Entry Search - 603471 603859 605814

Search: '603471 603859 605814 (Search in: MIM number)'

Results: 3 entries.

* 603859. SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
Cytogenetic location: 7q21.3, Genomic coordinates (GRCh38): 7:96,120,220-96,322,098
Matching terms: 603859
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
7q21.3	Citrullinemia, adult-onset type II	603471	AR	3
7q21.3	Citrullinemia, type II, neonatal-onset	605814	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 716863007, 717155003

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# 605814. CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Cytogenetic location: 7q21.3
Matching terms: 605814
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
7q21.3	Citrullinemia, type II, neonatal-onset	605814	AR	3	SLC25A13	603859

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Citrullinemia - PS215700 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7q21.3	Citrullinemia, adult-onset type II	AR	3	603471	SLC25A13	603859
7q21.3	Citrullinemia, type II, neonatal-onset	AR	3	605814	SLC25A13	603859
9q34.11	Citrullinemia	AR	3	215700	ASS1	603470

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics Citrullinemia SLC25A13 gene GTR Newborn Screening ACMG ACT Sheet ACMG Algorithm GARD OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
SNOMEDCT: 717155003 ORPHA: 247598 DO: 0070341

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# 603471. CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
Cytogenetic location: 7q21.3
Matching terms: 603471
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
7q21.3	Citrullinemia, adult-onset type II	603471	AR	3	SLC25A13	603859

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Citrullinemia - PS215700 - 3 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
7q21.3	Citrullinemia, adult-onset type II	AR	3	603471	SLC25A13	603859
7q21.3	Citrullinemia, type II, neonatal-onset	AR	3	605814	SLC25A13	603859
9q34.11	Citrullinemia	AR	3	215700	ASS1	603470

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

▲ Close

ICD+
SNOMEDCT: 716863007 ORPHA: 247585 DO: 0070342

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Search: 603471 603859 605814 (Search in: MIM number)

Results: 3 entries.

* 603859. SOLUTE CARRIER FAMILY 25 (CITRIN), MEMBER 13; SLC25A13
Cytogenetic location: 7q21.3, Genomic coordinates (GRCh38): 7:96,120,220-96,322,098
Matching terms: 603859

# 605814. CITRULLINEMIA, TYPE II, NEONATAL-ONSET
Cytogenetic location: 7q21.3
Matching terms: 605814

# 603471. CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2
Cytogenetic location: 7q21.3
Matching terms: 603471

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Printed: June 1, 2024