Entry Search - 160900 605377

Search: '160900 605377 (Search in: MIM number)'

Results: 2 entries.

* 605377. DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,769,717-45,782,490
Matching terms: 605377
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
19q13.32	Myotonic dystrophy 1	160900	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 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	Cell Lines Coriell	Cellular Pathways Reactome

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ICD+
SNOMEDCT: 77956009

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# 160900. MYOTONIC DYSTROPHY 1; DM1
Cytogenetic location: 19q13.32
Matching terms: 160900
► 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
19q13.32	Myotonic dystrophy 1	160900	AD	3	DMPK	605377

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Myotonic dystrophy - PS160900 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
3q21.3	Myotonic dystrophy 2	AD	3	602668	CNBP	116955
19q13.32	Myotonic dystrophy 1	AD	3	160900	DMPK	605377

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Links
Testing GTR EuroGentest Steinert myotonic dystrophy Congenital-onset Steinert … Childhood-onset Steinert m… Juvenile-onset Steinert my… Adult-onset Steinert myoto… Late-onset Steinert myoton…	Clinical Resources Clinical Trials EuroGentest Steinert myotonic dystrophy Congenital-onset Steinert … Childhood-onset Steinert m… Juvenile-onset Steinert my… Adult-onset Steinert myoto… Late-onset Steinert myoton… Gene Reviews Genetic Alliance GTR OrphaNet Steinert myotonic dystrophy Congenital-onset Steinert … Childhood-onset Steinert m… Juvenile-onset Steinert my… Adult-onset Steinert myoto… Late-onset Steinert myoton… POSSUM	Animal Models Alliance Genome MGI Mouse Phenotype OMIA Wormbase Disease Ontology	Cell Lines Coriell

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ICD+
SNOMEDCT: 77956009 ORPHA: 273, 589821, 589824, 589827, 589830, 589833 DO: 11722

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Search: 160900 605377 (Search in: MIM number)

Results: 2 entries.

* 605377. DYSTROPHIA MYOTONICA PROTEIN KINASE; DMPK
Cytogenetic location: 19q13.32, Genomic coordinates (GRCh38): 19:45,769,717-45,782,490
Matching terms: 605377

# 160900. MYOTONIC DYSTROPHY 1; DM1
Cytogenetic location: 19q13.32
Matching terms: 160900

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