citeseek pass

project/graphql/dppkb.graphql

@@ -61,6 +61,7 @@ type Disease
  phenotypes: [Phenotype]
  biochemical: [Biochemical]
  genetic: [Genetic]
+ variants: [Variant]
  environmental: [Environmental]
  treatments: [Treatment]
  categories: [String]
@@ -116,6 +117,13 @@ type EvidenceItem
  explanation: String
  }
 
+type FunctionalEffect
+ {
+ function: String
+ description: String
+ type: String
+ }
+
 type Genetic
  {
  name: String!
@@ -172,6 +180,7 @@ type Pathophysiology
  role: String
  synonyms: [String]
  consequence: String
+ consequences: [String]
  gene: GeneTerm
  pathways: [BiologicalProcessTerm]
  downstream: [String]
@@ -183,13 +192,15 @@ type Pathophysiology
  assays: [AssayTerm]
  mechanisms: [String]
  notes: String
+ frequency: Any
  }
 
 type Phenotype
  {
  category: String
  name: String!
  frequency: Any
+ description: String
  diagnostic: Boolean
  sequelae: [String]
  evidence: [EvidenceItem]
@@ -252,11 +263,20 @@ type Treatment
  reviewNotes: String
  role: String
  mechanism: [Mechanism]
+ examples: [String]
  }
 
 type Variant
  {
  name: String!
  description: String
+ gene: GeneTerm
+ evidence: [EvidenceItem]
+ functionalEffects: [FunctionalEffect]
+ synonyms: [String]
+ identifiers: [Uriorcurie]
+ sequenceLength: Integer
+ clinicalSignificance: ClinicalSignificanceEnum
+ type: String
  }
 

project/jsonld/dppkb.context.jsonld

@@ -1,7 +1,7 @@
 {
  "comments": {
  "description": "Auto generated by LinkML jsonld context generator",
- "generation_date": "2024-09-10T15:16:50",
+ "generation_date": "2024-09-18T11:29:30",
  "source": "dppkb.yaml"
  },
  "@context": {
@@ -115,9 +115,21 @@
  "chemicals": {
  "@id": "chemicals"
  },
+ "clinical_significance": {
+ "@context": {
+ "@vocab": "@null",
+ "text": "skos:notation",
+ "description": "skos:prefLabel",
+ "meaning": "@id"
+ },
+ "@id": "clinical_significance"
+ },
  "consequence": {
  "@id": "consequence"
  },
+ "consequences": {
+ "@id": "consequences"
+ },
  "context": {
  "@id": "context"
  },
@@ -176,6 +188,13 @@
  "@type": "@id",
  "@id": "frequency"
  },
+ "function": {
+ "@id": "function"
+ },
+ "functional_effects": {
+ "@type": "@id",
+ "@id": "functional_effects"
+ },
  "gene": {
  "@context": {
  "@vocab": "@null",
@@ -214,6 +233,10 @@
  "@type": "@id",
  "@id": "has_subtypes"
  },
+ "identifiers": {
+ "@type": "@id",
+ "@id": "identifiers"
+ },
  "incubation_days": {
  "@id": "incubation_days"
  },
@@ -328,6 +351,10 @@
  "sequelae": {
  "@id": "sequelae"
  },
+ "sequence_length": {
+ "@type": "xsd:integer",
+ "@id": "sequence_length"
+ },
  "severity": {
  "@id": "severity"
  },
@@ -375,6 +402,9 @@
  },
  "@id": "triggers"
  },
+ "type": {
+ "@id": "type"
+ },
  "unit": {
  "@id": "unit"
  },
@@ -412,6 +442,9 @@
  "EvidenceItem": {
  "@id": "EvidenceItem"
  },
+ "FunctionalEffect": {
+ "@id": "FunctionalEffect"
+ },
  "Genetic": {
  "@id": "Genetic"
  },