{ "uniprot_canonical_ac": "A0A0R4IBM0-1", "uniprot_ac": "A0A0R4IBM0", "uniprot_id": "A0A0R4IBM0_DANRE", "mass": { "chemical_mass": 79740.0, "monoisotopic_mass": 79740.0 }, "refseq": { "ac": "NP_001264015", "name": "pro-neuregulin-1, membrane-bound isoform isoform IIb12", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" }, "gene_names": [ { "name": "nrg1", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0", "id": "A0A0R4IBM0" }, { "name": "nrg1", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015", "id": "NP_001264015" }, { "name": "wu:fm70e01", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015", "id": "NP_001264015" }, { "name": "wu:fm70e01", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0", "id": "A0A0R4IBM0" } ], "protein_names": [ { "name": "Neuregulin 1", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#names_and_taxonomy", "id": "A0A0R4IBM0" }, { "name": "Pro-neuregulin-1, membrane-bound isoform isoform IIb12", "resource": "UniProtKB", "type": "synonym", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#names_and_taxonomy", "id": "A0A0R4IBM0" }, { "name": "neuregulin1; neuregulin 1 type I isoform; neuregulin 1 type III isoform; neuregulin 1 type II isoform", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015", "id": "NP_001264015" }, { "name": "pro-neuregulin-1, membrane-bound isoform isoform IIb12", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015", "id": "NP_001264015" } ], "function": [ { "annotation": "##Evidence-Data-START## Transcript exon combination :: FJ593488.1, SRR32588719.4060736.1 [ECO:0000332] RNAseq introns :: mixed sample support SAMEA3505370, SAMEA3505371 [ECO:0006172] ##Evidence-Data-END## VALIDATED REFSEQ: This record has undergone validation or preliminary review. The reference sequence was derived from JBMGRA010000010.1. Transcript Variant: This variant (4) differs in the 5' UTR and has multiple differences in the coding region but maintains the reading frame, compared to variant 1. The resulting protein (isoform IIb12) is longer and has a distinct N-terminus compared to isoform 1. Sequence Note: The RefSeq transcript and protein were derived from genomic sequence to make the sequence consistent with the reference genome assembly. The genomic coordinates used for the transcript record were based on alignments. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.", "evidence": [ { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" } ] }, { "annotation": "Disc1 and nrg1 function in controlling development of oligodendrocytes and neurones from olig2-expressing precursor cells.", "evidence": [ { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" }, { "database": "PubMed", "id": "18996920", "url": "https://glygen.org/publication/PubMed/18996920" } ] }, { "annotation": "ErbB3 signaling is required for normal migration of trunk, but not cranial, neural crest cells Erratum:[Development. 2008 Sep;135(17):2993]", "evidence": [ { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" }, { "database": "PubMed", "id": "18599505", "url": "https://glygen.org/publication/PubMed/18599505" } ] }, { "annotation": "NRG1 and PI3K functionally interact with ErbB2 and ErbB3 during regeneration", "evidence": [ { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" }, { "database": "PubMed", "id": "19133254", "url": "https://glygen.org/publication/PubMed/19133254" } ] } ], "disease": [ { "disease_id": "DOID:0050742", "recommended_name": { "id": "DOID:0050742", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050742", "name": "nicotine dependence", "description": "A substance dependence that is characterized by a physical dependence on nicotine." }, "synonyms": [ { "id": "DOID:0050742", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050742", "name": "tobacco use disorder", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050742", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050742" } ] }, { "disease_id": "DOID:0050848", "recommended_name": { "id": "DOID:0050848", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050848", "name": "obstructive sleep apnea", "description": "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep." }, "synonyms": [ { "id": "DOID:0050848", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050848", "name": "obstructive sleep apnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea syndrome", "description": "Cessation of air flow during sleep due to upper airway obstruction." }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep apnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "Apneas, obstructive sleep", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "OSAHS", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "Osa", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "apnea, obstructive sleep", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "obstructive sleep Apneas", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep Apneas, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea hypopnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea syndrome, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "sleep apnea/hypopnea syndrome", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, obstructive sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, sleep apnea, obstructive", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "syndrome, upper airway resistance, sleep apnea", "description": "" }, { "id": "MONDO:0007147", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007147", "name": "upper airway resistance sleep apnea syndrome", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0050848", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0050848" } ] }, { "disease_id": "DOID:0070082", "recommended_name": { "id": "DOID:0070082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070082", "name": "schizophrenia 6", "description": "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21." }, "synonyms": [ { "id": "DOID:0070082", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070082", "name": "SCZD6", "description": "" }, { "id": "MONDO:0011280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011280", "name": "schizophrenia 6", "description": "A schizophrenia that has material basis in an autosomal dominant mutation of SCZD6 on chromosome 8p21." }, { "id": "MONDO:0011280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011280", "name": "SCZD6", "description": "" }, { "id": "MONDO:0011280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011280", "name": "schizophrenia 6", "description": "" }, { "id": "MONDO:0011280", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011280", "name": "schizophrenia susceptibility locus, chromosome 8P-related", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "0070082", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0070082" } ] }, { "disease_id": "DOID:10595", "recommended_name": { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "Charcot-Marie-Tooth disease", "description": "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm." }, "synonyms": [ { "id": "DOID:10595", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10595", "name": "CMT - Charcot-Marie-Tooth disease", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "Charcot-Marie-Tooth disease type 1A (CMT1A) is a type ofinherited neurological disorder that affects the peripheral nerves. Affected individuals experience weakness and wasting (atrophy) of the muscles of the lower legs beginning in adolescence; later they experience hand weakness and sensory loss. CMT1A is caused byhaving an extra copy (a duplication) of the PMP22 gene. It is inherited in an autosomal dominant manner. Treatment for this condition may include physical therapy ; occupational therapy ; braces and other orthopedic devices; orthopedic surgery;and pain medications." }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth syndrome type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "hereditary motor and sensory neuropathy 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "microduplication 17p12", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "CMT 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot Marie Tooth disease type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "Charcot-Marie-Tooth neuropathy, type 1A", "description": "" }, { "id": "MONDO:0007309", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007309", "name": "HMSN 1A", "description": "" }, { "id": "MIM:118220", "resource": "MIM", "url": "https://www.omim.org/entry/118220", "name": "Charcot-Marie-Tooth disease, demyelinating, type 1A", "description": "Charcot-Marie-Tooth disease, demyelinating, type 1A" } ], "unlinked_id_list": [ "DOID:0050538", "DOID:0050542", "DOID:0050541" ], "evidence": [ { "id": "10595", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10595" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "10652", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1307", "recommended_name": { "id": "DOID:1307", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1307", "name": "dementia", "description": "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "1307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1307" } ] }, { "disease_id": "DOID:14069", "recommended_name": { "id": "DOID:14069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14069", "name": "cerebral malaria", "description": "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species." }, "synonyms": [ { "id": "DOID:14069", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:14069", "name": "Malarial encephalitis", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "14069", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:14069" } ] }, { "disease_id": "DOID:1470", "recommended_name": { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depressive disorder", "description": "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality." }, "synonyms": [ { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "clinical depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "recurrent major depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "single major depressive episode", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "unipolar depression", "description": "" }, { "id": "DOID:1470", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1470", "name": "major depression", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "MDD2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "major depressive disorder type 2", "description": "" }, { "id": "MONDO:0012100", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012100", "name": "unipolar depression 2", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "MDD1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "major depressive disorder type 1", "description": "" }, { "id": "MONDO:0012050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012050", "name": "unipolar depression 1", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1470", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1470" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "1574", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] }, { "disease_id": "DOID:1849", "recommended_name": { "id": "DOID:1849", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1849", "name": "cannabis dependence", "description": "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "1849", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:1849" } ] }, { "disease_id": "DOID:224", "recommended_name": { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient cerebral ischemia", "description": "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death." }, "synonyms": [ { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "TIA - Transient ischaemic attack", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient cerebral ischaemia", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "Transient ischemic attacks", "description": "" }, { "id": "DOID:224", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:224", "name": "transient ischemic attack", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "224", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:224" } ] }, { "disease_id": "DOID:2394", "recommended_name": { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian cancer", "description": "A female reproductive organ cancer that is located_in the ovary." }, "synonyms": [ { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant Ovarian tumor", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "malignant tumour of ovary", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovarian neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "ovary neoplasm", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "primary ovarian cancer", "description": "" }, { "id": "DOID:2394", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2394", "name": "tumor of the Ovary", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "OVCAS1", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to", "description": "" }, { "id": "MONDO:0011931", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0011931", "name": "ovarian cancer, susceptibility to, 1", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "A primary or metastatic malignant neoplasm involving the ovary. Most primary malignant ovarian neoplasms are either carcinomas (serous, mucinous, or endometrioid adenocarcinomas) or malignant germ cell tumors. Metastatic malignant neoplasms to the ovary include carcinomas, lymphomas, and melanomas." }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "cancer of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant neoplasm of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovarian tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant ovary neoplasm", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumor of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "malignant tumour of the ovary", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, somatic", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumor", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian malignant tumour", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovary cancer", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "ovarian cancer, epithelial", "description": "" }, { "id": "MONDO:0008170", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008170", "name": "primary ovarian cancer", "description": "" }, { "id": "MIM:167000", "resource": "MIM", "url": "https://www.omim.org/entry/167000", "name": "Ovarian cancer", "description": "Ovarian cancer" } ], "unlinked_id_list": [ "DOID:2151" ], "evidence": [ { "id": "2394", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2394" } ] }, { "disease_id": "DOID:2468", "recommended_name": { "id": "DOID:2468", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2468", "name": "psychotic disorder", "description": "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality." }, "synonyms": [ { "id": "DOID:2468", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:2468", "name": "mental or behavioural disorder", "description": "" } ], "unlinked_id_list": [ "DOID:8646", "DOID:1203" ], "evidence": [ { "id": "2468", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:2468" } ] }, { "disease_id": "DOID:302", "recommended_name": { "id": "DOID:302", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:302", "name": "substance abuse", "description": "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning." }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "302", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:302" } ] }, { "disease_id": "DOID:3312", "recommended_name": { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression." }, "synonyms": [ { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic Bipolar Affective disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic Depressive disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic bipolar I disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar depression", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar disorder manic phase", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "manic depression", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "manic disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "mixed bipolar disorder", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "3312", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ] }, { "disease_id": "DOID:332", "recommended_name": { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "amyotrophic lateral sclerosis", "description": "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing." }, "synonyms": [ { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "ALS", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "Lou Gehrig's disease", "description": "" }, { "id": "DOID:332", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:332", "name": "motor neuron disease, bulbar", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "ALS1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis type 1", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "FALS", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal dominant amyotrophic lateral sclerosis 1, autosomal recessive, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, autosomal recessive", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis 1, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, autosomal dominant", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, familial", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, sporadic, included", "description": "" }, { "id": "MONDO:0007103", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007103", "name": "amyotrophic lateral sclerosis, susceptibility to", "description": "" }, { "id": "MIM:105400", "resource": "MIM", "url": "https://www.omim.org/entry/105400", "name": "Amyotrophic lateral sclerosis 1", "description": "Amyotrophic lateral sclerosis 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "332", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:332" } ] }, { "disease_id": "DOID:3525", "recommended_name": { "id": "DOID:3525", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3525", "name": "middle cerebral artery infarction", "description": "" }, "synonyms": [], "unlinked_id_list": [], "evidence": [ { "id": "3525", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:3525" } ] }, { "disease_id": "DOID:399", "recommended_name": { "id": "DOID:399", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:399", "name": "tuberculosis", "description": "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes." }, "synonyms": [], "unlinked_id_list": [ "DOID:2149" ], "evidence": [ { "id": "399", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:399" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "unlinked_id_list": [], "evidence": [ { "id": "5419", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:5844", "recommended_name": { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "myocardial infarction", "description": "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia." }, "synonyms": [ { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "Myocardial infarct", "description": "" }, { "id": "DOID:5844", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5844", "name": "heart attack", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "myocardial infarction, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012058", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012058", "name": "Mci2", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "5844", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:5844" } ] }, { "disease_id": "DOID:684", "recommended_name": { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "hepatocellular carcinoma", "description": "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver." }, "synonyms": [ { "id": "DOID:684", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:684", "name": "Hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "A malignant tumor that arises from hepatocytes. Hepatocellular carcinoma is relatively rare in the United States but very common in all African countries south of the Sahara and in Southeast Asia. Most cases are seen in patients over the age of 50 years, but this tumor can also occur in younger individuals and even in children. Hepatocellular carcinoma is more common in males than females and is associated with hepatitis B, hepatitis C, chronic alcohol abuse and cirrhosis. Serum elevation of alpha-fetoprotein occurs in a large percentage of patients with hepatocellular carcinoma. Grossly, hepatocellular carcinoma may present as a single mass, as multiple nodules, or as diffuse liver involvement. Microscopically, there is a wide range of differentiation from tumor to tumor (well differentiated to poorly differentiated tumors). Hepatocellular carcinomas quickly metastasize to regional lymph nodes and lung. The overall median survival of untreated liver cell carcinoma is about 4 months. The most effective treatment of hepatocellular carcinoma is complete resection of the tumor. Lately, an increasing number of tumors have been treated with liver transplantation." }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "HCC", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "cancer, hepatocellular", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "carcinoma, hepatocellular, malignant", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular adenocarcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular cancer, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, childhood type, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatocellular carcinoma, somatic", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell cancer (hepatocellular carcinoma)", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cell carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "primary carcinoma of the liver cells", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult hepatoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "adult primary hepatocellular carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "hepatoblastoma caused by somatic mutation", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver and intrahepatic bile duct carcinoma", "description": "" }, { "id": "MONDO:0007256", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007256", "name": "liver cancer", "description": "" }, { "id": "MIM:114550", "resource": "MIM", "url": "https://www.omim.org/entry/114550", "name": "Hepatocellular carcinoma", "description": "Hepatocellular carcinoma" } ], "unlinked_id_list": [], "evidence": [ { "id": "684", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:684" } ] }, { "disease_id": "DOID:9505", "recommended_name": { "id": "DOID:9505", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9505", "name": "cannabis abuse", "description": "A substance abuse that involves the recurring use of cannabis despite negative consequences." }, "synonyms": [ { "id": "DOID:9505", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9505", "name": "marijuana abuse", "description": "" } ], "unlinked_id_list": [], "evidence": [ { "id": "9505", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:9505" } ] } ], "snv": [], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Danio rerio", "taxid": 7955, "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "gene": [ { "name": "nrg1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0", "locus": {} } ], "crossref": [ { "id": "ZFIN:ZDB-GENE-050302-113", "url": "https://alliancegenome.org/gene/ZFIN:ZDB-GENE-050302-113", "database": "AGR", "categories": [ "Protein Classification" ] }, { "id": "ENSDARG00000104314", "url": "https://bgee.org/?page=gene&gene_id=ENSDARG00000104314", "database": "Bgee", "categories": [ "Gene Expression" ] }, { "id": "cd00054", "url": "https://www.ncbi.nlm.nih.gov/Structure/cdd/cddsrv.cgi?uid=cd00054", "database": "CDD", "categories": [ "Protein Classification" ] }, { "id": "796461", "url": "https://www.ncbi.nlm.nih.gov/gene/796461", "database": "GeneID", "categories": [ "Genome Annotation" ] }, { "id": "IPR000742", "url": "https://www.ebi.ac.uk/interpro/entry/IPR000742", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR002154", "url": "https://www.ebi.ac.uk/interpro/entry/IPR002154", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003598", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003598", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR003599", "url": "https://www.ebi.ac.uk/interpro/entry/IPR003599", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR007110", "url": "https://www.ebi.ac.uk/interpro/entry/IPR007110", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013098", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013098", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR013783", "url": "https://www.ebi.ac.uk/interpro/entry/IPR013783", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR036179", "url": "https://www.ebi.ac.uk/interpro/entry/IPR036179", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "IPR040180", "url": "https://www.ebi.ac.uk/interpro/entry/IPR040180", "database": "InterPro", "categories": [ "Protein Classification" ] }, { "id": "dre:796461", "url": "https://www.genome.jp/dbget-bin/www_bget?dre:796461", "database": "KEGG Pathway", "categories": [ "Enzyme and Pathway" ] }, { "id": "RVHQVWA", "url": "https://omabrowser.org/oma/group/RVHQVWA/", "database": "OMA", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IBM0", "url": "https://www.orthodb.org/?gene=A0A0R4IBM0", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IDP7", "url": "https://www.orthodb.org/?gene=A0A0R4IDP7", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IFE6", "url": "https://www.orthodb.org/?gene=A0A0R4IFE6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A0R4IPH3", "url": "https://www.orthodb.org/?gene=A0A0R4IPH3", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A1B4Z255", "url": "https://www.orthodb.org/?gene=A0A1B4Z255", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8M3B1T9", "url": "https://www.orthodb.org/?gene=A0A8M3B1T9", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8M3B1W6", "url": "https://www.orthodb.org/?gene=A0A8M3B1W6", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "A0A8M3B955", "url": "https://www.orthodb.org/?gene=A0A8M3B955", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "B3DK99", "url": "https://www.orthodb.org/?gene=B3DK99", "database": "OrthoDB", "categories": [ "Protein Classification" ] }, { "id": "PTHR11100", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11100", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PTHR11100:SF7", "url": "http://www.pantherdb.org/panther/family.do?clsAccession=PTHR11100:SF7", "database": "PANTHER", "categories": [ "Protein Classification" ] }, { "id": "PF02158", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF02158", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "PF07679", "url": "https://www.ebi.ac.uk/interpro/entry/pfam/PF07679", "database": "Pfam", "categories": [ "Protein Classification" ] }, { "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015", "database": "RefSeq", "categories": [ "Protein" ] }, { "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IBM0-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IDP7", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP7", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IDP7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IDP7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IFE6", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IFE6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IFE6-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IFE6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A0R4IPH3-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B4Z255", "url": "https://www.uniprot.org/uniprotkb/A0A1B4Z255", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A1B4Z255-1", "url": "https://www.uniprot.org/uniprotkb/A0A1B4Z255-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B1T9", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1T9", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B1T9-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1T9-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B1W6", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1W6", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B1W6-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B1W6-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B955", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B955", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0A8M3B955-1", "url": "https://www.uniprot.org/uniprotkb/A0A8M3B955-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AB32TZ68", "url": "https://www.uniprot.org/uniprotkb/A0AB32TZ68", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "A0AB32TZ68-1", "url": "https://www.uniprot.org/uniprotkb/A0AB32TZ68-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3DK99", "url": "https://www.uniprot.org/uniprotkb/B3DK99", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "B3DK99-1", "url": "https://www.uniprot.org/uniprotkb/B3DK99-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "ZDB-GENE-050302-113", "url": "https://zfin.org/ZDB-GENE-050302-113", "database": "ZFIN", "categories": [ "Protein", "Organism-specific" ] } ], "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKHLGIEFMEAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 730, "header": "tr|A0A0R4IBM0-1|A0A0R4IBM0_DANRE Isoform 1 of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "isoforms": [ { "isoform_ac": "A0A0R4IBM0-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A0R4IBM0-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKHLGIEFMEAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 730, "header": "tr|A0A0R4IBM0-1|A0A0R4IBM0_DANRE Isoform 1 of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A0R4IDP7-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A0R4IDP7-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPPGFTGNRCQNRDPVRVVDHKQAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 725, "header": "tr|A0A0R4IDP7-1|A0A0R4IDP7_DANRE Computationally mapped isoform of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A0R4IFE6-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A0R4IFE6-1", "sequence": { "sequence": "MKSEAAEDISAGLASQETPSDALSEVATKETPEEAGENVPGDGDSSERGPLGCVPLPAVACCCVCLELERVNNCVRSEKICILPILACLLSLALCTAGLKWVFVDKIFEYEPPTHLDLKRIGQDPIINSDFTQNPVSVSPSSVTLSVPGQPKVFVEGDTTAGPFEVPPSKVAGFTPTAAVTVHPNSVSPPSPKSTFRPVQNDTANQLPTLESNEIIPKTSATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPPGFTGNRCQNRDPVRVVDHKQAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 687, "header": "tr|A0A0R4IFE6-1|A0A0R4IFE6_DANRE Computationally mapped isoform of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A0R4IPH3-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A0R4IPH3-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 722, "header": "tr|A0A0R4IPH3-1|A0A0R4IBM0_DANRE Computationally mapped isoform of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A1B4Z255-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A1B4Z255-1", "sequence": { "sequence": "MAEVKAGKEGKSGDKKKDKESVRSNKPDNSPQAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKHLGIEFMEAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 604, "header": "tr|A0A1B4Z255-1|A0A1B4Z255_DANRE Computationally mapped isoform of Neuregulin1 OS=Danio rerio OX=7955 GN=nrg1 PE=2 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A8M3B1T9-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A8M3B1T9-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKHLGIEFMAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 729, "header": "tr|A0A8M3B1T9-1|A0A8M3B1T9_DANRE Computationally mapped isoform of Pro-neuregulin-1, membrane-bound isoform isoform X1 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A8M3B1W6-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A8M3B1W6-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPPGFTGNRCQNRDPVRVVDHKPEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 724, "header": "tr|A0A8M3B1W6-1|A0A8M3B1W6_DANRE Computationally mapped isoform of Pro-neuregulin-1, membrane-bound isoform isoform X2 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0A8M3B955-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0A8M3B955-1", "sequence": { "sequence": "MKSEAAEDISAGLASQETPSDALSEVATKETPEEAGENVPGDGDSSERGPLGCVPLPAVACCCVCLELERVNNCVRSEKICILPILACLLSLALCTAGLKWVFVDKIFEYEPPTHLDLKRIGQDPIINSDFTQNPVSVSPSSVTLSVPGQPKVFVEGDTTAGPFEVPPSKVAGFTPTAAVTVHPNSVSPPSPKSTFRPVQNDTANQLPTLESNEIIPKTSATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYKHLGIEFMEAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 692, "header": "tr|A0A8M3B955-1|A0A8M3B955_DANRE Computationally mapped isoform of Pro-neuregulin-1, membrane-bound isoform isoform X4 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "A0AB32TZ68-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#A0AB32TZ68-1", "sequence": { "sequence": "MAILPGRSSSLTVSVLYGAAVCLSLWTRVVRCGSFACSPPGASVQELARRSGVVFEGKLQEEERAERNWTETPMNASRQVRVRVQQVWQLKAGGLIKDSVVSLVWFEGGRCFQLNTGIRYMFFIEPTNDTSVFTAVFPPVETKRTVRKDVSQVLCQDCAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPNEFTGDRCQHYVMASFYTEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 721, "header": "tr|A0AB32TZ68-1|A0AB32TZ68_DANRE Computationally mapped isoform of Pro-neuregulin-1, membrane-bound isoform isoform X3 OS=Danio rerio OX=7955 GN=nrg1 PE=3 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} }, { "isoform_ac": "B3DK99-1", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0/entry#B3DK99-1", "sequence": { "sequence": "MAEVKAGKEGKSGDKKKDKESVRSNKPDNSPQAEPKLKNLRSVTVEDGKKTVLKCEILAGNPAPNVKWYKNGKELTGKNKPKSIKIKKKKQGKISELLIRKSTEGDAGLYTCEAVNSLGKTNTTANLFIINTATSTTPSAKTSSHVTPCNESEKEYCVNHGKCFTLEVTPGNIRRLCRCPPGFTGNRCQNRDPVRVVDHKQAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRERNAAAKGPQHPHPPPENLQLVNHYMPTNPVPAHMTDKEAETSLSTNEFTSPTHPSTAITHSSSQCWSNGKAESVVSDSHAVLMKPSAENCQHGTPSHRGRLNATGGVHQLNDYLKNSREAQGSNRDSPYSERYVSAMTTPTRLSPVGLLSPVTPSSPPSEMSAPLSSLATSVPSMLTSPSGEEERPLLFRTPPILRDKSASTQGRKSGHNLRNSAHYNHGLDIPSPPPSPLHIEEEIDCLEQYKSTSVPSSAPHSPSAARTQPSGQAAPEQAVSGSNSESSSSESETEDERVGEDTPFLGLQNPLAAGSLVLDGLEGSRTNPALHLSPQHELQNRLTAVMANQDPIAV", "length": 599, "header": "tr|B3DK99-1|B3DK99_DANRE Computationally mapped isoform of Neuregulin 1 OS=Danio rerio OX=7955 GN=nrg1 PE=2 SV=1 CANONICAL=A0A0R4IBM0-1" }, "locus": {} } ], "glycosylation": [], "phosphorylation": [], "glycation": [], "keywords": [], "publication": [ { "title": "Notch1b and neuregulin are required for specification of central cardiac conduction tissue.", "journal": "Development", "date": "2006", "authors": "Milan David J, Giokas Andrea C, Serluca Fabrizio C, Peterson Randall T, MacRae Calum A", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "16481353", "url": "https://glygen.org/publication/PubMed/16481353" } ] }, { "title": "santa and valentine pattern concentric growth of cardiac myocardium in the zebrafish.", "journal": "Development", "date": "2006", "authors": "Mably John D, Chuang Lesley P, Serluca Fabrizio C, Mohideen Manzoor-Ali P K, Chen Jau-Nian, Fishman Mark C", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "16873582", "url": "https://glygen.org/publication/PubMed/16873582" } ] }, { "title": "Neuregulin-mediated ErbB3 signaling is required for formation of zebrafish dorsal root ganglion neurons.", "journal": "Development", "date": "2008", "authors": "Honjo Yasuko, Kniss Jonathan, Eisen Judith S", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" }, { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" } ], "reference": [ { "type": "PubMed", "id": "18599505", "url": "https://glygen.org/publication/PubMed/18599505" } ] }, { "title": "Disrupted-in-schizophrenia 1 and neuregulin 1 are required for the specification of oligodendrocytes and neurones in the zebrafish brain.", "journal": "Hum. Mol. Genet.", "date": "2009", "authors": "Wood Jonathan D, Bonath Franziska, Kumar Shashvita, Ross Christopher A, Cunliffe Vincent T", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" }, { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" } ], "reference": [ { "type": "PubMed", "id": "18996920", "url": "https://glygen.org/publication/PubMed/18996920" } ] }, { "title": "ErbB2 and ErbB3 regulate amputation-induced proliferation and migration during vertebrate regeneration.", "journal": "Dev. Biol.", "date": "2009", "authors": "Rojas-Mu\u00f1oz Agustin, Rajadhyksha Shibani, Gilmour Darren, van Bebber Frauke, Antos Christopher, Rodr\u00edguez Esteban Concepci\u00f3n, N\u00fcsslein-Volhard Christiane, Izpis\u00faa Belmonte Juan Carlos", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" }, { "database": "RefSeq", "id": "NP_001264015", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001264015" } ], "reference": [ { "type": "PubMed", "id": "19133254", "url": "https://glygen.org/publication/PubMed/19133254" } ] }, { "title": "The zebrafish reference genome sequence and its relationship to the human genome.", "journal": "Nature", "date": "2013", "authors": "Howe Kerstin, Clark Matthew D, Torroja Carlos F, Torrance James, Berthelot Camille, Muffato Matthieu, Collins John E, Humphray Sean, McLaren Karen, Matthews Lucy, McLaren Stuart, Sealy Ian, Caccamo Mario, Churcher Carol, Scott Carol, Barrett Jeffrey C, Koch Romke, Rauch Gerd-J\u00f6rg, White Simon, Chow William, Kilian Britt, Quintais Leonor T, Guerra-Assun\u00e7\u00e3o Jos\u00e9 A, Zhou Yi, Gu Yong, Yen Jennifer, Vogel Jan-Hinnerk, Eyre Tina, Redmond Seth, Banerjee Ruby, Chi Jianxiang, Fu Beiyuan, Langley Elizabeth, Maguire Sean F, Laird Gavin K, Lloyd David, Kenyon Emma, Donaldson Sarah, Sehra Harminder, Almeida-King Jeff, Loveland Jane, Trevanion Stephen, Jones Matt, Quail Mike, Willey Dave, Hunt Adrienne, Burton John, Sims Sarah, McLay Kirsten, Plumb Bob, Davis Joy, Clee Chris, Oliver Karen, Clark Richard, Riddle Clare, Elliot David, Eliott David, Threadgold Glen, Harden Glenn, Ware Darren, Begum Sharmin, Mortimore Beverley, Mortimer Beverly, Kerry Giselle, Heath Paul, Phillimore Benjamin, Tracey Alan, Corby Nicole, Dunn Matthew, Johnson Christopher, Wood Jonathan, Clark Susan, Pelan Sarah, Griffiths Guy, Smith Michelle, Glithero Rebecca, Howden Philip, Barker Nicholas, Lloyd Christine, Stevens Christopher, Harley Joanna, Holt Karen, Panagiotidis Georgios, Lovell Jamieson, Beasley Helen, Henderson Carl, Gordon Daria, Auger Katherine, Wright Deborah, Collins Joanna, Raisen Claire, Dyer Lauren, Leung Kenric, Robertson Lauren, Ambridge Kirsty, Leongamornlert Daniel, McGuire Sarah, Gilderthorp Ruth, Griffiths Coline, Manthravadi Deepa, Nichol Sarah, Barker Gary, Whitehead Siobhan, Kay Michael, Brown Jacqueline, Murnane Clare, Gray Emma, Humphries Matthew, Sycamore Neil, Barker Darren, Saunders David, Wallis Justene, Babbage Anne, Hammond Sian, Mashreghi-Mohammadi Maryam, Barr Lucy, Martin Sancha, Wray Paul, Ellington Andrew, Matthews Nicholas, Ellwood Matthew, Woodmansey Rebecca, Clark Graham, Cooper James D, Cooper James, Tromans Anthony, Grafham Darren, Skuce Carl, Pandian Richard, Andrews Robert, Harrison Elliot, Kimberley Andrew, Garnett Jane, Fosker Nigel, Hall Rebekah, Garner Patrick, Kelly Daniel, Bird Christine, Palmer Sophie, Gehring Ines, Berger Andrea, Dooley Christopher M, Ersan-\u00dcr\u00fcn Z\u00fcbeyde, Eser Cigdem, Geiger Horst, Geisler Maria, Karotki Lena, Kirn Anette, Konantz Judith, Konantz Martina, Oberl\u00e4nder Martina, Rudolph-Geiger Silke, Teucke Mathias, Lanz Christa, Raddatz G\u00fcnter, Osoegawa Kazutoyo, Zhu Baoli, Rapp Amanda, Widaa Sara, Langford Cordelia, Yang Fengtang, Schuster Stephan C, Carter Nigel P, Harrow Jennifer, Ning Zemin, Herrero Javier, Searle Steve M J, Enright Anton, Geisler Robert, Plasterk Ronald H A, Lee Charles, Westerfield Monte, de Jong Pieter J, Zon Leonard I, Postlethwait John H, N\u00fcsslein-Volhard Christiane, Hubbard Tim J P, Roest Crollius Hugues, Rogers Jane, Stemple Derek L", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "23594743", "url": "https://glygen.org/publication/PubMed/23594743" } ] }, { "title": "Top2a promotes the development of social behavior via PRC2 and H3K27me3.", "journal": "Sci. Adv.", "date": "2022", "authors": "Geng Yijie, Zhang Tejia, Alonzo Ivy G, Godar Sean C, Yates Christopher, Pluimer Brock R, Harrison Devin L, Nath Anjali K, Yeh Jing-Ruey Joanna, Drummond Iain A, Bortolato Marco, Peterson Randall T", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "36417527", "url": "https://glygen.org/publication/PubMed/36417527" } ] }, { "title": "Activation of a transient progenitor state in the epicardium is required for zebrafish heart regeneration.", "journal": "Nat. Commun.", "date": "2022", "authors": "Xia Yu, Duca Sierra, Perder Bj\u00f6rn, D\u00fcndar Friederike, Zumbo Paul, Qiu Miaoyan, Yao Jun, Cao Yingxi, Harrison Michael R M, Zangi Lior, Betel Doron, Cao Jingli", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "36513650", "url": "https://glygen.org/publication/PubMed/36513650" } ] }, { "title": "A CRISPR-Cas9-mediated F0 screen to identify pro-regenerative genes in the zebrafish retinal pigment epithelium.", "journal": "Sci. Rep.", "date": "2023", "authors": "Lu Fangfang, Leach Lyndsay L, Gross Jeffrey M", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "36823429", "url": "https://glygen.org/publication/PubMed/36823429" } ] }, { "title": "Foxm1 regulates cardiomyocyte proliferation in adult zebrafish after cardiac injury.", "journal": "Development", "date": "2023", "authors": "Zuppo Daniel A, Missinato Maria A, Santana-Santos Lucas, Li Guang, Benos Panayiotis V, Tsang Michael", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "36846912", "url": "https://glygen.org/publication/PubMed/36846912" } ] }, { "title": "The interplay of common genetic variants NRG1 rs2439302 and RET rs2435357 increases the risk of developing Hirschsprung's disease.", "journal": "Front. Cell Dev. Biol.", "date": "2023", "authors": "Chi Shuiqing, Li Shuai, Cao Guoqing, Guo Jialing, Han Yunqiao, Zhou Yun, Zhang Xi, Li Yibo, Luo Zhibin, Li Xiangyang, Rong Liying, Zhang Mengxin, Li Linglu, Tang Shaotao", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IPH3", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IPH3" } ], "reference": [ { "type": "PubMed", "id": "37484916", "url": "https://glygen.org/publication/PubMed/37484916" } ] } ], "pathway": [ { "id": "dre:796461", "name": "", "url": "https://www.genome.jp/dbget-bin/www_bget?dre:796461", "resource": "KEGG Pathway" } ], "orthologs": [ { "uniprot_canonical_ac": "P43322-1", "protein_name": "Pro-neuregulin-1, membrane-bound isoform", "gene_name": "Nrg1", "tax_id": 10116, "organism": "Rattus norvegicus", "sequence": { "sequence": "MSERKEGRGKGKGKKKDRGSRGKPGPAEGDPSPALPPRLKEMKSQESAAGSKLVLRCETSSEYSSLRFKWFKNGNELNRKNKPENIKIQKKPGKSELRINKASLADSGEYMCKVISKLGNDSASANITIVESNEFITGMPASTETAYVSSESPIRISVSTEGANTSSSTSTSTTGTSHLIKCAEKEKTFCVNGGECFTVKDLSNPSRYLCKCPNEFTGDRCQNYVMASFYMTSRRKRQETEKPLERKLDHSLVKESKAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRQKLHDRLRQSLRSERSNLVNIANGPHHPNPPPENVQLVNQYVSKNVISSEHIVEREVETSFSTSHYTSTAHHSTTVTQTPSHSWSNGHTESVISESNSVIMMSSVENSRHSSPAGGPRGRLHGLGGPRDNSFLRHARETPDSYRDSPHSERYVSAMTTPARMSPVDFHTPSSPKSPPSEMSPPVSSMTVSMPSVAVSPFVEEERPLLLVTPPRLREKKYDHHPQQLNSFHHNPAHQSTSLPPSPLRIVEDEEYETTQEYESVQEPVKKVTNSRRAKRTKPNGHIANRLEMDSNTSSVSSNSESETEDERVGEDTPFLGIQNPLAASLEVAPAFRLAESRTNPAGRFSTQEELQARLSSVIANQDPIAV", "length": 662 }, "evidence": [ { "id": "HGNC:7997", "url": "https://alliancegenome.org/gene/HGNC:7997#orthology", "database": "AGR" }, { "id": "MGI:96083", "url": "https://alliancegenome.org/gene/MGI:96083#orthology", "database": "AGR" } ], "glygen_name": "Rat", "common_name": "Rat" }, { "uniprot_canonical_ac": "Q02297-1", "protein_name": "Pro-neuregulin-1, membrane-bound isoform", "gene_name": "NRG1", "tax_id": 9606, "organism": "Homo sapiens", "sequence": { "sequence": "MSERKEGRGKGKGKKKERGSGKKPESAAGSQSPALPPRLKEMKSQESAAGSKLVLRCETSSEYSSLRFKWFKNGNELNRKNKPQNIKIQKKPGKSELRINKASLADSGEYMCKVISKLGNDSASANITIVESNEIITGMPASTEGAYVSSESPIRISVSTEGANTSSSTSTSTTGTSHLVKCAEKEKTFCVNGGECFMVKDLSNPSRYLCKCQPGFTGARCTENVPMKVQNQEKAEELYQKRVLTITGICIALLVVGIMCVVAYCKTKKQRKKLHDRLRQSLRSERNNMMNIANGPHHPNPPPENVQLVNQYVSKNVISSEHIVEREAETSFSTSHYTSTAHHSTTVTQTPSHSWSNGHTESILSESHSVIVMSSVENSRHSSPTGGPRGRLNGTGGPRECNSFLRHARETPDSYRDSPHSERYVSAMTTPARMSPVDFHTPSSPKSPPSEMSPPVSSMTVSMPSMAVSPFMEEERPLLLVTPPRLREKKFDHHPQQFSSFHHNPAHDSNSLPASPLRIVEDEEYETTQEYEPAQEPVKKLANSRRAKRTKPNGHIANRLEVDSNTSSQSSNSESETEDERVGEDTPFLGIQNPLAASLEATPAFRLADSRTNPAGRFSTQEEIQARLSSVIANQDPIAV", "length": 640 }, "evidence": [ { "id": "HGNC:7997", "url": "https://alliancegenome.org/gene/HGNC:7997#orthology", "database": "AGR" }, { "id": "MGI:96083", "url": 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"https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "brain development", "id": "GO:0007420", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007420", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "neural crest cell migration", "id": "GO:0001755", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001755", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "peripheral nervous system development", "id": "GO:0007422", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0007422", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "regulation of myelination", "id": "GO:0031641", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031641", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "generation of neurons", "id": "GO:0048699", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048699", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "oligodendrocyte cell fate specification", "id": "GO:0021778", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0021778", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "Schwann cell development", "id": "GO:0014044", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014044", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "Schwann cell migration", "id": "GO:0036135", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036135", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "ventricular trabecula myocardium morphogenesis", "id": "GO:0003222", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0003222", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "ERBB2-ERBB3 signaling pathway", "id": "GO:0038133", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038133", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "ERBB4 signaling pathway", "id": "GO:0038130", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0038130", "evidence": [ { "database": "UniProtKB", "id": "A0A0R4IBM0", "url": "https://www.uniprot.org/uniprotkb/A0A0R4IBM0" } ], "pmid": "" }, { "name": "cardiac neuron development", "id": "GO:0060959", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0060959", "evidence": [ { "database": 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