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‎notebooks/CIAO1/phenopackets/PMID_38950322_P1.json‎

Lines changed: 27 additions & 2 deletions
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@@ -144,7 +144,7 @@
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],
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"interpretations": [
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{
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"id": "sjMHCZW4KoBG54J1zEu0UNj1",
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"progressStatus": "SOLVED",
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"disease": {
@@ -192,6 +192,31 @@
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}
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}
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},
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{
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"subjectOrBiosampleId": "P1",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "CIAO1_SV_Exon_7_deletion",
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"label": "Exon 7 deletion",
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"geneContext": {
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"valueId": "HGNC:14280",
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"symbol": "CIAO1"
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},
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"moleculeContext": "genomic",
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"structuralType": {
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"id": "SO:1000183",
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"label": "chromosome_structure_variation"
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},
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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}
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]
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}
@@ -211,7 +236,7 @@
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}
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"metaData": {
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"resources": [
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{

‎notebooks/CIAO1/phenopackets/PMID_38950322_P2.json‎

Lines changed: 43 additions & 2 deletions
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@@ -146,7 +146,7 @@
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],
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"interpretations": [
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"disease": {
@@ -194,6 +194,47 @@
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}
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}
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}
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{
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"subjectOrBiosampleId": "P2",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c905AtoC_CIAO1_NM_004804v3",
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"geneContext": {
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"valueId": "HGNC:14280",
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"symbol": "CIAO1"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_004804.3:c.905A>C"
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{
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"syntax": "hgvs.g",
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"value": "NC_000002.12:g.96271236A>C"
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{
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"syntax": "hgvs.p",
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"value": "NP_004795.1:p.(His302Pro)"
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}
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],
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},
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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]
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}
@@ -213,7 +254,7 @@
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}
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],
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{

‎notebooks/CIAO1/phenopackets/PMID_38950322_P3.json‎

Lines changed: 43 additions & 2 deletions
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@@ -146,14 +146,55 @@
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],
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"interpretations": [
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{
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"disease": {
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"id": "OMIM:620960",
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"label": "Multiple mitochondrial dysfunctions syndrome 10"
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},
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"genomicInterpretations": [
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{
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c193CtoT_CIAO1_NM_004804v3",
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"geneContext": {
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"valueId": "HGNC:14280",
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"symbol": "CIAO1"
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},
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_004804.3:c.193C>T"
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{
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"value": "NC_000002.12:g.96267374C>T"
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{
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"syntax": "hgvs.p",
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"value": "NP_004795.1:p.(Arg65Trp)"
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"vcfRecord": {
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"chrom": "chr2",
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"ref": "C",
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "P3",
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"interpretationStatus": "CAUSATIVE",
@@ -213,7 +254,7 @@
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{

‎notebooks/CIAO1/phenopackets/PMID_38950322_P4.json‎

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@@ -146,7 +146,7 @@
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],
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"interpretations": [
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{
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"id": "loUtx6PGPrfrhrAfmOks2BS2",
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"id": "OxBVrc2z8BENOWXirhE8LVCw",
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"diagnosis": {
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"disease": {
@@ -194,6 +194,47 @@
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}
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}
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}
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},
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{
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"subjectOrBiosampleId": "P4",
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"interpretationStatus": "CAUSATIVE",
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"variantInterpretation": {
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"acmgPathogenicityClassification": "PATHOGENIC",
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"therapeuticActionability": "UNKNOWN_ACTIONABILITY",
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"variationDescriptor": {
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"id": "c752AtoT_CIAO1_NM_004804v3",
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"geneContext": {
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"valueId": "HGNC:14280",
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"symbol": "CIAO1"
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"expressions": [
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{
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"syntax": "hgvs.c",
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"value": "NM_004804.3:c.752A>T"
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{
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"syntax": "hgvs.g",
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"value": "NC_000002.12:g.96269328A>T"
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},
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{
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"syntax": "hgvs.p",
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"value": "NP_004795.1:p.(His251Leu)"
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}
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],
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"vcfRecord": {
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"chrom": "chr2",
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"pos": 96269328,
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"ref": "A",
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"alt": "T"
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"moleculeContext": "genomic",
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"allelicState": {
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"id": "GENO:0000135",
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"label": "heterozygous"
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}
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}
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}
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}
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]
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}
@@ -213,7 +254,7 @@
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}
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],
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"metaData": {
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{

‎notebooks/CLDN16/phenopackets/PMID_14628289_Family_A_individual_3.json‎

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"disease": {
@@ -125,14 +125,14 @@
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-09-01",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

‎notebooks/CLDN16/phenopackets/PMID_14628289_Family_A_individual_4.json‎

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],
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"interpretations": [
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{
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"diagnosis": {
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"disease": {
@@ -125,14 +125,14 @@
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

‎notebooks/CLDN16/phenopackets/PMID_14628289_Family_A_individual_6.json‎

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],
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"interpretations": [
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{
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@@ -125,14 +125,14 @@
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"metaData": {
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"version": "2025-09-01",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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‎notebooks/CLDN16/phenopackets/PMID_14628289_Family_B_individual_6.json‎

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],
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"interpretations": [
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{
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"id": "U60FdQR5GOmArHqDLkaSDD7L",
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"id": "nglI1z0fkZ44rHOzGWATLvoz",
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"progressStatus": "SOLVED",
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"diagnosis": {
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}
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],
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"metaData": {
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"created": "2025-10-23T13:58:23.606094Z",
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"created": "2026-01-02T16:08:18.291100Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-09-01",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

‎notebooks/CLDN16/phenopackets/PMID_15856319_index_case.json‎

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],
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"interpretations": [
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{
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"id": "Pa55WA83sBiF1bpkKFIb43cx",
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"progressStatus": "SOLVED",
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"diagnosis": {
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"disease": {
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}
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],
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"metaData": {
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"created": "2025-10-23T13:58:23.606251Z",
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"created": "2026-01-02T16:08:18.291121Z",
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"createdBy": "0000-0002-0736-9199",
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"resources": [
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{
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"id": "hp",
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"name": "human phenotype ontology",
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"url": "http://purl.obolibrary.org/obo/hp.owl",
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"version": "2025-09-01",
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"version": "2025-11-24",
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"namespacePrefix": "HP",
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"iriPrefix": "http://purl.obolibrary.org/obo/HP_"
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},

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