data.json

[
    {
        "entry": {
            "prefix": "*",
            "mimNumber": 600293,
            "status": "live",
            "titles": {
                "preferredTitle": "ADENYLATE CYCLASE 5; ADCY5",
                "alternativeTitles": "ADENYLYL CYCLASE 5"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 1,
                        "authors": "Barrett, M. J., Williams, E. S., Chambers, C., Dhamija, R.",
                        "title": "Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.",
                        "source": "Neurol. Genet. 3: 193, 2017.",
                        "pubmedID": 28971144,
                        "doi": "10.1212/NXG.0000000000000193"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 2,
                        "authors": "Bird, T. D., Carlson, C. B., Hall, J. G.",
                        "title": "Familial essential ('benign') chorea.",
                        "source": "J. Med. Genet. 13: 357-362, 1976.",
                        "pubmedID": 1003446,
                        "doi": "10.1136/jmg.13.5.357"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 3,
                        "authors": "Bird, T. D., Hall, J. G.",
                        "title": "Additional information on familial essential (benign) chorea. (Letter)",
                        "source": "Clin. Genet. 14: 271-272, 1978.",
                        "pubmedID": 152174,
                        "doi": "10.1111/j.1399-0004.1978.tb02146.x"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 4,
                        "authors": "Bohlega, S. A., Abou-Al-Shaar, H., AlDakheel, A., Alajlan, H., Bohlega, B. S., Meyer, B. F., Monies, D., Cupler, E. J.,, Al-Saif, A. M.",
                        "title": "Autosomal recessive ADCY5-related dystonia and myoclonus: expanding the genetic spectrum of ADCY5-related movement disorders.",
                        "source": "Parkinsonism Relat. Disord. 64: 145-149, 2019.",
                        "pubmedID": 30975617,
                        "doi": "10.1016/j.parkreldis.2019.02.039"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 5,
                        "authors": "Carapito, R., Paul, N., Untrau, M., Le Gentil, M., Ott, L., Alsaleh, G., Jochem, P., Radosavljevic, M., Le Caignec, C., David, A., Damier, P., Isidor, B., Bahram, S.",
                        "title": "A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.",
                        "source": "Mov. Disord. 30: 423-427, 2015.",
                        "pubmedID": 25545163,
                        "doi": "10.1002/mds.26115"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 6,
                        "authors": "Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., {and 19 others}",
                        "title": "ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.",
                        "source": "Neurology 85: 2026-2035, 2015.",
                        "pubmedID": 26537056,
                        "pubmedImages": "present",
                        "doi": "10.1212/WNL.0000000000002058"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 7,
                        "authors": "Chen, Y.-Z., Friedman, J. R., Chen, D.-H., Chan, G. C.-K., Bloss, C. S., Hisama, F. M., Topol, S. E., Carson, A. R., Pham, P. H., Bonkowski, E. S., Scott, E. R., Lee, J. K., {and 13 others}",
                        "title": "Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.",
                        "source": "Ann. Neurol. 75: 542-549, 2014.",
                        "pubmedID": 24700542,
                        "doi": "10.1002/ana.24119"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 8,
                        "authors": "Chen, Y.-Z., Matsushita, M. M., Robertson, P., Rieder, M., Girirajan, S., Antonacci, F., Lipe, H., Eichler, E. E., Nickerson, D. A., Bird, T. D., Raskind, W. H.",
                        "title": "Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.",
                        "source": "Arch. Neurol. 69: 630-635, 2012.",
                        "pubmedID": 22782511,
                        "pubmedImages": "present",
                        "doi": "10.1001/archneurol.2012.54"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 9,
                        "authors": "Dean, M., Messiaen, L., Cooper, G. M., Amaral, M. D., Rashid, S., Korf, B. R., Standaert, D. G.",
                        "title": "Child neurology: spastic paraparesis and dystonia with a novel ADCY5 mutation.",
                        "source": "Neurology 93: 510-514, 2019.",
                        "pubmedID": 31501304,
                        "doi": "10.1212/WNL.0000000000008089"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 10,
                        "authors": "Edelhoff, S., Villacres, E. C., Storm, D. R., Disteche, C. M.",
                        "title": "Mapping of adenylyl cyclase genes type I, II, III, IV, V, and VI in mouse.",
                        "source": "Mammalian Genome 6: 111-113, 1995.",
                        "pubmedID": 7766992,
                        "doi": "10.1007/BF00303253"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 11,
                        "authors": "Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T.",
                        "title": "Hereditary benign chorea: clinical and genetic features of a distinct disease.",
                        "source": "Neurology 57: 106-110, 2001.",
                        "pubmedID": 11445636,
                        "doi": "10.1212/wnl.57.1.106"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 12,
                        "authors": "Fernandez, M., Raskind, W., Wolff, J., Matsushita, M., Yuen, E., Graf, W., Lipe, H., Bird, T.",
                        "title": "Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.",
                        "source": "Ann. Neurol. 49: 486-492, 2001.",
                        "pubmedID": 11310626
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 13,
                        "authors": "Gaudin, C., Homcy, C. J., Ishikawa, Y.",
                        "title": "Mammalian adenylyl cyclase family members are randomly located on different chromosomes.",
                        "source": "Hum. Genet. 94: 527-529, 1994.",
                        "pubmedID": 7959689,
                        "doi": "10.1007/BF00211020"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 14,
                        "authors": "Haber, N., Stengel, D., Defer, N., Roeckel, N., Mattei, M.-G., Hanoune, J.",
                        "title": "Chromosomal mapping of human adenylyl cyclase genes type III, type V and type VI.",
                        "source": "Hum. Genet. 94: 69-73, 1994.",
                        "pubmedID": 8034296,
                        "doi": "10.1007/BF02272844"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 15,
                        "authors": "Kaiyrzhanov, R., Zaki, M. S., Maroofian, R., Dominik, N., Rad, A., Vona, B., Houlden, H.",
                        "title": "A novel homozygous ADCY5 variant is associated with a neurodevelopmental disorder and movement abnormalities.",
                        "source": "Mov. Disord. Clin. Pract. 8: 1140-1143, 2021.",
                        "pubmedID": 34631954,
                        "doi": "10.1002/mdc3.13310"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 16,
                        "authors": "Kim, K.-S., Lee, K.-W., Lee, K.-W., Im, J.-Y., Yoo, J. Y., Kim, S.-W., Lee, J.-K., Nestler, E. J., Han, P.-L.",
                        "title": "Adenylyl cyclase type 5 (AC5) is an essential mediator of morphine action.",
                        "source": "Proc. Nat. Acad. Sci. 103: 3908-3913, 2006.",
                        "pubmedID": 16537460,
                        "pubmedImages": "present",
                        "doi": "10.1073/pnas.0508812103"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 17,
                        "authors": "Kumar, K. R., Davis, R. L., Tchan, M. C., Wali, G. M., Mahant, N., Ng, K., Kotschet, K., Siow, S.-F., Gu, J., Walls, Z., Kang, C., Wali, G., {and 16 others}",
                        "title": "Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.",
                        "source": "Parkinsonism Relat. Disord. 69: 111-118, 2019.",
                        "pubmedID": 31731261,
                        "doi": "10.1016/j.parkreldis.2019.11.004"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 18,
                        "authors": "Ludwig, M.-G., Seuwen, K.",
                        "title": "Characterization of the human adenylyl cyclase gene family: cDNA, gene structure, and tissue distribution of the nine isoforms.",
                        "source": "J. Recept. Signal Transduct. Res. 22: 79-110, 2002.",
                        "pubmedID": 12503609,
                        "doi": "10.1081/rrs-120014589"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 19,
                        "authors": "Mencacci, N. E., Erro, R., Wiethoff, S., Hersheson, J., Ryten, M., Balint, B., Ganos, C., Stamelou, M., Quinn, N., Houlden, H., Wood, N. W., Bhatia, K. P.",
                        "title": "ADCY5 mutations are another cause of benign hereditary chorea.",
                        "source": "Neurology 85: 80-88, 2015.",
                        "pubmedID": 26085604,
                        "pubmedImages": "present",
                        "doi": "10.1212/WNL.0000000000001720"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 20,
                        "authors": "Meneret, A., Gras, D., McGovern, E., Roze, E.",
                        "title": "Caffeine and the dyskinesia related to mutations in the ADCY5 gene.",
                        "source": "Ann. Intern. Med. 171: 439, 2019.",
                        "pubmedID": 31181574,
                        "doi": "10.7326/L19-0038"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 21,
                        "authors": "Okamoto, N., Miya, F., Kitai, Y., Tsunoda, T., Kato, M., Saitoh, S., Kanemura, Y., Kosaki, K.",
                        "title": "Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.",
                        "source": "Neurol. Sci. 42: 2975-2978, 2021.",
                        "pubmedID": 33704598,
                        "doi": "10.1007/s10072-021-05152-y"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 22,
                        "authors": "Shetty, K., Sarma, A. S., Devan, M., Dalal, A., Dash, G. K., Jannabhatla, A., Patil, S. J.",
                        "title": "Recurrent ADCY5 mutation in mosaic form with nocturnal paroxysmal dyskinesias and video electroencephalography documentation of dramatic response to caffeine treatment. (Letter)",
                        "source": "J. Mov. Disord. 13: 238-240, 2020.",
                        "pubmedID": 32713175,
                        "doi": "10.14802/jmd.20014"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 23,
                        "authors": "Stumpf, A. M.",
                        "title": "Personal Communication.",
                        "source": "Baltimore, Md.  12/08/2021."
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 24,
                        "authors": "Waalkens, A. J. E., Vansenne, F., van der Hout, A. H., Zutt, R., Mourmans, J., Tolosa, E., de Koning, T. J., Tijssen, M. A. J.",
                        "title": "Expanding the ADCY5 phenotype toward spastic paraparesis: a mutation in the M2 domain.",
                        "source": "Neurol. Genet. 4: e214, 2018.",
                        "pubmedID": 29473048,
                        "doi": "10.1212/NXG.0000000000000214"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 600293,
                        "referenceNumber": 25,
                        "authors": "Westenberger, A., Max, C., Bruggemann, N., Domingo, A., Grutz, K., Pawlack, H., Weissbach, A., Kuhn, A. A., Spiegler, J., Lang, A. E., Sperner, J., Fung, V. S. C., Schallner, J., Gillessen-Kaesbach, G., Munchau, A., Klein, C.",
                        "title": "Alternating hemiplegia of childhood as a new presentation of adenylate cyclase 5-mutation-associated disease: a report of two cases.",
                        "source": "J. Pediat. 181: 306-308, 2017.",
                        "pubmedID": 27931826,
                        "doi": "10.1016/j.jpeds.2016.10.079"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "111",
                "hgncID": "236",
                "ensemblIDs": "ENSG00000173175,ENST00000462833;;;ENST00000462833",
                "approvedGeneSymbols": "ADCY5",
                "ncbiReferenceSequences": "NM_001199642,NM_001378259,NM_183357,XM_005247078,XM_006713483,XM_006713484,XM_011512359,XM_011512360,XM_011512361,XM_017005638,XM_017005639,XM_047447359,XM_047447360,XM_047447361,XM_047447362,XM_047447363,XM_047447364,XM_047447365;;;NM_183357",
                "genbankNucleotideSequences": "4097593,19033383,21752783,21758383,22212710,22212912,23307954,34366896,34530549,74230053,221040099,221044219,221044429,221046363,308219911,2033681080",
                "proteinSequences": "4097594,22212711,22212913,34486092,118572619,119599856,193784917,193787564,221040100,221044220,221044430,221046364,308219912,314122162,530373840,578807015,578807017,767925564,767925566,767925568,1034630961,1034630964,1805791150,2217341573,2217341576,2217341578,2217341580,2217341584,2217341586,2217341588,2462586755,2462586757,2462586759,2462586761,2462586764,2462586766,2462586768,2462586770,2462586772,2462586774,2462586776,2462586778,2462586780,2462586782,2462586784",
                "swissProtIDs": "O95622",
                "mgiIDs": "MGI:99673",
                "mgiHumanDisease": false,
                "wormbaseIDs": "WBGene00000071",
                "wormbaseDO": false,
                "nbkIDs": "NBK263441;;ADCY5 Dyskinesia",
                "flybaseIDs": "FBgn0263131",
                "zfinIDs": "ZDB-GENE-081104-470",
                "hprdIDs": "08973",
                "decipherGene": true,
                "geneticsHomeReferenceIDs": "gene;;ADCY5 gene;;adcy5",
                "umlsIDs": "C1412224,C5551343,C5562036,C5562038",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": true,
                "gwasCatalog": true,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": true,
                "pharmgkbIDs": "PA24563"
            },
            "contributors": "Hilary J. Vernon - updated : 06/02/2022\nCassandra L. Kniffin - updated : 01/12/2022\nAnne M. Stumpf - updated : 12/08/2021\nCassandra L. Kniffin - updated : 12/07/2021\nCassandra L. Kniffin - updated : 4/10/2014\nCassandra L. Kniffin - updated : 8/20/2012\nCassandra L. Kniffin - updated : 7/16/2007\nPatricia A. Hartz - updated : 10/11/2006",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "#",
            "mimNumber": 606703,
            "status": "live",
            "titles": {
                "preferredTitle": "DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL DOMINANT; DSKOD",
                "alternativeTitles": "DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA; FDFM"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 1,
                        "authors": "Bird, T. D., Carlson, C. B., Hall, J. G.",
                        "title": "Familial essential ('benign') chorea.",
                        "source": "J. Med. Genet. 13: 357-362, 1976.",
                        "pubmedID": 1003446,
                        "doi": "10.1136/jmg.13.5.357"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 2,
                        "authors": "Bird, T. D., Hall, J. G.",
                        "title": "Additional information on familial essential (benign) chorea. (Letter)",
                        "source": "Clin. Genet. 14: 271-272, 1978.",
                        "pubmedID": 152174,
                        "doi": "10.1111/j.1399-0004.1978.tb02146.x"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 3,
                        "authors": "Carapito, R., Paul, N., Untrau, M., Le Gentil, M., Ott, L., Alsaleh, G., Jochem, P., Radosavljevic, M., Le Caignec, C., David, A., Damier, P., Isidor, B., Bahram, S.",
                        "title": "A de novo ADCY5 mutation causes early-onset autosomal dominant chorea and dystonia.",
                        "source": "Mov. Disord. 30: 423-427, 2015.",
                        "pubmedID": 25545163,
                        "doi": "10.1002/mds.26115"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 4,
                        "authors": "Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., {and 19 others}",
                        "title": "ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.",
                        "source": "Neurology 85: 2026-2035, 2015.",
                        "pubmedID": 26537056,
                        "pubmedImages": "present",
                        "doi": "10.1212/WNL.0000000000002058"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 5,
                        "authors": "Chen, Y.-Z., Friedman, J. R., Chen, D.-H., Chan, G. C.-K., Bloss, C. S., Hisama, F. M., Topol, S. E., Carson, A. R., Pham, P. H., Bonkowski, E. S., Scott, E. R., Lee, J. K., {and 13 others}",
                        "title": "Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia.",
                        "source": "Ann. Neurol. 75: 542-549, 2014.",
                        "pubmedID": 24700542,
                        "pubmedImages": "present",
                        "doi": "10.1002/ana.24119"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 6,
                        "authors": "Chen, Y.-Z., Matsushita, M. M., Robertson, P., Rieder, M., Girirajan, S., Antonacci, F., Lipe, H., Eichler, E. E., Nickerson, D. A., Bird, T. D., Raskind, W. H.",
                        "title": "Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.",
                        "source": "Arch. Neurol. 69: 630-635, 2012.",
                        "pubmedID": 22782511,
                        "pubmedImages": "present",
                        "doi": "10.1001/archneurol.2012.54"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 7,
                        "authors": "Dean, M., Messiaen, L., Cooper, G. M., Amaral, M. D., Rashid, S., Korf, B. R., Standaert, D. G.",
                        "title": "Child neurology: spastic paraparesis and dystonia with a novel ADCY5 mutation.",
                        "source": "Neurology 93: 510-514, 2019.",
                        "pubmedID": 31501304,
                        "doi": "10.1212/WNL.0000000000008089"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 8,
                        "authors": "Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T.",
                        "title": "Hereditary benign chorea: clinical and genetic features of a distinct disease.",
                        "source": "Neurology 57: 106-110, 2001.",
                        "pubmedID": 11445636,
                        "doi": "10.1212/wnl.57.1.106"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 9,
                        "authors": "Fernandez, M., Raskind, W., Wolff, J., Matsushita, M., Yuen, E., Graf, W., Lipe, H., Bird, T.",
                        "title": "Familial dyskinesia and facial myokymia (FDFM): a novel movement disorder.",
                        "source": "Ann. Neurol. 49: 486-492, 2001.",
                        "pubmedID": 11310626
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 10,
                        "authors": "Kim, K.-S., Lee, K.-W., Lee, K.-W., Im, J.-Y., Yoo, J. Y., Kim, S.-W., Lee, J.-K., Nestler, E. J., Han, P.-L.",
                        "title": "Adenylyl cyclase type 5 (AC5) is an essential mediator of morphine action.",
                        "source": "Proc. Nat. Acad. Sci. 103: 3908-3913, 2006.",
                        "pubmedID": 16537460,
                        "pubmedImages": "present",
                        "doi": "10.1073/pnas.0508812103"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 11,
                        "authors": "Kumar, K. R., Davis, R. L., Tchan, M. C., Wali, G. M., Mahant, N., Ng, K., Kotschet, K., Siow, S.-F., Gu, J., Walls, Z., Kang, C., Wali, G., {and 16 others}",
                        "title": "Whole genome sequencing for the genetic diagnosis of heterogenous dystonia phenotypes.",
                        "source": "Parkinsonism Relat. Disord. 69: 111-118, 2019.",
                        "pubmedID": 31731261,
                        "doi": "10.1016/j.parkreldis.2019.11.004"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 12,
                        "authors": "Meneret, A., Gras, D., McGovern, E., Roze, E.",
                        "title": "Caffeine and the dyskinesia related to mutations in the ADCY5 gene.",
                        "source": "Ann. Intern. Med. 171: 439, 2019.",
                        "pubmedID": 31181574,
                        "doi": "10.7326/L19-0038"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 13,
                        "authors": "Shetty, K., Sarma, A. S., Devan, M., Dalal, A., Dash, G. K., Jannabhatla, A., Patil, S. J.",
                        "title": "Recurrent ADCY5 mutation in mosaic form with nocturnal paroxysmal dyskinesias and video electroencephalography documentation of dramatic response to caffeine treatment.",
                        "source": "J. Mov. Disord. 13: 238-240, 2020.",
                        "pubmedID": 32713175,
                        "doi": "10.14802/jmd.20014"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 14,
                        "authors": "Tunc, S., Bruggemann, N., Baaske, M. K., Hartmann, C., Grutz, K., Westenberger, A., Klein, C., Munchau, A., Baumer, T.",
                        "title": "Facial twitches in ADCY5-associated disease--myokymia or myoclonus? An electromyography study.",
                        "source": "Parkinsonism Relat. Disord. 40: 73-75, 2017.",
                        "pubmedID": 28442302,
                        "doi": "10.1016/j.parkreldis.2017.04.013"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 15,
                        "authors": "Vijiaratnam, N., Bhatia, K. P., Lang, A. E., Raskind, W. H., Espay, A. J.",
                        "title": "ADCY5-related dyskinesia: improving clinical detection of an evolving disorder.",
                        "source": "Mov. Disord. Clin. Pract. 6: 512-520, 2019.",
                        "pubmedID": 31538084,
                        "doi": "10.1002/mdc3.12816"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 16,
                        "authors": "Waalkens, A. J. E., Vansenne, F., van der Hout, A. H., Zutt, R., Mourmans, J., Tolosa, E., de Koning, T. J., Tijssen, M. A. J.",
                        "title": "Expanding the ADCY5 phenotype toward spastic paraparesis: a mutation in the M2 domain.",
                        "source": "Neurol. Genet. 4: e214, 2018.",
                        "pubmedID": 29473048,
                        "doi": "10.1212/NXG.0000000000000214"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 606703,
                        "referenceNumber": 17,
                        "authors": "Westenberger, A., Max, C., Bruggemann, N., Domingo, A., Grutz, K., Pawlack, H., Weissbach, A., Kuhn, A. A., Spiegler, J., Lang, A. E., Sperner, J., Fung, V. S. C., Schallner, J., Gillessen-Kaesbach, G., Munchau, A., Klein, C.",
                        "title": "Alternating hemiplegia of childhood as a new presentation of adenylate cyclase 5-mutation-associated disease: a report of two cases.",
                        "source": "J. Pediat. 181: 306-308, 2017.",
                        "pubmedID": 27931826,
                        "doi": "10.1016/j.jpeds.2016.10.079"
                    }
                }
            ],
            "externalLinks": {
                "swissProtIDs": "O95622",
                "mgiHumanDisease": false,
                "wormbaseDO": false,
                "nbkIDs": "NBK263441;;ADCY5 Dyskinesia",
                "orphanetDiseases": "324588;;21790;;Familial dyskinesia and facial myokymia",
                "ordrDiseases": "12722;;Familial dyskinesia and facial myokymia",
                "decipherGene": false,
                "geneticsHomeReferenceIDs": "condition;;ADCY5-related dyskinesia;;adcy5-related-dyskinesia",
                "umlsIDs": "C5551343",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "contributors": "Hilary J. Vernon - updated : 06/02/2022\nCassandra L. Kniffin - updated : 12/07/2021\nCassandra L. Kniffin - updated : 4/10/2014\nCassandra L. Kniffin - updated : 8/20/2012",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "#",
            "mimNumber": 619651,
            "status": "live",
            "titles": {
                "preferredTitle": "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA; NEDHYD"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 619651,
                        "referenceNumber": 1,
                        "authors": "Kaiyrzhanov, R., Zaki, M. S., Maroofian, R., Dominik, N., Rad, A., Vona, B., Houlden, H.",
                        "title": "A novel homozygous ADCY5 variant is associated with a neurodevelopmental disorder and movement abnormalities.",
                        "source": "Mov. Disord. Clin. Pract. 8: 1140-1143, 2021.",
                        "pubmedID": 34631954,
                        "doi": "10.1002/mdc3.13310"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 619651,
                        "referenceNumber": 2,
                        "authors": "Okamoto, N., Miya, F., Kitai, Y., Tsunoda, T., Kato, M., Saitoh, S., Kanemura, Y., Kosaki, K.",
                        "title": "Homozygous ADCY5 mutation causes early-onset movement disorder with severe intellectual disability.",
                        "source": "Neurol. Sci. 42: 2975-2978, 2021.",
                        "pubmedID": 33704598,
                        "doi": "10.1007/s10072-021-05152-y"
                    }
                }
            ],
            "externalLinks": {
                "swissProtIDs": "O95622",
                "mgiHumanDisease": false,
                "wormbaseDO": false,
                "decipherGene": false,
                "umlsIDs": "C5562038",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "#",
            "mimNumber": 619647,
            "status": "live",
            "titles": {
                "preferredTitle": "DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE; DSKOR"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 619647,
                        "referenceNumber": 1,
                        "authors": "Barrett, M. J., Williams, E. S., Chambers, C., Dhamija, R.",
                        "title": "Autosomal recessive inheritance of ADCY5-related generalized dystonia and myoclonus.",
                        "source": "Neurol. Genet. 3: 193, 2017.",
                        "pubmedID": 28971144,
                        "doi": "10.1212/NXG.0000000000000193"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 619647,
                        "referenceNumber": 2,
                        "authors": "Bohlega, S. A., Abou-Al-Shaar, H., AlDakheel, A., Alajlan, H., Bohlega, B. S., Meyer, B. F., Monies, D., Cupler, E. J.,, Al-Saif, A. M.",
                        "title": "Autosomal recessive ADCY5-related dystonia and myoclonus: expanding the genetic spectrum of ADCY5-related movement disorders.",
                        "source": "Parkinsonism Relat. Disord. 64: 145-149, 2019.",
                        "pubmedID": 30975617,
                        "doi": "10.1016/j.parkreldis.2019.02.039"
                    }
                }
            ],
            "externalLinks": {
                "swissProtIDs": "O95622",
                "mgiHumanDisease": false,
                "wormbaseDO": false,
                "decipherGene": false,
                "umlsIDs": "C5562036",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "%",
            "mimNumber": 613460,
            "status": "live",
            "titles": {
                "preferredTitle": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 6; FGQTL6",
                "includedTitles": "BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 3, INCLUDED; BWQTL3, INCLUDED;;\nPLASMA GLUCOSE, 2-HOUR, QUANTITATIVE TRAIT LOCUS 1, INCLUDED; PGQTL1, INCLUDED"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 1,
                        "authors": "Barker, D. J. P., Hales, C. N., Fall, C. H. D., Osmond, C., Phipps, K., Clark, P. M. S.",
                        "title": "Type 2 (non-insulin-dependent) diabetes mellitus, hypertension and hyperlipidaemia (syndrome X): relation to reduced fetal growth.",
                        "source": "Diabetologia 36: 62-67, 1993.",
                        "pubmedID": 8436255,
                        "doi": "10.1007/BF00399095"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 2,
                        "authors": "Bernstein, I. M., Mongeon, J. A., Badger, G. J., Solomon, L., Heil, S. H., Higgins, S. T.",
                        "title": "Maternal smoking and its association with birth weight.",
                        "source": "Obstet. Gynec. 106: 986-991, 2005.",
                        "pubmedID": 16260516,
                        "doi": "10.1097/01.AOG.0000182580.78402.d2"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 3,
                        "authors": "Dupuis, J., Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., Jackson, A. U., Wheeler, E., Glazer, N. L., Bouatia-Naji, N., Gloyn, A. L., Lindgren, C. M., Magi, R., {and 295 others}",
                        "title": "New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.",
                        "source": "Nature Genet. 42: 105-116, 2010. Note: Erratum: Nature Genet. 42: 464 only, 2010.",
                        "pubmedID": 20081858,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.520"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 4,
                        "authors": "Freathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., {and 74 others}",
                        "title": "Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.",
                        "source": "Nature Genet. 42: 430-435, 2010.",
                        "pubmedID": 20372150,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.567"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 5,
                        "authors": "Horikoshi, M., Yaghootkar, H., Mook-Kanamori, D. O., Sovio, U., Taal, H. R., Hennig, B. J., Bradfield, J. P., St Pourcain, B., Evans, D. M., Charoen, P., Kaakinen, M., Cousminer, D. L., {and 137 others}",
                        "title": "New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.",
                        "source": "Nature Genet. 45: 76-82, 2013.",
                        "pubmedID": 23202124,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.2477"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613460,
                        "referenceNumber": 6,
                        "authors": "Saxena, R., Hivert, M.-F., Langenberg, C., Tanaka, T., Pankow, J. S., Vollenweider, P., Lyssenko, V., Bouatia-Naji, N., Dupuis, J., Jackson, A. U., Kao, W. H. L., Li, M., {and 143 others}",
                        "title": "Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.",
                        "source": "Nature Genet. 42: 142-148, 2010.",
                        "pubmedID": 20081857,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.521"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "100499168",
                "mgiHumanDisease": false,
                "wormbaseDO": false,
                "decipherGene": false,
                "umlsIDs": "C3150710,C3150711,C3150712",
                "gtr": false,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "contributors": "Ada Hamosh - updated : 04/22/2013",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "*",
            "mimNumber": 610392,
            "status": "live",
            "titles": {
                "preferredTitle": "MYC-BINDING PROTEIN 2; MYCBP2",
                "alternativeTitles": "PROTEIN ASSOCIATED WITH MYC; PAM;;\nKIAA0916"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 1,
                        "authors": "Bredrup, C., Johansson, S., Bindoff, L. A., Sztromwasser, P., Krakenes, J., Mellgren, A. E. C., Bruras, K. R., Lind, O., Boman, H., Knappskog, P. M., Rodahl, E.",
                        "title": "High myopia-excavated optic disc anomaly associated with a frameshift mutation in the MYC-binding protein 2 gene (MYCBP2).",
                        "source": "Am. J. Ophthal. 159: 973-979, 2015.",
                        "pubmedID": 25634536,
                        "doi": "10.1016/j.ajo.2015.01.021"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 2,
                        "authors": "Gao, X., Patel, T. B.",
                        "title": "Histidine residues 912 and 913 in protein associated with Myc are necessary for the inhibition of adenylyl cyclase activity.",
                        "source": "Molec. Pharm. 67: 42-49, 2005.",
                        "pubmedID": 15470080,
                        "doi": "10.1124/mol.104.005355"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 3,
                        "authors": "Guo, Q., Xie, J., Dang, C. V., Liu, E. T., Bishop, J. M.",
                        "title": "Identification of a large Myc-binding protein that contains RCC1-like repeats.",
                        "source": "Proc. Nat. Acad. Sci. 95: 9172-9177, 1998.",
                        "pubmedID": 9689053,
                        "pubmedImages": "present",
                        "doi": "10.1073/pnas.95.16.9172"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 4,
                        "authors": "Murthy, V., Han, S., Beauchamp, R. L., Smith, N., Haddad, L. A., Ito, N., Ramesh, V.",
                        "title": "Pam and its ortholog highwire interact with and may negatively regulate the TSC1-TSC2 complex.",
                        "source": "J. Biol. Chem. 279: 1351-1358, 2004.",
                        "pubmedID": 14559897,
                        "doi": "10.1074/jbc.M310208200"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 5,
                        "authors": "Nagase, T., Ishikawa, K., Suyama, M., Kikuno, R., Hirosawa, M., Miyajima, N., Tanaka, A., Kotani, H., Nomura, N., Oharo, O.",
                        "title": "Prediction of the coding sequences of unidentified human genes. XII. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.",
                        "source": "DNA Res. 5: 355-364, 1998.",
                        "pubmedID": 10048485,
                        "doi": "10.1093/dnares/5.6.355"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 6,
                        "authors": "Pao, K.-C., Wood, N. T., Knebel, A., Rafie, K., Stanley, M., Mabbitt, P. D., Sundaramoorthy, R., Hofmann, K., van Aalten, D. M. F., Virdee, S.",
                        "title": "Activity-based E3 ligase profiling uncovers an E3 ligase with esterification activity.",
                        "source": "Nature 556: 381-385, 2018.",
                        "pubmedID": 29643511,
                        "doi": "10.1038/s41586-018-0026-1"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 610392,
                        "referenceNumber": 7,
                        "authors": "Pierre, S. C., Hausler, J., Birod, K., Geisslinger, G., Scholich, K.",
                        "title": "PAM mediates sustained inhibition of cAMP signaling by sphingosine-1-phosphate.",
                        "source": "EMBO J. 23: 3031-3040, 2004.",
                        "pubmedID": 15257286,
                        "pubmedImages": "present",
                        "doi": "10.1038/sj.emboj.7600321"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "23077",
                "hgncID": "23386",
                "ensemblIDs": "ENSG00000005810,ENST00000544440;;;ENST00000544440",
                "approvedGeneSymbols": "MYCBP2",
                "ncbiReferenceSequences": "NM_015057;;;NM_015057",
                "genbankNucleotideSequences": "1858741,2133862,3319325,4240320,5106782,5817141,7021960,10341739,10435961,10437723,10437786,11558560,13157532,13619256,16000683,21751294,31667926,34366230,34783522,47383055,47383056,71516116,527463539,2033710940",
                "proteinSequences": "3319326,4240321,5106783,5817142,7021961,34783523,119600970,119600971,119600972,119600973,291190787,1407720867",
                "swissProtIDs": "O75592",
                "mgiIDs": "MGI:2179432",
                "mgiHumanDisease": false,
                "wormbaseIDs": "WBGene00004457,WBGene00017190",
                "wormbaseDO": false,
                "flybaseIDs": "FBgn0030600",
                "zfinIDs": "ZDB-GENE-030616-132",
                "hprdIDs": "10104",
                "decipherGene": true,
                "umlsIDs": "C1428063",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": true,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": true,
                "pharmgkbIDs": "PA134871126"
            },
            "contributors": "Ada Hamosh - updated : 09/07/2018\nMarla J. F. O'Neill - updated : 05/08/2018",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "%",
            "mimNumber": 613219,
            "status": "live",
            "titles": {
                "preferredTitle": "FASTING PLASMA GLUCOSE LEVEL QUANTITATIVE TRAIT LOCUS 2; FGQTL2",
                "includedTitles": "BIRTH WEIGHT QUANTITATIVE TRAIT LOCUS 1, INCLUDED; BWQTL1, INCLUDED"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 1,
                        "authors": "Barker, D. J. P., Hales, C. N., Fall, C. H. D., Osmond, C., Phipps, K., Clark, P. M. S.",
                        "title": "Type 2 (non-insulin-dependent) diabetes mellitus, hypertension and hyperlipidaemia (syndrome X): relation to reduced fetal growth.",
                        "source": "Diabetologia 36: 62-67, 1993.",
                        "pubmedID": 8436255,
                        "doi": "10.1007/BF00399095"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 2,
                        "authors": "Dupuis, J., Langenberg, C., Prokopenko, I., Saxena, R., Soranzo, N., Jackson, A. U., Wheeler, E., Glazer, N. L., Bouatia-Naji, N., Gloyn, A. L., Lindgren, C. M., Magi, R., {and 295 others}",
                        "title": "New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.",
                        "source": "Nature Genet. 42: 105-116, 2010. Note: Erratum: Nature Genet. 42: 464 only, 2010.",
                        "pubmedID": 20081858,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.520"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 3,
                        "authors": "Freathy, R. M., Mook-Kanamori, D. O., Sovio, U., Prokopenko, I., Timpson, N. J., Berry, D. J., Warrington, N. M., Widen, E., Hottenga, J. J., Kaakinen, M., Lange, L. A., Bradfield, J. P., {and 74 others}",
                        "title": "Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight.",
                        "source": "Nature Genet. 42: 430-435, 2010.",
                        "pubmedID": 20372150,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.567"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 4,
                        "authors": "Freathy, R. M., Weedon, M. N., Bennett, A., Hypponen, E., Relton, C. L., Knight, B., Shields, B., Parnell, K. S., Groves, C. J., Ring, S. M., Pembrey, M. E., Ben-Shlomo, Y., Strachan, D. P., Power, C., Jarvelin, M.-R., McCarthy, M. I., Smith, G. D., Hattersley, A. T., Frayling, T. M.",
                        "title": "Type 2 diabetes TCF7L2 risk genotypes alter birth weight: a study of 24,053 individuals.",
                        "source": "Am. J. Hum. Genet. 80: 1150-1161, 2007.",
                        "pubmedID": 17503332,
                        "pubmedImages": "present",
                        "doi": "10.1086/518517"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 5,
                        "authors": "Hattersley, A. T., Tooke, J. E.",
                        "title": "The fetal insulin hypothesis: an alternative explanation of the association of low birthweight with diabetes and vascular disease.",
                        "source": "Lancet 353: 1789-1792, 1999.",
                        "pubmedID": 10348008,
                        "doi": "10.1016/S0140-6736(98)07546-1"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 6,
                        "authors": "Horikoshi, M., Yaghootkar, H., Mook-Kanamori, D. O., Sovio, U., Taal, H. R., Hennig, B. J., Bradfield, J. P., St Pourcain, B., Evans, D. M., Charoen, P., Kaakinen, M., Cousminer, D. L., {and 137 others}",
                        "title": "New loci associated with birth weight identify genetic links between intrauterine growth and adult height and metabolism.",
                        "source": "Nature Genet. 45: 76-82, 2013.",
                        "pubmedID": 23202124,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.2477"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 7,
                        "authors": "Ishida, M., Monk, D., Duncan, A. J., Abu-Amero, S., Chong, J., Ring, S. M., Pembrey, M. E., Hindmarsh, P. C., Whittaker, J. C., Stanier, P., Moore, G. E.",
                        "title": "Maternal inheritance of a promoter variant in the imprinted PHLDA2 gene significantly increases birth weight.",
                        "source": "Am. J. Hum. Genet. 90: 715-719, 2012.",
                        "pubmedID": 22444668,
                        "pubmedImages": "present",
                        "doi": "10.1016/j.ajhg.2012.02.021"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 8,
                        "authors": "Prokopenko, I., Langenberg, C., Florez, J. C., Saxena, R., Soranzo, N., Thorleifsson, G., Loos, R. J. F., Manning, A. K., Jackson, A. U., Aulchenko, Y., Potter, S. C., Erdos, M. R., {and 96 others}",
                        "title": "Variants in MTNR1B influence fasting glucose levels.",
                        "source": "Nature Genet. 41: 77-81, 2009.",
                        "pubmedID": 19060907,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.290"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 613219,
                        "referenceNumber": 9,
                        "authors": "Weedon, M. N., Clark, V. J., Qian, Y., Ben-Shlomo, Y., Timpson, N., Ebrahim, S., Lawlor, D. A., Pembrey, M. E., Ring, S., Wilkin, T. J., Voss, L. D., Jeffery, A. N., {and 11 others}",
                        "title": "A common haplotype of the glucokinase gene alters fasting glucose and birth weight: association in six studies and population-genetics analyses.",
                        "source": "Am. J. Hum. Genet. 79: 991-1001, 2006.",
                        "pubmedID": 17186458,
                        "pubmedImages": "present",
                        "doi": "10.1086/509517"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "100379216",
                "mgiHumanDisease": false,
                "wormbaseDO": false,
                "decipherGene": false,
                "umlsIDs": "C2750735,C3150459",
                "gtr": false,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "contributors": "Ada Hamosh - updated : 4/24/2013\nAda Hamosh - updated : 7/25/2012\nAda Hamosh - updated : 6/18/2010",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "#",
            "mimNumber": 118700,
            "status": "live",
            "titles": {
                "preferredTitle": "CHOREA, BENIGN HEREDITARY; BHC",
                "alternativeTitles": "BCH;;\nHEREDITARY PROGRESSIVE CHOREA WITHOUT DEMENTIA"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 1,
                        "authors": "Behan, P. O., Bone, I.",
                        "title": "Hereditary chorea without dementia.",
                        "source": "J. Neurol. Neurosurg. Psychiat. 40: 687-691, 1977.",
                        "pubmedID": 144176,
                        "doi": "10.1136/jnnp.40.7.687"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 2,
                        "authors": "Bird, T. D., Carlson, C. B., Hall, J. G.",
                        "title": "Familial essential ('benign') chorea.",
                        "source": "J. Med. Genet. 13: 357-362, 1976.",
                        "pubmedID": 1003446,
                        "doi": "10.1136/jmg.13.5.357"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 3,
                        "authors": "Breedveld, G. J., Percy, A. K., MacDonald, M. E., de Vries, B. B. A., Yapijakis, C., Dure, L. S., Ippel, E. F., Sandkuijl, L. A., Heutink, P., Arts, W. F. M.",
                        "title": "Clinical and genetic heterogeneity in benign hereditary chorea.",
                        "source": "Neurology 59: 579-584, 2002.",
                        "pubmedID": 12196653,
                        "doi": "10.1212/wnl.59.4.579"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 4,
                        "authors": "Breedveld, G. J., van Dongen, J. W. F., Danesino, C., Guala, A., Percy, A. K., Dure, L. S., Harper, P., Lazarou, L. P., van der Linde, H., Joosse, M., Gruters, A., MacDonald, M. E., de Vries, B. B. A., Arts, W. F. M., Oostra, B. A., Krude, H., Heutink, P.",
                        "title": "Mutations in TITF-1 are associated with benign hereditary chorea.",
                        "source": "Hum. Molec. Genet. 11: 971-979, 2002.",
                        "pubmedID": 11971878,
                        "doi": "10.1093/hmg/11.8.971"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 5,
                        "authors": "Chen, D.-H., Meneret, A., Friedman, J. R., Korvatska, O., Gad, A., Bonkowski, E. S., Stessman, H. A., Doummar, D., Mignot, C., Anheim, M., Bernes, S., Davis, M. Y., {and 19 others}",
                        "title": "ADCY5-related dyskinesia: broader spectrum and genotype-phenotype correlations.",
                        "source": "Neurology 85: 2026-2035, 2015.",
                        "pubmedID": 26537056,
                        "pubmedImages": "present",
                        "doi": "10.1212/WNL.0000000000002058"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 6,
                        "authors": "Chun, R. W. M., Daly, R. F., Mansheim, B. J., Jr., Wolcott, G. J.",
                        "title": "Benign familial chorea with onset in childhood.",
                        "source": "JAMA 225: 1603-1607, 1973.",
                        "pubmedID": 4269386
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 7,
                        "authors": "de Vries, B. B. A., Arts, W. F. M., Breedveld, G. J., Hoogeboom, J. J. M., Niermeijer, M. F., Heutink, P.",
                        "title": "Benign hereditary chorea of early onset maps to chromosome 14q.",
                        "source": "Am. J. Hum. Genet. 66: 136-142, 2000.",
                        "pubmedID": 10631144,
                        "pubmedImages": "present",
                        "doi": "10.1086/302725"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 8,
                        "authors": "Fernandez, M., Raskind, W., Matsushita, M., Wolff, J., Lipe, H., Bird, T.",
                        "title": "Hereditary benign chorea: clinical and genetic features of a distinct disease.",
                        "source": "Neurology 57: 106-110, 2001.",
                        "pubmedID": 11445636,
                        "doi": "10.1212/wnl.57.1.106"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 9,
                        "authors": "Haerer, A. F., Currier, R. D., Jackson, J. F.",
                        "title": "Hereditary nonprogressive chorea of early onset.",
                        "source": "New Eng. J. Med. 276: 1220-1224, 1967.",
                        "pubmedID": 4225827,
                        "doi": "10.1056/NEJM196706012762202"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 10,
                        "authors": "Harper, P. S.",
                        "title": "Benign hereditary chorea: clinical and genetic aspects.",
                        "source": "Clin. Genet. 13: 85-95, 1978.",
                        "pubmedID": 624192,
                        "doi": "10.1111/j.1399-0004.1978.tb04133.x"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 11,
                        "authors": "Kleiner-Fisman, G., Rogaeva, E., Halliday, W., Houle, S., Kawarai, T., Sato, C., Medeiros, H., St. George-Hyslop, P. H., Lang, A. E.",
                        "title": "Benign hereditary chorea: clinical, genetic, and pathological findings.",
                        "source": "Ann. Neurol. 54: 244-247, 2003.",
                        "pubmedID": 12891678,
                        "doi": "10.1002/ana.10637"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 12,
                        "authors": "MacMillan, J. C., Morrison, P. J., Nevin, N. C., Shaw, D. J., Harper, P. S., Quarrell, O. W. J., Snell, R. G.",
                        "title": "Identification of an expanded CAG repeat in the Huntington's disease gene (IT15) in a family reported to have benign hereditary chorea.",
                        "source": "J. Med. Genet. 30: 1012-1013, 1993.",
                        "pubmedID": 8133497,
                        "doi": "10.1136/jmg.30.12.1012"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 13,
                        "authors": "Pincus, J. H., Chutorian, A.",
                        "title": "Familial benign chorea with intention tremor: a clinical entity.",
                        "source": "J. Pediat. 70: 724-729, 1967.",
                        "pubmedID": 4225654,
                        "doi": "10.1016/s0022-3476(67)80322-6"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 14,
                        "authors": "Quarrell, O. W. J., Youngman, S., Sarfarazi, M., Harper, P. S.",
                        "title": "Absence of close linkage between benign hereditary chorea and the locus D4S10 (probe G8).",
                        "source": "J. Med. Genet. 25: 191-194, 1988.",
                        "pubmedID": 2895189,
                        "doi": "10.1136/jmg.25.3.191"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 15,
                        "authors": "Robinson, R. O., Thornett, C. E. E.",
                        "title": "Benign hereditary chorea--response to steroids.",
                        "source": "Dev. Med. Child Neurol. 27: 814-821, 1985.",
                        "pubmedID": 4092854,
                        "doi": "10.1111/j.1469-8749.1985.tb03807.x"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 16,
                        "authors": "Sadjadpour, K., Amato, R. S.",
                        "title": "Hereditary nonprogressive chorea of early onset: a new entity?",
                        "source": "Adv. Neurol. 1: 79-91, 1973."
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 17,
                        "authors": "Schady, W., Meara, R. J.",
                        "title": "Hereditary progressive chorea without dementia.",
                        "source": "J. Neurol. Neurosurg. Psychiat. 51: 295-297, 1988.",
                        "pubmedID": 2964512,
                        "doi": "10.1136/jnnp.51.2.295"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 18,
                        "authors": "Stapert, J. L. R. H., Busard, B. L. S. M., Gabreels, F. J. M., Renier, W. O., Colon, E. J., Verhey, F. H. M.",
                        "title": "Benign (nonparoxysmal) familial chorea of early onset: an electroneurophysiological examination of two families.",
                        "source": "Brain Dev. 7: 38-42, 1985.",
                        "pubmedID": 3159307,
                        "doi": "10.1016/s0387-7604(85)80056-5"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 118700,
                        "referenceNumber": 19,
                        "authors": "Yapijakis, C., Kapaki, E., Zournas, C., Rentzos, M., Loukopoulos, D., Papageorgiou, C.",
                        "title": "Exclusion mapping of the benign hereditary chorea gene from the Huntington's disease locus: report of a family.",
                        "source": "Clin. Genet. 47: 133-138, 1995.",
                        "pubmedID": 7634535,
                        "doi": "10.1111/j.1399-0004.1995.tb03945.x"
                    }
                }
            ],
            "externalLinks": {
                "swissProtIDs": "P43699",
                "mgiHumanDisease": true,
                "wormbaseDO": true,
                "nbkIDs": "NBK185066;;NKX2-1-Related Disorders",
                "orphanetDiseases": "1429;;1634;;Benign hereditary chorea",
                "ordrDiseases": "1305;;Benign hereditary chorea",
                "decipherGene": false,
                "snomedctIDs": "230306001",
                "umlsIDs": "C0393584",
                "diseaseOntologyIDs": "12859",
                "geneticAllianceIDs": "7807",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": false,
                "gwasCatalog": false,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": false
            },
            "contributors": "Cassandra L. Kniffin - updated : 12/07/2021\nCassandra L. Kniffin - updated : 11/22/2005\nCassandra L. Kniffin - reorganized : 12/29/2003\nCassandra L. Kniffin - updated : 12/24/2003\nGeorge E. Tiller - updated : 12/17/2002\nCassandra L. Kniffin - updated : 11/8/2002\nVictor A. McKusick - updated : 12/29/1999",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "*",
            "mimNumber": 137241,
            "status": "live",
            "titles": {
                "preferredTitle": "GASTRIC INHIBITORY POLYPEPTIDE RECEPTOR; GIPR",
                "alternativeTitles": "INSULINOTROPIC POLYPEPTIDE RECEPTOR, GLUCOSE-DEPENDENT"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 1,
                        "authors": "Gremlich, S., Porret, A., Hani, E. H., Cherif, D., Vionnet, N., Froguel, P., Thorens, B.",
                        "title": "Cloning, functional expression, and chromosomal localization of the human pancreatic islet glucose-dependent insulinotropic polypeptide receptor.",
                        "source": "Diabetes 44: 1202-1208, 1995.",
                        "pubmedID": 7556958,
                        "doi": "10.2337/diab.44.10.1202"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 2,
                        "authors": "Kaneko, K., Fu, Y., Lin, H.-Y., Cordoneir, E. L., Mo, Q., Gao, Y., Yao, T., Naylor, J., Howard, V., Saito, K., Xu, P., Chen, S. S., Chen, M.-H., Xu, Y., Williams, K. W., Ravn, P., Fukuda, M.",
                        "title": "Gut-derived GIP activates central Rap1 to impair neural leptin sensitivity during overnutrition.",
                        "source": "J. Clin. Invest. 129: 3786-3791, 2019.",
                        "pubmedID": 31403469,
                        "pubmedImages": "present",
                        "doi": "10.1172/JCI126107"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 3,
                        "authors": "Miyawaki, K., Yamada, Y., Ban, N., Ihara, Y., Tsukiyama, K., Zhou, H., Fujimoto, S., Oku, A., Tsuda, K., Toyokuni, S., Hiai, H., Mizunoya, W., {and 9 others}",
                        "title": "Inhibition of gastric inhibitory polypeptide signaling prevents obesity.",
                        "source": "Nature Med. 8: 738-742, 2002.",
                        "pubmedID": 12068290,
                        "doi": "10.1038/nm727"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 4,
                        "authors": "Miyawaki, K., Yamada, Y., Yano, H., Niwa, H., Ban, N., Ihara,Y., Kubota, A., Fujimoto, S., Kajikawa, M., Kuroe, A., Tsuda, K., Hashimoto, H., Yamashita, T., Jomori, T., Tashiro, F., Miyazaki, J., Seino, Y.",
                        "title": "Glucose intolerance caused by a defect in the entero-insular axis: a study in gastric inhibitory polypeptide receptor knockout mice.",
                        "source": "Proc. Nat. Acad. Sci. 96: 14843-14847, 1999.",
                        "pubmedID": 10611300,
                        "pubmedImages": "present",
                        "doi": "10.1073/pnas.96.26.14843"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 5,
                        "authors": "Saxena, R., Hivert, M.-F., Langenberg, C., Tanaka, T., Pankow, J. S., Vollenweider, P., Lyssenko, V., Bouatia-Naji, N., Dupuis, J., Jackson, A. U., Kao, W. H. L., Li, M., {and 143 others}",
                        "title": "Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.",
                        "source": "Nature Genet. 42: 142-148, 2010.",
                        "pubmedID": 20081857,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.521"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 6,
                        "authors": "Shu, L., Matveyenko, A. V., Kerr-Conte, J., Cho, J.-H., McIntosh, C. H. S., Maedler, K.",
                        "title": "Decreased TCF7L2 protein levels in type 2 diabetes mellitus correlate with downregulation of GIP- and GLP-1 receptors and impaired beta-cell function.",
                        "source": "Hum. Molec. Genet. 18: 2388-2399, 2009. Note: Erratum: Hum. Molec. Genet. 24: 3004 only, 2015.",
                        "pubmedID": 19386626,
                        "pubmedImages": "present",
                        "doi": "10.1093/hmg/ddp178"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 7,
                        "authors": "Stoffel, M., Fernald, A. A., Le Beau, M. M., Bell, G. I.",
                        "title": "Assignment of the gastric inhibitory polypeptide receptor gene (GIPR) to chromosome bands 19q13.2-q13.3 by fluorescence in situ hybridization.",
                        "source": "Genomics 28: 607-609, 1995.",
                        "pubmedID": 7490109,
                        "doi": "10.1006/geno.1995.1203"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 8,
                        "authors": "Usdin, T. B., Mezey, E., Button, D. C., Brownstein, M. J., Bonner, T. I.",
                        "title": "Gastric inhibitory polypeptide receptor, a member of the secretin-vasoactive intestinal peptide receptor family, is widely distributed in peripheral organs and the brain.",
                        "source": "Endocrinology 133: 2861-2870, 1993.",
                        "pubmedID": 8243312,
                        "doi": "10.1210/endo.133.6.8243312"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 9,
                        "authors": "Volz, A., Goke, R., Lankat-Buttgereit, B., Fehmann, H.-C., Bode, H. P., Goke, B.",
                        "title": "Molecular cloning, functional expression, and signal transduction of the GIP-receptor cloned from a human insulinoma.",
                        "source": "FEBS Lett. 373: 23-29, 1995. Note: Erratum: FEBS Lett. 381: 271 only, 1996.",
                        "pubmedID": 7589426,
                        "doi": "10.1016/0014-5793(95)01006-z"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 137241,
                        "referenceNumber": 10,
                        "authors": "Yamada, Y., Hayami, T., Nakamura, K., Kaisaki, P. J., Someya, Y., Wang, C.-Z., Seino, S., Seino, Y.",
                        "title": "Human gastric inhibitory polypeptide receptor: cloning of the gene (GIPR) and cDNA.",
                        "source": "Genomics 29: 773-776, 1995.",
                        "pubmedID": 8575774,
                        "doi": "10.1006/geno.1995.9937"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "2696",
                "hgncID": "4271",
                "ensemblIDs": "ENSG00000010310,ENST00000590918;;;ENST00000590918",
                "approvedGeneSymbols": "GIPR",
                "ncbiReferenceSequences": "NM_000164,NM_001308418,XM_011526709,XM_011526710,XM_011526713,XM_011526715,XM_011526716,XM_047438599,XM_047438600,XM_047438601,XM_047438602,XM_047438603;;;NM_000164",
                "genbankNucleotideSequences": "1066050,1184538,3970930,4558643,17123995,23828744,62739470,66267614,71515159,75516688,103464607,219517784,219519951,2033715243",
                "proteinSequences": "1066051,1346133,1785516,4027861,4503999,4558645,8176715,62739471,66267615,75516689,119577775,119577776,219519952,768007882,768007887,768007897,768007905,768007909,817474024,2217320516,2217320518,2217320521,2217320525,2217320527,2462564393,2462564395,2462564397,2462564399,2462564401,2462564403,2462564405,2462564407,2462564409,2462564411,2462564413",
                "swissProtIDs": "P48546",
                "mgiIDs": "MGI:1352753",
                "mgiHumanDisease": false,
                "wormbaseIDs": "WBGene00007664",
                "wormbaseDO": false,
                "flybaseIDs": "FBgn0260753",
                "zfinIDs": "ZDB-GENE-050516-4",
                "hprdIDs": "00670",
                "decipherGene": true,
                "omiaIDs": "000284;;Diabetes mellitus, type II",
                "umlsIDs": "C1333675",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": true,
                "gwasCatalog": true,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": true,
                "pharmgkbIDs": "PA28682"
            },
            "contributors": "Bao Lige - updated : 01/06/2020\nAda Hamosh - updated : 6/18/2010\nGeorge E. Tiller - updated : 4/1/2010\nAda Hamosh - updated : 7/25/2002\nVictor A. McKusick - updated : 1/4/2000\nAlan F. Scott - updated : 3/27/1996\nAlan F. Scott - updated : 11/9/1995",
            "matches": "adcy5"
        }
    },
    {
        "entry": {
            "prefix": "*",
            "mimNumber": 139312,
            "status": "live",
            "titles": {
                "preferredTitle": "GUANINE NUCLEOTIDE-BINDING PROTEIN, ALPHA-ACTIVATING ACTIVITY POLYPEPTIDE, OLFACTORY TYPE; GNAL",
                "alternativeTitles": "G-ALPHA-OLF"
            },
            "referenceList": [
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 1,
                        "authors": "Belluscio, L., Gold, G. H., Nemes, A., Axel, R.",
                        "title": "Mice deficient in G(olf) are anosmic.",
                        "source": "Neuron 20: 69-81, 1998.",
                        "pubmedID": 9459443,
                        "doi": "10.1016/s0896-6273(00)80435-3"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 2,
                        "authors": "Bressman, S. B., Heiman, G. A., Nygaard, T. G., Ozelius, L. J., Hunt, A. L., Brin, M. F., Gordon, M. F., Moskowitz, C. B., de Leon, D., Burke, R. E., Fahn, S., Risch, N. J., Beakefield, X. O., Kramer, P. L.",
                        "title": "A study of idiopathic torsion dystonia in a non-Jewish family: evidence for genetic heterogeneity.",
                        "source": "Neurology 44: 283-287, 1994.",
                        "pubmedID": 8309575,
                        "doi": "10.1212/wnl.44.2.283"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 3,
                        "authors": "Buck, L. B.",
                        "title": "Information coding in the mammalian olfactory system.",
                        "source": "Cold Spring Harbor Symp. Quant. Biol. 61: 147-155, 1996.",
                        "pubmedID": 9246443
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 4,
                        "authors": "Corradi, J. P., Ravyn, V., Robbins, A. K., Hagan, K. W., Peters, M. F., Bostwick, R., Buono, R. J., Berrettini, W. H., Furlong, S. T.",
                        "title": "Alternative transcripts and evidence of imprinting of GNAL on 18p11.2.",
                        "source": "Molec. Psychiat. 10: 1017-1025, 2005.",
                        "pubmedID": 16044173,
                        "doi": "10.1038/sj.mp.4001713"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 5,
                        "authors": "Corvol, J. C., Studler, J. M., Schonn, J. S., Girault, J. A., Herve, D.",
                        "title": "Galpha(olf) is necessary for coupling D1 and A2a receptors to adenylyl cyclase in the striatum.",
                        "source": "J. Neurochem. 76: 1585-1588, 2001.",
                        "pubmedID": 11238742,
                        "doi": "10.1046/j.1471-4159.2001.00201.x"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 6,
                        "authors": "Fuchs, T., Saunders-Pullman, R., Masuho, I., Luciano, M. S., Raymond, D., Factor, S., Lang, A. E., Liang, T.-W., Trosch, R. M., White, S., Ainehsazan, E., Herve, D., Sharma, N., Ehrlich, M. E., Martemyanov, K. A., Bressman, S. B., Ozelius, L. J.",
                        "title": "Mutations in GNAL cause primary torsion dystonia.",
                        "source": "Nature Genet. 45: 88-92, 2013.",
                        "pubmedID": 23222958,
                        "pubmedImages": "present",
                        "doi": "10.1038/ng.2496"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 7,
                        "authors": "Herve, D., Levi-Strauss, M., Marey-Semper, I., Verney, C., Tassin, J.-P., Glowinski, J., Girault, J.-A.",
                        "title": "G(olf) and Gs in rat basal ganglia: possible involvement of G(olf) in the coupling of dopamine D1 receptor with adenylyl cyclase.",
                        "source": "J. Neurosci. 13: 2237-2248, 1993.",
                        "pubmedID": 8478697,
                        "doi": "10.1523/JNEUROSCI.13-05-02237.1993"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 8,
                        "authors": "Jones, D. T., Reed, R. R.",
                        "title": "Golf: an olfactory neuron specific G protein involved in odorant signal transduction.",
                        "source": "Science 244: 790-795, 1989.",
                        "pubmedID": 2499043,
                        "doi": "10.1126/science.2499043"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 9,
                        "authors": "Mombaerts, P., Wang, F., Dulac, C., Vassar, R., Chao, S. K., Nemes, A., Mendelsohn, M., Edmondson, J., Axel, R.",
                        "title": "The molecular biology of olfactory perception.",
                        "source": "Cold Spring Harbor Symp. Quant. Biol. 61: 135-145, 1996.",
                        "pubmedID": 9246442
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 10,
                        "authors": "Reed, R. R.",
                        "title": "Genetic approaches to mammalian olfaction.",
                        "source": "Cold Spring Harbor Symp. Quant. Biol. 61: 165-172, 1996.",
                        "pubmedID": 9246445
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 11,
                        "authors": "Ronnett, G. V., Snyder, S. H.",
                        "title": "Molecular messengers of olfaction.",
                        "source": "Trends Neurosci. 15: 508-513, 1992.",
                        "pubmedID": 1282752,
                        "doi": "10.1016/0166-2236(92)90104-g"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 12,
                        "authors": "Sakagami, H., Sawamura, Y., Kondo, H.",
                        "title": "Synchronous patchy pattern of gene expression for adenylyl cyclase and phosphodiesterase but discrete expression for G-protein in developing rat striatum.",
                        "source": "Brain Res. Molec. Brain Res. 33: 185-191, 1995.",
                        "pubmedID": 8750876,
                        "doi": "10.1016/0169-328x(95)00123-a"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 13,
                        "authors": "Schwab, S. G., Hallmayer, J., Lerer, B., Albus, M., Borrmann, M., Honig, S., Strauss, M., Segman, R., Lichtermann, D., Knapp, M., Trixler, M., Maier, W., Wildenauer, D. B.",
                        "title": "Support for a chromosome 18p locus conferring susceptibility to functional psychoses in families with schizophrenia, by association and linkage analysis.",
                        "source": "Am. J. Hum. Genet. 63: 1139-1152, 1998.",
                        "pubmedID": 9758604,
                        "doi": "10.1086/302046"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 14,
                        "authors": "Vuoristo, J. T., Berrettini, W. H., Ala-Kokko, L.",
                        "title": "C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11.",
                        "source": "Cytogenet. Cell Genet. 93: 19-22, 2001.",
                        "pubmedID": 11474171,
                        "doi": "10.1159/000056940"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 15,
                        "authors": "Vuoristo, J. T., Berrettini, W. H., Overhauser, J., Prockop, D. J., Ferraro, T. N., Ala-Kokko, L.",
                        "title": "Sequence and genomic organization of the human G-protein Golf-alpha gene (GNAL) on chromosome 18p11, a susceptibility region for bipolar disorder and schizophrenia.",
                        "source": "Molec. Psychiat. 5: 495-501, 2000.",
                        "pubmedID": 11032382,
                        "doi": "10.1038/sj.mp.4000758"
                    }
                },
                {
                    "reference": {
                        "mimNumber": 139312,
                        "referenceNumber": 16,
                        "authors": "Wilkie, T. M., Gilbert, D. J., Olsen, A. S., Chen, X.-N., Amatruda, T. T., Korenberg, J. R., Trask, B. J., de Jong, P., Reed, R. R., Simon, M. I., Jenkins, N. A., Copeland, N. G.",
                        "title": "Evolution of the mammalian G protein alpha subunit multigene family.",
                        "source": "Nature Genet. 1: 85-91, 1992.",
                        "pubmedID": 1302014,
                        "articleUrl": "https://doi.org/10.1038/ng0592-85",
                        "doi": "10.1038/ng0592-85"
                    }
                }
            ],
            "externalLinks": {
                "geneIDs": "2774",
                "hgncID": "4388",
                "ensemblIDs": "ENSG00000141404,ENST00000334049;;;ENST00000334049",
                "approvedGeneSymbols": "GNAL",
                "ncbiReferenceSequences": "NM_001142339,NM_001261443,NM_001261444,NM_001369387,NM_182978,XM_006722324;;;NM_182978",
                "genbankNucleotideSequences": "182967,3239163,20147678,21218133,21623973,21749109,22677448,27843152,28189511,28362786,29477176,44903640,52103876,74230028,79169041,79176643,92103957,146031185,146045660,146126280,158261130,164691427,164696279,194379155,221045669,1036029755,2033714914,2104758966",
                "proteinSequences": "182968,585178,4097329,20147679,21749110,29477177,33695153,44903641,119621978,119621979,158261131,189054105,194379156,215272301,221045670,387598060,387598062,578832131,1609046129,2104758967,2462560277",
                "swissProtIDs": "P38405",
                "locusSpecificDBs": "http://www.LOVD.nl/GNAL;;LOVD 3.0 shared installation (GNAL)",
                "mgiIDs": "MGI:95774",
                "mgiHumanDisease": false,
                "wormbaseIDs": "WBGene00001745",
                "wormbaseDO": false,
                "nbkIDs": "NBK535640;;DYT-GNAL",
                "flybaseIDs": "FBgn0001123",
                "zfinIDs": "ZDB-GENE-041114-26",
                "hprdIDs": "00758",
                "decipherGene": false,
                "snomedctIDs": "719516000",
                "umlsIDs": "C1415145,C4304670",
                "gtr": true,
                "cmgGene": false,
                "keggPathways": true,
                "gwasCatalog": true,
                "clinGenDosage": false,
                "clinGenValidity": false,
                "monarch": true,
                "pharmgkbIDs": "PA28770"
            },
            "contributors": "Cassandra L. Kniffin - updated : 2/12/2013\nMatthew B. Gross - updated : 9/4/2009\nPatricia A. Hartz - updated : 8/9/2006\nJohn Logan Black, III - updated : 7/10/2006\nVictor A. McKusick - updated : 10/26/1998\nVictor A. McKusick - updated : 3/23/1998\nVictor A. McKusick - updated : 9/4/1997",
            "matches": "adcy5"
        }
    }
]