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                                "id": "MONDO:0020791",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0020791",
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                            {
                                "id": "MIM:122100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/122100",
                                "name": "Corneal dystrophy, Meesmann 1",
                                "description": "Corneal dystrophy, Meesmann 1"
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                            {
                                "id": "122100",
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                            {
                                "id": "0080670",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:0080670"
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                        "field": "total",
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        "title": "Npw38, a novel nuclear protein possessing a WW domain capable of activating basal transcription.",
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        "authors": "Komuro A, Saeki M, Kato S",
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            {
                "start_pos": 52,
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                "comment": "Enhances transcriptional activation. Reduces transcriptional activation; when associated with A-75. Markedly reduced transcriptional activation; when associated with A-64; A-65 and A-66. Abolishes transcriptional activation; when associated with A-64; A-65; A-66 and A-75.",
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            {
                "start_pos": 64,
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                "sequence_org": "Y",
                "sequence_mut": "A",
                "comment": "No effect on transcriptional activation; when associated with A-65 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-65 and A-66. Abolishes transcriptional activation; when associated with A-52; A-65; A-66 and A-75.",
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            {
                "start_pos": 65,
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                "comment": "No effect on transcriptional activation; when associated with A-64 and A-66. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-66. Abolishes transcriptional activation; when associated with A-52; A-64; A-66 and A-75.",
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                "comment": "No effect on transcriptional activation; when associated with A-64 and A-65. Markedly reduced transcriptional activation; when associated with A-52; A-64 and A-65. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-75.",
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                ],
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            {
                "start_pos": 75,
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                "sequence_mut": "A",
                "comment": "No effect on transcriptional activation. Reduces transcriptional activation; when associated with A-52. Abolishes transcriptional activation; when associated with A-52; A-64; A-65 and A-66.",
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            {
                "start_pos": 78,
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                "sequence_org": "P",
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                "comment": "No effect on transcriptional activation.",
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                        "database": "UniProtKB",
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    {
        "title": "PQBP-1/Npw38, a nuclear protein binding to the polyglutamine tract, interacts with U5-15kD/dim1p via the carboxyl-terminal domain.",
        "journal": "Biochem. Biophys. Res. Commun.",
        "date": "2000",
        "authors": "Waragai M, Junn E, Kajikawa M, Takeuchi S, Kanazawa I, Shibata M, Mouradian M M, Okazawa H",
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    {
        "title": "Genomic organization and alternative transcripts of the human PQBP-1 gene.",
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    {
        "title": "Polar amino acid-rich sequences bind to polyglutamine tracts.",
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    {
        "title": "The patched/hedgehog/smoothened signalling pathway in human breast cancer: no evidence for H133Y SHH, PTCH and SMO mutations.",
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    {
        "title": "The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.",
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        "date": "1999",
        "authors": "Nanni L, Ming JE, Bocian M, Steinhaus K, Bianchi DW, Die-Smulders C, Giannotti A, Imaizumi K, Jones KL, Campo MD, Martin RA, Meinecke P, Pierpont ME, Robin NH, Young ID, Roessler E, Muenke M",
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                            },
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0007733",
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                            },
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                            {
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                            {
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                            {
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                    {
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