Entry Search - 154500 248390 602000 606847 610060 613715 613717 618939

Search: '154500 248390 602000 606847 610060 613715 613717 618939 (Search in: MIM number)'

Results: 8 entries.

# 154500. TREACHER COLLINS SYNDROME 1; TCS1
Cytogenetic location: 5q32-q33.1
Matching terms: 154500
► 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
5q32-q33.1	Treacher Collins syndrome 1	154500	AD	3	TCOF1	606847

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Treacher Collins syndrome - PS154500 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q14.1	Treacher-Collins syndrome 4	AD	3	618939	POLR1B	602000
5q32-q33.1	Treacher Collins syndrome 1	AD	3	154500	TCOF1	606847
6p21.1	Treacher Collins syndrome 3	AR	3	248390	POLR1C	610060
13q12.2	Treacher Collins syndrome 2	AD, AR	3	613717	POLR1D	613715

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 82203000 ICD10CM: Q75.4 ORPHA: 861 DO: 0080789

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* 610060. POLYMERASE I, RNA, SUBUNIT C; POLR1C
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,517,089-44,461,400
Matching terms: 610060
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
6p21.1	Leukodystrophy, hypomyelinating, 11	616494	AR	3
6p21.1	Treacher Collins syndrome 3	248390	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 FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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* 613715. POLYMERASE I, RNA, SUBUNIT D; POLR1D
Cytogenetic location: 13q12.2, Genomic coordinates (GRCh38): 13:27,620,743-27,667,411
Matching terms: 613715
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
13q12.2	Treacher Collins syndrome 2	613717	AD, 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 Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Dosage MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 613717. TREACHER COLLINS SYNDROME 2; TCS2
Cytogenetic location: 13q12.2
Matching terms: 613717
► 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
13q12.2	Treacher Collins syndrome 2	613717	AD, AR	3	POLR1D	613715

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Treacher Collins syndrome - PS154500 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q14.1	Treacher-Collins syndrome 4	AD	3	618939	POLR1B	602000
5q32-q33.1	Treacher Collins syndrome 1	AD	3	154500	TCOF1	606847
6p21.1	Treacher Collins syndrome 3	AR	3	248390	POLR1C	610060
13q12.2	Treacher Collins syndrome 2	AD, AR	3	613717	POLR1D	613715

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

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ICD+
ORPHA: 861 DO: 0080790

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# 618939. TREACHER COLLINS SYNDROME 4; TCS4
Cytogenetic location: 2q14.1
Matching terms: 618939
► 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
2q14.1	Treacher-Collins syndrome 4	618939	AD	3	POLR1B	602000

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Treacher Collins syndrome - PS154500 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q14.1	Treacher-Collins syndrome 4	AD	3	618939	POLR1B	602000
5q32-q33.1	Treacher Collins syndrome 1	AD	3	154500	TCOF1	606847
6p21.1	Treacher Collins syndrome 3	AR	3	248390	POLR1C	610060
13q12.2	Treacher Collins syndrome 2	AD, AR	3	613717	POLR1D	613715

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews GTR GARD OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA Wormbase Disease Ontology

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ICD+
ORPHA: 861 DO: 0080792

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* 602000. POLYMERASE I, RNA, SUBUNIT B; POLR1B
Cytogenetic location: 2q14.1, Genomic coordinates (GRCh38): 2:112,542,036-112,579,818
Matching terms: 602000
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q14.1	Treacher-Collins syndrome 4	618939	AD	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 GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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# 248390. TREACHER COLLINS SYNDROME 3; TCS3
Cytogenetic location: 6p21.1
Matching terms: 248390
► 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
6p21.1	Treacher Collins syndrome 3	248390	AR	3	POLR1C	610060

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Treacher Collins syndrome - PS154500 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
2q14.1	Treacher-Collins syndrome 4	AD	3	618939	POLR1B	602000
5q32-q33.1	Treacher Collins syndrome 1	AD	3	154500	TCOF1	606847
6p21.1	Treacher Collins syndrome 3	AR	3	248390	POLR1C	610060
13q12.2	Treacher Collins syndrome 2	AD, AR	3	613717	POLR1D	613715

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD Treacher-Collins syndrome Treacher collins syndrome 3 OrphaNet	Animal Models MGI Mouse Phenotype NCBI HomoloGene Wormbase Disease Ontology

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ICD+
ORPHA: 861 DO: 0080791

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* 606847. TREACLE RIBOSOME BIOGENESIS FACTOR 1; TCOF1
Cytogenetic location: 5q32-q33.1, Genomic coordinates (GRCh38): 5:150,357,697-150,400,293
Matching terms: 606847
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q32-q33.1	Treacher Collins syndrome 1	154500	AD	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 MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 82203000 ICD10CM: Q75.4

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Search: 154500 248390 602000 606847 610060 613715 613717 618939 (Search in: MIM number)

Results: 8 entries.

# 154500. TREACHER COLLINS SYNDROME 1; TCS1
Cytogenetic location: 5q32-q33.1
Matching terms: 154500

* 610060. POLYMERASE I, RNA, SUBUNIT C; POLR1C
Cytogenetic location: 6p21.1, Genomic coordinates (GRCh38): 6:43,517,089-44,461,400
Matching terms: 610060

* 613715. POLYMERASE I, RNA, SUBUNIT D; POLR1D
Cytogenetic location: 13q12.2, Genomic coordinates (GRCh38): 13:27,620,743-27,667,411
Matching terms: 613715

# 613717. TREACHER COLLINS SYNDROME 2; TCS2
Cytogenetic location: 13q12.2
Matching terms: 613717

# 618939. TREACHER COLLINS SYNDROME 4; TCS4
Cytogenetic location: 2q14.1
Matching terms: 618939

* 602000. POLYMERASE I, RNA, SUBUNIT B; POLR1B
Cytogenetic location: 2q14.1, Genomic coordinates (GRCh38): 2:112,542,036-112,579,818
Matching terms: 602000

# 248390. TREACHER COLLINS SYNDROME 3; TCS3
Cytogenetic location: 6p21.1
Matching terms: 248390

* 606847. TREACLE RIBOSOME BIOGENESIS FACTOR 1; TCOF1
Cytogenetic location: 5q32-q33.1, Genomic coordinates (GRCh38): 5:150,357,697-150,400,293
Matching terms: 606847

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