{ "disease_id": "DOID:0060469", "recommended_name": { "id": "DOID:0060469", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060469", "name": "Miller-Dieker lissencephaly syndrome", "description": "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene." }, "synonyms": [ { "id": "DOID:0060469", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060469", "name": "MDS", "description": "" }, { "id": "DOID:0060469", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060469", "name": "Miller-Dieker syndrome", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "Miller-Dieker lissencephaly syndrome", "description": "A rare syndrome caused by deletion of genetic material in the short arm of chromosome 17. It is characterized by an abnormally smooth brain with fewer folds and grooves. It results in intellectual disability, developmental delay, seizures, spasticity, hypotonia, and feeding difficulties. Affected individuals have distinctive facial features that include a prominent forehead, midface hypoplasia, small, upturned nose, low-set ears, small jaw, and thick upper lip." }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "Miller-Dieker lissencephaly syndrome", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "Miller-Dieker syndrome", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "lissencephaly due to 17p13.3 deletion", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "monosomy 17p13.3", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "telomeric deletion 17p", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "MDLS", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "Miller-Dieker syndrome chromosome region", "description": "" }, { "id": "MONDO:0009532", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "name": "chromosome 17P13.3 deletion syndrome", "description": "" }, { "id": "MIM:247200", "resource": "MIM", "url": "https://www.omim.org/entry/247200", "name": "Miller-Dieker lissencephaly syndrome", "description": "Miller-Dieker lissencephaly syndrome" } ], "children": [], "id_list": [ "DOID:0060469" ], "unlinked_id_list": [], "crossref": [ { "id": "DOID:0060469", "database": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060469", "categories": [] }, { "id": "MONDO:0009532", "database": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0009532", "categories": [] }, { "id": "MIM:247200", "database": "MIM", "url": "https://www.omim.org/entry/247200", "categories": [] } ], "proteins": [ { "uniprot_canonical_ac": "P92177-3", "uniprot_ac": "P92177", "uniprot_id": "1433E_DROME", "refseq_ac": "NP_732309", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "14-3-3 protein epsilon", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3epsilon, isoform A", "resource": "RefSeq", "type": "synonym" }, { "name": "CG31196-PA; 14-3-3epsilon-PA; suppressor of Ras85D 3-9; Tyrosine-3-monooxygenase; 14-3-3 protein epsilon; 14-3-3ε 14-3-3 epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "Suppressor of Ras1 3-9", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "14-3-3epsilon", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3; 14-3-3 epsilon; 14-3-3-e; 14-3-3-epsilon; 14-3-30epsilon; 14-3-3e; 14-3-3EPSILON; 14-3-3omicron; 14.3.3; 14.3.3 epsilon; 1433epsilon; 143E_DROME; anon-WO0172774.141; anon-WO02059370.52; CG31196; CT24092; D14-3-3e; d14-3-3epsilon; D14-3-3epsilon; Dmel\\CG31196; e-14-3-3; EK3-5; eps; Eps; l(3)j2B10; par-5; Par-5; PAR-5; PAR5; SR3-9; Su(Raf)3B", "resource": "RefSeq", "type": "synonym" }, { "name": "14-3-3epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "14-3-3e", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG31196", "resource": "UniProtKB", "type": "synonym" }, { "name": "SR3-9", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q9VTM2-1", "uniprot_ac": "Q9VTM2", "uniprot_id": "Q9VTM2_DROME", "refseq_ac": "NP_001261722", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2.5.1.108", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG11652-PC; Dph1-PC; diphthamide biosynthesis-like 1", "resource": "RefSeq", "type": "synonym" }, { "name": "Diphthamide biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "diphthamide biosynthesis 1, isoform C", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Dph1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG11652; Dmel\\CG11652", "resource": "RefSeq", "type": "synonym" }, { "name": "CG11652", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG11652", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG11652", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dph1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q7KNS3-1", "uniprot_ac": "Q7KNS3", "uniprot_id": "LIS1_DROME", "refseq_ac": "NP_001246361", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Lissencephaly-1 homolog", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG8440-PG; Lis-1-PG; lissencephaly-1; Paf-AHbeta; platelet-activating factor acetylhydrolase Ib beta-subunit homolog", "resource": "RefSeq", "type": "synonym" }, { "name": "DLis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dlis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lissencephaly-1, isoform G", "resource": "RefSeq", "type": "synonym" }, { "name": "Lissencephaly1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Lis-1", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG8440; D-Lis1; Dlis-1; DLis-1; DLIS-1; dLis1; Dlis1; DLis1; DLIS1; Dmel\\CG8440; DmLIS1; l(2)k13209; l(2R)W8; Lis; Lis 1; lis-1; LIS-1; lis1; Lis1; n(2)k11702", "resource": "RefSeq", "type": "synonym" }, { "name": "CG8440", "resource": "UniProtKB", "type": "synonym" }, { "name": "D-Lis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DLIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DLIS1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DLis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DLis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dlis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dlis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmLIS1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG8440", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG8440", "resource": "UniProtKB", "type": "synonym" }, { "name": "LIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lis 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lis-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Lis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lis", "resource": "UniProtKB", "type": "synonym" }, { "name": "dLis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2)k13209", "resource": "UniProtKB", "type": "synonym" }, { "name": "l(2R)W8", "resource": "UniProtKB", "type": "synonym" }, { "name": "lis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "lis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "n(2)k11702", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "M9NGP0-1", "uniprot_ac": "M9NGP0", "uniprot_id": "M9NGP0_DROME", "refseq_ac": "NP_001245512", "glycoprotein": "yes", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "CG13316-PI; Mnt-PI", "resource": "RefSeq", "type": "synonym" }, { "name": "Mnt, isoform I", "resource": "RefSeq", "type": "synonym" }, { "name": "Mnt, isoform I", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Mnt", "resource": "UniProtKB", "type": "recommended" }, { "name": "CG13316", "resource": "UniProtKB", "type": "synonym" }, { "name": "CG2856", "resource": "UniProtKB", "type": "synonym" }, { "name": "DmMnt", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel\\CG13316", "resource": "UniProtKB", "type": "synonym" }, { "name": "Dmel_CG13316", "resource": "UniProtKB", "type": "synonym" }, { "name": "EG:114E2.2", "resource": "UniProtKB", "type": "synonym" }, { "name": "MNT", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mad-3E", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mad", "resource": "UniProtKB", "type": "synonym" }, { "name": "Mnt", "resource": "RefSeq", "type": "synonym" }, { "name": "bHLHe43; CG13316; CG2856; dMad; Dmel\\CG13316; DmMnt; dmnt; dMnt; EG:114E2.2; Mad; Mad-3E; mnt; MNT", "resource": "RefSeq", "type": "synonym" }, { "name": "bHLHe43", "resource": "UniProtKB", "type": "synonym" }, { "name": "dMad", "resource": "UniProtKB", "type": "synonym" }, { "name": "dMnt", "resource": "UniProtKB", "type": "synonym" }, { "name": "dmnt", "resource": "UniProtKB", "type": "synonym" }, { "name": "mnt", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q9R1Y5-1", "uniprot_ac": "Q9R1Y5", "uniprot_id": "HIC1_MOUSE", "refseq_ac": "NP_001091673", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Hypermethylated in cancer 1 protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hic-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "hypermethylated in cancer 1 protein isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "hypermethylated in cancer 1 protein", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Hic1", "resource": "UniProtKB", "type": "recommended" }, { "name": "HIC-1", "resource": "RefSeq", "type": "synonym" }, { "name": "Hic1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "O08789-1", "uniprot_ac": "O08789", "uniprot_id": "MNT_MOUSE", "refseq_ac": "NP_034943", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Max-binding protein MNT", "resource": "UniProtKB", "type": "recommended" }, { "name": "Myc antagonist MNT", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein ROX", "resource": "UniProtKB", "type": "synonym" }, { "name": "max-binding protein MNT", "resource": "RefSeq", "type": "synonym" }, { "name": "myc antagonist MNT", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Mnt", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mnt", "resource": "RefSeq", "type": "synonym" }, { "name": "Rox", "resource": "UniProtKB", "type": "synonym" }, { "name": "bHLHd3; Rox", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q5NCQ5-1", "uniprot_ac": "Q5NCQ5", "uniprot_id": "DPH1_MOUSE", "refseq_ac": "NP_652762", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "RefSeq", "type": "synonym" }, { "name": "2.5.1.108", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphthamide biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ovarian cancer-associated gene 1 protein homolog", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "diphthamide biosynthesis protein 1; mmDph1; ovarian cancer-associated gene 1 protein homolog; diphthamide biosynthesis protein 2 homolog-like 1; diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1; DPH2-like 1; DPH1 homolog; diphtheria toxin resistance protein 1; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Dph1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2310011M22Rik; 4930488F09Rik; Dph2l1; Ovca1", "resource": "RefSeq", "type": "synonym" }, { "name": "Dph1", "resource": "RefSeq", "type": "synonym" }, { "name": "Dph2l1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ovca1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P63005-1", "uniprot_ac": "P63005", "uniprot_id": "LIS1_MOUSE", "refseq_ac": "NP_038653", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Platelet-activating factor acetylhydrolase IB subunit beta", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lissencephaly-1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF acetylhydrolase 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAFAH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "platelet-activating factor acetylhydrolase 1b, regulatory subunit 1; platelet-activating factor acetylhydrolase IB subunit alpha; PAFAH alpha; PAF-AH alpha; PAF-AH 45 kDa subunit; PAF acetylhydrolase 45 kDa subunit; lissencephaly-1 protein; Pafaha/Lis1; platelet-activating factor acetylhydrolase 45kD subunit", "resource": "RefSeq", "type": "synonym" }, { "name": "platelet-activating factor acetylhydrolase IB subunit beta", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Pafah1b1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS-1; Lis1; Mdsh; MMS10-U; Ms10u; Pafaha", "resource": "RefSeq", "type": "synonym" }, { "name": "Lis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Pafah1b1", "resource": "RefSeq", "type": "synonym" }, { "name": "Pafaha", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P62259-1", "uniprot_ac": "P62259", "uniprot_id": "1433E_MOUSE", "refseq_ac": "NP_033562", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "14-3-3 protein epsilon", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3 protein epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "14-3-3E; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activatioprotein, epsilon polypeptide; 14-3-3 epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "14-3-3E", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Ywhae", "resource": "UniProtKB", "type": "recommended" }, { "name": "Ywhae", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P34730-1", "uniprot_ac": "P34730", "uniprot_id": "BMH2_YEAST", "refseq_ac": "NP_010384", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Protein BMH2", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3 family protein BMH2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "BMH2", "resource": "UniProtKB", "type": "recommended" }, { "name": "BMH2", "resource": "RefSeq", "type": "synonym" }, { "name": "SCD3", "resource": "RefSeq", "type": "synonym" }, { "name": "YD8557.08", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P40487-1", "uniprot_ac": "P40487", "uniprot_id": "DPH1_YEAST", "refseq_ac": "NP_012163", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2-(3-amino-3-carboxypropyl)histidine synthase", "resource": "RefSeq", "type": "synonym" }, { "name": "2.5.1.108", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphthamide biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "DPH1", "resource": "UniProtKB", "type": "recommended" }, { "name": "DPH1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P29311-1", "uniprot_ac": "P29311", "uniprot_id": "BMH1_YEAST", "refseq_ac": "NP_011104", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Protein BMH1", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3 family protein BMH1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "BMH1", "resource": "UniProtKB", "type": "recommended" }, { "name": "APR6", "resource": "RefSeq", "type": "synonym" }, { "name": "BMH1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P39946-1", "uniprot_ac": "P39946", "uniprot_id": "LIS1_YEAST", "refseq_ac": "NP_014912", "glycoprotein": "no", "species": [ { "name": "Saccharomyces cerevisiae S288C", "taxid": 559292, "common_name": "Baker's yeast", "glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Nuclear distribution protein PAC1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lissencephaly-1 homolog", "resource": "UniProtKB", "type": "synonym" }, { "name": "Pac1p", "resource": "RefSeq", "type": "synonym" }, { "name": "nudF homolog", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "PAC1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS1", "resource": "RefSeq", "type": "synonym" }, { "name": "LIS1", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAC1", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P43034-1", "uniprot_ac": "P43034", "uniprot_id": "LIS1_HUMAN", "refseq_ac": "NP_000421", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Platelet-activating factor acetylhydrolase IB subunit beta", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lissencephaly-1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF acetylhydrolase 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAFAH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "lissencephaly 1 protein; platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)", "resource": "RefSeq", "type": "synonym" }, { "name": "platelet-activating factor acetylhydrolase IB subunit beta", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "PAFAH1B1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS1; LIS2; MDCR; MDS; NudF; PAFAH", "resource": "RefSeq", "type": "synonym" }, { "name": "LIS1", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDCR", "resource": "UniProtKB", "type": "synonym" }, { "name": "MDS", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAFAH1B1", "resource": "RefSeq", "type": "synonym" }, { "name": "PAFAHA", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" }, { "id": "247200", "database": "MIM", "url": "https://www.omim.org/entry/247200" } ] }, { "uniprot_canonical_ac": "Q9BZG8-4", "uniprot_ac": "Q9BZG8", "uniprot_id": "DPH1_HUMAN", "refseq_ac": "NP_001333505", "glycoprotein": "no", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1 isoform 4", "resource": "RefSeq", "type": "synonym" }, { "name": "2.5.1.108", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphthamide biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ovarian cancer-associated gene 1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "candidate tumor suppressor in ovarian cancer 1; DPH-like 1; diptheria toxin resistance protein required for diphthamide biosynthesis (Saccharomyces)-like 1; ovarian tumor suppressor candidate 1; diphthamide biosynthesis protein 1; ovarian cancer-associated gene 1 protein; diphthamide biosynthesis protein 2 homolog-like 1; DPH2-like 1; DPH1 homolog; diphtheria toxin resistance protein 1; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1; 2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "DPH1", "resource": "UniProtKB", "type": "recommended" }, { "name": "DEDSSH; DPH2L; DPH2L1; OVCA1", "resource": "RefSeq", "type": "synonym" }, { "name": "DPH1", "resource": "RefSeq", "type": "synonym" }, { "name": "DPH2L1", "resource": "UniProtKB", "type": "synonym" }, { "name": "DPH2L", "resource": "UniProtKB", "type": "synonym" }, { "name": "OVCA1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P62258-1", "uniprot_ac": "P62258", "uniprot_id": "1433E_HUMAN", "refseq_ac": "NP_006752", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "14-3-3 protein epsilon", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3 protein epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "14-3-3E", "resource": "UniProtKB", "type": "synonym" }, { "name": "mitochondrial import stimulation factor L subunit; protein kinase C inhibitor protein-1; tyrosine 3/tryptophan 5 -monooxygenase activation protein, epsilon polypeptide; 14-3-3 epsilon; tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide; epididymis luminal protein 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "YWHAE", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3E; HEL2; KCIP-1; MDCR; MDS", "resource": "RefSeq", "type": "synonym" }, { "name": "YWHAE", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q14526-1", "uniprot_ac": "Q14526", "uniprot_id": "HIC1_HUMAN", "refseq_ac": "NP_001091672", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Hypermethylated in cancer 1 protein", "resource": "UniProtKB", "type": "recommended" }, { "name": "Hic-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Zinc finger and BTB domain-containing protein 29", "resource": "UniProtKB", "type": "synonym" }, { "name": "hypermethylated in cancer 1 protein isoform 2", "resource": "RefSeq", "type": "synonym" }, { "name": "zinc finger and BTB domain-containing protein 29; hypermethylated in cancer 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "HIC1", "resource": "UniProtKB", "type": "recommended" }, { "name": "HIC1", "resource": "RefSeq", "type": "synonym" }, { "name": "ZBTB29", "resource": "UniProtKB", "type": "synonym" }, { "name": "hic-1; ZBTB29; ZNF901", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q99583-1", "uniprot_ac": "Q99583", "uniprot_id": "MNT_HUMAN", "refseq_ac": "NP_064706", "glycoprotein": "yes", "species": [ { "name": "Homo sapiens", "taxid": 9606, "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "protein_names": [ { "name": "Max-binding protein MNT", "resource": "UniProtKB", "type": "recommended" }, { "name": "Class D basic helix-loop-helix protein 3", "resource": "UniProtKB", "type": "synonym" }, { "name": "Max-interacting protein; myc antagonist MNT; class D basic helix-loop-helix protein 3; MAX binding protein; MNT, MAX dimerization protein", "resource": "RefSeq", "type": "synonym" }, { "name": "Myc antagonist MNT", "resource": "UniProtKB", "type": "synonym" }, { "name": "Protein ROX", "resource": "UniProtKB", "type": "synonym" }, { "name": "bHLHd3", "resource": "UniProtKB", "type": "synonym" }, { "name": "max-binding protein MNT", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "MNT", "resource": "UniProtKB", "type": "recommended" }, { "name": "BHLHD3", "resource": "UniProtKB", "type": "synonym" }, { "name": "MNT", "resource": "RefSeq", "type": "synonym" }, { "name": "ROX", "resource": "UniProtKB", "type": "synonym" }, { "name": "bHLHd3; lncRNA-HAL; MAD6; MXD6; ROX", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q7ZW20-1", "uniprot_ac": "Q7ZW20", "uniprot_id": "Q7ZW20_DANRE", "refseq_ac": "NP_997770", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "14-3-3 protein epsilon; 14-3-3 epsilon", "resource": "RefSeq", "type": "synonym" }, { "name": "Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ywhae1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ywhae1", "resource": "UniProtKB", "type": "recommended" }, { "name": "fe38c12; wu:fb48f06; wu:fe38c12; wu:fi22e10; ywhae; zgc:55377; zgc:77062", "resource": "RefSeq", "type": "synonym" }, { "name": "fe38c12", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fb48f06", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fe38c12", "resource": "UniProtKB", "type": "synonym" }, { "name": "wu:fi22e10", "resource": "UniProtKB", "type": "synonym" }, { "name": "ywhae1", "resource": "RefSeq", "type": "synonym" }, { "name": "ywhae", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:55377", "resource": "UniProtKB", "type": "synonym" }, { "name": "zgc:77062", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q7T394-1", "uniprot_ac": "Q7T394", "uniprot_id": "LIS1A_DANRE", "refseq_ac": "NP_958502", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lissencephaly-1 homolog A", "resource": "UniProtKB", "type": "recommended" }, { "name": "Platelet-activating factor acetylhydrolase IB subunit alpha a", "resource": "UniProtKB", "type": "synonym" }, { "name": "lis1b", "resource": "RefSeq", "type": "synonym" }, { "name": "lissencephaly-1 homolog A", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "pafah1b1a", "resource": "UniProtKB", "type": "recommended" }, { "name": "lis1b", "resource": "UniProtKB", "type": "synonym" }, { "name": "pafah1b1a", "resource": "RefSeq", "type": "synonym" }, { "name": "si:dkey-95O3.1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q803D2-1", "uniprot_ac": "Q803D2", "uniprot_id": "LIS1B_DANRE", "refseq_ac": "NP_958503", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Lissencephaly-1 homolog B", "resource": "UniProtKB", "type": "recommended" }, { "name": "Platelet-activating factor acetylhydrolase IB subunit alpha b", "resource": "UniProtKB", "type": "synonym" }, { "name": "lissencephaly-1 homolog B", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "pafah1b1b", "resource": "UniProtKB", "type": "recommended" }, { "name": "Lis1a", "resource": "RefSeq", "type": "synonym" }, { "name": "lis1a", "resource": "UniProtKB", "type": "synonym" }, { "name": "pafah1b1b", "resource": "RefSeq", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q567W6-1", "uniprot_ac": "Q567W6", "uniprot_id": "DPH1_DANRE", "refseq_ac": "NP_001017861", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "UniProtKB", "type": "recommended" }, { "name": "2-(3-amino-3-carboxypropyl)histidine synthase subunit 1", "resource": "RefSeq", "type": "synonym" }, { "name": "2.5.1.108", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphthamide biosynthesis protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "diphthamide biosynthesis protein 1; diphtheria toxin resistance protein 1; S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "dph1", "resource": "UniProtKB", "type": "recommended" }, { "name": "dph1", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:110702", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:110702", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "Q5CZQ1-1", "uniprot_ac": "Q5CZQ1", "uniprot_id": "Q5CZQ1_DANRE", "refseq_ac": "NP_001013359", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ywhae2 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "ywhae2", "resource": "UniProtKB", "type": "recommended" }, { "name": "im:7138781; zgc:113329", "resource": "RefSeq", "type": "synonym" }, { "name": "im:7138781", "resource": "UniProtKB", "type": "synonym" }, { "name": "ywhae2", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:113329", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "A0AB13A9Y4-1", "uniprot_ac": "A0AB13A9Y4", "uniprot_id": "A0AB13A9Y4_DANRE", "refseq_ac": "NP_001410788", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Hypermethylated in cancer 1 protein isoform 2", "resource": "UniProtKB", "type": "synonym" }, { "name": "etID142640.25", "resource": "RefSeq", "type": "synonym" }, { "name": "hypermethylated in cancer 1 protein isoform 2", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "hic1", "resource": "UniProtKB", "type": "recommended" }, { "name": "hic1", "resource": "RefSeq", "type": "synonym" }, { "name": "zfHIC1", "resource": "RefSeq", "type": "synonym" }, { "name": "zfHIC1", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "E7FCB9-1", "uniprot_ac": "E7FCB9", "uniprot_id": "E7FCB9_DANRE", "refseq_ac": "XP_005170328", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "MAX network transcriptional repressor b isoform X1", "resource": "RefSeq", "type": "synonym" }, { "name": "MAX network transcriptional repressor b", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "mntb", "resource": "UniProtKB", "type": "recommended" }, { "name": "Mnt; zgc:165490", "resource": "RefSeq", "type": "synonym" }, { "name": "Mnt", "resource": "UniProtKB", "type": "synonym" }, { "name": "mntb", "resource": "RefSeq", "type": "synonym" }, { "name": "zgc:165490", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "A0A8M3AIM1-1", "uniprot_ac": "A0A8M3AIM1", "uniprot_id": "A0A8M3AIM1_DANRE", "refseq_ac": "XP_009290027", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Max-binding protein MNT", "resource": "UniProtKB", "type": 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"Diphtheria toxin resistance protein 1", "resource": "UniProtKB", "type": "synonym" }, { "name": "S-adenosyl-L-methionine:L-histidine 3-amino-3-carboxypropyltransferase 1", "resource": "UniProtKB", "type": "synonym" } ], "gene_names": [ { "name": "Dph1", "resource": "UniProtKB", "type": "recommended" }, { "name": "Ovca2", "resource": "UniProtKB", "type": "recommended" }, { "name": "Dph1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Ovca2", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P63004-1", "uniprot_ac": "P63004", "uniprot_id": "LIS1_RAT", "refseq_ac": "NP_113951", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Platelet-activating factor acetylhydrolase IB subunit alpha", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lissencephaly-1 protein", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF acetylhydrolase 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH 45 kDa subunit", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "PAF-AH beta; LIS-1; platelet-activating factor acetylhydrolase beta subunit (PAF-AH beta); PAFAH alpha; PAF-AH alpha; PAF-AH 45 kDa subunit; lissencephaly-1 protein; PAF acetylhydrolase 45 kDa subunit", "resource": "RefSeq", "type": "synonym" }, { "name": "PAFAH alpha", "resource": "UniProtKB", "type": "synonym" }, { "name": "platelet-activating factor acetylhydrolase IB subunit alpha", "resource": "RefSeq", "type": "synonym" } ], "gene_names": [ { "name": "Pafah1b1", "resource": "UniProtKB", "type": "recommended" }, { "name": "LIS1", "resource": "RefSeq", "type": "synonym" }, { "name": "Lis-1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Lis1", "resource": "UniProtKB", "type": "synonym" }, { "name": "Pafah1b1", "resource": "RefSeq", "type": "synonym" }, { "name": "Pafaha", "resource": "UniProtKB", "type": "synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] }, { "uniprot_canonical_ac": "P62260-1", "uniprot_ac": "P62260", "uniprot_id": "1433E_RAT", "refseq_ac": "NP_113791", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "14-3-3 protein epsilon", "resource": "UniProtKB", "type": "recommended" }, { "name": "14-3-3 epsilon; mitochondrial import stimulation factor (MSF) L subunit; MSF L; mitochondrial import 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"synonym" } ], "evidence": [ { "id": "0060469", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060469" } ] } ], "glycans": [], "biomarkers": [], "association_flag": "1000", "record_id": "doid.0060469" }