{"subject": "CAID:CA114360", "predicate": "biolink:causes", "object": "MONDO:0009861", "primary_knowledge_source": "infores:clingen", "ASSERTION": "Pathogenic", "APPLIED_EVIDENCE_CODES_MET": "PP4_Moderate, PM2, PS3, PM3", "APPLIED_EVIDENCE_CODES_NOT_MET": "PVS1", "SUMMARY": "PAH-specific ACMG/AMP criteria applied: PM2: gnomAD MAF=0.00002; PP4_Moderate: Seen in PKU patients. BH4 disorders ruled out. (PMID:2574002); PS3: <3% (PMID:9450897). PM3: Detected in trans with known pathogenic variants. In summary this variant meets criteria to be classified as pathogenic for phenylketonuria in an autosomal recessive manner based on the ACMG/AMP criteria applied as specified by the PAH Expert Panel: (PM2, PM3, PP4_Moderate, PS3). Updated to reflect new PVS1 recommendations.", "publications": ["PMID:2574002", "PMID:9450897", "PMID:2574002"], "EXPERT_PANEL": "Phenylketonuria VCEP", "EVIDENCE_REPO_LINK": "https://erepo.genome.network/evrepo/ui/classification/CA114360/MONDO:0009861/006", "APPROVAL_DATA": "2019-03-23", "PUBLISHED_DATE": "2019-05-10", "MODE_OF_INHERITANCE": "Autosomal recessive inheritance", "HPO_FOR_MODE_OF_INHERITANCE": "HP:0000007", "DIRECTION": "Supports", "negated": false, "original_subject": "CAID:CA114360", "original_object": "MONDO:0009861"}
{"subject": "CAID:CA114360", "predicate": "biolink:is_frameshift_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "start_lost", "original_subject": "CAID:CA114360", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA114360", "predicate": "biolink:is_non_coding_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "5_prime_UTR_variant", "distance_to_feature": 3284, "original_subject": "CAID:CA114360", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA114360", "predicate": "biolink:is_nearby_variant_of", "object": "NCBIGene:283432", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "upstream_gene_variant", "distance_to_feature": 92731, "original_subject": "CAID:CA114360", "original_object": "ENSEMBL:ENSG00000258169"}
{"subject": "CAID:CA114360", "predicate": "biolink:is_nearby_variant_of", "object": "NCBIGene:429", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "upstream_gene_variant", "distance_to_feature": 40544, "original_subject": "CAID:CA114360", "original_object": "ENSEMBL:ENSG00000139352"}
{"subject": "CAID:CA229778", "predicate": "biolink:is_missense_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "missense_variant", "original_subject": "CAID:CA229778", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA229778", "predicate": "biolink:is_synonymous_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "synonymous_variant", "original_subject": "CAID:CA229778", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA229624", "predicate": "biolink:is_nonsense_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "stop_gained", "original_subject": "CAID:CA229624", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA229624", "predicate": "biolink:is_splice_site_variant_of", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "splice_region_variant", "original_subject": "CAID:CA229624", "original_object": "ENSEMBL:ENSG00000171759"}
{"subject": "CAID:CA220580", "predicate": "biolink:related_to", "object": "NCBIGene:5053", "primary_knowledge_source": "infores:robokop-snpeff", "knowledge_level": "prediction", "agent_type": "computational_model", "snpeff_effect": "conservative_inframe_deletion", "original_subject": "CAID:CA220580", "original_object": "ENSEMBL:ENSG00000171759"}