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SOCS1
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‎notebooks/SOCS1/SOCS1_AISIMD_individuals.json‎

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‎notebooks/SOCS1/SOCS1_individuals.ipynb‎

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‎notebooks/SOCS1/input/SOCS1_AISIMD_individuals.xlsx‎

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notebooks/SOCS1/phenopackets/PMID_32853638_Patient1.json renamed to notebooks/SOCS1/phenopackets/PMID_32853638_Patient_1.json

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"label": "Autoimmune hemolytic anemia"
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}
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},
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{
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"type": {
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"id": "HP:0006538",
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"label": "Recurrent bronchopulmonary infections"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001945",
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{
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"type": {
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"id": "HP:0001904",
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"label": "Neutropenia in presence of anti-neutropil antibodies"
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"label": "Autoimmune neutropenia"
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}
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},
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{
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"type": {
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"id": "HP:0004313",
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"label": "Decreased circulating antibody level"
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"label": "Decreased circulating immunoglobulin concentration"
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}
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},
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{
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"type": {
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"id": "HP:0006538",
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"label": "Recurrent bronchopulmonary infections"
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},
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"excluded": true
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}
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"interpretations": [
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{
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"id": "Patient 1",
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"id": "laNTUiMrjrFgu2Ofdxu9hAl6",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
@@ -75,8 +75,10 @@
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"subjectOrBiosampleId": "Patient 1",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"id": "c108del_SOCS1_NM_003745v2",
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"valueId": "HGNC:19383",
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"symbol": "SOCS1"
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notebooks/SOCS1/phenopackets/PMID_32853638_Patient2.json renamed to notebooks/SOCS1/phenopackets/PMID_32853638_Patient_2.json

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@@ -17,6 +17,13 @@
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"label": "Autoimmune hemolytic anemia"
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}
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},
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{
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"type": {
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"id": "HP:0006538",
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"label": "Recurrent bronchopulmonary infections"
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},
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"excluded": true
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},
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{
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"type": {
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"id": "HP:0001945",
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{
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"type": {
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"id": "HP:0001904",
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"label": "Neutropenia in presence of anti-neutropil antibodies"
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"label": "Autoimmune neutropenia"
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}
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},
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{
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"type": {
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"id": "HP:0001888",
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"label": "Lymphopenia"
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"label": "Decreased total lymphocyte count"
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}
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},
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{
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"type": {
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"id": "HP:0004313",
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"label": "Decreased circulating antibody level"
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"label": "Decreased circulating immunoglobulin concentration"
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{
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"type": {
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"label": "Recurrent bronchopulmonary infections"
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"id": "JK90peBAWuQsCJ9LPCUivG11",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
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"subjectOrBiosampleId": "Patient 2",
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"interpretationStatus": "CAUSATIVE",
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