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        "title": "Carcinoembryonic antigen-related cell adhesion molecule 1 inhibits proximal TCR signaling by targeting ZAP-70.",
        "journal": "Journal of immunology (Baltimore, Md. : 1950)",
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        "record_id": "pubmed.10562467",
        "abstract": "",
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    {
        "title": "A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).",
        "journal": "Journal of inherited metabolic disease",
        "date": "2000",
        "authors": "Wrobe D, Henseler M, Huettler S, Pascual Pascual SI, Chabas A, Sandhoff K",
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            }
        ],
        "species": [
            {
                "name": "Homo sapiens",
                "taxid": 9606,
                "evidence": [
                    {
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                        "id": "P07602",
                        "url": "https://www.uniprot.org/uniprotkb/P07602"
                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
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            {
                "evidence": [
                    {
                        "id": "rs121918107",
                        "database": "dbSNP",
                        "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs121918107"
                    },
                    {
                        "id": "rs121918107",
                        "database": "ENSEMBL",
                        "url": "https://www.ensembl.org/id/rs121918107"
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                    {
                        "id": "10682309",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/10682309"
                    },
                    {
                        "id": "17561962",
                        "database": "PubMed",
                        "url": "https://pubmed.ncbi.nlm.nih.gov/17561962"
                    }
                ],
                "glycoeffect": [
                    "n-glyco-sequon-loss"
                ],
                "start_pos": 215,
                "end_pos": 215,
                "sequence_org": "N",
                "sequence_mut": "H",
                "comment": "Germline mutation passed 1 filters: n-glyco-sequon-loss (NST->HST).",
                "chr_id": "10",
                "chr_pos": "71828091",
                "ref_nt": "G",
                "alt_nt": "null",
                "minor_allelic_frequency": "",
                "site_lbl": "N215",
                "disease": [
                    {
                        "disease_id": "DOID:10581",
                        "recommended_name": {
                            "id": "DOID:10581",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "MLD",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "Scholz cerebral sclerosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "deficiency of cerebroside-sulfatase",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "sulfatide lipoidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to sap-B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin b deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "ARSA deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD",
                                "description": ""
                            },
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                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebral sclerosis diffuse metachromatic form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebroside sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "leukodystrophy metachromatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukoencephalopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "sulfatide lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:249900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/249900",
                                "name": "Metachromatic leukodystrophy due to saposin B deficiency",
                                "description": "Metachromatic leukodystrophy due to saposin B deficiency"
                            },
                            {
                                "id": "MIM:250100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/250100",
                                "name": "Metachromatic leukodystrophy",
                                "description": "Metachromatic leukodystrophy"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10581",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10581"
                            }
                        ]
                    }
                ],
                "keywords": [
                    "ebi",
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                    "disease"
                ],
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    {
        "title": "Structure of the asparagine-linked sugar chains of porcine kidney and human urine cerebroside sulfate activator protein.",
        "journal": "Journal of mass spectrometry : JMS",
        "date": "2000",
        "authors": "Faull KF, Johnson J, Kim MJ, To T, Whitelegge JP, Stevens RL, Fluharty CB, Fluharty AL",
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        "title": "Saposin B mobilizes lipids from cholesterol-poor and bis(monoacylglycero)phosphate-rich membranes at acidic pH. Unglycosylated patient variant saposin B lacks lipid-extraction capacity.",
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        "title": "Non-neuronopathic Gaucher disease due to saposin C deficiency.",
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                    },
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                ],
                "sort_fields": []
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            {
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                "sort_fields": []
            }
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    {
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                "gene_name": "PSAP",
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                "glygen_name": "Human",
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                "site_lbl": "T217",
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                        "recommended_name": {
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                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
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                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
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                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
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                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0111330",
                        "recommended_name": {
                            "id": "DOID:0111330",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111330",
                            "name": "combined saposin deficiency",
                            "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "PSAPD",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "combined SAP deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "encephalopathy due to prosaposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined PSAP deficiency",
                                "description": "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses."
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined prosaposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "encephalopathy due to prosaposin deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "PSAPD",
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                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined SAP deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined saposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:611721",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611721",
                                "name": "Combined saposin deficiency",
                                "description": "Combined saposin deficiency"
                            }
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                            },
                            {
                                "id": "0111330",
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                        "disease_id": "DOID:0110961",
                        "recommended_name": {
                            "id": "DOID:0110961",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1."
                        },
                        "synonyms": [
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                                "name": "Gaucher disease due to saposin C deficiency",
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                            },
                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "Gaucher disease caused by mutation in PSAP",
                                "description": ""
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                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
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                            },
                            {
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                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "atypical Gaucher disease due to saposin C deficiency",
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                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "atypical Gaucher's disease due to saposin c deficiency",
                                "description": ""
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                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "Gaucher disease, atypical",
                                "description": ""
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                                "url": "https://www.omim.org/entry/610539",
                                "name": "Gaucher disease, atypical, due to saposin C deficiency",
                                "description": "Gaucher disease, atypical, due to saposin C deficiency"
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                            {
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                            "id": "DOID:10581",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."
                        },
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                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
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                            {
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                                "name": "Scholz cerebral sclerosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "deficiency of cerebroside-sulfatase",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "sulfatide lipoidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to sap-B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin b deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "ARSA deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebral sclerosis diffuse metachromatic form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebroside sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "leukodystrophy metachromatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukoencephalopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "sulfatide lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:249900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/249900",
                                "name": "Metachromatic leukodystrophy due to saposin B deficiency",
                                "description": "Metachromatic leukodystrophy due to saposin B deficiency"
                            },
                            {
                                "id": "MIM:250100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/250100",
                                "name": "Metachromatic leukodystrophy",
                                "description": "Metachromatic leukodystrophy"
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                        ],
                        "unlinked_id_list": [],
                        "evidence": [
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                                "id": "10581",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10581"
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    },
    {
        "title": "Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.",
        "journal": "Proceedings of the National Academy of Sciences of the United States of America",
        "date": "1990",
        "authors": "Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS",
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                    }
                ],
                "common_name": "Human",
                "glygen_name": "Human",
                "reference_species": "Homo sapiens [9606]"
            }
        ],
        "snv": [
            {
                "evidence": [
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                "start_pos": 217,
                "end_pos": 217,
                "subjects_tested": "2053",
                "subjects_positive": "1",
                "frequency": "0.0",
                "sequence_org": "T",
                "sequence_mut": "I",
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                "chr_id": "10",
                "chr_pos": "71828084",
                "ref_nt": "G",
                "alt_nt": "A",
                "minor_allelic_frequency": "",
                "site_lbl": "T217",
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                        "disease_id": "DOID:4159",
                        "recommended_name": {
                            "id": "DOID:4159",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:4159",
                            "name": "skin cancer",
                            "description": "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells."
                        },
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                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "CA - skin cancer",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "malignant neoplasm of skin",
                                "description": ""
                            },
                            {
                                "id": "DOID:4159",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:4159",
                                "name": "melanoma and Non-melanoma skin cancer",
                                "description": ""
                            }
                        ],
                        "unlinked_id_list": [
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                            "DOID:3451"
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                        "evidence": [
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                                "id": "4159",
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                                "url": "https://www.alliancegenome.org/disease/DOID:4159"
                            }
                        ]
                    },
                    {
                        "disease_id": "DOID:0111330",
                        "recommended_name": {
                            "id": "DOID:0111330",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0111330",
                            "name": "combined saposin deficiency",
                            "description": "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1."
                        },
                        "synonyms": [
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "PSAPD",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "combined SAP deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:0111330",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:0111330",
                                "name": "encephalopathy due to prosaposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined PSAP deficiency",
                                "description": "Encephalopathy due to prosaposin deficiency is a lysosomal storage disease belonging to the group of sphingolipidoses."
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined prosaposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "encephalopathy due to prosaposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "PSAPD",
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                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined SAP deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012719",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012719",
                                "name": "combined saposin deficiency",
                                "description": ""
                            },
                            {
                                "id": "MIM:611721",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/611721",
                                "name": "Combined saposin deficiency",
                                "description": "Combined saposin deficiency"
                            }
                        ],
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                                "id": "0111330",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111330"
                            },
                            {
                                "id": "0111330",
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                                "url": "https://www.alliancegenome.org/disease/DOID:0111330"
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                        ]
                    },
                    {
                        "disease_id": "DOID:0110961",
                        "recommended_name": {
                            "id": "DOID:0110961",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:0110961",
                            "name": "atypical Gaucher's disease due to saposin c deficiency",
                            "description": "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1."
                        },
                        "synonyms": [
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                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "Gaucher disease due to saposin C deficiency",
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                            },
                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "Gaucher disease caused by mutation in PSAP",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "PSAP Gaucher disease",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "atypical Gaucher disease due to saposin C deficiency",
                                "description": ""
                            },
                            {
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                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "atypical Gaucher's disease due to saposin c deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0012517",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0012517",
                                "name": "Gaucher disease, atypical",
                                "description": ""
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                            {
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                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/610539",
                                "name": "Gaucher disease, atypical, due to saposin C deficiency",
                                "description": "Gaucher disease, atypical, due to saposin C deficiency"
                            }
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                                "id": "0110961",
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                            },
                            {
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                            "id": "DOID:10581",
                            "resource": "Disease Ontology",
                            "url": "https://disease-ontology.org/term/DOID:10581",
                            "name": "metachromatic leukodystrophy",
                            "description": "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system."
                        },
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                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
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                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
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                                "name": "Scholz cerebral sclerosis",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "deficiency of cerebroside-sulfatase",
                                "description": ""
                            },
                            {
                                "id": "DOID:10581",
                                "resource": "Disease Ontology",
                                "url": "https://disease-ontology.org/term/DOID:10581",
                                "name": "sulfatide lipoidosis",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to sap-B deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009590",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009590",
                                "name": "metachromatic leukodystrophy due to saposin b deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": "Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin.Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes."
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukodystrophy, juvenile form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "ARSA deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "MLD",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "arylsulfatase A deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebral sclerosis diffuse metachromatic form",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "cerebroside sulfatase deficiency",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "leukodystrophy metachromatic",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "metachromatic leukoencephalopathy",
                                "description": ""
                            },
                            {
                                "id": "MONDO:0009591",
                                "resource": "MONDO",
                                "url": "https://monarchinitiative.org/disease/MONDO:0009591",
                                "name": "sulfatide lipidosis",
                                "description": ""
                            },
                            {
                                "id": "MIM:249900",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/249900",
                                "name": "Metachromatic leukodystrophy due to saposin B deficiency",
                                "description": "Metachromatic leukodystrophy due to saposin B deficiency"
                            },
                            {
                                "id": "MIM:250100",
                                "resource": "MIM",
                                "url": "https://www.omim.org/entry/250100",
                                "name": "Metachromatic leukodystrophy",
                                "description": "Metachromatic leukodystrophy"
                            }
                        ],
                        "unlinked_id_list": [],
                        "evidence": [
                            {
                                "id": "10581",
                                "database": "AGR",
                                "url": "https://www.alliancegenome.org/disease/DOID:10581"
                            }
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                    }
                ],
                "keywords": [
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        ],
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        "phosphorylation": [],
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    },
    {
        "title": "Structure of full-length cDNA coding for sulfatide activator, a Co-beta-glucosidase and two other homologous proteins: two alternate forms of the sulfatide activator.",
        "journal": "J. Biochem.",
        "date": "1989",
        "authors": "Nakano T, Sandhoff K, St\u00fcmper J, Christomanou H, Suzuki K",
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