Entry Search - 158900 158901 601278 602900 606009 614982

Search: '158900 158901 601278 602900 606009 614982 (Search in: MIM number)'

Results: 6 entries.

# 158900. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 1; FSHD1
FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY, INFANTILE, INCLUDED
Cytogenetic location: 4q35, Genomic coordinates (GRCh38): 4:182,300,001-190,214,555
Matching terms: 158900
► Gene-Phenotype Relationships ► Phenotypic Series ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
4q35	Facioscapulohumeral muscular dystrophy 1	158900	AD	4

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Facioscapulohumeral muscular dystrophy - PS158900 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.3	?Facioscapulohumeral muscular dystrophy 3, digenic	DR	3	619477	LRIF1	615354
4q35	Facioscapulohumeral muscular dystrophy 1	AD	4	158900	FSHD1	158900
18p11.32	Facioscapulohumeral muscular dystrophy 2, digenic	DD	3	158901	SMCHD1	614982
20q11.21	Facioscapulohumeral muscular dystrophy 4, digenic	DD	3	619478	DNMT3B	602900

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance GTR GARD OrphaNet POSSUM	Cell Lines Coriell

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ICD+
SNOMEDCT: 399091004 ICD10CM: G71.02 ORPHA: 269 DO: 0111192

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* 601278. FSHD REGION GENE 1; FRG1
Cytogenetic location: 4q35.2, Genomic coordinates (GRCh38): 4:189,940,872-189,963,192
Matching terms: 601278
► Links

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 NCBI Gene UCSC	Clinical Resources GTR	Variation ClinVar gnomAD GWAS Central NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cell Lines Coriell	Cellular Pathways Reactome

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# 158901. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2
Cytogenetic location: 18p11.32
Matching terms: 158901
► 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
18p11.32	Facioscapulohumeral muscular dystrophy 2, digenic	158901	DD	3	SMCHD1	614982

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Facioscapulohumeral muscular dystrophy - PS158900 - 4 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p13.3	?Facioscapulohumeral muscular dystrophy 3, digenic	DR	3	619477	LRIF1	615354
4q35	Facioscapulohumeral muscular dystrophy 1	AD	4	158900	FSHD1	158900
18p11.32	Facioscapulohumeral muscular dystrophy 2, digenic	DD	3	158901	SMCHD1	614982
20q11.21	Facioscapulohumeral muscular dystrophy 4, digenic	DD	3	619478	DNMT3B	602900

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

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ICD+
ORPHA: 269 DO: 0111193

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* 606009. DOUBLE HOMEOBOX PROTEIN 4; DUX4
D4Z4 MACROSATELLITE REPEAT, INCLUDED
Cytogenetic location: 4q35.2, Genomic coordinates (GRCh38): 4:190,173,774-190,185,911
Matching terms: 606009
► Links

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 NCBI Gene UCSC	Clinical Resources MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Central NHLBI EVS	Animal Models Alliance Genome MARRVEL NCBI Orthologs OrthoDB	Cellular Pathways Reactome

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* 602900. DNA METHYLTRANSFERASE 3B; DNMT3B
Cytogenetic location: 20q11.21, Genomic coordinates (GRCh38): 20:32,762,385-32,809,356
Matching terms: 602900
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
20q11.21	Facioscapulohumeral muscular dystrophy 4, digenic	619478	DD	3
20q11.21	Immunodeficiency-centromeric instability-facial anomalies syndrome 1	242860	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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* 614982. STRUCTURAL MAINTENANCE OF CHROMOSOMES FLEXIBLE HINGE DOMAIN-CONTAINING PROTEIN 1; SMCHD1
Cytogenetic location: 18p11.32, Genomic coordinates (GRCh38): 18:2,655,726-2,805,017
Matching terms: 614982
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
18p11.32	Bosma arhinia microphthalmia syndrome	603457	AD	3
18p11.32	Facioscapulohumeral muscular dystrophy 2, digenic	158901	DD	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 Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 720511000

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Search: 158900 158901 601278 602900 606009 614982 (Search in: MIM number)

Results: 6 entries.

* 601278. FSHD REGION GENE 1; FRG1
Cytogenetic location: 4q35.2, Genomic coordinates (GRCh38): 4:189,940,872-189,963,192
Matching terms: 601278

# 158901. FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY 2, DIGENIC; FSHD2
Cytogenetic location: 18p11.32
Matching terms: 158901

* 606009. DOUBLE HOMEOBOX PROTEIN 4; DUX4
D4Z4 MACROSATELLITE REPEAT, INCLUDED
Cytogenetic location: 4q35.2, Genomic coordinates (GRCh38): 4:190,173,774-190,185,911
Matching terms: 606009

* 602900. DNA METHYLTRANSFERASE 3B; DNMT3B
Cytogenetic location: 20q11.21, Genomic coordinates (GRCh38): 20:32,762,385-32,809,356
Matching terms: 602900

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Printed: June 6, 2024