Entry Search - 218600 603780

Search: '218600 603780 (Search in: MIM number)'

Results: 2 entries.

* 603780. RECQ PROTEIN-LIKE 4; RECQL4
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,511,288-144,517,833
Matching terms: 603780
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
8q24.3	Baller-Gerold syndrome	218600	AR	3
	RAPADILINO syndrome	266280	AR	3
	Rothmund-Thomson syndrome, type 2	268400	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 1003923009, 702413000, 77608001

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# 218600. BALLER-GEROLD SYNDROME; BGS
Cytogenetic location: 8q24.3
Matching terms: 218600
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
8q24.3	Baller-Gerold syndrome	218600	AR	3	RECQL4	603780

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA

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ICD+
SNOMEDCT: 77608001 ORPHA: 1225 DO: 0050654

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Search: 218600 603780 (Search in: MIM number)

Results: 2 entries.

* 603780. RECQ PROTEIN-LIKE 4; RECQL4
Cytogenetic location: 8q24.3, Genomic coordinates (GRCh38): 8:144,511,288-144,517,833
Matching terms: 603780

# 218600. BALLER-GEROLD SYNDROME; BGS
Cytogenetic location: 8q24.3
Matching terms: 218600

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Printed: June 5, 2024