523 lines
15 KiB
Go
523 lines
15 KiB
Go
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package monogenicDiseases
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func getCysticFibrosisDiseaseObject()MonogenicDisease{
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variant1_ReferencesMap := make(map[string]string)
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variant1_ReferencesMap["SNPedia.com - rs113993960"] = "https://www.snpedia.com/index.php/Rs113993960"
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variant1_Object := DiseaseVariant{
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VariantIdentifier: "36965d",
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VariantNames: []string{"deltaF508", "F508del"},
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NucleotideChange: "c.1521_1523delCTT",
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AminoAcidChange: "p.Phe508del",
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VariantRSID: 113993960,
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HealthyBase: "I", //CTT
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DefectiveBase: "D",
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EffectIsMild: false,
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References: variant1_ReferencesMap,
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}
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variant2_ReferencesMap := make(map[string]string)
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variant2_ReferencesMap["SNPedia.com - rs113993959"] = "https://www.snpedia.com/index.php/Rs113993959"
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variant2_Object := DiseaseVariant{
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VariantIdentifier: "5706b0",
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VariantNames: []string{"G542X"},
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NucleotideChange: "c.1624G>T",
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AminoAcidChange: "p.Gly542Ter",
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VariantRSID: 113993959,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant2_ReferencesMap,
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}
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variant3_ReferencesMap := make(map[string]string)
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variant3_ReferencesMap["SNPedia.com - rs77010898"] = "https://www.snpedia.com/index.php/Rs77010898"
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variant3_Object := DiseaseVariant{
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VariantIdentifier: "01a2a0",
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VariantNames: []string{"W1282X"},
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NucleotideChange: "c.3846G>A",
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AminoAcidChange: "p.Trp1282Ter",
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VariantRSID: 77010898,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant3_ReferencesMap,
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}
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variant4_ReferencesMap := make(map[string]string)
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variant4_ReferencesMap["SNPedia.com - rs75527207"] = "https://www.snpedia.com/index.php/Rs75527207"
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variant4_Object := DiseaseVariant{
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VariantIdentifier: "bd4106",
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VariantNames: []string{"G551D"},
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NucleotideChange: "c.1652G>A",
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AminoAcidChange: "p.Gly551Asp",
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VariantRSID: 75527207,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant4_ReferencesMap,
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}
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variant5_ReferencesMap := make(map[string]string)
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variant5_ReferencesMap["SNPedia.com - rs78756941"] = "https://www.snpedia.com/index.php/Rs78756941"
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variant5_Object := DiseaseVariant{
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VariantIdentifier: "4d6f38",
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VariantNames: []string{"621+1G>T"},
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NucleotideChange: "c.489+1G>T",
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AminoAcidChange: "",
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VariantRSID: 78756941,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant5_ReferencesMap,
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}
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variant6_ReferencesMap := make(map[string]string)
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variant6_ReferencesMap["SNPedia.com - rs80034486"] = "https://www.snpedia.com/index.php/Rs80034486"
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variant6_Object := DiseaseVariant{
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VariantIdentifier: "c6135a",
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VariantNames: []string{"N1303K"},
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NucleotideChange: "c.3909C>G",
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AminoAcidChange: "p.Asn1303Lys",
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VariantRSID: 80034486,
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HealthyBase: "C",
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DefectiveBase: "G",
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EffectIsMild: false,
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References: variant6_ReferencesMap,
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}
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variant7_ReferencesMap := make(map[string]string)
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variant7_ReferencesMap["SNPedia.com - rs74597325"] = "https://www.snpedia.com/index.php/Rs74597325"
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variant7_Object := DiseaseVariant{
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VariantIdentifier: "88a7f4",
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VariantNames: []string{"R553X"},
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NucleotideChange: "c.1657C>T",
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AminoAcidChange: "p.Arg553Ter",
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VariantRSID: 74597325,
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HealthyBase: "C",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant7_ReferencesMap,
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}
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variant8_ReferencesMap := make(map[string]string)
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variant8_ReferencesMap["SNPedia.com - rs121908745"] = "https://www.snpedia.com/index.php/Rs121908745"
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variant8_Object := DiseaseVariant{
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VariantIdentifier: "058a4d",
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VariantNames: []string{"Delta I507", "I507del"},
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NucleotideChange: "c.1519_1521delATC",
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AminoAcidChange: "p.Ile507del",
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VariantRSID: 121908745,
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HealthyBase: "I", //ATC
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DefectiveBase: "D",
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EffectIsMild: false,
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References: variant8_ReferencesMap,
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}
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variant9_ReferencesMap := make(map[string]string)
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variant9_ReferencesMap["SNPedia.com - rs75039782"] = "https://www.snpedia.com/index.php/Rs75039782"
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variant9_Object := DiseaseVariant{
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VariantIdentifier: "2a4ddf",
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VariantNames: []string{"3849+10kbC>T"},
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NucleotideChange: "c.3718-2477C>T",
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AminoAcidChange: "",
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VariantRSID: 75039782,
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HealthyBase: "C",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant9_ReferencesMap,
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}
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variant10_ReferencesMap := make(map[string]string)
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variant10_ReferencesMap["SNPedia.com - rs75096551"] = "https://www.snpedia.com/index.php/Rs75096551"
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variant10_Object := DiseaseVariant{
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VariantIdentifier: "e1bcfb",
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VariantNames: []string{"3120+1G>A"},
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NucleotideChange: "c.2988+1G>A",
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AminoAcidChange: "",
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VariantRSID: 75096551,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant10_ReferencesMap,
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}
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variant11_ReferencesMap := make(map[string]string)
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variant11_ReferencesMap["SNPedia.com - rs75096551"] = "https://www.snpedia.com/index.php/Rs75096551"
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variant11_Object := DiseaseVariant{
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VariantIdentifier: "c28795",
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VariantNames: []string{"3120+1G>T"},
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NucleotideChange: "c.2988+1G>T",
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AminoAcidChange: "",
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VariantRSID: 75096551,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant11_ReferencesMap,
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}
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variant12_ReferencesMap := make(map[string]string)
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variant12_ReferencesMap["SNPedia.com - rs78655421"] = "https://www.snpedia.com/index.php/Rs78655421"
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variant12_Object := DiseaseVariant{
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VariantIdentifier: "f1965c",
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VariantNames: []string{"R117H"},
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NucleotideChange: "c.350G>A",
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AminoAcidChange: "p.Arg117His",
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VariantRSID: 78655421,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: true,
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References: variant12_ReferencesMap,
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}
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variant13_ReferencesMap := make(map[string]string)
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variant13_ReferencesMap["SNPedia.com - rs76713772"] = "https://www.snpedia.com/index.php/Rs76713772"
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variant13_Object := DiseaseVariant{
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VariantIdentifier: "3420c1",
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VariantNames: []string{"1717-1G>A"},
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NucleotideChange: "c.1585-1G>A",
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AminoAcidChange: "",
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VariantRSID: 76713772,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant13_ReferencesMap,
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}
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variant14_ReferencesMap := make(map[string]string)
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variant14_ReferencesMap["SNPedia.com - rs76713772"] = "https://www.snpedia.com/index.php/Rs76713772"
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variant14_Object := DiseaseVariant{
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VariantIdentifier: "25d0b4",
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VariantNames: []string{"1717-1G>T"},
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NucleotideChange: "c.1585-1G>T",
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AminoAcidChange: "",
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VariantRSID: 76713772,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant14_ReferencesMap,
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}
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variant15_ReferencesMap := make(map[string]string)
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variant15_ReferencesMap["SNPedia.com - rs80224560"] = "https://www.snpedia.com/index.php/Rs80224560"
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variant15_Object := DiseaseVariant{
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VariantIdentifier: "139ab2",
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VariantNames: []string{"2789+5G>A"},
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NucleotideChange: "c.2657+5G>A",
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AminoAcidChange: "",
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VariantRSID: 80224560,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: true,
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References: variant15_ReferencesMap,
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}
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variant16_ReferencesMap := make(map[string]string)
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variant16_ReferencesMap["SNPedia.com - rs77932196"] = "https://www.snpedia.com/index.php/Rs77932196"
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variant16_Object := DiseaseVariant{
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VariantIdentifier: "f7a12e",
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VariantNames: []string{"R347P"},
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NucleotideChange: "c.1040G>T",
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AminoAcidChange: "p.Arg347Pro",
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VariantRSID: 77932196,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant16_ReferencesMap,
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}
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variant17_ReferencesMap := make(map[string]string)
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variant17_ReferencesMap["SNPedia.com - rs77932196"] = "https://www.snpedia.com/index.php/Rs77932196"
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variant17_Object := DiseaseVariant{
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VariantIdentifier: "deb2e2",
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VariantNames: []string{"R347"},
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NucleotideChange: "c.1040G>C",
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AminoAcidChange: "",
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VariantRSID: 77932196,
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HealthyBase: "G",
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DefectiveBase: "C",
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EffectIsMild: false,
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References: variant17_ReferencesMap,
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}
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variant18_ReferencesMap := make(map[string]string)
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variant18_ReferencesMap["SNPedia.com - rs77932196"] = "https://www.snpedia.com/index.php/Rs77932196"
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variant18_Object := DiseaseVariant{
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VariantIdentifier: "884cf0",
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VariantNames: []string{"R347H"},
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NucleotideChange: "c.1040G>A",
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AminoAcidChange: "p.Arg347His",
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VariantRSID: 77932196,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant18_ReferencesMap,
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}
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variant19_ReferencesMap := make(map[string]string)
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variant19_ReferencesMap["SNPedia.com - rs77932196"] = "https://www.snpedia.com/index.php/Rs77932196"
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variant19_Object := DiseaseVariant{
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VariantIdentifier: "b9fad1",
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VariantNames: []string{"R347P"},
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NucleotideChange: "c.1040G>T",
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AminoAcidChange: "p.Arg347Pro",
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VariantRSID: 77932196,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant19_ReferencesMap,
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}
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variant20_ReferencesMap := make(map[string]string)
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variant20_ReferencesMap["SNPedia.com - rs77188391"] = "https://www.snpedia.com/index.php/Rs77188391"
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variant20_Object := DiseaseVariant{
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VariantIdentifier: "f2448d",
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VariantNames: []string{"711+1G>T"},
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NucleotideChange: "c.579+1G>T",
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AminoAcidChange: "",
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VariantRSID: 77188391,
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HealthyBase: "G",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant20_ReferencesMap,
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}
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variant21_ReferencesMap := make(map[string]string)
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variant21_ReferencesMap["SNPedia.com - rs121909011"] = "https://www.snpedia.com/index.php/Rs121909011"
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variant21_Object := DiseaseVariant{
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VariantIdentifier: "09b96f",
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VariantNames: []string{"R334W"},
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NucleotideChange: "c.1000C>T",
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AminoAcidChange: "p.Arg334Trp",
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VariantRSID: 121909011,
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HealthyBase: "C",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant21_ReferencesMap,
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}
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variant22_ReferencesMap := make(map[string]string)
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variant22_ReferencesMap["SNPedia.com - rs80055610"] = "https://www.snpedia.com/index.php/Rs80055610"
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variant22_Object := DiseaseVariant{
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VariantIdentifier: "2f8651",
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VariantNames: []string{"R560T"},
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NucleotideChange: "c.1679G>C",
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AminoAcidChange: "p.Arg560Thr",
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VariantRSID: 80055610,
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HealthyBase: "G",
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DefectiveBase: "C",
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EffectIsMild: false,
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References: variant22_ReferencesMap,
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}
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variant23_ReferencesMap := make(map[string]string)
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variant23_ReferencesMap["SNPedia.com - rs80055610"] = "https://www.snpedia.com/index.php/Rs80055610"
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variant23_Object := DiseaseVariant{
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VariantIdentifier: "46efe1",
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VariantNames: []string{"R560K"},
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NucleotideChange: "c.1679G>A",
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AminoAcidChange: "p.Arg560Lys",
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VariantRSID: 80055610,
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HealthyBase: "G",
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DefectiveBase: "A",
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EffectIsMild: false,
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References: variant23_ReferencesMap,
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}
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variant24_ReferencesMap := make(map[string]string)
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variant24_ReferencesMap["SNPedia.com - rs74767530"] = "https://www.snpedia.com/index.php/Rs74767530"
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variant24_Object := DiseaseVariant{
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VariantIdentifier: "528406",
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VariantNames: []string{"R1162X"},
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NucleotideChange: "c.3484C>T",
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AminoAcidChange: "p.Arg1162Ter",
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VariantRSID: 74767530,
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HealthyBase: "C",
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DefectiveBase: "T",
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EffectIsMild: false,
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References: variant24_ReferencesMap,
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}
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variant25_ReferencesMap := make(map[string]string)
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variant25_ReferencesMap["SNPedia.com - rs121908747"] = "https://www.snpedia.com/index.php/Rs121908747"
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variant25_Object := DiseaseVariant{
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VariantIdentifier: "e8e8fc",
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VariantNames: []string{"3659delC"},
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NucleotideChange: "c.3528delC",
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AminoAcidChange: "p.Lys1177Serfs",
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VariantRSID: 121908747,
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HealthyBase: "C",
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DefectiveBase: "D",
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EffectIsMild: false,
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References: variant25_ReferencesMap,
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}
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variant26_ReferencesMap := make(map[string]string)
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variant26_ReferencesMap["SNPedia.com - rs74551128"] = "https://www.snpedia.com/index.php/Rs74551128"
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variant26_Object := DiseaseVariant{
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VariantIdentifier: "e60633",
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VariantNames: []string{"A455E"},
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NucleotideChange: "c.1364C>A",
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||
|
AminoAcidChange: "p.Ala455Glu",
|
||
|
VariantRSID: 74551128,
|
||
|
HealthyBase: "C",
|
||
|
DefectiveBase: "A",
|
||
|
EffectIsMild: false,
|
||
|
References: variant26_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
variant27_ReferencesMap := make(map[string]string)
|
||
|
variant27_ReferencesMap["SNPedia.com - rs75961395"] = "https://www.snpedia.com/index.php/Rs75961395"
|
||
|
|
||
|
variant27_Object := DiseaseVariant{
|
||
|
|
||
|
VariantIdentifier: "d72d30",
|
||
|
VariantNames: []string{"G85E"},
|
||
|
NucleotideChange: "c.254G>A",
|
||
|
AminoAcidChange: "p.Gly85Glu",
|
||
|
VariantRSID: 75961395,
|
||
|
HealthyBase: "G",
|
||
|
DefectiveBase: "A",
|
||
|
EffectIsMild: false,
|
||
|
References: variant27_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
variant28_ReferencesMap := make(map[string]string)
|
||
|
variant28_ReferencesMap["SNPedia.com - rs121908746"] = "https://www.snpedia.com/index.php/Rs121908746"
|
||
|
|
||
|
variant28_Object := DiseaseVariant{
|
||
|
|
||
|
VariantIdentifier: "a3b068",
|
||
|
VariantNames: []string{"2184delA"},
|
||
|
NucleotideChange: "c.2052delA",
|
||
|
AminoAcidChange: "p.Lys684Asnfs",
|
||
|
VariantRSID: 121908746,
|
||
|
HealthyBase: "I", //CA
|
||
|
DefectiveBase: "D",
|
||
|
EffectIsMild: false,
|
||
|
References: variant28_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
variant29_ReferencesMap := make(map[string]string)
|
||
|
variant29_ReferencesMap["SNPedia.com - rs121908748"] = "https://www.snpedia.com/index.php/Rs121908748"
|
||
|
|
||
|
variant29_Object := DiseaseVariant{
|
||
|
|
||
|
VariantIdentifier: "770086",
|
||
|
VariantNames: []string{"1898+1G>A"},
|
||
|
NucleotideChange: "c.1766+1G>A",
|
||
|
AminoAcidChange: "",
|
||
|
VariantRSID: 121908748,
|
||
|
HealthyBase: "G",
|
||
|
DefectiveBase: "A",
|
||
|
EffectIsMild: false,
|
||
|
References: variant29_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
variant30_ReferencesMap := make(map[string]string)
|
||
|
variant30_ReferencesMap["SNPedia.com - rs121908748"] = "https://www.snpedia.com/index.php/Rs121908748"
|
||
|
|
||
|
variant30_Object := DiseaseVariant{
|
||
|
|
||
|
VariantIdentifier: "a00f11",
|
||
|
VariantNames: []string{"1898+1G>C"},
|
||
|
NucleotideChange: "c.1766+1G>C",
|
||
|
AminoAcidChange: "",
|
||
|
VariantRSID: 121908748,
|
||
|
HealthyBase: "G",
|
||
|
DefectiveBase: "C",
|
||
|
EffectIsMild: false,
|
||
|
References: variant30_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
variant31_ReferencesMap := make(map[string]string)
|
||
|
variant31_ReferencesMap["SNPedia.com - rs121908748"] = "https://www.snpedia.com/index.php/Rs121908748"
|
||
|
|
||
|
variant31_Object := DiseaseVariant{
|
||
|
|
||
|
VariantIdentifier: "79d73b",
|
||
|
VariantNames: []string{"1898+1G>T"},
|
||
|
NucleotideChange: "c.1766+1G>T",
|
||
|
AminoAcidChange: "",
|
||
|
VariantRSID: 121908748,
|
||
|
HealthyBase: "G",
|
||
|
DefectiveBase: "T",
|
||
|
EffectIsMild: false,
|
||
|
References: variant31_ReferencesMap,
|
||
|
}
|
||
|
|
||
|
cysticFibrosisVariantsList := []DiseaseVariant{variant1_Object, variant2_Object, variant3_Object, variant4_Object, variant5_Object, variant6_Object, variant7_Object, variant8_Object, variant9_Object, variant10_Object, variant11_Object, variant12_Object, variant13_Object, variant14_Object, variant15_Object, variant16_Object, variant17_Object, variant18_Object, variant19_Object, variant20_Object, variant21_Object, variant22_Object, variant23_Object, variant24_Object, variant25_Object, variant26_Object, variant27_Object, variant28_Object, variant29_Object, variant30_Object, variant31_Object}
|
||
|
|
||
|
referencesMap := make(map[string]string)
|
||
|
referencesMap["Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel"] = "https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3110945/"
|
||
|
referencesMap["SNPedia.com - Cystic Fibrosis"] = "https://www.snpedia.com/index.php/Cystic_Fibrosis"
|
||
|
|
||
|
cysticFibrosisObject := MonogenicDisease{
|
||
|
|
||
|
DiseaseName: "Cystic Fibrosis",
|
||
|
GeneName: "CFTR",
|
||
|
DominantOrRecessive: "Recessive",
|
||
|
DiseaseDescription: "A genetic condition that causes severe damage to the body's respiratory and digestive systems. The body creates a thick, sticky mucus that clogs all areas of the human body, especially the lungs and pancreas.",
|
||
|
VariantsList: cysticFibrosisVariantsList,
|
||
|
References: referencesMap,
|
||
|
}
|
||
|
|
||
|
return cysticFibrosisObject
|
||
|
}
|
||
|
|
||
|
|
||
|
|