{
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"uniprot_ac": "O43426",
"uniprot_id": "SYNJ1_HUMAN",
"mass": {
"chemical_mass": 173103.0,
"monoisotopic_mass": 173103.0
},
"refseq": {
"ac": "NP_982271",
"name": "synaptojanin-1 isoform b",
"summary": "This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
},
"gene_names": [
{
"name": "SYNJ1",
"resource": "UniProtKB",
"type": "recommended",
"url": "https://www.uniprot.org/uniprot/O43426",
"id": "O43426"
},
{
"name": "DEE53; EIEE53; INPP5G; PARK20",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271",
"id": "NP_982271"
},
{
"name": "KIAA0910",
"resource": "UniProtKB",
"type": "synonym",
"url": "https://www.uniprot.org/uniprot/O43426",
"id": "O43426"
},
{
"name": "SYNJ1",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271",
"id": "NP_982271"
}
],
"protein_names": [
{
"name": "Synaptojanin-1",
"resource": "UniProtKB",
"type": "recommended",
"url": "",
"id": "O43426"
},
{
"name": "3.1.3.36",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43426"
},
{
"name": "Synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1",
"resource": "UniProtKB",
"type": "synonym",
"url": "",
"id": "O43426"
},
{
"name": "inositol 5'-phosphatase (synaptojanin 1); synaptojanin-1, polyphosphoinositide phosphatase; synaptic inositol 1,4,5-trisphosphate 5-phosphatase 1; phosphoinositide 5-phosphatase; inositol polyphosphate-5-phosphatase G",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271",
"id": "NP_982271"
},
{
"name": "synaptojanin-1 isoform b",
"resource": "RefSeq",
"type": "synonym",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271",
"id": "NP_982271"
}
],
"function": [
{
"annotation": "A structure of substrate-bound Synaptojanin1 provides new insights in its mechanism and the effect of disease mutations. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_982271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
},
{
"database": "PubMed",
"id": "33349335",
"url": "https://glygen.org/publication/PubMed/33349335"
}
]
},
{
"annotation": "Alpha-Synuclein induces deficiency in clathrin-mediated endocytosis through inhibiting synaptojanin1 expression.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_982271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
},
{
"database": "PubMed",
"id": "37788328",
"url": "https://glygen.org/publication/PubMed/37788328"
}
]
},
{
"annotation": "Asparagine endopeptidase cleaves synaptojanin 1 and triggers synaptic dysfunction in Parkinson's disease.",
"evidence": [
{
"database": "RefSeq",
"id": "NP_982271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
},
{
"database": "PubMed",
"id": "33677035",
"url": "https://glygen.org/publication/PubMed/33677035"
}
]
},
{
"annotation": "Phosphatase that acts on various phosphoinositides, including phosphatidylinositol 4-phosphate, phosphatidylinositol (4,5)-bisphosphate and phosphatidylinositol (3,4,5)-trisphosphate (PubMed:27435091, PubMed:23804563). Has a role in clathrin-mediated endocytosis (By similarity). Hydrolyzes PIP2 bound to actin regulatory proteins resulting in the rearrangement of actin filaments downstream of tyrosine kinase and ASH/GRB2 (By similarity).",
"evidence": [
{
"database": "UniProtKB",
"id": "O43426",
"url": "https://www.uniprot.org/uniprot/O43426#function"
},
{
"database": "UniProtKB",
"id": "O18964",
"url": "https://www.uniprot.org/uniprot/O18964#function"
},
{
"database": "PubMed",
"id": "23804563",
"url": "https://glygen.org/publication/PubMed/23804563"
},
{
"database": "UniProtKB",
"id": "Q62910",
"url": "https://www.uniprot.org/uniprot/Q62910#function"
},
{
"database": "PubMed",
"id": "27435091",
"url": "https://glygen.org/publication/PubMed/27435091"
}
]
},
{
"annotation": "The lipid phosphatase Synaptojanin 1 undergoes a significant alteration in expression and solubility and is associated with brain lesions in Alzheimer's disease. Publication Status: Online-Only",
"evidence": [
{
"database": "RefSeq",
"id": "NP_982271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
},
{
"database": "PubMed",
"id": "32493451",
"url": "https://glygen.org/publication/PubMed/32493451"
}
]
},
{
"annotation": "This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011].",
"evidence": [
{
"database": "RefSeq",
"id": "NP_982271",
"url": "https://www.ncbi.nlm.nih.gov/protein/NP_982271"
}
]
}
],
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{
"disease_id": "DOID:0060898",
"recommended_name": {
"id": "DOID:0060898",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060898",
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"description": "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22."
},
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"id": "DOID:0060898",
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"url": "http://disease-ontology.org/term/DOID:0060898",
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"description": ""
},
{
"id": "DOID:0060898",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0060898",
"name": "early-onset Parkinson disease 20",
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},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
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"description": "Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene."
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "Parkinson disease caused by mutation in SYNJ1",
"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "SYNJ1 Parkinson disease",
"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
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"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "PARK20",
"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "Parkinson disease 20, early-onset",
"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "early-onset Parkinson's disease 20",
"description": ""
},
{
"id": "MIM:615530",
"resource": "MIM",
"url": "https://www.omim.org/entry/615530",
"name": "Parkinson disease 20, early-onset",
"description": "Parkinson disease 20, early-onset"
}
],
"evidence": [
{
"id": "615530",
"database": "MIM",
"url": "https://www.omim.org/entry/615530"
}
]
},
{
"disease_id": "DOID:0080464",
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"id": "DOID:0080464",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080464",
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},
"synonyms": [
{
"id": "DOID:0080464",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080464",
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"description": ""
},
{
"id": "DOID:0080464",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:0080464",
"name": "DEE53",
"description": ""
},
{
"id": "MONDO:0033362",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033362",
"name": "developmental and epileptic encephalopathy, 53",
"description": ""
},
{
"id": "MONDO:0033362",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033362",
"name": "DEE53",
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},
{
"id": "MONDO:0033362",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033362",
"name": "EIEE53",
"description": ""
},
{
"id": "MONDO:0033362",
"resource": "MONDO",
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},
{
"id": "MONDO:0033362",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0033362",
"name": "epileptic encephalopathy, early infantile, 53",
"description": ""
},
{
"id": "MIM:617389",
"resource": "MIM",
"url": "https://www.omim.org/entry/617389",
"name": "Developmental and epileptic encephalopathy 53",
"description": "Developmental and epileptic encephalopathy 53"
}
],
"evidence": [
{
"id": "617389",
"database": "MIM",
"url": "https://www.omim.org/entry/617389"
}
]
}
],
"snv": [
{
"evidence": [
{
"id": "rs1441010158",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1441010158"
},
{
"id": "rs1441010158",
"database": "gnomAD",
"url": "http://gnomad.broadinstitute.org/awesome?query=rs1441010158"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 109,
"end_pos": 109,
"sequence_org": "D",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (DSS->NSS).",
"chr_id": "21",
"chr_pos": "32699992",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "D109",
"keywords": [
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"germline"
]
},
{
"evidence": [
{
"id": "rs1555886538",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs1555886538"
},
{
"id": "rs1555886538",
"database": "ENSEMBL",
"url": "https://www.ensembl.org/id/rs1555886538"
}
],
"glycoeffect": [
"n-glyco-sequon-gain"
],
"start_pos": 1367,
"end_pos": 1367,
"sequence_org": "L",
"sequence_mut": "N",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (LSS->NSS).",
"chr_id": "21",
"chr_pos": "32631616_32631618delins",
"ref_nt": "T",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "L1367",
"keywords": [
"ebi",
"germline"
]
},
{
"evidence": [
{
"id": "rs866258846",
"database": "dbSNP",
"url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs866258846"
},
{
"id": "rs866258846",
"database": "TOPMed",
"url": "https://www.ncbi.nlm.nih.gov/snp/rs866258846#frequency_tab"
}
],
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],
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"end_pos": 1367,
"sequence_org": "L",
"sequence_mut": "S",
"comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (NVL->NVS).",
"chr_id": "21",
"chr_pos": "32631617",
"ref_nt": "G",
"alt_nt": "null",
"minor_allelic_frequency": "",
"site_lbl": "L1367",
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},
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},
{
"id": "DOID:0080464",
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},
{
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},
{
"id": "MONDO:0033362",
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},
{
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}
]
},
{
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{
"id": "MONDO:0014233",
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"url": "https://monarchinitiative.org/disease/MONDO:0014233",
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},
{
"id": "MONDO:0014233",
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},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "early-onset Parkinson disease type 20",
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},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
"name": "PARK20",
"description": ""
},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
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},
{
"id": "MONDO:0014233",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0014233",
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},
{
"id": "MIM:615530",
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"description": "Parkinson disease 20, early-onset"
}
]
}
],
"keywords": [
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},
{
"evidence": [
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"id": "rs769099271",
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},
{
"id": "rs769099271",
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},
{
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},
{
"id": "rs769099271",
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],
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"end_pos": 1383,
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"chr_id": "21",
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"site_lbl": "S1383",
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{
"id": "DOID:0080464",
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},
{
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"resource": "MONDO",
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},
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},
{
"id": "MONDO:0033362",
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},
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},
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]
},
{
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},
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},
{
"id": "DOID:0060898",
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},
{
"id": "MONDO:0014233",
"resource": "MONDO",
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"name": "early-onset Parkinson disease 20",
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},
{
"id": "MONDO:0014233",
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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:0012244",
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{
"id": "MONDO:0012244",
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"url": "https://monarchinitiative.org/disease/MONDO:0012244",
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{
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},
{
"id": "MONDO:0012093",
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{
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},
{
"id": "MONDO:0012093",
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{
"id": "MONDO:0012094",
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},
{
"id": "MONDO:0012094",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0012094",
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},
{
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{
"id": "MONDO:0012094",
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{
"id": "MONDO:0012094",
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},
{
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{
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{
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{
"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"
}
]
}
]
},
{
"significant": "No",
"trend": "up",
"name": "Stomach cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:10534",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"disease": [
{
"disease_id": "DOID:10534",
"recommended_name": {
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"resource": "Disease Ontology",
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},
"synonyms": [
{
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"name": "gastric cancer",
"description": ""
},
{
"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": "No",
"trend": "down",
"name": "Urinary bladder cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11054",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
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],
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{
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},
"synonyms": [
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"url": "http://disease-ontology.org/term/DOID:11054",
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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": "No",
"trend": "down",
"name": "Head and neck cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:11934",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"disease": [
{
"disease_id": "DOID:11934",
"recommended_name": {
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck cancer",
"description": "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx."
},
"synonyms": [
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head and neck tumours",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "head/neck neoplasm",
"description": ""
},
{
"id": "DOID:11934",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:11934",
"name": "tumor of head and neck",
"description": ""
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Lung cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:1324",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"disease": [
{
"disease_id": "DOID:1324",
"recommended_name": {
"id": "DOID:1324",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:1324",
"name": "lung cancer",
"description": "A respiratory system cancer that is located_in the lung."
},
"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": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": "No",
"trend": "down",
"name": "Esophageal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:5041",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"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": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "cancer of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, somatic",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophageal tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant esophagus tumor",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus neoplasm",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant oesophagus tumour",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "oesophagus cancer",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca lower third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Ca middle third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of lower third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of middle third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant neoplasm of upper third oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of abdominal esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of distal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of proximal third of esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumor of the middle third of the esophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of abdominal oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of distal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of proximal third of oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "malignant tumour of the middle third of the oesophagus",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Aerodigestive tract cancer, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "Escc, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "esophageal squamous cell carcinoma, susceptibility to",
"description": ""
},
{
"id": "MONDO:0007576",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0007576",
"name": "gastric cardia adenocarcinoma, susceptibility to",
"description": ""
},
{
"id": "MIM:133239",
"resource": "MIM",
"url": "https://www.omim.org/entry/133239",
"name": "Esophageal cancer",
"description": "Esophageal cancer"
}
]
}
]
},
{
"significant": "Yes",
"trend": "down",
"name": "Colorectal cancer [DO disease name]",
"url": "http://disease-ontology.org/term/DOID:9256",
"evidence": [
{
"database": "BioXpress",
"id": "O43426",
"url": "https://hive.biochemistry.gwu.edu/bioxpress/transcriptview/O43426"
}
],
"disease": [
{
"disease_id": "DOID:9256",
"recommended_name": {
"id": "DOID:9256",
"resource": "Disease Ontology",
"url": "http://disease-ontology.org/term/DOID:9256",
"name": "colorectal cancer",
"description": "A large intestine cancer that is located_in the colon and/or located_in the rectum."
},
"synonyms": [
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": "A primary or metastatic malignant neoplasm that affects the colon or rectum. Representative examples include carcinoma, lymphoma, and sarcoma."
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of colorectum",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of large intestine",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "cancer of the large bowel",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, advanced, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colon cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer with chromosomal instability, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, somatic",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectal cancer, susceptibility to, autosomal dominant, somatic mutation",
"description": ""
},
{
"id": "MONDO:0005575",
"resource": "MONDO",
"url": "https://monarchinitiative.org/disease/MONDO:0005575",
"name": "colorectum cancer",
"description": ""
},
{
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"url": "",
"sequence": {
"sequence": "MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKAGKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER",
"length": 1526,
"header": "tr|A0A0D9SGJ6-1|A0A0D9SGJ6_HUMAN Computationally mapped isoform of phosphoinositide 5-phosphatase OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32726895,
"end_pos": 32630998,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000630077.3",
"url": "https://www.ensembl.org/id/ENST00000630077.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000487560.1",
"url": "https://www.ensembl.org/id/ENSP00000487560.1"
}
]
}
},
{
"isoform_ac": "C9J1Z6-1",
"url": "",
"sequence": {
"sequence": "MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDW",
"length": 178,
"header": "tr|C9J1Z6-1|C9J1Z6_HUMAN Computationally mapped isoform of Phosphatidylinositol-3-phosphatase SAC1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32726895,
"end_pos": 32695228,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000456084.1",
"url": "https://www.ensembl.org/id/ENST00000456084.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000412707.1",
"url": "https://www.ensembl.org/id/ENSP00000412707.1"
}
]
}
},
{
"isoform_ac": "C9JFZ1-1",
"url": "",
"sequence": {
"sequence": "MRKRWACWSGSDAPGGCGGGCGRRRRRSRRKRAASEERRMAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG",
"length": 1350,
"header": "tr|C9JFZ1-1|SYNJ1_HUMAN Computationally mapped isoform of Synaptojanin-1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32728040,
"end_pos": 32634867,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000382499.7",
"url": "https://www.ensembl.org/id/ENST00000382499.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000371939.2",
"url": "https://www.ensembl.org/id/ENSP00000371939.2"
}
]
}
},
{
"isoform_ac": "C9JW66-1",
"url": "",
"sequence": {
"sequence": "MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKAGKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKER",
"length": 695,
"header": "tr|C9JW66-1|C9JW66_HUMAN Computationally mapped isoform of phosphoinositide 5-phosphatase OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32726895,
"end_pos": 32665988,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000429236.5",
"url": "https://www.ensembl.org/id/ENST00000429236.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000413649.1",
"url": "https://www.ensembl.org/id/ENSP00000413649.1"
}
]
}
},
{
"isoform_ac": "H7BZ56-1",
"url": "",
"sequence": {
"sequence": "XAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQEQPSG",
"length": 131,
"header": "tr|H7BZ56-1|H7BZ56_HUMAN Computationally mapped isoform of Synaptojanin 1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32641945,
"end_pos": 32634866,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000418301.3",
"url": "https://www.ensembl.org/id/ENST00000418301.3"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000387868.1",
"url": "https://www.ensembl.org/id/ENSP00000387868.1"
}
]
}
},
{
"isoform_ac": "H7BZC2-1",
"url": "",
"sequence": {
"sequence": "XPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG",
"length": 187,
"header": "tr|H7BZC2-1|SYNJ1_HUMAN Computationally mapped isoform of Synaptojanin-1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32645710,
"end_pos": 32634865,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000438952.5",
"url": "https://www.ensembl.org/id/ENST00000438952.5"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000388869.1",
"url": "https://www.ensembl.org/id/ENSP00000388869.1"
}
]
}
},
{
"isoform_ac": "J3KPK1-1",
"url": "",
"sequence": {
"sequence": "MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKAGKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQQEQPSG",
"length": 1264,
"header": "tr|J3KPK1-1|SYNJ1_HUMAN Computationally mapped isoform of Synaptojanin-1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=2 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32726895,
"end_pos": 32634867,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000382491.7",
"url": "https://www.ensembl.org/id/ENST00000382491.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000371931.4",
"url": "https://www.ensembl.org/id/ENSP00000371931.4"
}
]
}
},
{
"isoform_ac": "J3KQV8-1",
"url": "",
"sequence": {
"sequence": "MRKRWACWSGSDAPGGCGGGCGRRRRRSRRKRAASEERRMAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER",
"length": 1612,
"header": "tr|J3KQV8-1|SYNJ1_HUMAN Computationally mapped isoform of Synaptojanin-1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=1 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32728040,
"end_pos": 32630998,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000433931.7",
"url": "https://www.ensembl.org/id/ENST00000433931.7"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000409667.2",
"url": "https://www.ensembl.org/id/ENSP00000409667.2"
}
]
}
},
{
"isoform_ac": "O43426-1",
"url": "",
"sequence": {
"sequence": "MAFSKGFRIYHKLDPPPFSLIVETRHKEECLMFESGAVAVLSSAEKEAIKGTYSKVLDAYGLLGVLRLNLGDTMLHYLVLVTGCMSVGKIQESEVFRVTSTEFISLRIDSSDEDRISEVRKVLNSGNFYFAWSASGISLDLSLNAHRSMQEQTTDNRFFWNQSLHLHLKHYGVNCDDWLLRLMCGGVEIRTIYAAHKQAKACLISRLSCERAGTRFNVRGTNDDGHVANFVETEQVVYLDDSVSSFIQIRGSVPLFWEQPGLQVGSHRVRMSRGFEANAPAFDRHFRTLKNLYGKQIIVNLLGSKEGEHMLSKAFQSHLKASEHAADIQMVNFDYHQMVKGGKAEKLHSVLKPQVQKFLDYGFFYFNGSEVQRCQSGTVRTNCLDCLDRTNSVQAFLGLEMLAKQLEALGLAEKPQLVTRFQEVFRSMWSVNGDSISKIYAGTGALEGKAKLKDGARSVTRTIQNNFFDSSKQEAIDVLLLGNTLNSDLADKARALLTTGSLRVSEQTLQSASSKVLKSMCENFYKYSKPKKIRVCVGTWNVNGGKQFRSIAFKNQTLTDWLLDAPKLAGIQEFQDKRSKPTDIFAIGFEEMVELNAGNIVSASTTNQKLWAVELQKTISRDNKYVLLASEQLVGVCLFVFIRPQHAPFIRDVAVDTVKTGMGGATGNKGAVAIRMLFHTTSLCFVCSHFAAGQSQVKERNEDFIEIARKLSFPMGRMLFSHDYVFWCGDFNYRIDLPNEEVKELIRQQNWDSLIAGDQLINQKNAGQVFRGFLEGKVTFAPTYKYDLFSDDYDTSEKCRTPAWTDRVLWRRRKWPFDRSAEDLDLLNASFQDESKILYTWTPGTLLHYGRAELKTSDHRPVVALIDIDIFEVEAEERQNIYKEVIAVQGPPDGTVLVSIKSSLPENNFFDDALIDELLQQFASFGEVILIRFVEDKMWVTFLEGSSALNVLSLNGKELLNRTITIALKSPDWIKNLEEEMSLEKISIALPSSTSSTLLGEDAEVAADFDMEGDVDDYSAEVEELLPQHLQPSSSSGLGTSPSSSPRTSPCQSPTISEGPVPSLPIRPSRAPSRTPGPPSAQSSPIDAQPATPLPQKDPAQPLEPKRPPPPRPVAPPTRPAPPQRPPPPSGARSPAPTRKEFGGIGAPPSPGVARREMEAPKSPGTTRKDNIGRSQPSPQAGLAGPGPAGYSTARPTIPPRAGVISAPQSHARASAGRLTPESQSKTSETSKGSTFLPEPLKPQAAFPPQSSLPPPAQRLQEPLVPVAAPMPQSGPQPNLETPPQPPPRSRSSHSLPSEASSQPQVKTNGISDGKRESPLKIDPFEDLSFNLLAVSKAQLSVQTSPVPTPDPKRLIQLPSATQSNVLSSVSCMPTMPPIPARSQSQENMRSSPNPFITGLTRTNPFSDRTAAPGNPFRAKSEESEATSWFSKEEPVTISPFPSLQPLGHNKSRASSSLDGFKDSFDLQGQSTLKISNPKGWVTFEEEEDFGVKGKSKSACSDLLGNQPSSFSGSNLTLNDDWNKGTNVSFCVLPSRRPPPPPVPLLPPGTSPPVDPFTTLASKASPTLDFTER",
"length": 1573,
"header": "sp|O43426-1|SYNJ1_HUMAN Isoform 1 of Synaptojanin-1 OS=Homo sapiens OX=9606 GN=SYNJ1 PE=1 SV=2 CANONICAL=O43426-1"
},
"locus": {
"chromosome": "21",
"start_pos": 32726895,
"end_pos": 32630998,
"strand": "+",
"evidence": [
{
"database": "Ensembl Transcript",
"id": "ENST00000674308.1",
"url": "https://www.ensembl.org/id/ENST00000674308.1"
},
{
"database": "Ensembl Peptide",
"id": "ENSP00000501426.1",
"url": "https://www.ensembl.org/id/ENSP00000501426.1"
}
]
}
},
{
"isoform_ac": "O43426-2",
"url": "",
"sequence": {
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},
{
"database": "Ensembl Peptide",
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"url": "https://www.ensembl.org/id/ENSP00000349903.3"
}
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},
{
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],
"pmid": ""
},
{
"name": "presynapse",
"id": "GO:0098793",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098793",
"evidence": [
{
"database": "UniProtKB",
"id": "O43426",
"url": "https://www.uniprot.org/uniprot/O43426"
}
],
"pmid": ""
},
{
"name": "clathrin coat of coated pit",
"id": "GO:0030132",
"url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030132",
"evidence": [
{
"database": "UniProtKB",
"id": "O43426",
"url": "https://www.uniprot.org/uniprot/O43426"
}
],
"pmid": ""
}
]
}
]
},
"pro_annotation": [],
"site_annotation": [
{
"start_pos": 1450,
"end_pos": 1452,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1515,
"end_pos": 1517,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 1527,
"end_pos": 1529,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 161,
"end_pos": 163,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 367,
"end_pos": 369,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 555,
"end_pos": 557,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 828,
"end_pos": 830,
"annotation": "n_glycosylation_sequon"
},
{
"start_pos": 961,
"end_pos": 963,
"annotation": "n_glycosylation_sequon"
}
],
"ptm_annotation": [],
"interactions": [],
"reactions": [
{
"id": "12316",
"name": "",
"equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q5PQT2-1",
"Q6AXQ4-1",
"A0A0G2JXT6-1",
"Q9ES21-1",
"A0A8I5Y1D5-1",
"A0A8I6AEZ2-1",
"D3ZW40-1",
"A0A8I5ZTB8-1",
"Q9Y216-1",
"Q13614-1",
"Q9Y217-1",
"Q13496-1",
"Q13615-1",
"Q13613-1",
"Q96EF0-1",
"Q9NTJ5-1",
"Q9NYA4-1",
"O15056-1",
"O43426-1",
"Q8VE11-1",
"Q8K296-1",
"Q9Z2C5-1",
"Q9Z2C4-1",
"Q9Z2D1-1",
"Q9Z2C9-1",
"Q9EP69-1",
"P32368-1",
"P47147-1",
"Q54PL3-1",
"Q54TD5-1",
"Q54YC2-1",
"Q1ZXD2-1",
"Q55AW9-1",
"Q9W0I6-1",
"Q7YU03-1",
"Q8MLR7-1",
"Q9VMI9-1",
"A1ZAS8-1"
],
"evidence": [
{
"id": "12316",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/12316"
}
]
},
{
"id": "22764",
"name": "",
"equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9JMC1-1",
"D3ZGS3-1",
"O55207-1",
"P97573-1",
"Q62910-1",
"Q9WVR1-1",
"Q9BT40-1",
"Q9NRR6-1",
"P32019-1",
"Q01968-1",
"Q92835-1",
"O15056-1",
"O43426-1",
"Q15735-1",
"Q92562-1",
"Q8K337-1",
"Q8C5L6-1",
"Q9JII1-1",
"Q6NVF0-1",
"Q9ES52-1",
"Q9D2G5-1",
"Q8CHC4-1",
"Q91WF7-1",
"P59644-1",
"P50942-1",
"Q12271-1",
"P40559-1",
"Q08227-1",
"Q9VTW2-1",
"Q5U0V7-1"
],
"evidence": [
{
"id": "22764",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/22764"
}
]
},
{
"id": "55652",
"name": "",
"equation": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate",
"summary": "",
"cellular_location": "",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9ES21-1",
"Q9NTJ5-1",
"O15056-1",
"O43426-1",
"Q9EP69-1",
"P32368-1",
"Q55AW9-1",
"Q9W0I6-1"
],
"evidence": [
{
"id": "55652",
"database": "Rhea",
"url": "https://www.rhea-db.org/rhea/55652"
}
]
},
{
"id": "R-HSA-1675836",
"name": "PI(3,5)P2 is dephosphorylated to PI3P by SYNJ at the plasma membrane",
"equation": "",
"summary": "At the plasma membrane, synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 aka synaptojanin-1 (SYNJ1) (Guo et al. 1999, Mani et al. 2007) and -2 (SYNJ2) (Malecz et al. 2000) dephosphorylate phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) to phosphatidylinositol 3-phosphate (PI3P).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [
"R-ALL-1806276"
],
"enzyme_list": [
"Q01968-1",
"O15056-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1675836",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1675836"
}
]
},
{
"id": "R-HSA-1675988",
"name": "PI4P is dephosphorylated to PI by SYNJ at the plasma membrane",
"equation": "",
"summary": "At the plasma membrane, synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 aka Synaptojanin-1 (SYNJ1) (Guo et al. 1999, Mani et al. 2007, Johenning et al. 2004) and -2 (SYNJ2) (Malecz et al. 2000) dephosphorylate phosphatidylinositol 4-phosphate (PI4P) phosphatidylinositol (PI). The SAC1 domains of SYNJ1 and SYNJ2 demonstrate 4-phosphatase activity.",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q01968-1",
"O15056-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1675988",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1675988"
}
]
},
{
"id": "R-HSA-1675994",
"name": "PI3P is dephosphorylated to PI by SYNJ/MTMs at the plasma membrane",
"equation": "",
"summary": "At the plasma membrane, synaptojanin-1 aka Synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 (SYNJ1) (Guo et al. 1999), -2 (SYNJ2) and some myotubularins (MTMs) dephosphorylate phosphatidylinositol 3-phosphate (PI3P) to phosphatidylinositol (PI). The MTMs involved are: myotubularin (MTM1) (Cao et al. 2007, Tronchere et al. 2004, Schaletzky et al. 2003, Laporte et al. 2002, Kim et al. 2002) and myotubularin-related proteins 1 (MTMR1) (Kim et al. 2002, Tronchere et al. 2004), 3 (MTMR3) (Kim et al. 2002, Zhao et al. 2001, Walker et al. 2001, Lorenzo et al. 2005), 6 (MTMR6) (Schaletzky et al. 2003, Kim et al. 2002, Choudhury et al. 2006), and 14 (MTMR14) (Tosch et al. 2006).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9Y217-1",
"Q8NCE2-1",
"O15056-1",
"Q13496-1",
"Q13615-1",
"Q13613-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1675994",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1675994"
}
]
},
{
"id": "R-HSA-1676177",
"name": "PI(4,5)P2 is dephosphorylated to PI4P by SYNJ/INPP5[1] at the plasma membrane",
"equation": "",
"summary": "At the plasma membrane, Synaptojanin-1 (SYNJ1) and -2 (SYNJ2), inositol polyphosphate 5-phosphatase K (INPP5K) aka SKIP, phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (INPP5J) aka PIPP dephosphorylate phosphatidylinositol 4,5-bisphosphate (PI(4,5)P2) to form phosphatidylinositol 4-phosphate (PI4P). SYNJ1/2 both have an N-terminal Sac1-like domain, a central 5-phosphatase domain and a C-terminal proline-rich segment, with this latter part being the most divergent part of the protein sequence.
The following lists the above proteins with their corresponding literature references: SYNJ1 (Johenning et al. 2004, Haffner et al. 1997, Guo et al. 1999, Mani et al. 2007), SYNJ2 (Malecz et al. 2000), INPP5K (Injuin et al. 2000, Gurung et al. 2003), and INPP5J (Gurung et al. 2003, Mochizuki & Takenawa 1999).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q9BT40-1",
"O15056-1",
"Q15735-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1676177",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676177"
}
]
},
{
"id": "R-HSA-1676203",
"name": "PI(3,5)P2 is dephosphorylated to PI5P by SYNJ/MTMs at the plasma membrane",
"equation": "",
"summary": "At the plasma membrane, synaptojanin-1 aka Synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 (SYNJ1) (Guo et al. 1999), -2 (SYNJ2) and some myotubularins (MTMs) dephosphorylate phosphatidylinositol 3,5-bisphosphate (PI(3,5)P2) to phosphatidylinositol 5-phosphate (PI5P). The MTMs involved are: myotubularin (MTM1) (Cao et al. 2007, Tronchere et al. 2004, Schaletzky et al. 2003, Laporte et al. 2002) and myotubularin-related proteins 1 (MTMR1) (Tronchere et al. 2004), 3 (MTMR3) (Walker et al. 2001, Lorenzo et al. 2005), 6 (MTMR6) (Schaletzky et al. 2003, Choudhury et al. 2006), and 14 (MTMR14) (Tosch et al. 2006).",
"cellular_location": "cytosol, plasma membrane",
"input_participant_list": [
"R-ALL-1806224"
],
"output_participant_list": [
"R-ALL-1806240"
],
"enzyme_list": [
"Q9Y217-1",
"Q8NCE2-1",
"O15056-1",
"Q13496-1",
"Q13615-1",
"Q13613-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1676203",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1676203"
}
]
},
{
"id": "R-HSA-1855174",
"name": "I(1,4,5)P3 is dephosphorylated to I(1,4)P2 by INPP5(4) in the cytosol",
"equation": "",
"summary": "A group of inositol phosphatases dephosphorylate inositol 1,4,5-trisphosphate (I(1,4,5)P3) to inositol 1,4-bisphosphate (I(1,4)P2). The group of inositol phosphatases involved are: inositol polyphosphate 5-phosphatase OCRL-1 (OCRL), phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (INPP5J), and synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 (SYNJ1).
The following lists the above proteins with their corresponding literature references: OCRL (Zhang et al. 1995, Zhang et al. 1998, Schmid et al. 2004); INPP5J (Mochizuki & Thompson 1999); SYNJ1 (Schmid et al. 2004).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q01968-1",
"Q15735-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1855174",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855174"
}
]
},
{
"id": "R-HSA-1855218",
"name": "I(1,3,4,5)P4 is dephosphorylated to I(1,3,4)P3 by INPP5[3]/ITPK1 in the cytosol",
"equation": "",
"summary": "A group of inositol phosphatases and the broad specificity enzyme inositol-tetrakisphosphate 1-kinase (ITPK1) dephosphorylate inositol 1,3,4,5-tetrakisphosphate (I(1,3,4,5)P4) to inositol 1,3,4-trisphosphate (I(1,3,4)P3). The group of inositol phosphatases involved are: inositol polyphosphate 5-phosphatase OCRL-1 (OCRL), phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 1 (INPP5D) aka SHIP1, phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase 2 (INPPL1) aka SHIP2, phosphatidylinositol 4,5-bisphosphate 5-phosphatase A (INPP5J) aka PIPP, and synaptic inositol-1,4,5-trisphosphate 5-phosphatase 1 (SYNJ1).
The following lists the above proteins with their corresponding literature references: OCRL (Chang et al. 2002, Zhang et al. 1995, Zhang et al. 1998, Schmid et al. 2004); INPP5D (Drayer et al. 1996, Kavanaugh et al. 1996); INPPL1 (Chi et al. 2004); INPP5J (Mochizuki & Thompson 1999); SYNJ1 (Schmid et al. 2004); ITPK1 (Ho et al. 2002).",
"cellular_location": "cytosol",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q13572-1",
"O15357-1",
"Q01968-1",
"Q15735-1",
"Q92835-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-1855218",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-1855218"
}
]
},
{
"id": "R-HSA-8868648",
"name": "SYNJ hydrolyze PI(4,5)P2 to PI(4)P",
"equation": "",
"summary": "Inositol-5-phosphatases like SYNJs and OCRL hydrolyze PI(4,5)P2 to PI(4)P. In the context of CME, this promotes the abortive turnover (disassembly) of some CCPs, contributes to the dynamin-mediated scission of the clathrin-coated vesicle neck, and promotes clathrin uncoating following scission (Guan et al, 2010; Cremona et al, 1999; Mani et al, 2007; Chang-Ileto et al, 2011; Antonescu et al, 2011; reviewed in McMahon and Boucrot, 2011; Daumke et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868648",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868648"
}
]
},
{
"id": "R-HSA-8868651",
"name": "Endophilins recruit synaptojanins to the clathrin-coated pit",
"equation": "",
"summary": "Synaptojanin (SYNJ) 1 and 2 are inositol-5-phosphatases that sequentially convert PI(4,5)P2 to PI(4)P and PI (Cremona et al 1999; reviewed in Billcliff and Lowe, 2014). Conversion of PI(4,5)P2 to PI(4)P and PI accompanies maturation of the clathrin-coated pit, and consistent with this, SYNJ proteins are recruited to the clathrin-coated pit through interactions with a number of endocytic proteins including ITSNs, EPS15, PACSIN proteins and endophilins, as well as with clathrin and AP-2 (Haffner et al, 1997; Cestra et al, 1999; Maire et al, 2004; Schuske et al, 2003; Verstreken et al, 2003; Modregger et al, 2000; Perera et al 2006; Milosevic et al, 2011; reviewed in Dittman and Ryan, 2009). SYJN1 exists in two isoforms, a longer 170 kDA isoform and a shorter 145 kDA isoform, with slightly different roles. The recruitment and activity of SYNJ1-145 appears to largely coincide with that of dynamin at later stages of vesicle formation, while the SYNJ1-170 isoform also plays earlier roles in stabilizing the growing clathrin-coated vesicle (Perera et al, 2006; Taylor et al, 2011; Antonescu et al, 2011). SYNJ-mediated hydrolysis of PI(4,5)P2 to PI(4)P is most efficient on highly curved, endophilin-coated tubules of the vesicle neck and contributes to dynamin-mediated membrane scission (Chang-Ileto et al, 2011; reviewed in Daumke et al, 2014; McMahon and Boucrot, 2011).
In addition to SYNJ1 and 2, other inositol-5-phosphatases are also recruited to the CCP at the time of scission. These include OCRL, which is recruited through interaction with clathrin as well as the RAB5 interactor APPL1 (Erdmann et al, 2007; Mao et al, 2009; Taylor et al, 2011; Nandez et al, 2014).",
"cellular_location": "plasma membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868651",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868651"
}
]
},
{
"id": "R-HSA-8868658",
"name": "HSPA8-mediated ATP hydrolysis promotes vesicle uncoating",
"equation": "",
"summary": "HSPA8 hydrolyzes ATP to promote dissociation of the clathrin coat from the vesicle (reviewed in Sousa and Lafer, 2015). Interaction of HSPA8 with the C-terminal tail of clathrin may sterically block re-stabilization of the clathrin coat, which is thought to undergo transient cycles of 'breathing', or loosening of the interactions between the triskelions (Barouch et al, 1997; Rapoport et al, 2008; Xing et al, 2010). Alternately, HSPA8 may destabilize the clathrin coat through intermolecular collisions with the coat (reveiwed in Sousa and Lafer, 2015). The HSPA8-clathrin interaction persists once clathrin has been removed from the vesicle. This is thought to preclude aberrant repolymerization of clathrin by sequestering free clathrin (Schlossman et al, 1984; reviewed in Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P11142-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868658",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868658"
}
]
},
{
"id": "R-HSA-8868659",
"name": "Clathrin recruits auxilins to the clathrin-coated vesicle",
"equation": "",
"summary": "After fission from the plasma membrane, auxilin proteins DNAJC6 and GAK are recruited to the vesicle through interaction with clathrin and phosphoinositides, in particular PI4P (Greener et al, 2000; Lee et al, 2006; Massol et al, 2006; Taylor et al, 2011; Scheele et al, 2001; Fotin et al, 2004a; Fotin et al, 2004b; Guan et al, 2010; reviewed in McMahon and Boucrot, 2011; Sousa and Lafer, 2015). Auxilin in turn recruits the ATPase HSPA8 (also known as HSC70) , which uses the energy from ATP hydrolysis to remove the clathrin-coat from the vesicle, priming it for fusion with a subsequent endosomal compartment (Schlossman et al, 1984; Ungewickell et al, 1995; Rappoport et al, 2008; Xing et al, 2010; Bocking et al, 2011; Rothnie et al, 2011; reviewed in McMahon and Boucrot, 2011; Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868659",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868659"
}
]
},
{
"id": "R-HSA-8868660",
"name": "Auxilin recruits HSPA8:ATP to the clathrin-coated vesicle",
"equation": "",
"summary": "HSPA8 (also known as HSC70) is recruited to the clathrin-coated vesicle through interaction with DNA J proteins GAK and DNAJC6 (Rapoport et al, 2008; Xing et al, 2010; reviewed in Sousa and Lafer, 2015). Recent studies examining the stoichiometry of uncoating predict between one and three HSPA8 molecules are required per clathrin triskelion for maximal uncoating in vitro (Bocking et al, 2011; Rothnie et al, 2011). After ATP hydrolysis, HSPA8 remains associated with the liberated clathrin, which prevents aberrant repolymerization and association of clathrin (Schlossman et al, 1984; reviewed in Sousa and Lafer, 2015).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P11142-1",
"P50570-1",
"P63261-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868660",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868660"
}
]
},
{
"id": "R-HSA-8868661",
"name": "Dynamin-mediated GTP hydrolysis promotes vesicle scission",
"equation": "",
"summary": "Self-assembly of dynamin around the neck of the emerging clathrin-coated vesicle stimulates its GTPase activity. This in turn promotes a conformational change in dynamin organization that is required for membrane fission (Hinshaw and Schmid, 1995; Sweitzer and Hinshaw, 1998; Takei et al, 1999; Yoshida et al, 2004; Chappie et al, 2010; Chappie et al, 2011; Ford et al, 2011; Faelber et al, 2011; reviewed in Daumke et al, 2014).",
"cellular_location": "plasma membrane, clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"Q01968-1",
"O15056-1",
"P13569-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8868661",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8868661"
}
]
},
{
"id": "R-HSA-8869438",
"name": "Dissociation of clathrin-associated proteins",
"equation": "",
"summary": "After the removal of the clathrin coat, it is likely that many of the proteins that contributed to vesicle formation are lost, although the timing and mechanism of this step are poorly understood (reviewed in McMahon and Boucrot, 2011; Lemmon, 2001).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8869438",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8869438"
}
]
},
{
"id": "R-HSA-8871193",
"name": "Dissociation of AAK1 and dephosphorylation of AP-2 mu2",
"equation": "",
"summary": "GAPVD1 binds the alpha adaptin ear domain of AP-2 mu2, activating its RAB5-directed GEF activity and displacing AAK1. AAK1 displacement results in a net dephosphorylation of the AP-2 mu2 subunit, destabilizing the interaction of AP-2 with the vesicle membrane (Sato et al, 2005; Smerdjieva et al, 2008). In addition, RAB5 contributes to PI(4,5)P2 turnover through recruitment of a PI3K or PI phosphatase, and this also destabilizes the interaction of AP-2 with the membrane (Smerdjieva et al, 2008; Christoforidis et al, 1999; Shin et al, 2005).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8871193",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8871193"
}
]
},
{
"id": "R-HSA-8871194",
"name": "RAB5 and GAPVD1 bind AP-2",
"equation": "",
"summary": "RAB5 is a small GTPase that is implicated in clathrin-mediated endocytosis (Chavrier et al, 1990; McLauchlan et al, 1998; Shin et al, 2002; Taylor et al, 2011; reviewed in Stenmark, 2009; Wandiger-Ness and Zerial, 2014). Recent studies have shown that RAB5 and its associated GEF GAPVD1 may contribute to AP-2 uncoating by displacing AAK1 and promoting the net dephosphorylation of the AP-2 mu2 subunit. This is predicted to destabilize interactions with the plasma membrane and promote uncoating (Sato et al, 2005; Hunker et al, 2006; Smerdjieva et al, 2008). RAB5 and GAPVD1 also increase PI(4,5)P2 turnover, likely through recruitment of a class I PI3K or a PI phosphatase (Christoforidis et al, 1999; Shin et al, 2005).",
"cellular_location": "clathrin-coated endocytic vesicle membrane",
"input_participant_list": [],
"output_participant_list": [],
"enzyme_list": [
"P51148-1",
"Q05193-1",
"Q9UQ16-1",
"P00533-1",
"P22681-1",
"P60709-1",
"Q2M2I8-1",
"P50570-1",
"P63261-1",
"P20339-1",
"O14976-1",
"Q01968-1",
"O15056-1",
"P61020-1",
"P13569-1",
"O75061-1",
"O43426-1"
],
"evidence": [
{
"id": "R-HSA-8871194",
"database": "Reactome",
"url": "https://www.reactome.org/PathwayBrowser/#R-HSA-8871194"
}
]
}
],
"reaction_participants": [
{
"participant_id": "R-ALL-1806224",
"participant_name": "PI(3,5)P2 [plasma membrane]",
"crossref": [
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
},
{
"id": "57923",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-1806240",
"participant_name": "PI5P [plasma membrane]",
"crossref": [
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
},
{
"id": "57795",
"database": "ChEBI",
"url": ""
}
]
},
{
"participant_id": "R-ALL-1806276",
"participant_name": "PI3P [plasma membrane]",
"crossref": [
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
},
{
"id": "58088",
"database": "ChEBI",
"url": ""
}
]
}
],
"reaction_enzymes": [
{
"uniprot_ac": "A0A0G2JXT6",
"gene_name": "Mtmr6",
"activity": [
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "A0A0G2JXT6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JXT6"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "",
"evidence": [
{
"id": "A0A0G2JXT6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JXT6"
}
]
},
{
"ec_number": "3.1.3.95",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate.",
"evidence": [
{
"id": "A0A0G2JXT6",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A0G2JXT6"
}
]
}
]
},
{
"uniprot_ac": "A0A8I5Y1D5",
"gene_name": "Mtmr1",
"activity": [
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "A0A8I5Y1D5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5Y1D5"
}
]
},
{
"ec_number": "3.1.3.95",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate.",
"evidence": [
{
"id": "A0A8I5Y1D5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5Y1D5"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "",
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{
"id": "A0A8I5Y1D5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5Y1D5"
}
]
},
{
"ec_number": "3.1.3.95",
"activity": "",
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{
"id": "A0A8I5Y1D5",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5Y1D5"
}
]
}
]
},
{
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{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "A0A8I5ZTB8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZTB8"
}
]
},
{
"ec_number": "3.1.3.95",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-5-phosphate) + phosphate.",
"evidence": [
{
"id": "A0A8I5ZTB8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZTB8"
}
]
},
{
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{
"id": "A0A8I5ZTB8",
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"url": "https://www.uniprot.org/uniprot/A0A8I5ZTB8"
}
]
},
{
"ec_number": "3.1.3.95",
"activity": "",
"evidence": [
{
"id": "A0A8I5ZTB8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I5ZTB8"
}
]
}
]
},
{
"uniprot_ac": "A0A8I6AEZ2",
"gene_name": "Mtmr7",
"activity": [
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "A0A8I6AEZ2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AEZ2"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "",
"evidence": [
{
"id": "A0A8I6AEZ2",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A0A8I6AEZ2"
}
]
}
]
},
{
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"gene_name": "EDTP",
"activity": [
{
"ec_number": "3.1.3.48",
"activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.",
"evidence": [
{
"id": "A1ZAS8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1ZAS8"
}
]
},
{
"ec_number": "3.1.3.64",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3-phosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol) + phosphate.",
"evidence": [
{
"id": "A1ZAS8",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/A1ZAS8"
}
]
}
]
},
{
"uniprot_ac": "D3ZGS3",
"gene_name": "Ocrl",
"activity": [
{
"ec_number": "3.1.3.36",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
"evidence": [
{
"id": "D3ZGS3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZGS3"
}
]
},
{
"ec_number": "3.1.3.36",
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"id": "D3ZGS3",
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"url": "https://www.uniprot.org/uniprot/D3ZGS3"
}
]
},
{
"ec_number": "3.1.3.86",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4,5-trisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-3,4-bisphosphate) + phosphate.",
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{
"id": "D3ZGS3",
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}
]
},
{
"ec_number": "3.1.3.56",
"activity": "1D-myo-inositol 1,4,5-trisphosphate + H2O = 1D-myo-inositol 1,4-bisphosphate + phosphate.",
"evidence": [
{
"id": "D3ZGS3",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/D3ZGS3"
}
]
},
{
"ec_number": "3.1.3.56",
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{
"id": "D3ZGS3",
"database": "UniProtKB",
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}
]
}
]
},
{
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}
]
},
{
"ec_number": "3.1.3.64",
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{
"id": "D3ZW40",
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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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{
"ec_number": "3.1.3.86",
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{
"id": "O15357",
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}
]
},
{
"ec_number": "3.1.3.86",
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"id": "O15357",
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]
}
]
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{
"id": "O43426",
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}
]
},
{
"ec_number": "3.1.3.64",
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{
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}
]
},
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"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
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]
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{
"ec_number": "3.1.3.36",
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"id": "O43426",
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]
}
]
},
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{
"ec_number": "3.1.3.36",
"activity": "a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol-4,5-bisphosphate) + H2O = a 1,2-diacyl-sn-glycero-3-phospho-(1D-myo-inositol 4-phosphate) + phosphate.",
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{
"id": "O55207",
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}
]
},
{
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]
}
]
},
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{
"ec_number": "3.1.3.48",
"activity": "H2O + O-phospho-L-tyrosyl-[protein] = L-tyrosyl-[protein] + phosphate.",
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"id": "O75061",
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"url": "https://www.uniprot.org/uniprot/O75061"
}
]
},
{
"ec_number": "3.1.3.48",
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"id": "O75061",
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}
]
}
]
},
{
"uniprot_ac": "P00533",
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{
"ec_number": "2.7.10.1",
"activity": "ATP + L-tyrosyl-[protein] = ADP + H(+) + O-phospho-L-tyrosyl-[protein].",
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{
"id": "P00533",
"database": "UniProtKB",
"url": "https://www.uniprot.org/uniprot/P00533"
}
]
},
{
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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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},
{
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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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}
]
},
{
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{
"id": "Q08227",
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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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]
},
{
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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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{
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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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}
]
},
{
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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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{
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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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{
"ec_number": "3.1.3.86",
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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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{
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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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{
"ec_number": "3.1.3.86",
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{
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}
]
},
{
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{
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}
]
}
]
},
{
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{
"ec_number": "3.1.3.56",
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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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{
"ec_number": "3.1.3.64",
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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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]
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{
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{
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