1990, Ogura and Evans 1995).
In mouse embryos, Hoxb1 is expressed in mesoderm and neurectoderm of primitive streak stage embryos and then becomes restricted to rhombomeres of the hindbrain. Before rhombomere formation Hoxb1 is initially expressed in the region that becomes r3-7. After rhombomere formation Hoxb1 becomes restricted to r4 and is also observed in caudal mesoderm.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5617450"
],
"output_participant_list": [],
"enzyme_list": [
"O15550-1",
"O75928-1",
"Q09472-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"Q9Y6Q9-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617454",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617454"
}
]
},
{
"id": "R-HSA-5617483",
"name": "HOXA2 gene is transcribed",
"equation": "",
"summary": "The HOXA2 is transcribed to yield mRNA (in carcinoma cells, Yates et al. 2010). In mouse embryos Hoxa2 mRNA is observed in rhombomere 2 and caudally through posterior hindbrain, spinal cord, larynx, lungs, vertebrae, sternum, and intestine. Hoxa2 mRNA is a target of microRNA miR-3960 in differentiating mouse osteoblasts.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5617497"
],
"output_participant_list": [
"R-HSA-5617481"
],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617483",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617483"
}
]
},
{
"id": "R-HSA-5617484",
"name": "EGR2 (KROX20) activates HOXA2 expression",
"equation": "",
"summary": "As inferred from mouse embryos, HOXA2 expression is directly driven by EGR2 (KROX20) in rhombomeres 3 and 5 (r3, r5) of the hindbrain and by HOXB1 in r4. EGR2 binds sites in the 5' region of the HOXA2 gene. HOXB1 sets up the correct EGR2 expression domain in r3 and thereby indirectly regulates HOXA2 in this region. (HOXA2 is the only HOX gene active in r2. An unknown activator, possibly a transcription factor of the SOX family, may be involved in expression in r2.)",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617484",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617484"
}
]
},
{
"id": "R-HSA-5617486",
"name": "HOXB2 gene is transcribed",
"equation": "",
"summary": "The HOXB2 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in carcinoma cells in Simeone et al. 1990). In mouse embryos Hoxb2 mRNA is observed in rhombomere 3 and caudally in the neural tube and mesoderm derivatives such as lung.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5617499"
],
"output_participant_list": [
"R-HSA-5617488"
],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617486",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617486"
}
]
},
{
"id": "R-HSA-5617492",
"name": "EGR2 (KROX20) activates HOXB2 expression",
"equation": "",
"summary": "As inferrred from mouse embryos, EGR2 (KROX20) binds three sites in the 5' region of the HOXB2 gene and activates expression in rhombomere 3 (r3) and r5. HOXB1 activates HOXB2 in r4 and expression is also observed in r6 and r7.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617492",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617492"
}
]
},
{
"id": "R-HSA-5617661",
"name": "MAFB:JUN and EGR2 activate HOXB3 expression",
"equation": "",
"summary": "As inferred from mouse embryos, the MAFB:JUN (KREISLER:JUN) heterodimer binds the rhombomere 5 (r5) enhancer located 5' to the P1 promoter of the HOXB3 gene and activates expression in r5. EGR2 (KROX20) also binds the r5 enhancer is required to activate the HOXB3 gene in r5. After initial activation HOXB3 is hypothesized to maintain its own expression. HOXB3 is expressed most strongly in r5 and more weakly in caudal rhombomeres r6 and r7.",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617661",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617661"
}
]
},
{
"id": "R-HSA-5617672",
"name": "HOXB3 gene is transcribed",
"equation": "",
"summary": "The HOXB3 gene is transcribed to yield mRNA (in embryos in Giampaolo et al. 1989, in carcinoma cells in Simeone et al. 1990). The HOXB3 mRNA is a target of the microRNAs miR-7 and miR-218 in breast cancer cells (Li et al. 2012) and miR-10A (Weiss et al. 2009). In mouse embryos Hoxb3 mRNA is observed strongly in rhombomere 5 and more weakly in rhombomeres 6 and 7 of the hindbrain. Hoxb3 mRNA is also observed in mesodermal derivatives including lung, stomach, pancreas, and metanephros, and in neural crest derivatives.",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-5617658"
],
"output_participant_list": [
"R-HSA-5617656"
],
"enzyme_list": [
"O15550-1",
"O14686-1",
"P24928-1",
"Q8NEZ4-1",
"P30876-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-5617672",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-5617672"
}
]
},
{
"id": "R-HSA-9031616",
"name": "EGR binds ARC gene",
"equation": "",
"summary": "EGR1, 2 and 3 have been shown to bind to cognate response elements in the ARC promoter and upregulate gene expression (Li et al, 2005; Mullenbrock et al, 2011, Adams et al, 2017). EGR1 and 2 protein and transcript levels are upregulated in response to sustained NGF signaling, while EGR3 transcript but not protein levels increase with NGF treatment (Adams et al, 2017). EGR3-dependent ARC expression may contribute to the delayed, protein-synthesis dependent increase in ARC protein levels (Li et al, 2005).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9031616",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9031616"
}
]
},
{
"id": "R-HSA-9031624",
"name": "ARC gene expression",
"equation": "",
"summary": "The neuronal activity regulated cytoskeletal gene (ARC) is an immediate early gene that has roles in memory consolidation and synaptic plasticity, including long-term potentiation and depression (Plath et al, 2006; Mesaoudi et al, 2007; reviewed in Epstein and Finkbeiner, 2018). ARC was identified as a gene induced by seizures in the hippocampus, and is activated downstream of signaling pathways such as muscarinic acetylcholine receptors (mAChR), NTRK and NMDA receptors in response to synaptic activity (Link et al, 1995; Lyford et al, 1995; Steward et al, 2001; Teber et al, 2004; Pintchovski et al, 2009). These receptors initiate signaling through intracellular calcium, cAMP, PKA and MAPK signaling pathways and converge on transcription factors such as CREB, SRF and MEF2, among others, to activate ARC gene expression (reviewed in Epstein and Finkbeiner, 2018).
During synaptic activity, ARC mRNA is rapidly transported to active synapses after transcription and is locally translated (Steward et al, 1998; Giorgi et al, 2007). ARC contributes to synaptic strength by promoting AMPA receptor internalization (Chowdhury et al, 2006).
",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-9029441"
],
"output_participant_list": [
"R-HSA-9031622"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9031624",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9031624"
}
]
},
{
"id": "R-HSA-9612073",
"name": "NGF- and MAPK-dependent EGR1, EGR2 and EGR4 expression",
"equation": "",
"summary": "The Early Growth Response (EGR) gene family includes EGR1-4 and WT1. These Cys2-His2 zinc finger transcription factors are immediate early genes (IEG) that are rapidly turned on downstream of a number of stimuli and regulate expression of genes involved in stress response and differentiation (reviewed in Pagel and Deindl, 2001; Bahrami and Drabl\u00f8s, 2016). Roles for EGR proteins are well established in the nervous system, with EGR target genes contributing to synaptic plasticity, long-term potentiation, peripheral nerve myelination and NGF-induced neurite outgrowth (reviewed in Perez-Cadahia et al, 2011; Herdegen and Leah, 1998; O'Donovan et al, 1999).
Expression of EGR genes depends on binding of phosphorylated ternary complex factor (TCF) protein ELK1 and its transcriptional coactivator SRF (serum response factor) to their cognate DNA binding sequences in the promoters (Hooker et al, 2017; De Franco et al, 1993; Harada et al, 2001; reviewed in Herdegen and Leah, 1998). NGF-stimulated expression of EGR1 and 2 occurs downstream of sustained MAPK signaling (Millbrandt et al, 1987; Sukhatme et al, 1988; de Franco et al, 1998; Mullenbrock et al, 2011; Crosby et al, 1991; L\u00f6nn et al, 2005). In addition to SRF and TCF binding sites, the EGR1 promoter also contain consensus binding sequences for AP-1 and CREB, as well as binding sites for EGR1 protein itself (Schwachtgen et al, 2000; Thiel et al, 2000; Svaren et al, 1996; reviewed in Page; and Deindl, 2001). Expression of EGR1 is limited by a negative feedback loop mediated by the binding of a complex of EGR1 with a repressor protein of the NAB family (NGF1A binding protein) to the EGR1 binding site (Cao et al, 1990; Thiel et al, 2000; Svaren et al, 1996).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9612073",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612073"
}
]
},
{
"id": "R-HSA-9612483",
"name": "EGR1,2,3 bind the NAB2 promoter",
"equation": "",
"summary": "NAB1 and 2 (NGFI-A binding protein) are transcriptional co-repressors that interact with EGR1, 2 and 3 and repress transcription of EGR target genes (Swirnoff et al, 1998; Svaren et al, 1996; Russo et al, 1995; Sevetson et al, 2000; Abdulkadir et al, 2001). NAB proteins may contribute to transcriptional repression through the recruitment of CHD4 (Srinivasan et al, 2006). ; Expression of NAB2 is regulated in part by the binding of EGR proteins to the cognate site in the NAB2 promoter (Kumbrink et al, 2005; Kumbrink et al, 2010).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9612483",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612483"
}
]
},
{
"id": "R-HSA-9612493",
"name": "EGR-dependent NAB2 gene expression",
"equation": "",
"summary": "NAB1 and 2 (NGFI-A binding protein) are transcriptional co-factors that interact with EGR1, 2 and 3 and repress or activate transcription of EGR target genes in a context dependent fashion (Swirnoff et al, 1998; Svaren et al, 1996; Svaren et al, 1998; Russo et al, 1995; Sevetson et al, 2000; Abdulkadir et al, 2001; Le et al, 2005). NAB proteins may contribute to transcriptional repression through the recruitment of CHD4 (Srinivasan et al, 2006).
NAB2 is a delayed immediate early gene that is expressed in response to many of the same stimuli as EGR (Qu et al, 1998). Expression of NAB2 is regulated in part by the binding of EGR proteins to the cognate site in the NAB2 promoter (Kumbrink et al, 2005; Kumbrink et al, 2010). NAB2 expression is in frequently lost in prostate carcinomas and EGR1 is frequently overexpressed (Abdulkadir et al, 2001; Eid et al, 1998; Thigpen et al, 1996).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-8963030"
],
"output_participant_list": [
"R-HSA-9612177"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9612493",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612493"
}
]
},
{
"id": "R-HSA-9612534",
"name": "Expression of ID2 and ID4 is repressed by EGR2:NAB",
"equation": "",
"summary": "ID1-4 (Inhibitor of DNA-binding) are members of the helix-loop-helix family of proteins that lack the basic amino acids responsible for DNA binding in basic HLH proteins. HLH domain-mediated heterodimerization of an ID protein with a basic HLH protein therefore acts as a natural dominant negative inhibitor of bHLH function by preventing DNA binding (Massari and Murre, 2000). ID proteins primarily interact with members of the E family of proteins, including E12, E47, HEB and E2-2, but also interact with other bHLH proteins. ID proteins promote cell cycle progression and cell migration, and restrict cellular senescence and the differentiation of a number of progenitor cell types, including oligodendrocytes (reviewed in Perk et al, 2005; Ling et al, 2014).; Expression of ID2 and ID4 is negatively regulated by an EGR2:NAB2 complex that is recruited to the EGR binding sites in the promoter. Repression of ID2 and ID4 during development is associated with increased promoter occupancy of the EGR2:NAB2 complex and may be effected through the recruitment of the NURD chromatin remodelling complex and histone deacetylases. NAB2 has been shown to interact with the CHD4 and CHD3 subunits of the NURD complex through its conserved CHD4-interacting domain (CID) (Mager et al, 2008; Srinivasan et al, 2006; Hung et al, 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q14839-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9612534",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9612534"
}
]
},
{
"id": "R-HSA-9613210",
"name": "EGR1, EGR2 bind the RRAD promoter",
"equation": "",
"summary": "EGR1 and EGR2 are required for the activation of RRAD gene expression (Mager et al, 2008; Svaren et al, 2000). RRAD protein plays a role in serum-stimulated DNA synthesis in melanoma cells and contributes to electrical conductance in the heart (Zhu et al, 1999; Wang et al, 2010; Chang et al, 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9613210",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613210"
}
]
},
{
"id": "R-HSA-9613213",
"name": "NAB2 and CHD4 bind and repress EGR-mediated RRAD gene expression",
"equation": "",
"summary": "NAB2 is recruited to EGR2 to the RRAD promoter through interaction with the NCD1 (NAB conserved domain 1) (Svaren et al, 1996; Svaren et al, 1998). NAB2 in turn recruits the CHD4 subunit of the NURD chromatin remodelling complex through its CID (CHD4-interacting domain) and in this manner, represses transcription from the RRAD promoter (Srinivasan et al, 2006; Mager et al, 2008). In addition to roles in cellular proliferation and cardiac function, RRAD protein is known to contribute to RHO signaling, which promotes Schwann cell migration and myelination (Zhu et al, 1999; Wang et al, 2010; Chang et al, 2007, Ward et al, 2002; Yamauchi et al, 2004; Melendez-Vasquez et al, 2004).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q14839-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9613213",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613213"
}
]
},
{
"id": "R-HSA-9613219",
"name": "RRAD gene expression",
"equation": "",
"summary": "RRAD (Ras associated with diabetes) is a small GTP-binding member of the RAS superfaily that was originally as being overexpressed in skeletal muscle of people with type II diabetes (Reynet and Kahn, 1993; Zhu et al, 1995). RRAD has roles in cardiac regulation, and contributes to glucose metabolism and tumor metastasis through interaction with NME1 (nucleoside diphosphate kinase A) (Chang et al, 2007; Wang et al, 2010; Zhu et al, 1999; Tseng et al, 2001). In addition, RRAD contributes to Schwann cell development and myelination by modulating the RHO ROCK pathway (Ward et al, 2002; Yamauchi et al, 2004; Melendez-Vasquez et al, 2004). RRAD gene expression is positively regulated upon binding of EGR1 or EGR2 to their cognate sites in the promoter, while EGR-dependent recruitment of NAB proteins leads to EGR-mediated repression through the recruitment of chromatin remodellers and histone deacetylase complexes (Svaren et al, 2000; Mager et al, 2008). RRAD expression is repressed in Schwann cells during myelination and is upregulated in NAB knockout mice, implicating NAB proteins as negative regulators of RRAD expression (Verheijen et al, 2003; Mager et al, 2008; Desmazi\u00e8res et al, 2008). It is worth noting, however, that a number of genes required for Schwann cell differentiation and myelination are activated by EGR:NAB complexes at their promoters (Le et al, 2005).
",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-9613162"
],
"output_participant_list": [
"R-HSA-9613158"
],
"enzyme_list": [
"Q14839-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9613219",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613219"
}
]
},
{
"id": "R-HSA-9613476",
"name": "EGR2:NAB2 and CHD4 bind the ID2 and ID4 promoter regions",
"equation": "",
"summary": "EGR2 is required for peripheral nerve cell myelination in Schwann cells where it activates some target genes and represses others (Topilko et al, 1999; Zorick et al, 1996; Le et al, 2005; Le Blanc et al, 2005). ID2 and ID4 were identified as targets of EGR2-mediated repression during peripheral nerve myelination (Mager et al, 2008). EGR2 represses ID2 and ID4 gene expression by recruiting NAB2 and the NURD chromatin remodelling complex (Mager et al, 2008, Srinivasan et al, 2006).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q14839-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9613476",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613476"
}
]
},
{
"id": "R-HSA-9613760",
"name": "EGR2 gene expression",
"equation": "",
"summary": "EGR2 (also known as KROX20) is a member of the Early Growth Response (EGR) gene family encoding sequence-specific Cys2-His2 DNA binding transcription factors. The EGR family are immediate early genes (IEGs) whose expression is rapidly upregulated in response to a number of external stimuli to control activation of genes involved in stress response and differentiation (reviewed in Pagel and Deindl, 2001; Bahrami and Drabl\u00f8s, 2016). Roles for EGR proteins are well established in the nervous system, with EGR target genes contributing to synaptic plasticity, long-term potentiation, peripheral nerve myelination and NGF-induced neurite outgrowth (reviewed in Perez-Cadahia et al, 2011; Herdegen and Leah, 1998; O'Donovan et al, 1999)
In addition to its other roles, EGR2 is a critical regulator of myelination by Schwann cells in the peripheral nervous system (reviewed in Svaren and Meijer, 2008). Consistent with this, Schwann cells are blocked at the promyelinating stage in EGR2 knockouts in mice (Topilko et al, 1994). Expression of EGR2 during the myelination process is controlled by a myelinating Schwann cell enhancer (MSE) 35 kb downstream of the gene (Ghislain et al, 2002). The MSE is bound by SOX10, POU3F1 and POU3F2 (Ghislain and Charnay, 2006; Reiprich et al, 2010). SOX10 in turn recruits SMARCA4, HDAC1 and HDAC2 to play overlapping but non-redundant roles in activating EGR2 expression (Jacob et al, 2011; Chen et al, 2011; Weider et al, 2012).",
"cellular_location": "nucleoplasm",
"input_participant_list": [
"R-HSA-9612057"
],
"output_participant_list": [
"R-HSA-977385"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9613760",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9613760"
}
]
},
{
"id": "R-HSA-9614773",
"name": "MBP gene expression",
"equation": "",
"summary": "Myelin basic protein (MBP) is a key component of the myelin sheath synthesized by Schwan cells in the peripheral nervous system (Garbay et al, 2000). MBP expression is regulated by EGR2, which binds to both to an upstream enhancer and to sites within the first intron of the MBP gene (Forgahni et al, 2001; Denarier et al, 2005; Jang et al, 2006). Consistent with this, MBP expression is decreased in EGR2 knockout mice (Topilko et al, 1994, Le et al, 2005). Sequence analysis suggests that, as is the case for MPZ, SOX10 may act in conjunction with EGR2 to regulate MBP expression (Jones et al, 2006).",
"cellular_location": "cytosol, nucleoplasm",
"input_participant_list": [
"R-HSA-9613627"
],
"output_participant_list": [
"R-HSA-9614770"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9614773",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614773"
}
]
},
{
"id": "R-HSA-9614778",
"name": "MAG gene expression",
"equation": "",
"summary": "Myelin associated glycoprotein (MAG) is a low abundant component of the myelin sheath and is synthesized by oligodendrocytes and Schwann cells in the central and peripheral nervous system, respectively. MAG is also an adhesion molecule that binds to gangliosides and glycoproteins such as RTN4R and RTN4RL2 to mediate interaction between myelinating cells and neurons, and additionally functions after injury in the CNS to inhibit axon regeneration through the RHO A signaling pathway (reviewed in Schnarr and Lopez, 2009; Mehta et al, 2017; McKerracher and Rosen, 2015).
MAG expression is regulated in part by the binding of EGR2 and SOX10 to elements in the second intron of the gene (LeBlanc et al, 2007; Jang et al, 2006; Jones et al, 2007). Consistent with this, MAG expression is abrogated in EGR2-depleted mice and stimulated by ectopic EGR2 expression (Le et al, 2005; Nagarajan et al, 2001). At the protein level, MAG stability is postively regulated by the adhesion GPCR protein GPR98 (also known as VLGR1). GPR98 signals through G proteins, PKA and PKA to limit MAG ubiquitination and subsequent degradation, although the mechanism remains to be elucidated (Shin et al, 2013; reviewed in Mehta and Piao, 2017).",
"cellular_location": "nucleoplasm, plasma membrane",
"input_participant_list": [
"R-HSA-9614777"
],
"output_participant_list": [
"R-HSA-194456"
],
"enzyme_list": [
"Q8WXG9-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9614778",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614778"
}
]
},
{
"id": "R-HSA-9614787",
"name": "MPZ gene expression",
"equation": "",
"summary": "MPZ is the most abundant component of the myelin sheath that surrounds axons of the peripheral nervous system. Expression of MPZ is dependent on axonal signals that stimulate the binding of transcriptional regulators EGR2 and SOX10 to response elements in intron 1, where they recruit SMARCA4 to the gene (Le Blanc et al, 2006; Le Blanc et al, 2007; Jones et al, 2007; Marathe et al, 2013). SOX10 additionally binds to elements in the promoter of MPZ, where it regulates both basal and upregulated MPZ expression (Peirano et al, 2000).",
"cellular_location": "nucleoplasm, plasma membrane",
"input_participant_list": [
"R-HSA-9613630"
],
"output_participant_list": [
"R-HSA-197840"
],
"enzyme_list": [
"P51532-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9614787",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614787"
}
]
},
{
"id": "R-HSA-9614790",
"name": "EGR2, SOX10 and SMARCA4 bind the MPZ gene",
"equation": "",
"summary": "MPZ is a key component of the myelin sheath that surrounds axons of the peripheral nervous system. Expression of MPZ is dependent on binding of transcriptional regulators EGR2 and SOX10 to response elements in intron 1, where they recruit SMARCA4 to the gene (Le Blanc et al, 2006; Le Blanc et al, 2007; Marathe et al, 2013). SOX10 additionally binds to elements in the promoter of MPZ (Peirano et al, 2000).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51532-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9614790",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9614790"
}
]
},
{
"id": "R-HSA-9615626",
"name": "PMP22 gene expression",
"equation": "",
"summary": "The PMP22 gene encodes a peripheral myelin protein that is a component of the myelin sheath surrounding axons in the peripheral nervous system (reviewed in Garbay et al, 2000; Svaren and Meijer, 2008). Point mutations and duplications in the PMP22 gene cause the most prevalent form of the demyelinating peripheral neuropathy, Charcot-Marie-Tooth disease, while deletions lead to Hereditary Neuropathy with liability to Pressure Palsies (HNPP) (reviewed in van Passsen et al, 2014).; PMP22 expression is controlled by a number of upstream and intronic enhancer elements that are bound by EGR2 and SOX10, master regulators of peripheral nerve myelination (Nagarajan et al, 2001; Maier et al, 2002; Maier et al, 2003; Jones et al, 2011; Jones et al, 2012; Srinivasan et al, 2012). In addition, PMP22 enhancers contain binding sites for the Hippo pathway transcription factor TEAD1, and TEAD1 and co-activators WWTR1 (also known as TAZ) and YAP1 are required for PMP22 expression (Lopez-Anido et al, 2016).",
"cellular_location": "nucleoplasm, plasma membrane",
"input_participant_list": [
"R-HSA-9615620"
],
"output_participant_list": [
"R-HSA-9615623"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9615626",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615626"
}
]
},
{
"id": "R-HSA-9615638",
"name": "EGR2 and SOX10 bind the MBP gene",
"equation": "",
"summary": "Myelin basic protein (MBP) is a key component in the myelin sheath that coats axons of the peripheral nervous system. MBP expression is regulated by EGR2 binding to sites in an enhancer that lies ~9kb upstream of the transcriptional start site, as well as to a binding site in the first intron (Forgahni et al, 2001; Denarier et al, 2005; Jang et al, 2006; Jones et al, 2007). Based on conservation of binding sites, SOX10 is predicted to also contribute to MBP expression during myelination (Jones et al, 2007), and this is substantiated by ChIP seq analysis and Sox10 knockdown studies in mouse (Arido-Lopez et al, 2015).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9615638",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9615638"
}
]
},
{
"id": "R-HSA-9616116",
"name": "EGR2 and SOX10 bind the MAG gene",
"equation": "",
"summary": "EGR2 and SOX10 bind to elements in the MAG gene to promote expression during myelination in the peripheral and central nervous system (Jones et al, 2007; Jang et al, 2006; LeBlanc et al, 2007).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9616116",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9616116"
}
]
},
{
"id": "R-HSA-9618559",
"name": "EGR2, SOX10 and TEAD1 bind enhancers in the PMP22 gene",
"equation": "",
"summary": "PMP22 gene expression is regulated during peripheral nerve myelination by the binding of EGR2 and SOX10 to upstream and intronic enhancer elements (Nagarajan et al, 2001; Maier et al, 2002; Maier et al, 2003; Jones et al, 2011; Srinivasan et al, 2012). Hippo signaling also influences PMP22 expression during peripheral never myelination by modulating the binding of the TEAD1, WWTR1 (also known as TAZ) and YAP1 to cognate sites in the PMP22 gene (Lopez-Anido et al, 2016; reviewed in Castelnovo et al, 2017).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9618559",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9618559"
}
]
},
{
"id": "R-HSA-9618725",
"name": "SOX10, EGR2 and NAB proteins bind the GJB1 promoter",
"equation": "",
"summary": "GJB1 expression is regulated by two alternate promoters in a tissue specific manner. In Schwann cells, expression is driven by the P2 promoter and depends on binding by SOX10, EGR2 and NAB1 or NAB2 (Neuhaus et al, 1996; Bondurand et al, 2001; Le et al, 2005; Lopez-Arido et al, 2015).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9618725",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9618725"
}
]
},
{
"id": "R-HSA-9619657",
"name": "EGR2 and SOX10 bind the PRX gene",
"equation": "",
"summary": "Periaxin (PRX) is a scaffolding protein that is part of a dystrophin:dystroglycan complex required for maintenance of the myelin sheath in Schwann cells. PRX homodimers interact with DRP2 to form a complex with dystroglycan at the basal lamina, anchoring the complex in the plasma membrane (Sherman et al, 2001; Han and Kursala, 2014). Mutations in PRX are associated with severe demyelinating peripheral neuropathies (Boerkoel et al, 2001; Guilbot et al, 2001).
Expression of PRX initiates earlier than EGR2 during peripheral nerve cell myelination, indicating an EGR2-independent mechanism early during myelination (Parkinson et al, 2003). Candidate regulators of this early expression include SOX10 and EGR1, which is expressed in embryonic Schwann cells and with EGR2 at postnatal day 1 (Topilko et al, 1997). Sustained, upregulated expression of PRX during myelination depends on the binding of EGR2 and SOX10 to a binding site within the first intron, 4.5 kb from the transcription start site (Jones et al, 2007; Srinivasan et al, 2012). Consistent with this, expression of PRX is decreased in EGR2 null mice (Nagarajan et al, 2001; Boerkoel et al, 2001).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9619657",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619657"
}
]
},
{
"id": "R-HSA-9619667",
"name": "PRX gene expression",
"equation": "",
"summary": "Periaxin (PRX) is a scaffolding protein that is part of a dystrophin:dystroglycan complex required for maintenance of the myelin sheath in Schwann cells. PRX homodimers interact with DRP2 to form a complex with dystroglycan at the basal lamina, anchoring the complex in the plasma membrane (Sherman et al, 2001; Han and Kursala, 2014). Mutations in PRX are associated with severe demyelinating peripheral neuropathies (Boerkoel et al, 2001; Guilbot et al, 2001).
Expression of PRX initiates earlier than EGR2 during peripheral nerve cell myelination, indicating an EGR2-independent mechanism early during myelination (Parkinson et al, 2003). Candidate regulators of this early expression include SOX10 and EGR1, which is expressed in embryonic Schwann cells and with EGR2 at postnatal day 1 (Topilko et al, 1997). Sustained, upregulated expression of PRX during myelination depends on the binding of EGR2 and SOX10 to a binding site within the first intron, 4.5 kb from the transcription start site (Jones et al, 2007; Srinivasan et al, 2012). Consistent with this, expression of PRX is decreased in EGR2 null mice (Nagarajan et al, 2001; Boerkoel et al, 2001).",
"cellular_location": "nucleoplasm, plasma membrane",
"input_participant_list": [
"R-HSA-9619344"
],
"output_participant_list": [
"R-HSA-9619341"
],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9619667",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9619667"
}
]
},
{
"id": "R-HSA-9621399",
"name": "SCD5 gene expression",
"equation": "",
"summary": "Stearoyl-CoA desaturase 5 (SCD5, also known as acyl-CoA desaturase 4 or SCD2) is a ER-membrane protein involved in the desturation of fatty acyl-CoA substrates (Wang et al, 2005; Zhang et al, 2005). SCD5 gene expression is upregulated in an SREBF2- and EGR2-dependent manner during Schwann cell myelination (Tabor et al, 1998; Tabor et al, 1999; Horton et al, 2003; LeBlanc et al, 2004; Jang et al, 2010).",
"cellular_location": "endoplasmic reticulum membrane, nucleoplasm",
"input_participant_list": [
"R-HSA-9621342"
],
"output_participant_list": [
"R-HSA-8847580"
],
"enzyme_list": [
"Q86SK9-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9621399",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621399"
}
]
},
{
"id": "R-HSA-9621400",
"name": "EGR2 and SREBF2 dimer bind SCD5 gene",
"equation": "",
"summary": "SCD5 expression is upregulated during Schwann cell myelination in an EGR2- and SREBF2 dependent manner (LeBlanc et all, 2005; Jang et al, 2010). SCD5 encodes a stearyl-CoA desaturase involved in long chain fatty acid biosynthesis (Wang et al, 2005; Zhang et al, 2005).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9621400",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621400"
}
]
},
{
"id": "R-HSA-9621404",
"name": "CYP51A1 gene expression",
"equation": "",
"summary": "CYP51A1 encodes lanosterol 14 alpha-demethylase, an enzyme involved in steroid biosynthesis (Stroemstedt et al, 1996; Strushkevich et al, 2010). CYP51A1 is upregulated during Schwann cell myelination in an EGR2- and SREBF2-dependent manner, and sites for these factors have been identified in the upstream promoter region (Nagarajan et al, 2001; Halder et al, 2002; LeBlanc et al, 2005; Jang et al, 2010).",
"cellular_location": "endoplasmic reticulum membrane, nucleoplasm",
"input_participant_list": [
"R-HSA-5660427"
],
"output_participant_list": [
"R-HSA-194721"
],
"enzyme_list": [
"Q16850-1",
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9621404",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621404"
}
]
},
{
"id": "R-HSA-9621406",
"name": "EGR2 and SREBF2 dimer bind CYP51A1 gene",
"equation": "",
"summary": "CYP51A1 encodes lanosterol 14 alpha-demethylase, a protein involved in steroid biosynthetic pathways (Stromstedt et al, 1996; Strushkevich et al, 2010). Consistent with its expression during Schwann cell myelination, expression is synergistically activated by EGR2 and SREBF2 acting through cognate sites in the promoter (Nagarajan et al, 2001; Halder et al, 2002; LeBlanc et al, 2005; Jang et al, 2010).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9621406",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621406"
}
]
},
{
"id": "R-HSA-9621410",
"name": "HMGCR gene expression",
"equation": "",
"summary": "Cholesterol is highly enriched in the Schwann cell membrane and it plays an essential role in the maturation of MPZ, a key protein component of the compact myelin sheath (Saher and Simons, 2010). The cholesterol of the myelin sheath is synthesized within the Schwann cells, rather than being absorbed from the blood (Jurevics and Morell, 1994; Jurevics et al, 1998). Consistent with this, a number of genes involved in the cholesterol biosynthesis pathway are upregulated during the myelination program, including HMG synthase and HMG coenzyme-A reductase (HMGCR) (Nagarjan et al, 2001; Verheijen et al, 2003; Le Blanc et al, 2005; Jang et al, 2010; Kim et al, 2016; reviewed in Camargo et al, 2009).; Myelin-specific expression of HMGCR depends on binding of sterol response binding factor 2 (SREBF2) to its cognate SRE site in the HMGCR promoter (Vallett et al, 1996; Pai et al, 1998; LeBlanc et al, 2005). SREBF2-dependent expression of HMGCR is increased with co-expression of EGR2, suggesting that the transcription factors synergistically activate expression (LeBlanc et al, 2005).",
"cellular_location": "endoplasmic reticulum membrane, nucleoplasm",
"input_participant_list": [],
"output_participant_list": [
"R-HSA-9621345"
],
"enzyme_list": [
"P11161-1",
"P04035-1"
],
"evidence": [
{
"id": "R-HSA-9621410",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621410"
}
]
},
{
"id": "R-HSA-9621411",
"name": "EGR2 and SREBF2(1-484) dimer bind HMGCR gene",
"equation": "",
"summary": "HMG coenzyme A reductase catalyzes a rate-limiting step in cholesterol biosynthesis and is expressed in a SREBF2- and EGR2-dependent manner during Schwann cell myelination. Cognate binding sites for both SREBF2 and EGR2 have been identified in the promoter of HMGCR, and the transcription factors act synergistically to promote transcription (Pai et al, 1998; Nagarajan et al, 2001; Verheijen et al, 2003; LeBlanc et al, 2005; Jang et al, 2010).",
"cellular_location": "nucleoplasm",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P11161-1"
],
"evidence": [
{
"id": "R-HSA-9621411",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-9621411"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-HSA-194456",
"participant_name": "MAG [plasma membrane]",
"crossref": [
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{
"participant_id": "R-HSA-194721",
"participant_name": "CYP51A1 [endoplasmic reticulum membrane]",
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"id": "CP51A_HUMAN",
"database": "ZINC - World Drugs",
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{
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{
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